Showing posts with label Spinal Muscular Atrophy Type 1. Show all posts
Showing posts with label Spinal Muscular Atrophy Type 1. Show all posts
Sunday, October 6, 2013
Monday, June 17, 2013
Shira's 8th Birthday Party Video
Shira's fantastic 8th birthday party!!! We are so thankful to still have Shira with us. We love you Shira!
Sunday, November 13, 2011
Wednesday, September 7, 2011
Mogul Using Own $100 Million in Race to Cure Daughter Prompts Novartis Aid
Video
http://www.bloomberg.com/vhttp://www.blogger.com/img/blank.gifideo/74900090/
Mogul Using Own $100 Million in Race to Cure Daughter of Spinal Muscular Atrophy Prompts Novartis Aid
by Brad Fisher on Wednesday, September 7, 2011 at 9:11am
Mogul Using Own $100 Million in Race to Cure Daughter Prompts Novartis Aid
Q
By Robert Langreth and Alex Nussbaum - Sep 6, 2011 9:01 PM PT
Bloomberg Markets Magazine
Sept. 7 (Bloomberg) -- Dinakar Singh, chief executive officer of TPG-Axon Capital Management, discusses his daughter Arya's crippling genetic disease and how it led him to establish and fund the Spinal Muscular Atrophy Foundation. Singh is featured in the October issue of Bloomberg Markets magazine. (Source: Bloomberg)
Goldman Sachs Group Inc. (GS) partner Dinakar Singh discovered in 2001 that his 19-month-old daughter, Arya, had a crippling genetic disease called spinal muscular atrophy.
The malady makes the nerve cells that control muscles gradually deteriorate. There are no treatments, let alone a cure, Bloomberg Markets magazine reports in its October issue. Worse still, while the gene causing the ailment had recently been discovered, nobody in the drug industry was doing much about it, he says.
“I was fearful and anxious that treatments would be developed, but far too late to save Arya,” says Singh, 42, who founded and runs New York hedge fund TPG-Axon Capital Management LP, which has $8.1 billion in assets. “We didn’t want to find out 25 years later that the science was really there but there isn’t a drug because nobody focused on it.”
Singh, who left Goldman in 2004, has spent almost $100 million of his own money to create and fund the Spinal Muscular Atrophy Foundation. He wants to discover and develop a drug that he hopes will help his daughter, who is one of 25,000 SMA patients in the U.S. Children with severe forms often die within a few years, while those with mild cases can live a normal life span with supportive care. Arya, 11, and starting sixth grade, uses a wheelchair.
‘High-Speed Initiative’
Singh’s foundation is making progress. It’s collaborating with Novartis AG (NOVN), which may bring a drug into human tests as soon as 2013, says Mark Fishman, research chief for the Basel, Switzerland-based drugmaker.
The foundation has pumped $13 million into PTC Therapeutics Inc. in South Plainfield, New Jersey, which has produced a pill that increases the life span of mice with SMA. It also has funded a scientist whose research has led to an injectable drug developed by Isis Pharmaceuticals Inc. (ISIS) of Carlsbad, California. That treatment may enter human trials before year’s end. Singh says he’ll enroll Arya if that drug gets to the testing phase before others.
“The SMA Foundation has converted this from a slow-moving exercise to a high-speed initiative,” says Darryl De Vivo, a pediatric neurologist at Columbia University Medical Center in New York, who has overseen Arya’s care since her diagnosis.
Frustrated with the sluggishness, or nonexistence, of medical research, Singh and a small band of wealthy parents whose children have serious illnesses are spending millions of dollars to fund drug development.
‘Change the System’
These benefactors include hedge-fund managers, private- equity investors and entrepreneurs, many of whom have made their fortunes on Wall Street. The principles they apply in their jobs -- managing complicated tasks, making investments and expecting positive results -- translate to their new endeavors, says Stacy Palmer, editor of the Chronicle of Philanthropy.
“Business executives have a better understanding of how markets work and have started to ask tougher questions,” Palmer says. Their goal: “Change the system and whatever is slowing it down.”
The new philanthropists are building on a foundation laid by well-known predecessors. John D. Rockefeller in 1901 formed the medical research institute that would become New York’s Rockefeller University after his grandson died of scarlet fever. Billionaire Michael Milken, who pioneered junk bonds, founded the Prostate Cancer Foundation and FasterCures, a think tank to speed progress toward cures in all medical fields.
‘Lots of Shovels’
Microsoft Corp. co-founder Bill Gates and his Bill & Melinda Gates Foundation have focused on malaria, polio and other global health threats. James Simons, founder of hedge fund Renaissance Technologies LLC, and his wife, Marilyn, started the Simons Foundation. It’s the second-biggest funder of autism research, after the U.S. National Institutes of Health, according to recent data.
Benefactors such as Singh are taking a direct role in early drug research. They want to make it easier for companies to produce a medicine or venture firms to fund it. They begin with basic research discoveries, often in obscure illnesses, and advance the work. Instead of handing money to scientists and getting out of the way, they stay involved, hire experts and push researchers to work together rather than compete.
“We have focused on having lots of shovels ready and having the maps ready and having all the supplies ready, so companies are willing to prospect for SMA drugs,” Singh says. His idea: “Make it easy for companies, take the risk down for them so they can get a sense cheaply and easily whether there is something there.”
Arya’s Efforts
Even Arya is doing her bit. In her family’s 11th-floor condominium that looks north over New York’s Central Park, she says she’s excited about holding a bake sale to raise money for SMA research. She has just returned from precautionary tests to make sure a respiratory infection didn’t become serious. Her mother pats her back when she coughs weakly. Then Arya scoots off in her wheelchair to play with her younger brother and sister.
James O’Sullivan, director of foundation services for Rockefeller Philanthropy Advisors, says about half of his 25 medical philanthropy clients at any time are interested in the hands-on approach Singh’s foundation is taking, up from a handful 15 years ago.
“There is a world of difference between 10 years ago and now,” says O’Sullivan, whose New York-based organization advises wealthy patrons. “Today’s donors are much more interested in seeing how their dollars make a difference in a disease.”
New Breed
Victoria Jackson, a cosmetics entrepreneur whose husband, Bill Guthy, co-founded direct marketer Guthy-Renker LLC, is among the new breed. Her daughter, Ali, came down with a central nervous system disorder at age 14 called neuromyelitis optica, which can cause blindness.
Since then, Jackson has spent more than $15 million on her foundation to develop treatments. Ali, now 18, has avoided severe complications by taking immunosuppressants.
Jackson says scientists often work independently with their own agendas, wasting money.
“I manage where every dime goes and make sure there is complete disclosure and collaboration among the researchers,” she says.
Private Investors
Private investors may become crucial as drugmakers cut research and close labs, O’Sullivan says. Pfizer Inc. (PFE), the world’s largest drugmaker, will spend $6.5 billion to $7 billion on research in 2012, down from $9.4 billion in 2010. That makes working with a foundation that already has done some of the grunt work attractive.
“Drug companies want to come in later in the R&D process and provide backing for potential therapies that have more evidence behind them than in the past,” O’Sullivan says.
Singh says his foundation can focus on the science because it doesn’t have to invest huge amounts of time raising money. And with no need to impress donors, the organization can spend on the business of developing lab tests and building the pieces that make it easier for companies to discover SMA drugs.
The foundation’s $16 million in research spending last year almost equals the $19 million the NIH spent on spinal muscular atrophy.
Novartis saved years by taking advantage of advances made by foundation-backed scientists and the laboratory techniques they developed to test compounds for SMA. The company was able to focus on screening for drugs rather than diverting staff to basic research, says Daniel Curtis, a research manager at Novartis.
Rich Donors
The SMA Foundation and its academic partners may reap a benefit if a Novartis drug reaches the market and sells well. Singh’s foundation could get back a multiple of its spending on the collaboration, says Karen Chen, the organization’s chief scientific officer, who declined to give specifics. Any money would allow the foundation to reinvest in science, she says.
As an incentive for Novartis to work quickly, an agreement allows the company to repay nothing if it completes clinical trials fast enough.
Rich donors with a personal stake in a disease, while well- meaning, can divert resources from illnesses that may be closer to a cure or afflict more people, says Arthur Caplan, a bioethicist at the University of Pennsylvania in Philadelphia.
“There can be some kind of distortion of emphasis,” he says.
SMA affects 25,000 Americans versus 5.4 million for Alzheimer’s disease, according to the SMA Foundation and the Alzheimer’s Association.
Head Start
Singh says spinal muscular atrophy is more likely to be treatable than common neurological diseases such as Alzheimer’s, whose origin is uncertain. He says he wouldn’t have spent as much money if he thought an SMA treatment was a long shot. Scientists already know what causes SMA, giving researchers a head start, he says.
Garen Staglin, a senior adviser at San Francisco-based private-equity firm FTV Capital, is tackling diseases that are more widespread, including schizophrenia. Staglin’s International Mental Health Research Organization has raised $135 million for brain research during the past 17 years. It hosts an annual music concert at his Napa Valley, California, vineyard. Dionne Warwick was scheduled to headline a concert in September.
Staglin’s son, Brandon, now 39, was diagnosed with schizophrenia in 1990. Staglin was in France on business and got a call that police had pulled Brandon over as he drove erratically.
“He told me he felt like he had lost half his brain,” Staglin recalls. “He just lost his ability to think coherently.”
‘Run Toward It’
Rather than hide Brandon’s situation, Staglin acted.
“We decided we had two choices: We could either run away from the problem like too many families with these illnesses,” he says. “We wanted to run toward it.”
Another effort, Staglin’s One Mind for Research, is working with former Rhode Island Congressman Patrick Kennedy to get drug companies and brain researchers to collaborate on treatments for Alzheimer’s, autism, schizophrenia and other conditions. This effort is based on the joint-research approach that has long been used in the semiconductor industry.
For Alexander Silver, the motivation is his 4-year-old son, Jackson. Silver, a partner at New York-based private-investment firm P2 Capital Partners, LLC, started the Jackson Gabriel Silver Foundation in 2010 to find a treatment for a rare genetic condition called epidermolysis bullosa. In the disease, a protein that holds skin layers together is missing, and the skin blisters and shears off with any friction. Half of Jackson’s body is covered in high-tech bandages that cost $6,000 a month.
Cutting Red Tape
Silver, 34, who has raised more than $400,000 since 2008 and aims for $10 million or more, predicts a good treatment will come if money flows without red tape to the right projects. His foundation -- along with one run by Paul Joseph, a private- wealth broker at Morgan Stanley Smith Barney LLC whose 7-year- old son has the condition -- has backed work at the University of Southern California in Los Angeles. The research has produced a potential drug.
The approach has garnered $26 million in venture capital from Boston-based Third Rock Ventures to form a company and move the therapy in human trials.
No Budget on Life
“The skills I developed professionally matter a lot for this,” Silver says. “Just like investing, you are allocating capital to the projects that have the highest probability of success and the lowest probability of failure in the quickest time frame.”
For Singh, the effort to save Arya is a family affair, and he promises to spend as much money as necessary. Singh’s wife, Loren Eng, has a Master of Business Administration from Stanford University and works fulltime leading the foundation.
The eight-member staff includes former researchers from Roche Holding AG (ROG) and Pfizer.
While Arya has a mild form of SMA, she has gotten weaker. She has trouble lifting her arms above her head and needs fulltime nursing. Every cold is a threat because her frail lung muscles put her at risk for pneumonia.
“I don’t think there is a budget on your daughter’s life,” Singh says. “As long as there is a chance of doing something and we have the ability to do it, we will do it.”
‘In Tears’
Singh, who won’t disclose his compensation, says his fund returned 60 percent in the six-and-a-half years since he started it on Feb. 1, 2005. That’s more than double the Standard & Poor’s 500 Index’s 25 percent return during the period.
Arya, the oldest of Singh and Eng’s three children, was born in March 2000 and developed normally at first. She was slow to walk, however, taking her first wobbly steps at 15 months. Within months, she began regressing. A doctor friend saw Arya’s stiff gait at a party in August 2001 and told them to get it checked out right away.
Eng had become pregnant again, and two days before her delivery date, she got an abrupt call from the neurologist confirming the worst about Arya.
“Loren called me in tears,” Singh remembers. “I was saying: ‘What does it mean? What does it mean?’ She said the doctor didn’t say anything. She has SMA. That’s it.” Singh and Eng spent the next days in a frantic race to figure out the prognosis -- and to discover whether their second child, Kiran, also had SMA. He didn’t.
‘Untreatable, Incurable, Fatal’
“When we found out about it, we were told it was untreatable, incurable and fatal,” Singh says.
De Vivo, the Columbia University neurologist, met the couple and explained that children like Arya have defects in or are missing a gene called SMN, discovered only in 1995. It directs cells to make a protein necessary for neurons that control muscles.
He introduced them to Columbia colleague Thomas Jessell, a motor neuron biology expert. They also met Gerald Fischbach, a neuroscientist and then dean of Columbia’s health sciences and medicine faculty. All three became key advisers to the SMA Foundation.
“I met them and decided that SMA was a perfect disorder to mount a major attack on,” says Fischbach, who’s now scientific director for the Simons Foundation Autism Research Initiative. “The science was ripe.”
‘Truly Solve It’
At first Singh and Eng had planned to back existing charities, such as Families of Spinal Muscular Atrophy. They gave $750,000 in May 2002 to fund a clinic at Columbia. In 2006, they agreed to give as much as $15 million to help fund a motor neuron research center at the university.
The more they learned, the more they became convinced that, unlike most neurological diseases, SMA might be conquered.
“What struck us as different about SMA was that there really seemed to be a chance to truly solve it -- and perhaps even in a time frame that could really help Arya,” Singh says.
A quirk in the genetics of SMA increased their hope. In many inherited diseases, a crucial gene is missing or defective and the protein it makes is absent or doesn’t work. In SMA, the body has a backup gene that produces small amounts of the SMN protein. That’s why children with the disease live at all.
By the time Singh and Eng became involved, an idea with potential to help SMA sufferers was already being discussed in the medical literature: If someone could find a chemical that could safely boost the availability of the backup protein, that discovery could form the basis of a drug. Yet as far as they could tell, no large drug or biotech company was focused on SMA.
‘Terrible Gap’
“You had this terrible gap,” Singh says. “There was no one saying, let us take these interesting discoveries and come up with something that could be a drug.”
The couple started the foundation in 2003. Equipped with PowerPoint presentations that showed why SMA was a lower research risk than most genetic diseases that could yield a drug with $1 billion in annual sales, they approached more than a dozen companies. It was a hard sell.
At the American Academy of Neurology conference in 2004, only three of seven biotech companies they invited showed up.
“There was never an outright no,” Eng says. Instead, “polite conversations went nowhere or calls were not returned.”
To her, it seemed drugmakers were focused on heart disease, cancer or diabetes and their significant commercial markets. The NIH alone spends $5.8 billion a year on cancer research.
‘A Buzz’
Singh and Eng started paying small biotech companies to screen for chemicals that might increase the supply of the SMN protein. They, along with other SMA charities, also funded Adrian Krainer, a researcher at Cold Spring Harbor Laboratory on Long Island in New York. He was working on a technology that had shown some promise, even though the foundation’s scientific advisers said the approach was a long shot.
“There was a buzz; there was this new couple, they are very wealthy, people thought they were in a position to make a difference,” says Krainer, who met Arya in 2002 when she could still walk.
For the next few years, the foundation backed research testing dozens of existing drugs to see if any of them increased the SMN protein. The scientific advisers got together in 2008 for a meeting at the Ritz-Carlton hotel in Half Moon Bay, California.
“It was the most-depressing meeting ever,” Eng recalls. “It was clear we had nothing.”
‘Huge Implications’
By then, Arya was in a wheelchair. At this point, the SMA Foundation had captivated Novartis. In 2002, the company had appointed Fishman, a scientist and former Harvard Medical School professor, to direct research operations.
He says one idea was that success in treating rare genetic diseases might pave the way for dealing with more-common ones. Columbia’s Jessell and Fischbach pitched him on SMA in 2005.
“It seemed tractable from a scientific point of view, with potentially huge implications on health,” Fishman says. “Others weren’t working on it, which is another good reason to do it.”
Still, it wasn’t until November 2007 that Novartis began its effort. It started with neurobiologist Rajeev Sivasankaran and a few assistants. Sivasankaran, 41, designed a quick way to test the more than 1 million compounds in Novartis’s collection of chemicals to see if any had potential for SMA. A compound with some modest effect could become a starting point for a safe and effective medicine.
‘Full-Court Press’
Novartis was lucky. By December 2009, the researchers had found a drug that improved motor function in mice with SMA.
“That got the whole group excited,” Sivasankaran says. The SMA Foundation and Novartis scientists get together every three months to review progress. At a June 1 meeting, researchers from the foundation, Novartis, Columbia and Harvard crowded into a conference room to hear the latest results.
“It is a full-court press,” Fishman says. “We are pushing as hard as we can.”
Still, Novartis human trials are two years off at best, Fishman says.
Meantime, Repligen Corp. (RGEN), a Waltham, Massachusetts-based biotechnology company, in July began an initial safety test of its SMA drug on people. It licensed this drug from the charity Families of SMA, based in Elk Grove Village, Illinois.
More Efforts
Singh’s foundation is closing in with two more efforts. PTC Therapeutics last year found compounds that boost the life span of mice with the disease. The company could begin human trials in late 2012, Chief Executive Officer Stuart Peltz says.
“It is absolutely incredible,” he says. Mice that would otherwise barely be able to move look normal with PTC’s drug, he says.
Singh and Eng say they’re particularly excited by Isis Pharmaceuticals’ progress, based on work by Krainer at Cold Spring Harbor. Isis published data in March showing that its drug could boost motor neuron levels -- and survival -- in mice with SMA. The medicine, which is injected into spaces around the spine, corrects the defect that causes the backup gene to produce too little protein.
“I have been doing drug development half of my life,” says Roy Vagelos, former Merck & Co. CEO, who has followed the SMA Foundation’s research. “This will be the first time if it works that a family had gotten behind a problem, a genetic defect in their own family, and come up with a solution.”
Arya is very aware of her illness and the battles to conquer it, even though she doesn’t like to talk about it, Singh says. She often asks her parents what her adult life will be like and why she has to be sick.
“Trying to understand what this all means is a big deal now,” Singh says.
Arya’s Homework
For a homework assignment last year on Egyptian mythology, Arya imagined a goddess of illness.
“She thinks of cures for sicknesses and puts hints for these cures in people’s minds,” Arya wrote. “She has a puppy face, puppy paws, human body and is always thinking of cures.” Eng sent a copy of her daughter’s essay to Novartis’s Fishman.
“It hits you right where you live,” he says. “That kind of innocent gratitude is the most wonderful reward you can get.”
To contact the reporters responsible for this story: Robert Langreth in New York at rlangreth@bloomberg.net; Alex Nussbaum in New York anussbaum1@bloomberg.net.
To contact the editor responsible for this story: Michael Waldholz at mwaldholz@bloomberg.net
http://www.bloomberg.com/vhttp://www.blogger.com/img/blank.gifideo/74900090/
Mogul Using Own $100 Million in Race to Cure Daughter of Spinal Muscular Atrophy Prompts Novartis Aid
by Brad Fisher on Wednesday, September 7, 2011 at 9:11am
Mogul Using Own $100 Million in Race to Cure Daughter Prompts Novartis Aid
Q
By Robert Langreth and Alex Nussbaum - Sep 6, 2011 9:01 PM PT
Bloomberg Markets Magazine
Sept. 7 (Bloomberg) -- Dinakar Singh, chief executive officer of TPG-Axon Capital Management, discusses his daughter Arya's crippling genetic disease and how it led him to establish and fund the Spinal Muscular Atrophy Foundation. Singh is featured in the October issue of Bloomberg Markets magazine. (Source: Bloomberg)
Goldman Sachs Group Inc. (GS) partner Dinakar Singh discovered in 2001 that his 19-month-old daughter, Arya, had a crippling genetic disease called spinal muscular atrophy.
The malady makes the nerve cells that control muscles gradually deteriorate. There are no treatments, let alone a cure, Bloomberg Markets magazine reports in its October issue. Worse still, while the gene causing the ailment had recently been discovered, nobody in the drug industry was doing much about it, he says.
“I was fearful and anxious that treatments would be developed, but far too late to save Arya,” says Singh, 42, who founded and runs New York hedge fund TPG-Axon Capital Management LP, which has $8.1 billion in assets. “We didn’t want to find out 25 years later that the science was really there but there isn’t a drug because nobody focused on it.”
Singh, who left Goldman in 2004, has spent almost $100 million of his own money to create and fund the Spinal Muscular Atrophy Foundation. He wants to discover and develop a drug that he hopes will help his daughter, who is one of 25,000 SMA patients in the U.S. Children with severe forms often die within a few years, while those with mild cases can live a normal life span with supportive care. Arya, 11, and starting sixth grade, uses a wheelchair.
‘High-Speed Initiative’
Singh’s foundation is making progress. It’s collaborating with Novartis AG (NOVN), which may bring a drug into human tests as soon as 2013, says Mark Fishman, research chief for the Basel, Switzerland-based drugmaker.
The foundation has pumped $13 million into PTC Therapeutics Inc. in South Plainfield, New Jersey, which has produced a pill that increases the life span of mice with SMA. It also has funded a scientist whose research has led to an injectable drug developed by Isis Pharmaceuticals Inc. (ISIS) of Carlsbad, California. That treatment may enter human trials before year’s end. Singh says he’ll enroll Arya if that drug gets to the testing phase before others.
“The SMA Foundation has converted this from a slow-moving exercise to a high-speed initiative,” says Darryl De Vivo, a pediatric neurologist at Columbia University Medical Center in New York, who has overseen Arya’s care since her diagnosis.
Frustrated with the sluggishness, or nonexistence, of medical research, Singh and a small band of wealthy parents whose children have serious illnesses are spending millions of dollars to fund drug development.
‘Change the System’
These benefactors include hedge-fund managers, private- equity investors and entrepreneurs, many of whom have made their fortunes on Wall Street. The principles they apply in their jobs -- managing complicated tasks, making investments and expecting positive results -- translate to their new endeavors, says Stacy Palmer, editor of the Chronicle of Philanthropy.
“Business executives have a better understanding of how markets work and have started to ask tougher questions,” Palmer says. Their goal: “Change the system and whatever is slowing it down.”
The new philanthropists are building on a foundation laid by well-known predecessors. John D. Rockefeller in 1901 formed the medical research institute that would become New York’s Rockefeller University after his grandson died of scarlet fever. Billionaire Michael Milken, who pioneered junk bonds, founded the Prostate Cancer Foundation and FasterCures, a think tank to speed progress toward cures in all medical fields.
‘Lots of Shovels’
Microsoft Corp. co-founder Bill Gates and his Bill & Melinda Gates Foundation have focused on malaria, polio and other global health threats. James Simons, founder of hedge fund Renaissance Technologies LLC, and his wife, Marilyn, started the Simons Foundation. It’s the second-biggest funder of autism research, after the U.S. National Institutes of Health, according to recent data.
Benefactors such as Singh are taking a direct role in early drug research. They want to make it easier for companies to produce a medicine or venture firms to fund it. They begin with basic research discoveries, often in obscure illnesses, and advance the work. Instead of handing money to scientists and getting out of the way, they stay involved, hire experts and push researchers to work together rather than compete.
“We have focused on having lots of shovels ready and having the maps ready and having all the supplies ready, so companies are willing to prospect for SMA drugs,” Singh says. His idea: “Make it easy for companies, take the risk down for them so they can get a sense cheaply and easily whether there is something there.”
Arya’s Efforts
Even Arya is doing her bit. In her family’s 11th-floor condominium that looks north over New York’s Central Park, she says she’s excited about holding a bake sale to raise money for SMA research. She has just returned from precautionary tests to make sure a respiratory infection didn’t become serious. Her mother pats her back when she coughs weakly. Then Arya scoots off in her wheelchair to play with her younger brother and sister.
James O’Sullivan, director of foundation services for Rockefeller Philanthropy Advisors, says about half of his 25 medical philanthropy clients at any time are interested in the hands-on approach Singh’s foundation is taking, up from a handful 15 years ago.
“There is a world of difference between 10 years ago and now,” says O’Sullivan, whose New York-based organization advises wealthy patrons. “Today’s donors are much more interested in seeing how their dollars make a difference in a disease.”
New Breed
Victoria Jackson, a cosmetics entrepreneur whose husband, Bill Guthy, co-founded direct marketer Guthy-Renker LLC, is among the new breed. Her daughter, Ali, came down with a central nervous system disorder at age 14 called neuromyelitis optica, which can cause blindness.
Since then, Jackson has spent more than $15 million on her foundation to develop treatments. Ali, now 18, has avoided severe complications by taking immunosuppressants.
Jackson says scientists often work independently with their own agendas, wasting money.
“I manage where every dime goes and make sure there is complete disclosure and collaboration among the researchers,” she says.
Private Investors
Private investors may become crucial as drugmakers cut research and close labs, O’Sullivan says. Pfizer Inc. (PFE), the world’s largest drugmaker, will spend $6.5 billion to $7 billion on research in 2012, down from $9.4 billion in 2010. That makes working with a foundation that already has done some of the grunt work attractive.
“Drug companies want to come in later in the R&D process and provide backing for potential therapies that have more evidence behind them than in the past,” O’Sullivan says.
Singh says his foundation can focus on the science because it doesn’t have to invest huge amounts of time raising money. And with no need to impress donors, the organization can spend on the business of developing lab tests and building the pieces that make it easier for companies to discover SMA drugs.
The foundation’s $16 million in research spending last year almost equals the $19 million the NIH spent on spinal muscular atrophy.
Novartis saved years by taking advantage of advances made by foundation-backed scientists and the laboratory techniques they developed to test compounds for SMA. The company was able to focus on screening for drugs rather than diverting staff to basic research, says Daniel Curtis, a research manager at Novartis.
Rich Donors
The SMA Foundation and its academic partners may reap a benefit if a Novartis drug reaches the market and sells well. Singh’s foundation could get back a multiple of its spending on the collaboration, says Karen Chen, the organization’s chief scientific officer, who declined to give specifics. Any money would allow the foundation to reinvest in science, she says.
As an incentive for Novartis to work quickly, an agreement allows the company to repay nothing if it completes clinical trials fast enough.
Rich donors with a personal stake in a disease, while well- meaning, can divert resources from illnesses that may be closer to a cure or afflict more people, says Arthur Caplan, a bioethicist at the University of Pennsylvania in Philadelphia.
“There can be some kind of distortion of emphasis,” he says.
SMA affects 25,000 Americans versus 5.4 million for Alzheimer’s disease, according to the SMA Foundation and the Alzheimer’s Association.
Head Start
Singh says spinal muscular atrophy is more likely to be treatable than common neurological diseases such as Alzheimer’s, whose origin is uncertain. He says he wouldn’t have spent as much money if he thought an SMA treatment was a long shot. Scientists already know what causes SMA, giving researchers a head start, he says.
Garen Staglin, a senior adviser at San Francisco-based private-equity firm FTV Capital, is tackling diseases that are more widespread, including schizophrenia. Staglin’s International Mental Health Research Organization has raised $135 million for brain research during the past 17 years. It hosts an annual music concert at his Napa Valley, California, vineyard. Dionne Warwick was scheduled to headline a concert in September.
Staglin’s son, Brandon, now 39, was diagnosed with schizophrenia in 1990. Staglin was in France on business and got a call that police had pulled Brandon over as he drove erratically.
“He told me he felt like he had lost half his brain,” Staglin recalls. “He just lost his ability to think coherently.”
‘Run Toward It’
Rather than hide Brandon’s situation, Staglin acted.
“We decided we had two choices: We could either run away from the problem like too many families with these illnesses,” he says. “We wanted to run toward it.”
Another effort, Staglin’s One Mind for Research, is working with former Rhode Island Congressman Patrick Kennedy to get drug companies and brain researchers to collaborate on treatments for Alzheimer’s, autism, schizophrenia and other conditions. This effort is based on the joint-research approach that has long been used in the semiconductor industry.
For Alexander Silver, the motivation is his 4-year-old son, Jackson. Silver, a partner at New York-based private-investment firm P2 Capital Partners, LLC, started the Jackson Gabriel Silver Foundation in 2010 to find a treatment for a rare genetic condition called epidermolysis bullosa. In the disease, a protein that holds skin layers together is missing, and the skin blisters and shears off with any friction. Half of Jackson’s body is covered in high-tech bandages that cost $6,000 a month.
Cutting Red Tape
Silver, 34, who has raised more than $400,000 since 2008 and aims for $10 million or more, predicts a good treatment will come if money flows without red tape to the right projects. His foundation -- along with one run by Paul Joseph, a private- wealth broker at Morgan Stanley Smith Barney LLC whose 7-year- old son has the condition -- has backed work at the University of Southern California in Los Angeles. The research has produced a potential drug.
The approach has garnered $26 million in venture capital from Boston-based Third Rock Ventures to form a company and move the therapy in human trials.
No Budget on Life
“The skills I developed professionally matter a lot for this,” Silver says. “Just like investing, you are allocating capital to the projects that have the highest probability of success and the lowest probability of failure in the quickest time frame.”
For Singh, the effort to save Arya is a family affair, and he promises to spend as much money as necessary. Singh’s wife, Loren Eng, has a Master of Business Administration from Stanford University and works fulltime leading the foundation.
The eight-member staff includes former researchers from Roche Holding AG (ROG) and Pfizer.
While Arya has a mild form of SMA, she has gotten weaker. She has trouble lifting her arms above her head and needs fulltime nursing. Every cold is a threat because her frail lung muscles put her at risk for pneumonia.
“I don’t think there is a budget on your daughter’s life,” Singh says. “As long as there is a chance of doing something and we have the ability to do it, we will do it.”
‘In Tears’
Singh, who won’t disclose his compensation, says his fund returned 60 percent in the six-and-a-half years since he started it on Feb. 1, 2005. That’s more than double the Standard & Poor’s 500 Index’s 25 percent return during the period.
Arya, the oldest of Singh and Eng’s three children, was born in March 2000 and developed normally at first. She was slow to walk, however, taking her first wobbly steps at 15 months. Within months, she began regressing. A doctor friend saw Arya’s stiff gait at a party in August 2001 and told them to get it checked out right away.
Eng had become pregnant again, and two days before her delivery date, she got an abrupt call from the neurologist confirming the worst about Arya.
“Loren called me in tears,” Singh remembers. “I was saying: ‘What does it mean? What does it mean?’ She said the doctor didn’t say anything. She has SMA. That’s it.” Singh and Eng spent the next days in a frantic race to figure out the prognosis -- and to discover whether their second child, Kiran, also had SMA. He didn’t.
‘Untreatable, Incurable, Fatal’
“When we found out about it, we were told it was untreatable, incurable and fatal,” Singh says.
De Vivo, the Columbia University neurologist, met the couple and explained that children like Arya have defects in or are missing a gene called SMN, discovered only in 1995. It directs cells to make a protein necessary for neurons that control muscles.
He introduced them to Columbia colleague Thomas Jessell, a motor neuron biology expert. They also met Gerald Fischbach, a neuroscientist and then dean of Columbia’s health sciences and medicine faculty. All three became key advisers to the SMA Foundation.
“I met them and decided that SMA was a perfect disorder to mount a major attack on,” says Fischbach, who’s now scientific director for the Simons Foundation Autism Research Initiative. “The science was ripe.”
‘Truly Solve It’
At first Singh and Eng had planned to back existing charities, such as Families of Spinal Muscular Atrophy. They gave $750,000 in May 2002 to fund a clinic at Columbia. In 2006, they agreed to give as much as $15 million to help fund a motor neuron research center at the university.
The more they learned, the more they became convinced that, unlike most neurological diseases, SMA might be conquered.
“What struck us as different about SMA was that there really seemed to be a chance to truly solve it -- and perhaps even in a time frame that could really help Arya,” Singh says.
A quirk in the genetics of SMA increased their hope. In many inherited diseases, a crucial gene is missing or defective and the protein it makes is absent or doesn’t work. In SMA, the body has a backup gene that produces small amounts of the SMN protein. That’s why children with the disease live at all.
By the time Singh and Eng became involved, an idea with potential to help SMA sufferers was already being discussed in the medical literature: If someone could find a chemical that could safely boost the availability of the backup protein, that discovery could form the basis of a drug. Yet as far as they could tell, no large drug or biotech company was focused on SMA.
‘Terrible Gap’
“You had this terrible gap,” Singh says. “There was no one saying, let us take these interesting discoveries and come up with something that could be a drug.”
The couple started the foundation in 2003. Equipped with PowerPoint presentations that showed why SMA was a lower research risk than most genetic diseases that could yield a drug with $1 billion in annual sales, they approached more than a dozen companies. It was a hard sell.
At the American Academy of Neurology conference in 2004, only three of seven biotech companies they invited showed up.
“There was never an outright no,” Eng says. Instead, “polite conversations went nowhere or calls were not returned.”
To her, it seemed drugmakers were focused on heart disease, cancer or diabetes and their significant commercial markets. The NIH alone spends $5.8 billion a year on cancer research.
‘A Buzz’
Singh and Eng started paying small biotech companies to screen for chemicals that might increase the supply of the SMN protein. They, along with other SMA charities, also funded Adrian Krainer, a researcher at Cold Spring Harbor Laboratory on Long Island in New York. He was working on a technology that had shown some promise, even though the foundation’s scientific advisers said the approach was a long shot.
“There was a buzz; there was this new couple, they are very wealthy, people thought they were in a position to make a difference,” says Krainer, who met Arya in 2002 when she could still walk.
For the next few years, the foundation backed research testing dozens of existing drugs to see if any of them increased the SMN protein. The scientific advisers got together in 2008 for a meeting at the Ritz-Carlton hotel in Half Moon Bay, California.
“It was the most-depressing meeting ever,” Eng recalls. “It was clear we had nothing.”
‘Huge Implications’
By then, Arya was in a wheelchair. At this point, the SMA Foundation had captivated Novartis. In 2002, the company had appointed Fishman, a scientist and former Harvard Medical School professor, to direct research operations.
He says one idea was that success in treating rare genetic diseases might pave the way for dealing with more-common ones. Columbia’s Jessell and Fischbach pitched him on SMA in 2005.
“It seemed tractable from a scientific point of view, with potentially huge implications on health,” Fishman says. “Others weren’t working on it, which is another good reason to do it.”
Still, it wasn’t until November 2007 that Novartis began its effort. It started with neurobiologist Rajeev Sivasankaran and a few assistants. Sivasankaran, 41, designed a quick way to test the more than 1 million compounds in Novartis’s collection of chemicals to see if any had potential for SMA. A compound with some modest effect could become a starting point for a safe and effective medicine.
‘Full-Court Press’
Novartis was lucky. By December 2009, the researchers had found a drug that improved motor function in mice with SMA.
“That got the whole group excited,” Sivasankaran says. The SMA Foundation and Novartis scientists get together every three months to review progress. At a June 1 meeting, researchers from the foundation, Novartis, Columbia and Harvard crowded into a conference room to hear the latest results.
“It is a full-court press,” Fishman says. “We are pushing as hard as we can.”
Still, Novartis human trials are two years off at best, Fishman says.
Meantime, Repligen Corp. (RGEN), a Waltham, Massachusetts-based biotechnology company, in July began an initial safety test of its SMA drug on people. It licensed this drug from the charity Families of SMA, based in Elk Grove Village, Illinois.
More Efforts
Singh’s foundation is closing in with two more efforts. PTC Therapeutics last year found compounds that boost the life span of mice with the disease. The company could begin human trials in late 2012, Chief Executive Officer Stuart Peltz says.
“It is absolutely incredible,” he says. Mice that would otherwise barely be able to move look normal with PTC’s drug, he says.
Singh and Eng say they’re particularly excited by Isis Pharmaceuticals’ progress, based on work by Krainer at Cold Spring Harbor. Isis published data in March showing that its drug could boost motor neuron levels -- and survival -- in mice with SMA. The medicine, which is injected into spaces around the spine, corrects the defect that causes the backup gene to produce too little protein.
“I have been doing drug development half of my life,” says Roy Vagelos, former Merck & Co. CEO, who has followed the SMA Foundation’s research. “This will be the first time if it works that a family had gotten behind a problem, a genetic defect in their own family, and come up with a solution.”
Arya is very aware of her illness and the battles to conquer it, even though she doesn’t like to talk about it, Singh says. She often asks her parents what her adult life will be like and why she has to be sick.
“Trying to understand what this all means is a big deal now,” Singh says.
Arya’s Homework
For a homework assignment last year on Egyptian mythology, Arya imagined a goddess of illness.
“She thinks of cures for sicknesses and puts hints for these cures in people’s minds,” Arya wrote. “She has a puppy face, puppy paws, human body and is always thinking of cures.” Eng sent a copy of her daughter’s essay to Novartis’s Fishman.
“It hits you right where you live,” he says. “That kind of innocent gratitude is the most wonderful reward you can get.”
To contact the reporters responsible for this story: Robert Langreth in New York at rlangreth@bloomberg.net; Alex Nussbaum in New York anussbaum1@bloomberg.net.
To contact the editor responsible for this story: Michael Waldholz at mwaldholz@bloomberg.net
Thursday, August 4, 2011
Disabled visitors left high and dry on area beaches
Disabled visitors left high and dry on area beaches
Brad Fisher pushes daughter Shira’s stroller-wheelchair up an uneven pathway from Willows Beach.
Emma Prestwich/News staff
By Emma Prestwich - Oak Bay News
Published: August 02, 2011 10:00 AM
Brad Fisher pants as he heaves his daughter Shira’s specialized stroller-wheelchair up the steep, uneven sand path from Willows Beach.
He enlists the help of caregiver Stephanie Davidson to pull the stroller up backwards, then pushes it the last few feet himself.
Several short stairwells can be found along the length of the beach, but the rough-hewn little trail is the family’s only access down to the sand, where six-year-old Shira, who has the genetic disorder spinal muscular atrophy, loves to play.
Fisher and his daughter have tried out many beaches in the region. Even with its bumpy
path, Willows is the only one that comes close to being friendly to Shira’s specialized wheelchair. It’s also ideal because of the hard-packed sand, rarely found on other shorelines.
Fisher is angry that public beaches are so difficult to access for people with disabilities, and doesn’t think adapting them would be hard.
“They might say ‘well, we could make a ramp there, but what are they going to do when they hit the sand?’” he said.
“You leave (manoeuvring a wheelchair on the beach) up to us, but at least we’ll be able to get down to the sand.”
Tamara Lohner’s daughter, Charlotte, has the same condition as Shira. Even though they live downtown, they usually head to Thetis Lake Park because it is the only lake with stroller-friendly access.
Visits to Willows in the past saw Lohner forced to carry Charlotte and leave the stroller behind.
“It’s hard; she’s like a really heavy, wet noodle,” Lohner said.
Having a full-time job and a son with Down syndrome leaves her little time to worry about beach access. “I just don’t think about it that much.”
There are currently no plans to improve accessibility at Willows Beach, said Oak Bay parks manager Lorne Middleton. He noted a low, sloping path leads to the water at the base of Estevan Avenue.
But Fisher said large logs washed up on the path during the winter, making it a two-person job to hoist Shira’s chair over the logs. Middleton said he wasn’t aware the path was blocked and would address the issue.
The Capital Regional District website (www.crd.bc.ca) lists three beaches with accessible elements: East Sooke Regional Park, Elk/Beaver Lake Park and Island View Beach. Only Beaver Lake has a path leading to the water, and has an accessible fishing float and boat launch.
There is also a ramp leading to the beach near Clover Point.
Many Capital Region municipalities consider accessibility when planning for parks and public spaces.
But it’s hit or miss when it comes to specific guidelines.
The City of Victoria doesn’t have any official policy relating to beach accessibility, said
Todd Stewardson, acting assistant director of parks.
“We’re not discouraging it, but we’re more focused on maintenance of the natural area,” he said.
Beaches are dealt with differently than parks, he said. Many factors come into play when adapting them, such as the specifications for the slope of a ramp and measuring its impact on the surrounding environment.
Saanich parks manager Rae Roer says Gyro Park beach has gentle trails that lead from the parking lot to the sand. He tries to ensure there’s always a clear route to the beach. But he also doesn’t want changes to “sanitize” the beach. “We tend to manage beaches in a fairly natural, wild, West Coast style,” he said.
Joanne Neubauer, president of the Action Committee of People with Disabilities, said improvements don’t have to ruin a beach’s natural charm. “There are so many ways to achieve accessibility that wouldn’t necessarily change the overall atmosphere of the park,” she said.
Many beaches, such as the inlet by Mount Douglas and the stretch along Dallas Road, have steep approaches and would be harder to adapt. But Neubauer, who uses a motorized wheelchair, said there are several that are fairly flat.
“I know there are geographic constraints, but there are other beaches where that’s not the case, and they still haven’t made any effort to make sure everyone can access the beach.”
She suggested a ramp could be cut out of the concrete walkway that runs alongside Willows Beach. “It doesn’t always involve rocket science.”
Tuesday, May 4, 2010
Advances in supportive care have altered the natural history of SMATherapeutic developments in spinal muscular atrophy Sage Pub. April 2010
Advances in supportive care have altered
the natural history of SMA
Any review of therapy for SMA would be remiss
without a discussion of the important and evolving
role of multidisciplinary supportive care.
SMA leads to predominantly proximal muscle
atrophy and weakness, and the potential for medical
complications such as scoliosis, joint contractures
and ventilatory impairment [Wang et al.
2007]. This latter complication is primarily the
result of respiratory muscle weakness, which
prevents the normal expansion and clearance of
the lungs leading to a restrictive defect. In recent
years, advances in pulmonary care and the
increasing application of noninvasive ventilatory
support has dramatically improved the morbidity
and mortality associated with pulmonary decline,
particularly among children with severe (type 1
and 2) disease phenotypes [Oskoui et al. 2007;
Bach et al. 2001, 2000]. Improvements in physical
therapy management and advances in surgical
approaches to scoliosis, including the use of
vertical expandable prosthetic titanium rib and
related ‘growing rods’ approaches [Hell et al.
2005], have allowed a more effective and timely
management of secondary musculoskeletal complications.
The optimization of nutritional management
to avoid potential complications arising
from both malnutrition [Messina et al. 2008] and
obesity [Sproule et al. 2009] has also emerged as
an area of increased attention in recent years
[Wang et al. 2007].
In the context of such advances to supportive
care, a notable improvement in the natural history
of SMA has been observed over the last two
decades despite an absence of efficacious therapy;
this is particularly true for children with SMA
type 1. Byers and Banker described 25 such subjects
in 1961 with a mean age at death (n¼23) of
10 months (range 17 days to 52 months), and a
mean age of 17 months in those who survived
(n¼2), range 10 24 months [Byers and
Banker, 1961]. A similar report by Zerres and
Rudnik-Schoneborn published in 1995 found a
survival probability of 32% at 2 years, of 18% at 4
years, of 8% at 10 years, and of 0% at 20 years
among 197 children with SMA type 1 [Zerres
and Rudnik-Schoneborn, 1995]. A recent analysis
of 143 patients with SMA type 1, comparing
those born from 1980 to 1994 (n¼65) with those
born between 1995 and 2006 (n ¼ 78) showed a
70% reduction in risk of death in the latter group,
likely associated with improvements in clinical
management, particularly with regards to noninvasive
ventilatory management [Bach, 2007;
Bach and Bianchi, 2003; Bach et al. 2000], and
a trend toward more proactive care [Oskoui et al.
2007]. While recent efforts have been made to
standardize clinical care with the publication of
a consensus statement of care for patients with
SMA [Wang et al. 2007], variability of clinical
care between centers and the evolving natural
history of the disease can both represent challenges
for trial design, as we discuss below.
Anyone wanting the full research paper send me an email to asonginthisworld@gmail.com and i'll send it to you.
the natural history of SMA
Any review of therapy for SMA would be remiss
without a discussion of the important and evolving
role of multidisciplinary supportive care.
SMA leads to predominantly proximal muscle
atrophy and weakness, and the potential for medical
complications such as scoliosis, joint contractures
and ventilatory impairment [Wang et al.
2007]. This latter complication is primarily the
result of respiratory muscle weakness, which
prevents the normal expansion and clearance of
the lungs leading to a restrictive defect. In recent
years, advances in pulmonary care and the
increasing application of noninvasive ventilatory
support has dramatically improved the morbidity
and mortality associated with pulmonary decline,
particularly among children with severe (type 1
and 2) disease phenotypes [Oskoui et al. 2007;
Bach et al. 2001, 2000]. Improvements in physical
therapy management and advances in surgical
approaches to scoliosis, including the use of
vertical expandable prosthetic titanium rib and
related ‘growing rods’ approaches [Hell et al.
2005], have allowed a more effective and timely
management of secondary musculoskeletal complications.
The optimization of nutritional management
to avoid potential complications arising
from both malnutrition [Messina et al. 2008] and
obesity [Sproule et al. 2009] has also emerged as
an area of increased attention in recent years
[Wang et al. 2007].
In the context of such advances to supportive
care, a notable improvement in the natural history
of SMA has been observed over the last two
decades despite an absence of efficacious therapy;
this is particularly true for children with SMA
type 1. Byers and Banker described 25 such subjects
in 1961 with a mean age at death (n¼23) of
10 months (range 17 days to 52 months), and a
mean age of 17 months in those who survived
(n¼2), range 10 24 months [Byers and
Banker, 1961]. A similar report by Zerres and
Rudnik-Schoneborn published in 1995 found a
survival probability of 32% at 2 years, of 18% at 4
years, of 8% at 10 years, and of 0% at 20 years
among 197 children with SMA type 1 [Zerres
and Rudnik-Schoneborn, 1995]. A recent analysis
of 143 patients with SMA type 1, comparing
those born from 1980 to 1994 (n¼65) with those
born between 1995 and 2006 (n ¼ 78) showed a
70% reduction in risk of death in the latter group,
likely associated with improvements in clinical
management, particularly with regards to noninvasive
ventilatory management [Bach, 2007;
Bach and Bianchi, 2003; Bach et al. 2000], and
a trend toward more proactive care [Oskoui et al.
2007]. While recent efforts have been made to
standardize clinical care with the publication of
a consensus statement of care for patients with
SMA [Wang et al. 2007], variability of clinical
care between centers and the evolving natural
history of the disease can both represent challenges
for trial design, as we discuss below.
Anyone wanting the full research paper send me an email to asonginthisworld@gmail.com and i'll send it to you.
Friday, February 26, 2010
Great Videos Explaining What SMA Is
Here are some excellent videos by FightSma that explain what SMA is. Shira has SMA type 1.
An Introduction to Spinal Muscular Atrophy - Dr. Bob Leshner
http://www.youtube.com/watch?v=-DgUVrvrNfs&feature=youtu.be
Spinal Muscular Atrophy Type 1 - Dr. Bob Leshner
http://www.youtube.com/watch?v=QRJ2pxVxUQw&feature=related
Spinal Muscular Atrophy Type 2 - Dr. Bob Leshner
http://www.youtube.com/watch?v=w_hyHQUwhco&feature=related
Spinal Muscular Atrophy Type 3 and Type 4 - Dr. Bob Leshner
http://www.youtube.com/watch?v=-Geojki_Hn8&feature=related
An Introduction to Spinal Muscular Atrophy - Dr. Bob Leshner
http://www.youtube.com/watch?v=-DgUVrvrNfs&feature=youtu.be
Spinal Muscular Atrophy Type 1 - Dr. Bob Leshner
http://www.youtube.com/watch?v=QRJ2pxVxUQw&feature=related
Spinal Muscular Atrophy Type 2 - Dr. Bob Leshner
http://www.youtube.com/watch?v=w_hyHQUwhco&feature=related
Spinal Muscular Atrophy Type 3 and Type 4 - Dr. Bob Leshner
http://www.youtube.com/watch?v=-Geojki_Hn8&feature=related
Tuesday, February 16, 2010
Sophia Doebbert and Dr. Mary Schroth, Our American Family Children's Hospital
There are some doctors that are real heroes. Dr. Mary Schroth is one of these heroes. Rarely do you see this amount of compassion from a Doctor but Dr. Schroth really cares about all her patients so much. Maxine flew to Wisconsin to meet with her because we were advised by Doctors at B.C. Children's Hospital not to contact U.S. doctors because they wouldn't be there for us in our time of need. Maxine was met at the door of the hospital by Dr. Schroth and the social worker. Dr. Schroth (the for profit doctor) spent 3 hours with Maxine.
While we witness children failing extubation all over the U.S. we see them flown to Wisconsin to be succesfully extubated. Doctor Schroth sees our children as human beings that are valued members of our society.
This video is of Sophia Doebbert from Minnesota. Though we haven't met her we feel very close to this family. Doug and Andrea have been great support for us sharing their knowledge and just being there for us, to listen to us. Watch this video
http://ourkids.uwhealth.org/stories/entry/beyond-expectations-the-sophia-dobbert-story/
While we witness children failing extubation all over the U.S. we see them flown to Wisconsin to be succesfully extubated. Doctor Schroth sees our children as human beings that are valued members of our society.
This video is of Sophia Doebbert from Minnesota. Though we haven't met her we feel very close to this family. Doug and Andrea have been great support for us sharing their knowledge and just being there for us, to listen to us. Watch this video
http://ourkids.uwhealth.org/stories/entry/beyond-expectations-the-sophia-dobbert-story/
Sunday, February 7, 2010
What Is a Life Worth? Research on the cost-effectiveness of medical treatments pits our emotions against our pocketbooks.
What Is a Life Worth?
Research on the cost-effectiveness of medical treatments pits our emotions against our pocketbooks.
By Sharon Begley | Newsweek Web Exclusive
Feb 5, 2010
This is the kind of news that unleashes hysteria about "death panels" and "health-care rationing," but here goes: an analysis of genetic screening for an incurable, untreatable disease called spinal muscular atrophy shows that it would cost $4.7 million to catch and avert one case, compared with $260,000 to provide lifetime care for a child born with it. So here's the question: do we say, "Damn the cost; it is worth any price to spare a single child the misery of being unable to crawl, walk, swallow, or move his head and neck"—or do we, as a society, put on the green eyeshades and say, "No, sorry, we can't afford routine screening"?
Just to be clear, this is not about comparative-effectiveness research, which analyzes whether treatments work and which ones work best, without regard to cost. In contrast, studies of cost effectiveness, like this one, take something that works and ask whether the cost is worth the benefit. There is no question that screening for the genetic mutation that causes spinal muscular atrophy works, in that screening detects the mutation in 95 percent of those whose DNA has it. If a couple decides not to conceive (if they were screened before trying to start a family, they can instead use donor sperm, for instance), to implant only healthy embryos (if they are using in vitro fertilization), or to terminate the pregnancy, then a child with SMA is not born.
The study presented Thursday at the Society for Maternal-Fetal Medicine’s annual meeting starts from this "screening works" premise. What, asked Sarah Little of Massachusetts General Hospital and her colleagues, would be the costs and benefits of universal screening?
Here's the numbers-heavy paragraph. One in 50 Americans carries an SMA mutation. Because carrying one copy of the mutated gene causes no symptoms, people don't know if they're carriers (though having relatives with SMA should raise suspicions). If two carriers conceive a child, however, there is a 25 percent chance the child will have SMA, which is the most common genetic cause of infant mortality. About 1 in 10,000 babies are born with SMA. Of those children, 70 percent have a severe form of the disease, in which newborns are limp and floppy, cannot lift their heads, and have difficulty rolling over, sucking, and even swallowing. Universal screening detects 95 percent of carriers, and 2 percent of babies born with SMA have the disease even though neither mom nor dad is a carrier (the gene mutated after conception). Screening costs just over $400 and lifetime care for someone with severe SMA costs $260,000. For an individual, that seems like a great deal. But throw all of this into a calculator for society as a whole, and the answer is this: 11,000 women would have to be screened to prevent one case of SMA, at a cost of $4.7 million per case averted.
Since the $4.7 million cost of averting one case of SMA swamps the cost of having a child with SMA, the brutal conclusion is that "screening everyone for SMA is not cost-effective," concluded Little and her colleagues. Only in people with a high risk of the disease, such as those with a family history of SMA, might it make sense.
Screening for SMA has been controversial for years. In November 2008, the American College of Medical Genetics recommended making carrier screening for SMA available to all families. But last May, the American College of Obstetricians and Gynecologists came out against preconception and prenatal screening for everyone, largely because you would have to test so many couples to avert a single case of SMA. The appeal of screening for genetic diseases seems obvious, however, and new companies are springing up to give parents-to-be the assurance they want.
So here's the issue. What if an insurer or (horrors!) "Obama-care" refused to cover SMA screening because it is not cost-effective? Judging by the hue and cry over the very idea of using cost-effectiveness to make coverage decisions (something that was never in any of the health-care bills), millions of people would be appalled—especially once the first SMA baby was born after his parents' insurer refused to pay for a genetic test. Unconsciously or implicitly, then, many of us are in favor of paying $4.7 million to let a couple know that their fetus has SMA. But as we've seen in the public hostility toward health-care reform, there is deep ambivalence about how much of our hard-earned money we are willing to spend to avert preventable deaths in people who die because they do not have health insurance. For many Americans, that answer seems to be "not one dime." It's the old story: we respond to specific cases of tragedy when they come with a name and a face, but grow cold and uncaring when the unfortunate are nameless masses.
More such cost-effectiveness analyses of various medical treatments are in the works. The question is, how will American doctors, insurers, patients, and others use the information? Research has already shown that digital mammography, for instance, is not cost-effective compared to plain old film mammograms, but because of the power of breast-cancer groups, insurers have been loath to tell patients, "no, sorry, not worth it." And when Britain uses such analyses to decide what its National Health Service will pay for, Americans go crazy. (This fear is the basis for the false claim in ads featuring former surgeon general C. Everett Koop that he, as a 93-year-old, would not be allowed to receive a pacemaker or joint replacement under the British system.) At least the Brits apply the guidelines about what a life is worth consistently.
Sharon Begley is NEWSWEEK's science editor and author of The Plastic Mind: New Science Reveals Our Extraordinary Potential to Transform Ourselvesand Train Your Mind, Change Your Brain: How a New Science Reveals Our Extraordinary Potential to Transform Ourselves.
Find this article at http://www.newsweek.com/id/233123
Research on the cost-effectiveness of medical treatments pits our emotions against our pocketbooks.
By Sharon Begley | Newsweek Web Exclusive
Feb 5, 2010
This is the kind of news that unleashes hysteria about "death panels" and "health-care rationing," but here goes: an analysis of genetic screening for an incurable, untreatable disease called spinal muscular atrophy shows that it would cost $4.7 million to catch and avert one case, compared with $260,000 to provide lifetime care for a child born with it. So here's the question: do we say, "Damn the cost; it is worth any price to spare a single child the misery of being unable to crawl, walk, swallow, or move his head and neck"—or do we, as a society, put on the green eyeshades and say, "No, sorry, we can't afford routine screening"?
Just to be clear, this is not about comparative-effectiveness research, which analyzes whether treatments work and which ones work best, without regard to cost. In contrast, studies of cost effectiveness, like this one, take something that works and ask whether the cost is worth the benefit. There is no question that screening for the genetic mutation that causes spinal muscular atrophy works, in that screening detects the mutation in 95 percent of those whose DNA has it. If a couple decides not to conceive (if they were screened before trying to start a family, they can instead use donor sperm, for instance), to implant only healthy embryos (if they are using in vitro fertilization), or to terminate the pregnancy, then a child with SMA is not born.
The study presented Thursday at the Society for Maternal-Fetal Medicine’s annual meeting starts from this "screening works" premise. What, asked Sarah Little of Massachusetts General Hospital and her colleagues, would be the costs and benefits of universal screening?
Here's the numbers-heavy paragraph. One in 50 Americans carries an SMA mutation. Because carrying one copy of the mutated gene causes no symptoms, people don't know if they're carriers (though having relatives with SMA should raise suspicions). If two carriers conceive a child, however, there is a 25 percent chance the child will have SMA, which is the most common genetic cause of infant mortality. About 1 in 10,000 babies are born with SMA. Of those children, 70 percent have a severe form of the disease, in which newborns are limp and floppy, cannot lift their heads, and have difficulty rolling over, sucking, and even swallowing. Universal screening detects 95 percent of carriers, and 2 percent of babies born with SMA have the disease even though neither mom nor dad is a carrier (the gene mutated after conception). Screening costs just over $400 and lifetime care for someone with severe SMA costs $260,000. For an individual, that seems like a great deal. But throw all of this into a calculator for society as a whole, and the answer is this: 11,000 women would have to be screened to prevent one case of SMA, at a cost of $4.7 million per case averted.
Since the $4.7 million cost of averting one case of SMA swamps the cost of having a child with SMA, the brutal conclusion is that "screening everyone for SMA is not cost-effective," concluded Little and her colleagues. Only in people with a high risk of the disease, such as those with a family history of SMA, might it make sense.
Screening for SMA has been controversial for years. In November 2008, the American College of Medical Genetics recommended making carrier screening for SMA available to all families. But last May, the American College of Obstetricians and Gynecologists came out against preconception and prenatal screening for everyone, largely because you would have to test so many couples to avert a single case of SMA. The appeal of screening for genetic diseases seems obvious, however, and new companies are springing up to give parents-to-be the assurance they want.
So here's the issue. What if an insurer or (horrors!) "Obama-care" refused to cover SMA screening because it is not cost-effective? Judging by the hue and cry over the very idea of using cost-effectiveness to make coverage decisions (something that was never in any of the health-care bills), millions of people would be appalled—especially once the first SMA baby was born after his parents' insurer refused to pay for a genetic test. Unconsciously or implicitly, then, many of us are in favor of paying $4.7 million to let a couple know that their fetus has SMA. But as we've seen in the public hostility toward health-care reform, there is deep ambivalence about how much of our hard-earned money we are willing to spend to avert preventable deaths in people who die because they do not have health insurance. For many Americans, that answer seems to be "not one dime." It's the old story: we respond to specific cases of tragedy when they come with a name and a face, but grow cold and uncaring when the unfortunate are nameless masses.
More such cost-effectiveness analyses of various medical treatments are in the works. The question is, how will American doctors, insurers, patients, and others use the information? Research has already shown that digital mammography, for instance, is not cost-effective compared to plain old film mammograms, but because of the power of breast-cancer groups, insurers have been loath to tell patients, "no, sorry, not worth it." And when Britain uses such analyses to decide what its National Health Service will pay for, Americans go crazy. (This fear is the basis for the false claim in ads featuring former surgeon general C. Everett Koop that he, as a 93-year-old, would not be allowed to receive a pacemaker or joint replacement under the British system.) At least the Brits apply the guidelines about what a life is worth consistently.
Sharon Begley is NEWSWEEK's science editor and author of The Plastic Mind: New Science Reveals Our Extraordinary Potential to Transform Ourselvesand Train Your Mind, Change Your Brain: How a New Science Reveals Our Extraordinary Potential to Transform Ourselves.
Find this article at http://www.newsweek.com/id/233123
Friday, February 5, 2010
Respiratory Care Options For Children With Neuromuscular Weakness by Dr. Mary Schroth
This is a very important video to watch if you want to have a deeper understanding of the treatment and care of SMA or Spinal Muscular Atrophy. Dr. Schroth goes through all the modes of care from daily care to intubation and extubation, non invasive vs. tracheotomy, and more a must watch!! click on the link below to watch the video
http://nch.dataserv.tv/NCH/Viewer/Viewers/Viewer240TL3Banner.aspx?mode=Default&peid=7c4f6f16-f662-46d3-b323-d41ca2851670&playerType=Port25&mode=Default&shouldResize=true&pid=b309b7a4-eb87-404d-805a-90e73efbaafd&playerType=Port25#
http://nch.dataserv.tv/NCH/Viewer/Viewers/Viewer240TL3Banner.aspx?mode=Default&peid=7c4f6f16-f662-46d3-b323-d41ca2851670&playerType=Port25&mode=Default&shouldResize=true&pid=b309b7a4-eb87-404d-805a-90e73efbaafd&playerType=Port25#
Sunday, January 17, 2010
Vote for a cure for SMA and Shira!!!!!
Brad Fisher
Dear family and friends on facebook. Please vote at http://www.voteforsma.comBy voting for the Gwendolyn Strong Foundation this charity will donate 100% of the $1,000,000 proceeds to SMA
research. This research could save our daughter Shira's life. It is free to vote and only takes a moment. ... Please pass this along to your friends. Thank you from the bottom of our hearts. Please paste this on your face book page and pass it along to all your friends. Thank you. Brad
Dear family and friends on facebook. Please vote at http://www.voteforsma.comBy voting for the Gwendolyn Strong Foundation this charity will donate 100% of the $1,000,000 proceeds to SMA
research. This research could save our daughter Shira's life. It is free to vote and only takes a moment. ... Please pass this along to your friends. Thank you from the bottom of our hearts. Please paste this on your face book page and pass it along to all your friends. Thank you. Brad
Saturday, January 9, 2010
One of those weeks when you can feel yourself age
This week was another one of those weeks when you can feel yourself age. People look at you and say, “you look tired.” 2 weeks ago Shira started to get fevers off and on and by last Friday Shira was definitely sick. Last Saturday Shira crashed hard (lost her vital signs) from a mucous plug. There is always a fine line when working on a child in this type of emergency situation. These crashes are also known as extreme bradychardia. One minute you look at your child and they are smiling at you and the next minute there pupils are dilated and they are struggling with all their might to breath. If you don’t get your child breathing chances are by the time the emergency services show up at your door and start CPR or intubate your child they are going to have brain damage so I have made it a priority to become an expert at resuscitating Shira when in respiratory arrest.
I have heard enough stories and paid close enough attention to the bad experiences of other families with SMA Type 1 children to really put some effort into becoming proficient in resuscitating Shira. I haven’t had to give chest compressions to Shira because her heart has never stopped from these episodes but her saturation levels have reached into her 60’s for her heart rate and as low for her oxygen which is all very bad. You have to work fast and I have to say it’s terrifying watching your child slip away before your eyes. We have been to this place with Shira many many times and I know how she is going to die, I understand what it’s going to be like I just want to be there holding her in my arms. I don’t want to be away from her when this happens. When Shira was in respiratory arrest this time we worked on her hard and fast and there is a fine line as to how hard you can work on a child before you create other complications like vomiting. Unfortunately my over zealousness in this situation caused me to make Shira vomit which meant I had to quickly open her g-tube turn her on her side and deep suction her orally. So the poor kid was now in respiratory arrest and possibly aspirating vomit which can lead to bacterial pneumonia and serious complications and or damaged lungs and possible death. All us SMA parents are scared of the complications vomiting can bring. I stabilized Shira quite quickly but needless to say the poor girl was wiped out.
Shira’s saturation levels returned back to baseline of 100% for O2 but her heart rate was in the 160’s. We chose to stay home until morning so we spoke to the pediatric intensive care unit and told them we would hold off until morning and see how things go. The next day (I believe Sunday) Shira was on day 3 of fever and still had a very high heart rate. We didn’t want to chance the high heart rate was brought on by complications due to aspiration of vomit so we called the ambulance and headed into the PICU. The PICU was totally empty which is nice so we didn’t have to worry as much that Shira could contract other diseases. Shira was tested for Respiratory Synctal Virus (she had this at 6 months and 3 years of age and both times it was very very bad!) H1N1 and influenza A and B and all tests came back negative.
While in the PICU we also had a lot of blood work done on Shira to check how her diet was affecting her as well as her blood gases to check how well she was being ventilated.
It turns out Shira’s diet is spot on but she was over ventilated which was causing extremely low CO2 levels. We also have made arrangements to meet with an RT that will be bringing over a bunch of new bipap masks so we can replace the mask Shira has used since she was 6 months old.
While in the PICU we give Shira Chest Physio Therapy sessions every 4 hours or as needed around the clock; sleep deprivation torture won’t work on me anymore so if I get captured by extremists of some kind they will have to tickle me or something instead. While I hate to be in the intensive care unit with Shira I do enjoy the staff there and the support they give us is second to none! You get the full attention of 3 nurses and 1 doctor and there is no messing about it’s serious business in the PICU. We are very grateful to all of the staff and Dr. Jeff and Dr. Amanda (as Shira calls them). It’s a good feeling to have a team behind you that when things get at their ugliest you have a place to go and know Shira will be well taken care of. It’s amazing the work the PICU staff does on a daily basis, real life and death work!
So after 5 tiring days we are back home and thankful that our Sweet Pea is still with us, laughing, playing, singing. Shira teaches us how fragile life is and we give thanks for this life and time we have together as a family.
Sammy is doing well but the signs of stress are sometimes evident but all in all he is doing quite well. His teacher at school is an amazing person and very nurturing towards Sammy and what he has to live with and she gives him extra attention which we are so thankful for.
We are still downstairs as Sammy just has a nasty cough that isn’t going away and we just can’t take the chance that he might catch something else and spread it to Shira so we are down in Chez Shira for a while.
Shira is able to come off bipap now after his illness so today we went out for about an hour to get some fresh air and play with Sammy and some other kids at the park. “And that’s all I have to say about that.”
I have heard enough stories and paid close enough attention to the bad experiences of other families with SMA Type 1 children to really put some effort into becoming proficient in resuscitating Shira. I haven’t had to give chest compressions to Shira because her heart has never stopped from these episodes but her saturation levels have reached into her 60’s for her heart rate and as low for her oxygen which is all very bad. You have to work fast and I have to say it’s terrifying watching your child slip away before your eyes. We have been to this place with Shira many many times and I know how she is going to die, I understand what it’s going to be like I just want to be there holding her in my arms. I don’t want to be away from her when this happens. When Shira was in respiratory arrest this time we worked on her hard and fast and there is a fine line as to how hard you can work on a child before you create other complications like vomiting. Unfortunately my over zealousness in this situation caused me to make Shira vomit which meant I had to quickly open her g-tube turn her on her side and deep suction her orally. So the poor kid was now in respiratory arrest and possibly aspirating vomit which can lead to bacterial pneumonia and serious complications and or damaged lungs and possible death. All us SMA parents are scared of the complications vomiting can bring. I stabilized Shira quite quickly but needless to say the poor girl was wiped out.
Shira’s saturation levels returned back to baseline of 100% for O2 but her heart rate was in the 160’s. We chose to stay home until morning so we spoke to the pediatric intensive care unit and told them we would hold off until morning and see how things go. The next day (I believe Sunday) Shira was on day 3 of fever and still had a very high heart rate. We didn’t want to chance the high heart rate was brought on by complications due to aspiration of vomit so we called the ambulance and headed into the PICU. The PICU was totally empty which is nice so we didn’t have to worry as much that Shira could contract other diseases. Shira was tested for Respiratory Synctal Virus (she had this at 6 months and 3 years of age and both times it was very very bad!) H1N1 and influenza A and B and all tests came back negative.
While in the PICU we also had a lot of blood work done on Shira to check how her diet was affecting her as well as her blood gases to check how well she was being ventilated.
It turns out Shira’s diet is spot on but she was over ventilated which was causing extremely low CO2 levels. We also have made arrangements to meet with an RT that will be bringing over a bunch of new bipap masks so we can replace the mask Shira has used since she was 6 months old.
While in the PICU we give Shira Chest Physio Therapy sessions every 4 hours or as needed around the clock; sleep deprivation torture won’t work on me anymore so if I get captured by extremists of some kind they will have to tickle me or something instead. While I hate to be in the intensive care unit with Shira I do enjoy the staff there and the support they give us is second to none! You get the full attention of 3 nurses and 1 doctor and there is no messing about it’s serious business in the PICU. We are very grateful to all of the staff and Dr. Jeff and Dr. Amanda (as Shira calls them). It’s a good feeling to have a team behind you that when things get at their ugliest you have a place to go and know Shira will be well taken care of. It’s amazing the work the PICU staff does on a daily basis, real life and death work!
So after 5 tiring days we are back home and thankful that our Sweet Pea is still with us, laughing, playing, singing. Shira teaches us how fragile life is and we give thanks for this life and time we have together as a family.
Sammy is doing well but the signs of stress are sometimes evident but all in all he is doing quite well. His teacher at school is an amazing person and very nurturing towards Sammy and what he has to live with and she gives him extra attention which we are so thankful for.
We are still downstairs as Sammy just has a nasty cough that isn’t going away and we just can’t take the chance that he might catch something else and spread it to Shira so we are down in Chez Shira for a while.
Shira is able to come off bipap now after his illness so today we went out for about an hour to get some fresh air and play with Sammy and some other kids at the park. “And that’s all I have to say about that.”
Tuesday, December 29, 2009
CanAssist Swing-Enabling System
Shira Fisher loves the thrill that comes from soaring through the air on a swing.
The four-year-old girl first tasted the freedom of swinging when her dad rigged a special swing for her in the backyard of their Victoria-area home. But because Shira has Spinal Muscular Atrophy, a genetic disorder that has severely affected her muscular development, she has never been able to swing anywhere else.
Shira longed to be able to swing alongside other children at some of the numerous parks in her neighborhood. While there are swings on the market for children with disabilities, none worked for Shira and could be attached and removed from a standard park swing.
"Shira's father, Brad, had an idea of what he wanted," recalls Brandon Fry, an engineering co-op student at CanAssist who was assigned to work on the request. "He already had a supportive seat designed for kids with special needs. He asked us to modify it so it could be attached easily to any park swing."
Brandon attached a seatbelt-like system to the back of the store-bought Tumble Form Chair. The chair's firm foam material safely supports a child in a reclined position, an important consideration for Shira. Then Brandon added a metal back support with two metal rods that link at both ends to a swing's two chains.
When Shira and Brad met CanAssist staff at a local park, Shira was so anxious to begin swinging that she was almost in tears. Being four, patience is not a readily available virtue at this point. But once Brandon buckled her into the new device, Shira was humming softly and smiling brightly.
"She wanted to get on it pretty quickly," says Brandon. "And once she was in, she wanted to go higher and higher."
Apparently Shira is a real adventurer, much to the chagrin of her protective dad.
Shira stayed and swung while the CanAssist crew packed up to go. Finally able to swing just like other kids, she didn't want her first adventure in the park to end too soon.
"Some people wish they could fly, some people wish they could simply swing," Shira's dad wrote to CanAssist later. "CanAssist made my daughter's wish to be able to swing with other children in any park come true. Thank you CanAssist."
Brandon ensures the seat
attaches securely to the swing. Shira's father, Brad, gives
Shira a push.
Monday, December 28, 2009
Friday, September 25, 2009
Letter Warns About Tricky Dosing With Liquid Tamiflu for Kids
Letter Warns About Tricky Dosing With Liquid Tamiflu for Kids
Published: Friday, September 25, 2009 | 6:45 AM ET
Canadian Press
(HealthDay News) - Doctors warn that parents across the country could give the wrong dose of Tamiflu to their children as treatment for the H1N1 swine flu because the dosing instructions don't always coincide with the measurement markings on the syringe that comes with the liquid medication.
The warning letter, penned by scientists from Northwestern University Feinberg School of Medicine in Chicago, Emory University in Atlanta and Weill Cornell School of Medicine in New York City and published online Wednesday in the New England Journal of Medicine, also urges doctors and pharmacists to be on the lookout for this potential dosing mismatch and to help parents figure out exactly how much Tamiflu to give their child.
The authors cite a case that they say is probably happening all over the United States: The parents of a 6-year-old girl diagnosed with the H1N1 virus received a prescription for Tamiflu Oral Suspension that told them to give her three-fourths of a teaspoon of the medicine two times a day. However, the dosing syringe inside the box was marked in milligrams. The confused parents, both of whom are health professionals, had to figure out how to convert the measurement, something most parents would find too daunting to do.
"It's an egregious error that there is a conflict in the prescription labeling instructions and the dosage device that comes in the exact same box. It's incredibly confusing to parents," letter co-author Michael Wolf, an associate professor of medicine and learning sciences at Northwestern University Feinberg School of Medicine, said in a news release from the university. "Tamiflu is one of the main courses of treatment right now for H1N1, and it is being widely used among children, even infants."
The letter's authors recommend that all pharmacies and physicians be instructed to ensure that the prescription label instructions for use are in the same dosing units as those on the measurement device.
"Parents being prescribed Tamiflu for their children need to make sure they understand exactly how to take it at the time they pick it up at the pharmacy," lead letter author Dr. Ruth Parker, a professor of medicine at Emory, said in the release.
Wolf warned that an overdose could be toxic, and an underdose could be ineffective.
And even more complex calculations might be necessary now that the U.S. Food and Drug Administration has approved Tamiflu for off-label use among children under the age of 1, because the syringe doesn't include small enough measuring increments for these youngest patients.
"We need to have a better system for ensuring there are standardized directions for administering drugs to children," letter co-author Dr. Alastair Wood, a professor of medicine and pharmacology at the Weill Cornell School of Medicine in New York City, said in the news release. "We need to move to a system where all doses are given in the same units, preferably milliliters."
Meanwhile, a report released Thursday supports recent U.S. Centers for Disease Control and Prevention recommendations not to use negative rapid test results for management of patients that may be infected with the pandemic swine flu virus.
Researchers in Connecticut assessed the performance of the rapid influenza diagnostic test (RIDT) used during outbreaks of pandemic influenza A (H1N1) at two schools in Greenwich in May 2009. Of the 63 people tested at Greenwich Hospital, infection was confirmed in 49 patients.
The results of the RIDT were compared with the reverse transcription-polymerase chain reaction assay. A low sensitivity of 47 per cent was found for the rapid test. This poor performance couldn't be explained by the clinical features of the patients or by the timing of the specimen collection, said Dr. James R. Sabetta, of the Greenwich Department of Health and the Connecticut Department of Public Health, and colleagues.
While a positive rapid test for influenza is helpful, a negative test doesn't rule out pandemic swine flu, the researchers said.
The report appears in the Sept. 25 issue of the Morbidity and Mortality Weekly Report, published by the CDC.
More information
The CDC has more about http://www.cdc.gov/h1n1flu/ H1N1 flu.
SOURCES: U.S. Centers for Disease Control and Prevention, news release, Sept. 24, 2009; Northwestern University, news release, Sept. 23, 2009
Copyright 2009 ScoutNews, LLC. All rights reserved.
Published: Friday, September 25, 2009 | 6:45 AM ET
Canadian Press
(HealthDay News) - Doctors warn that parents across the country could give the wrong dose of Tamiflu to their children as treatment for the H1N1 swine flu because the dosing instructions don't always coincide with the measurement markings on the syringe that comes with the liquid medication.
The warning letter, penned by scientists from Northwestern University Feinberg School of Medicine in Chicago, Emory University in Atlanta and Weill Cornell School of Medicine in New York City and published online Wednesday in the New England Journal of Medicine, also urges doctors and pharmacists to be on the lookout for this potential dosing mismatch and to help parents figure out exactly how much Tamiflu to give their child.
The authors cite a case that they say is probably happening all over the United States: The parents of a 6-year-old girl diagnosed with the H1N1 virus received a prescription for Tamiflu Oral Suspension that told them to give her three-fourths of a teaspoon of the medicine two times a day. However, the dosing syringe inside the box was marked in milligrams. The confused parents, both of whom are health professionals, had to figure out how to convert the measurement, something most parents would find too daunting to do.
"It's an egregious error that there is a conflict in the prescription labeling instructions and the dosage device that comes in the exact same box. It's incredibly confusing to parents," letter co-author Michael Wolf, an associate professor of medicine and learning sciences at Northwestern University Feinberg School of Medicine, said in a news release from the university. "Tamiflu is one of the main courses of treatment right now for H1N1, and it is being widely used among children, even infants."
The letter's authors recommend that all pharmacies and physicians be instructed to ensure that the prescription label instructions for use are in the same dosing units as those on the measurement device.
"Parents being prescribed Tamiflu for their children need to make sure they understand exactly how to take it at the time they pick it up at the pharmacy," lead letter author Dr. Ruth Parker, a professor of medicine at Emory, said in the release.
Wolf warned that an overdose could be toxic, and an underdose could be ineffective.
And even more complex calculations might be necessary now that the U.S. Food and Drug Administration has approved Tamiflu for off-label use among children under the age of 1, because the syringe doesn't include small enough measuring increments for these youngest patients.
"We need to have a better system for ensuring there are standardized directions for administering drugs to children," letter co-author Dr. Alastair Wood, a professor of medicine and pharmacology at the Weill Cornell School of Medicine in New York City, said in the news release. "We need to move to a system where all doses are given in the same units, preferably milliliters."
Meanwhile, a report released Thursday supports recent U.S. Centers for Disease Control and Prevention recommendations not to use negative rapid test results for management of patients that may be infected with the pandemic swine flu virus.
Researchers in Connecticut assessed the performance of the rapid influenza diagnostic test (RIDT) used during outbreaks of pandemic influenza A (H1N1) at two schools in Greenwich in May 2009. Of the 63 people tested at Greenwich Hospital, infection was confirmed in 49 patients.
The results of the RIDT were compared with the reverse transcription-polymerase chain reaction assay. A low sensitivity of 47 per cent was found for the rapid test. This poor performance couldn't be explained by the clinical features of the patients or by the timing of the specimen collection, said Dr. James R. Sabetta, of the Greenwich Department of Health and the Connecticut Department of Public Health, and colleagues.
While a positive rapid test for influenza is helpful, a negative test doesn't rule out pandemic swine flu, the researchers said.
The report appears in the Sept. 25 issue of the Morbidity and Mortality Weekly Report, published by the CDC.
More information
The CDC has more about http://www.cdc.gov/h1n1flu/ H1N1 flu.
SOURCES: U.S. Centers for Disease Control and Prevention, news release, Sept. 24, 2009; Northwestern University, news release, Sept. 23, 2009
Copyright 2009 ScoutNews, LLC. All rights reserved.
Wednesday, September 23, 2009
'39 Pounds of Love' star dies at 41
Click to Print
The Jerusalem Post Internet Edition
'39 Pounds of Love' star dies at 41
Sep. 22, 2009
Brian Blondy , THE JERUSALEM POST
Ami Ankilewitz, the subject of an award-winning documentary who braved a debilitating illness for 41 years, finally succumbed to it on Sunday.
Ankilewitz was born with Spinal Muscular Atrophy - an extremely rare and often fatal condition that limits physical growth and movement.
Despite a prediction from a doctor that he would live for only six years, Ankilewitz continued to survive and succeed. Due to his medical condition, he weighed only 39 pounds (17.7 kg.) as an adult and had use of only one finger during his life.
In 2005, Dani Menkin directed the documentary about Ankilewitz titled 39 Pounds of Love.
The documentary centers on Ankilewitz's quest across America to make peace with his brother and confront the doctor who predicted his early death. Along the way, he visits the Grand Canyon and rode a Harley-Davidson motorcycle, one of his life's dreams and passions.
The film won the Best Documentary category at the Ophir Awards given out by the Israeli Academy of Film, and at the Palm Beach International Film Festival. It was also screened in the United States to critical praise.
Ankilewitz continuously strived to live an active, normal lifestyle despite his immobility. In recent years, he drove an Alfa Spider convertible, became an outstanding handgun target shooter and even tried to join the IDF. He enjoyed going to bars and clubs, travelling and having "the time of his life" with his friends.
"I think a person like me would have much more motivation... for the simple reason that it would be much more important for me to prove that I could be as efficient as everyone else," Ankilewitz wrote on his personal Web site.
With his index finger, he was also an avid 3D animator, creating computer animation to tell his personal stories of love.
And it was love that was at the center of Ankilewitz's life.
"For me it [love] is more than just a word. It is the essence of our existence," he once said.
Throughout his life, Ankilewitz viewed his disability as an advantage.
"I'm lucky that I am what I am," he said. "I rephrase to myself as a 'what' for the simple reason that science hasn't yet found a definition for me that would be suitable in my mind. It could have been worse. I could have been 'normal.' I have the freedom to be whoever I want. I do not think people should look at me as a hero. Instead, they should think of themselves and put themselves in my position and think what other options do I have. It's either live or die, and I chose not to die."
In remembrance of his life, 39 Pounds of Love was shown in Tel Aviv on Tuesday night. His funeral was held at Kibbutz Givat Hashlosha, east of Petah Tikva, on Sunday night.
The Jerusalem Post Internet Edition
'39 Pounds of Love' star dies at 41
Sep. 22, 2009
Brian Blondy , THE JERUSALEM POST
Ami Ankilewitz, the subject of an award-winning documentary who braved a debilitating illness for 41 years, finally succumbed to it on Sunday.
Ankilewitz was born with Spinal Muscular Atrophy - an extremely rare and often fatal condition that limits physical growth and movement.
Despite a prediction from a doctor that he would live for only six years, Ankilewitz continued to survive and succeed. Due to his medical condition, he weighed only 39 pounds (17.7 kg.) as an adult and had use of only one finger during his life.
In 2005, Dani Menkin directed the documentary about Ankilewitz titled 39 Pounds of Love.
The documentary centers on Ankilewitz's quest across America to make peace with his brother and confront the doctor who predicted his early death. Along the way, he visits the Grand Canyon and rode a Harley-Davidson motorcycle, one of his life's dreams and passions.
The film won the Best Documentary category at the Ophir Awards given out by the Israeli Academy of Film, and at the Palm Beach International Film Festival. It was also screened in the United States to critical praise.
Ankilewitz continuously strived to live an active, normal lifestyle despite his immobility. In recent years, he drove an Alfa Spider convertible, became an outstanding handgun target shooter and even tried to join the IDF. He enjoyed going to bars and clubs, travelling and having "the time of his life" with his friends.
"I think a person like me would have much more motivation... for the simple reason that it would be much more important for me to prove that I could be as efficient as everyone else," Ankilewitz wrote on his personal Web site.
With his index finger, he was also an avid 3D animator, creating computer animation to tell his personal stories of love.
And it was love that was at the center of Ankilewitz's life.
"For me it [love] is more than just a word. It is the essence of our existence," he once said.
Throughout his life, Ankilewitz viewed his disability as an advantage.
"I'm lucky that I am what I am," he said. "I rephrase to myself as a 'what' for the simple reason that science hasn't yet found a definition for me that would be suitable in my mind. It could have been worse. I could have been 'normal.' I have the freedom to be whoever I want. I do not think people should look at me as a hero. Instead, they should think of themselves and put themselves in my position and think what other options do I have. It's either live or die, and I chose not to die."
In remembrance of his life, 39 Pounds of Love was shown in Tel Aviv on Tuesday night. His funeral was held at Kibbutz Givat Hashlosha, east of Petah Tikva, on Sunday night.
Friday, September 18, 2009
Thursday, August 13, 2009
Ventilation After Breathing Tube Removal May Alter Outcomes
Ventilation After Breathing Tube Removal May Alter Outcomes
Published: Thursday, August 13, 2009 | 7:15 AM ET
Canadian Press
(HealthDay News) - People with chronic respiratory disorders who receive early non-invasive ventilation after a breathing tube has been removed are less likely to suffer respiratory failure or die, a Spanish study has found.
The study included 106 people on mechanical ventilation. All of them had high levels of carbon dioxide in their blood, a condition known as hypercapnia. After their internal breathing tubes were removed, in a procedure called extubation, 54 people received non-invasive ventilation for 24 hours and 52 were given conventional oxygen treatment, the according to the study.
Respiratory failure after extubation occurred in 15 per cent of those who received non-invasive ventilation and in 48 per cent of people given conventional oxygen therapy. Non-invasive ventilation was associated with an 83 per cent decreased risk for respiratory failure after extubation, the researchers found.
They also found that the death rate after 90 days was much lower among people in the non-invasive ventilation group (11 per cent) than among those who received conventional oxygen therapy (31 per cent).
"Early non-invasive ventilation after extubation diminished risk of respiratory failure and lowered 90-day mortality in patients with hypercapnia during a spontaneous breathing trial," concluded Dr. Miquel Ferrer, of the Hospital Clinic of Barcelona, and his research colleagues. "Routine implementation of this strategy for management of mechanically ventilated patients with chronic respiratory disorders is advisable."
The study appears online this week and in an upcoming print issue of The Lancet.
More information
The U.S. National Women's Health Information Center has more about http://womenshealth.gov/faq/lung-disease.cfm lung disease.
SOURCES: Kathryn Schmitz, Ph.D., M.P.H., associate professor, epidemiology, University of Pennsylvania, Philadelphia; Wendy Demark-Wahnefried, Ph.D., R.D., professor, department of behavioral science, University of Texas MD Anderson Cancer Center, Houston; Aug. 13, 2009, New England Journal of Medicine
Published: Thursday, August 13, 2009 | 7:15 AM ET
Canadian Press
(HealthDay News) - People with chronic respiratory disorders who receive early non-invasive ventilation after a breathing tube has been removed are less likely to suffer respiratory failure or die, a Spanish study has found.
The study included 106 people on mechanical ventilation. All of them had high levels of carbon dioxide in their blood, a condition known as hypercapnia. After their internal breathing tubes were removed, in a procedure called extubation, 54 people received non-invasive ventilation for 24 hours and 52 were given conventional oxygen treatment, the according to the study.
Respiratory failure after extubation occurred in 15 per cent of those who received non-invasive ventilation and in 48 per cent of people given conventional oxygen therapy. Non-invasive ventilation was associated with an 83 per cent decreased risk for respiratory failure after extubation, the researchers found.
They also found that the death rate after 90 days was much lower among people in the non-invasive ventilation group (11 per cent) than among those who received conventional oxygen therapy (31 per cent).
"Early non-invasive ventilation after extubation diminished risk of respiratory failure and lowered 90-day mortality in patients with hypercapnia during a spontaneous breathing trial," concluded Dr. Miquel Ferrer, of the Hospital Clinic of Barcelona, and his research colleagues. "Routine implementation of this strategy for management of mechanically ventilated patients with chronic respiratory disorders is advisable."
The study appears online this week and in an upcoming print issue of The Lancet.
More information
The U.S. National Women's Health Information Center has more about http://womenshealth.gov/faq/lung-disease.cfm lung disease.
SOURCES: Kathryn Schmitz, Ph.D., M.P.H., associate professor, epidemiology, University of Pennsylvania, Philadelphia; Wendy Demark-Wahnefried, Ph.D., R.D., professor, department of behavioral science, University of Texas MD Anderson Cancer Center, Houston; Aug. 13, 2009, New England Journal of Medicine
Thursday, July 16, 2009
Sammy Is Fundraising Please Give!!
Hello everyone. Our son Sammy is helping to raise funds for Chai Lifeline an organization that helps terminally ill children and their families. Camp Gan Israel the camp Sammy is attending is holding a jump a thon where the kids do jumping jacks to raise money for sick kids. Please sponsor Sammy as this is a front line organization that truly helps families and children in crisis when they are dealing with Life Threatening Illness; we know, they have helped us tremendously! Please give what you can by going to Sammy’s Chai Lifeline Web Page and donating here http://www.chailifeline.org/chai-a-thon/mypage.php?myid=2325 !!!! Thinking of all of you! Brad.
Monday, July 13, 2009
Subscribe to:
Posts (Atom)