Here's a new video of some of my favorite photos and videos of Shira from the past and recently. Enjoy. Brad
Showing posts with label Spinal Muscular Atrophy Canada. Show all posts
Showing posts with label Spinal Muscular Atrophy Canada. Show all posts
Thursday, May 29, 2014
New Video Of Shira's Adventures
Here's a new video of some of my favorite photos and videos of Shira from the past and recently. Enjoy. Brad
Sunday, October 6, 2013
Monday, November 26, 2012
Spinal Muscular Atrophy Type 1
Looking after a child with SMA Type 1 is intense. I would describe my experience delivering multi disciplinary intensive care 24/7 something like this. Imagine you are part of an expedition climbing Everest. As you are climbing you are relying on all of your gear and experience to keep you alive (in this case our child alive). One day a huge storm rolls in and half of your expedition is killed during the storm. It's to close to the top of the mountain so you decide to pray for the dead and push on to the summit. It's all about "looking past yourself" and delivering the care your child needs or they will die, simple as that. This is life with SMA.
Sunday, April 1, 2012
Where's Molly?
We have a few documentaries at home and Sammy is at an age where today he asked me if he could watch Where's Molly http://www.wheresmolly.net/ Years ago we were on the news advocating to get all the medical equipment we needed to keep Shira at home and care for her, get her injections to ward off illnesses etc. When we were on the news we had many calls from people that wanted to take Shira off of our hands and care for her. Yes caring for people is a business and when a person is extremely disabled the caregivers get even more money. This documentary came into my life a year after we started advocating hardcore for Shira and sometimes you just need something to grasp onto that justifies your actions and re affirms you are doing the right thing. This video is one of them. We realized watching this video that our "regular" son would be a better person having his sister at home. Today Sammy watched this movie and had a lot of questions he couldn't understand why a family would give up a child just because they had a disability. We are so proud of who our son is, that he doesn't categorize and separate people. Our hearts are constantly challenged by Shira's ongoing struggles and we'd be lying if we said we didn't suffer from moments of anticipatory grief . We live deeply in the present experiencing the joy our two amazing children give to each other. We've watched this documentary countless times and believe it is important to watch so that the confused can become enlightened and the knowing can be justified in their actions and life.
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.”
Wednesday, October 13, 2010
Medical Suppliers Profitting Off Terminally Ill Chidren - The Rotten Vermon Stench Of The Medical Supply Business
THE COST OF BEING SICK by Brad Fisher
Most healthy people do not realize or understand the perils caregivers and patients must deal with on a day to day basis. You think that if you get sick you will be cared for. Here in Canada we have a socialized system of medicine. Don’t think for a minute we aren’t paying for this medical because we have very high taxes and these taxes pay for our medical. While our system is socialized patients with very complex needs are not having these needs all met. Our daughter has a life threatening condition called Spinal Muscular Atrophy Type 1. While our daughter is physically immobile she has 110% cognitive function and can communicate but this article is not about my daughter’s illness as much as it is about medical suppliers and the system.
Since our daughter’s diagnosis I have noticed the incredible cost of medical devices for children with life threatening disease and other children with disabilities. What gets me is how prices of equipment and supplies don’t get any less expensive even while our dollar keeps rising close to parity with the U.S. dollar. I’ve noticed just looking on line that the cost of items is in many cases 30-60% less than suppliers are selling them for here in Canada. Because I was once in the retail business I completely understand how retail operations purchase from manufacturers and distributers. I know that items a retailer purchases cost less when they purchase in bulk or just have an account with a supplier or manufacturer. Then retailers turn around and sell items at the manufacturers suggested retail price which can often times be 40 to over 100 percent more than the retailer paid for these items. I understand people have to make money that is what business is all about.
What about these businesses that supply the government or in our case our socialized medicine? Why is it that the government who routinely does not cover 100 percent of the cost of items for our daughter, that have to be additionally funded by charities, cost more than when our dollar was 40 percent less than the U.S. dollar. Why does our government or socialized medical prefer to pay a local supplier sometimes 50% more for an item because they want service vs. paying 50% less from a supplier in the states thereby not forcing families to seek additional funding from charities to purchase equipment for their children!
If we look deeply into the business practices of our provincial government purchasing from local medical suppliers I guarantee we will uncover graft, over billing, and cheating on every level. I see medical suppliers as vermin feeding off profits made from sales to families with terminally ill children not caring if the item exceeds the programs allowable funding knowing full well charities will cover the rest. Yes I believe in business and profits but when government health programs are not paying the full share of the cost of equipment thereby making the public pick up the tab over and above the taxes we pay through donations to charities you have to stop and ask why? Who is in charge? Why is there no accountability? Why is the government denying equipment and other services or only funding portions of them? Why is the government paying too much for products?
I have done some comparison shopping recently on a piece of medical equipment our daughter needs and found the government could save almost $2000.00 purchasing the item in the U.S. The argument the government has is what if we need to service the item. Even if the item had to be serviced and paid for it would still be less expensive than buying from local retailers not taking the high dollar into account. Government medical contracts do not create competitive pricing. The lack of competition in Canada has bred an environment of suppliers feeding off the people that need the most help. It’s time for our government to step in and oversee purchases made and what these suppliers are doing so that children with life threatening illness are not denied equipment needed to improve their quality of life. It’s just not right that people need to go to charities to raise money to buy medical equipment while medical suppliers laugh all the way to the bank on the backs of children with life threatening illnesses, the elderly and the challenged. Shame on you medical suppliers; How do you look your children in the eyes knowing your pricing may get a child denied a much needed piece of equipment that has a life threatening illness and shame on the government employees not standing up to bad policy!! Shame, shame, shame on you!
Most healthy people do not realize or understand the perils caregivers and patients must deal with on a day to day basis. You think that if you get sick you will be cared for. Here in Canada we have a socialized system of medicine. Don’t think for a minute we aren’t paying for this medical because we have very high taxes and these taxes pay for our medical. While our system is socialized patients with very complex needs are not having these needs all met. Our daughter has a life threatening condition called Spinal Muscular Atrophy Type 1. While our daughter is physically immobile she has 110% cognitive function and can communicate but this article is not about my daughter’s illness as much as it is about medical suppliers and the system.
Since our daughter’s diagnosis I have noticed the incredible cost of medical devices for children with life threatening disease and other children with disabilities. What gets me is how prices of equipment and supplies don’t get any less expensive even while our dollar keeps rising close to parity with the U.S. dollar. I’ve noticed just looking on line that the cost of items is in many cases 30-60% less than suppliers are selling them for here in Canada. Because I was once in the retail business I completely understand how retail operations purchase from manufacturers and distributers. I know that items a retailer purchases cost less when they purchase in bulk or just have an account with a supplier or manufacturer. Then retailers turn around and sell items at the manufacturers suggested retail price which can often times be 40 to over 100 percent more than the retailer paid for these items. I understand people have to make money that is what business is all about.
What about these businesses that supply the government or in our case our socialized medicine? Why is it that the government who routinely does not cover 100 percent of the cost of items for our daughter, that have to be additionally funded by charities, cost more than when our dollar was 40 percent less than the U.S. dollar. Why does our government or socialized medical prefer to pay a local supplier sometimes 50% more for an item because they want service vs. paying 50% less from a supplier in the states thereby not forcing families to seek additional funding from charities to purchase equipment for their children!
If we look deeply into the business practices of our provincial government purchasing from local medical suppliers I guarantee we will uncover graft, over billing, and cheating on every level. I see medical suppliers as vermin feeding off profits made from sales to families with terminally ill children not caring if the item exceeds the programs allowable funding knowing full well charities will cover the rest. Yes I believe in business and profits but when government health programs are not paying the full share of the cost of equipment thereby making the public pick up the tab over and above the taxes we pay through donations to charities you have to stop and ask why? Who is in charge? Why is there no accountability? Why is the government denying equipment and other services or only funding portions of them? Why is the government paying too much for products?
I have done some comparison shopping recently on a piece of medical equipment our daughter needs and found the government could save almost $2000.00 purchasing the item in the U.S. The argument the government has is what if we need to service the item. Even if the item had to be serviced and paid for it would still be less expensive than buying from local retailers not taking the high dollar into account. Government medical contracts do not create competitive pricing. The lack of competition in Canada has bred an environment of suppliers feeding off the people that need the most help. It’s time for our government to step in and oversee purchases made and what these suppliers are doing so that children with life threatening illness are not denied equipment needed to improve their quality of life. It’s just not right that people need to go to charities to raise money to buy medical equipment while medical suppliers laugh all the way to the bank on the backs of children with life threatening illnesses, the elderly and the challenged. Shame on you medical suppliers; How do you look your children in the eyes knowing your pricing may get a child denied a much needed piece of equipment that has a life threatening illness and shame on the government employees not standing up to bad policy!! Shame, shame, shame on you!
Wednesday, September 15, 2010
Diet and SMA ~ Our children have different baseline "NORMAL" so calculate for it stupid!
The problem is is that the dieticians working with doctors (even the good doctors) calculate diet to the 10th percentile using the CDC growth charts for regular children. Doing this is NUTS!!! if you take into accounte the physical makeup of an SMA patient based on Dr. Kelly's findings i.e. that "that sma type 1 patients have muscle mass as low as 5-10% that of a regular child and that muscle mass makes up around 40% of your body mass" if you calculate to the 10th percentile the patient would be obese as far as fat to muscle ratio. Dr. Kelly also states that only the Age/Length charts should be used to insure the child is growing properly. When a child stops growing properly is anyone's guess when it comes to SMA Type 1 there is no data at all let alone even clinical or anecdotal there is none. The main thing to remember is that if a dietitian recommends you do something without doing skin fold tests and other tests to properly estimate the bodies physical makeup they are only guessing. And because they have guidelines set out by the government they have to follow they have to calculate to the 10th percentile to avoid liability problems. This is why the Kennedy Krieger CP Quadrilgia chart is so important becasue at least its a population with closer physical traits than regular children and if you are going to use a chart it just makes more sense. Here is an explanation below from Dr. Kelly to Jeanna Huette years ago. This information is basically what the AA Diet is based on as far as calculating the diets. I advise getting skin fold tests done on your child by a qualified dietitian that does it a lot and is good at it. Shira has muscle mass around 15% that of a regular child. it's important to note the information below should be applied to what ever diet you deliver to your child and that the diet should be calculated optimally and re calculated often. The goal is to deliver the optimal nutrition without excessive volume to prevent reflux, and retain as much movement as possible. Our children are sedentary and have very low muscle mass so there needs are far different than regular children. The trick is to find the balance and deliver exactly what they need and like the rest of us they need a healthy diet not just processed food which I see all the time building diets for people. The type of tube and placement are also important when calculating diets but in my opinion the crap most dietitians suggest these children to eat is nothing short of ridiculous with very little thought put into it.
, “For such an "average" child, muscle constitutes 40% of body weight, whereas for the average SMA-I child, muscle is at most only about 10% of body weight, and often only 5%. Similarly, because about 40 to 50% of caloric expenditure is from muscle metabolism, a child with SMA needs far fewer calories, often only 60% of that recommended for age. For nutrition recommendations, physicians are taught to go by the book. However, unfortunately, there is no nutrition book written for SMA, and dietary recommendations made using standard scales are just not appropriate. For example, when a child is very small for age (below the third percentile), as some SMA children are, physicians are taught to use the "weight-for-height" chart to specify an ideal weight for a child's size rather than age. However, again, the weight-for height charts were developed for children whose body composition is normal or at least potentially normal when better nourished, which never is the case for SMA. Thus, the published weight-for-height charts are not valid for SMA and should never be used.
Although what I have written here explains the basic principles behind the special weight and nutrition goals for SMA, in practice I usually look only at the length chart to make sure a child's linear growth has been steady. If so, then the rest of my recommendations are based on what a child looks and feels like, not a number that I calculate. However, for physicians who are not familiar with SMA and muscle disorders of similar severity, the calculations I have presented usually help them approach the problem correctly and avoid the almost universal problem of overfeeding in SMA.”
I also want to point out that just because an SMA Type 1 child is alive passed the age of 2 doesn't mean they are healthy for an SMA Type 1 child it just means they are alive. Many dietitians and parents can't look passed this fact and overload the children and fall back on the knowledge just that the child is alive so in the SMA Type 1 world must mean they are doing well. our children have a different baseline normal than regular children and most doctors and dietitians do not want to believe this. Food has many psycho social dynamics attached to it. Some parents have serious eating challenges themselves which directly affects their children and the same goes for doctors and dietitians and their own problems directly affect what they see before them instead of using science, logic, observation within our community etc. basically science. It's pathetic!
, “For such an "average" child, muscle constitutes 40% of body weight, whereas for the average SMA-I child, muscle is at most only about 10% of body weight, and often only 5%. Similarly, because about 40 to 50% of caloric expenditure is from muscle metabolism, a child with SMA needs far fewer calories, often only 60% of that recommended for age. For nutrition recommendations, physicians are taught to go by the book. However, unfortunately, there is no nutrition book written for SMA, and dietary recommendations made using standard scales are just not appropriate. For example, when a child is very small for age (below the third percentile), as some SMA children are, physicians are taught to use the "weight-for-height" chart to specify an ideal weight for a child's size rather than age. However, again, the weight-for height charts were developed for children whose body composition is normal or at least potentially normal when better nourished, which never is the case for SMA. Thus, the published weight-for-height charts are not valid for SMA and should never be used.
Although what I have written here explains the basic principles behind the special weight and nutrition goals for SMA, in practice I usually look only at the length chart to make sure a child's linear growth has been steady. If so, then the rest of my recommendations are based on what a child looks and feels like, not a number that I calculate. However, for physicians who are not familiar with SMA and muscle disorders of similar severity, the calculations I have presented usually help them approach the problem correctly and avoid the almost universal problem of overfeeding in SMA.”
I also want to point out that just because an SMA Type 1 child is alive passed the age of 2 doesn't mean they are healthy for an SMA Type 1 child it just means they are alive. Many dietitians and parents can't look passed this fact and overload the children and fall back on the knowledge just that the child is alive so in the SMA Type 1 world must mean they are doing well. our children have a different baseline normal than regular children and most doctors and dietitians do not want to believe this. Food has many psycho social dynamics attached to it. Some parents have serious eating challenges themselves which directly affects their children and the same goes for doctors and dietitians and their own problems directly affect what they see before them instead of using science, logic, observation within our community etc. basically science. It's pathetic!
Saturday, August 28, 2010
Summer Time Fun
I don’t know where to start as we have been having so much fun. Sammy has been in many different camps this summer. Besides the camp he has been going to since he was 4 years old the Victoria Conservatory Musical theatre camp was a big highlight for Sammy and for Shira. As many of you well know I am a huge advocate for staying away from social gatherings of any kind with Shira. Whenever you are around more than your own family your chance of infecting Shira with something goes up exponentially. Being summer and knowing how slow our local pediatric intensive care unit is we decided to take Shira to Sammy’s recital. Sammy had been practicing the songs from Annie for many days so of course Shira also learned them. Where ever we go Sammy and Shira sing It’s A Hard Knock Life and The Sun Will Come Out in unison. It’s the cutest thing you’ve ever heard and seen. I was walking down the street the other evening with Sammy and Shira in her stroller. The streets were very quite and you could here their voices ringing out singing It’s A Hard Knock Life. Shira in her stander certainly makes those words ring a little true except for the fact we don’t torture her at home like Ms. Hanagon. Anyways Shira was blown away by the beautiful stage and of course the recital. Shira screamed when the young girl playing Ms. Hanagon appeared on stage. It was an amazing production and Sammy was the only boy to get a part out of the chorus. Sammy played the policeman chasing down Annie and he did a great job!
Yesterday we took Shira to her first movie and it was an IMAX movie no less. The movie opened up with a 6 story Orca Whale jumping at us. The movie was about whales and it was absolutely beautiful of course. Most of the scenes were from South America and it just made me want to get on a plane. Shira absolutely loved it and she kept singing Aerial’s little theme song from The Little Mermaid all the way through the movie. When the movie finished Shira said, “Yeah!” After the show we walked through the whole B.C. museum which she also enjoyed.
On Thursday I took Shira to Sammy’s outdoor camp but I have to say it was not all that exciting and I signed Sammy out and Shira, Sammy and I took off together. We made a trip to Shira’s school www.sides.ca to see if anyone would be there. Shira will be attending Kindergarten this year at home but the school will be sending a teacher to our home. I of course took Shira and Sammy to the wrong campus and I guess they called where we were supposed to go because when we got there they were all waiting for us. Shira kept saying, “I’m so excited, I’m so excited!” The whole staff was so welcoming and loving towards Shira it was a beautiful thing. It was really like someone was on our side, really understood Shira and could see how much potential she has. While we were at the school Sammy felt the need to push Shira in her wheel chair. Sammy is so proud to know his sister is going to school. The staff really treated Sammy well and really understand the dynamics between siblings and the role they play in the family unit with a child with challenges. We had the greatest time and it was very energizing to be there.
Today we are off to the Johnson Street Market then maybe a visit with the goats at Beacon Hill Farm.
Sunday, August 15, 2010
Spinal Muscular Atrophy~ Our Day At India Day
Here is a video of us at India Day Victoria, B.C. It was too hot but the kids had fun! http://www.youtube.com/watch?v=j0sBpvn8LNQ
Sunday, August 8, 2010
Shira Watches Mommy Perform At Hillside Mall
Shira is now 5 years old and believe it or not she has only seen her mom perform in public 2 times. The reason for this is we keep Shira away from social gatherings. 90% of children with SMA Type 1 are dead by the age of 2. These statistics are based on no intervention and high levels of exposure to other people which lead to death through disease. Shira has had relatively few hospitalizations because of our disease protocol (can be viewed here http://www.asonginthisworld.com/images/client_pics/DISEASE%20PREVENTION%20FOR%20OUR%20HOME.pdf
But being summer and cold and flu season slower this time of year (but not totally gone you still need to be vigilant)we took Shira to the mall to watch Maxine perform her children's show Let's Make Music And Move. Here is the video: http://www.youtube.com/watch?v=pXkxtvJdke8 Shira absolutely loves watching her mom up there and all the children reacting to her. Shira also loves singing and performing herself and really wants to get up on stage and sing which we might do next time.
As you can see Shira has a little glass bead neckless with a lion bead on it. We were at a Pow Wow last 2 weeks ago and Shira chose the beads and the whole family pitched in and helped her make it. Sammy also made a wonderful bone bead neckless with beads he bought there.
Shira is really doing great and has so many interests like regular kids. She just needs more support when doing things. Today we are off to an Indian Festival downtown. Shira and Sammy are both excited to dress up in their authentic Indian clothing from India and going to the festival. d
Friday, August 6, 2010
Tonight Shira said, "I have SMA. I want to be grown up!"
I'm not sure but I think Shira is thinking when she is grown up she will be able to walk and be like everyone else. Now i'm thinking how do I deal with these questions. I've just started searching for answers to these questions and found this article on www.fsma.org web site:
How do I explain SMA to my young child?
Dear Parent,
You asked how to tell your son about his SMA without damaging his soul. I am 26 years old and have SMA. As I recall, my parents were a lot sadder about my disability than I ever was as a child. Under no circumstances did I want my parents to be sad about me, and I still don't. Your son probably does not want you to be sad about him either.
As far as what to tell him, I think it is generally best to answer his questions as he asks them, not before. At his age, I remember I wanted to know what the reason was that I could not walk, and by that I mean I wanted to know what the malfunction of my body was, but everybody usually gave a sermon every time I asked. It took a long time for me to get the answer I was looking for, that my nerves (which were like phone lines) were not able to get enough messages from my brain to my muscles, and so all of my muscles were very weak because they didn't get my brain's messages enough. So listen carefully to what your son asks and don't make his questions bigger than they really are. You say you are worried how to tell him that he won't walk again. It is possible that he doesn't believe he will walk again and just wants to know whether or not he will. I would tell him that he will probably not walk again, and then ask him how that makes him feel. Talking to him about how he feels, however he feels, is more important than trying not be optimistic in telling him the news. Your son will react how he will react. All you can do is be there to support him through his reaction.
He probably will ask you himself whether or not his illness is life threatening. If he ever watches the MDA telethon, gets hospitalized with a bad pneumonia, or meets others with neuro-muscular disease, trust me, he will one day ask you if he is going to die young. You must tell him the truth, which is that some people with SMA die young and others do not. Whether or not he dies young is up to how healthy he tries to be and up to whatever God has in mind for him. Tell him this is true for all people, not just people with SMA. Tell him that his job on earth is to live as fully as he can, not to wait around for death. And then ask how he feels. If he feels scared or sad, let him know how you feel when you think about dying young. It's a difficult idea for everyone, after all.
I would recommend you introduce your son to Stephen Hawkings' movie, A Brief History of Time (not the book - it's incomprehensible) when he's a little older. Stephen Hawkings has ALS, a neuromuscular disease that it almost always fatal. Stephen has lived more than 20 years longer than predicted, and his doctors are forever saying that he only has a little more time left. He is married, has kids and has made a huge contribution to the world through his work. He's a good role model for children who are worried about the life implications of ALS, not because he has survived, but because he lives the life he has.
Sincerely,
Jennifer Rellick
Thursday, August 5, 2010
Soul and Giving
On Wed morning Shira, myself and our care worker went to a mall to watch Maxine perform for children. Maxine is a music therapist with a masters degree in psychology but she also has a show created specificly for toddlers. It's not easy to keep a toddlers attention for 45 straight minutes but Maxine is a master at it and really understands what children need. Shira has only seen Maxine perform 2 times because we have been so afraid to expose her to germs in social environments. Shira of course loved the concert and watching mommy and all the children responding to mommy. After the concert the mall gives out balloons to children. Shira was given 2 balloons and when we walked away I heard a little girl start to cry hysterically because she didn't get a balloon. I told Shira a little girl was very sad because she didn't get a balloon and would she like to give one of hers to the little girl. Shira being Shira said, "that's not good daddy! We can give her a balloon!" We walked over to the girl and her mother and I said my daughter would like to give her little girl one of her balloons. The mother looking over at Shira laying in her stroller drooling with her oxymeter and food line going under her shirt, her orthotics and wrist brace said, "no it's ok you don't have to she'll be alright" probably thinking what is this I couldn't take a balloon from this girl. Shira in her very low volume voice was saying, "don't cry have a balloon!" I held Shira's hand in mine because she can't raise her own arms and moved her arm in the direction of the little girl with the pink balloon in her hand. Shira gave the little girl the balloon and the little girl started to settle down but was still hyperventilating. I almost lost it (cried) when Shira did this. Shira is my song in this world, my mitzvah girl (good deed).
Below is an explanation about soul by a chassidic master Rebbe Nachman. I found it interesting.
The differences between the body and the soul are vast. Yet their combination is what makes "man." They can work together in perfect harmony.
Rebbe Nachman taught:
A person must care for his body, so that it shines with each spiritual advancement he achieves. for the soul perceives and understands extremely lofty levels, while the body remains ignorant of them. A person must therefore purify his body, to enable it to share in the soul's perceptions. The soul will also benefit from a body which is finely attuned to spirituality, for fi the soul falls from its spiritual level, the body which has experienced Godliness will enable it to regain its previous level of holiness.
This can occur because the body has attained a corresponding level of purity.
For a person to attain this level of harmony and cooperation between body and soul, he must break the brazenness of the body's lusts and desires by countering it with "holy brazenness, " the stubborn will to bring himself to spirituality, come what may. In doing so, he allows his soul to blend completely with his body.
The means through which the body blends with the soul is the performance of the mitzvot (charity or good deed). The more good deeds a person performs, the greater his body's subjugation to his soul, allowing the body to actually feel the soul's attainments. (Likuty Moharan I, 22:5, 8) from Anatomy of The Soul Rebbe Nachman Of Breslov
Sunday, June 20, 2010
Probiotics cuts intensive care infection
Probiotics cuts intensive care infection
Published: June 17, 2010 at 7:01 PM
OMAHA, June 17 (UPI) -- Ventilator-associated pneumonia in critically ill patients in hospitals was cut in half after probiotics were given to the patients, U.S. researchers say.
Lead author Dr. Lee E. Morrow of the Creighton University says ventilator-associated pneumonia affect an estimated 30 percent of patients who are hospitalized in critical condition.
Morrow and colleagues chose 138 critically ill patients from a single hospital to receive either placebo or probiotic therapy. Patients who received probiotic therapy got Lactobacillus rhamnosus twice daily.
The researchers find the daily use of probiotics not only decreased ventilator-associated pneumonia infections by about 50 percent compared to the placebo.
The study, plus a meta-analysis of existing studies, finds an overall reduction in ventilator-associated pneumonia of 39 percent with probiotics, suggesting a novel, inexpensive treatment, but more than 90 percent of patients in the intensive care unit were deemed ineligible for the study.
"Larger clinical trials
with more liberal inclusion criteria are needed to establish the effectiveness of probiotics and to allow for extrapolation to a larger at-risk population," Morrow says in a statement.
The findings are published online ahead of print in the American Journal of Respiratory and Critical Care Medicine.
Published: June 17, 2010 at 7:01 PM
OMAHA, June 17 (UPI) -- Ventilator-associated pneumonia in critically ill patients in hospitals was cut in half after probiotics were given to the patients, U.S. researchers say.
Lead author Dr. Lee E. Morrow of the Creighton University says ventilator-associated pneumonia affect an estimated 30 percent of patients who are hospitalized in critical condition.
Morrow and colleagues chose 138 critically ill patients from a single hospital to receive either placebo or probiotic therapy. Patients who received probiotic therapy got Lactobacillus rhamnosus twice daily.
The researchers find the daily use of probiotics not only decreased ventilator-associated pneumonia infections by about 50 percent compared to the placebo.
The study, plus a meta-analysis of existing studies, finds an overall reduction in ventilator-associated pneumonia of 39 percent with probiotics, suggesting a novel, inexpensive treatment, but more than 90 percent of patients in the intensive care unit were deemed ineligible for the study.
"Larger clinical trials
with more liberal inclusion criteria are needed to establish the effectiveness of probiotics and to allow for extrapolation to a larger at-risk population," Morrow says in a statement.
The findings are published online ahead of print in the American Journal of Respiratory and Critical Care Medicine.
Friday, June 18, 2010
Justifying My Existence - Daniel Silveria
Justifying My Existence - Daniel Silveria
Hollee J. Chadwick
Published September 18, 2009 by:
Hollee J. Chadwick
More: La House Movers La Movers Quadriplegic Daniel Pearl Plate Tectonics
I was born with Spinal Muscular Atrophy and, as a result, have been a quadriplegic for most of my 33 years. My mother didn't know prior to my birth that I would be afflicted with this illness. I was diagnosed when I was
two years old. There's no way of knowing if she would have decided to terminate the pregnancy had she known in advance that her child would be disabled; if she'd have been overwhelmed at the prospect of maintaining an extremely dependent individual with a severely compromised immune system and a questionable "quality of life."
The thing about life is that it's a zero-sum game. In order for one's quality of life to be examined and taken into consideration, one must first have a life. My basic thesis here is that I'm glad that I do. If I'd have been aborted it would've made this far more difficult to write.
So I'm writing this from the perspective of the unaborted fetus, a not at all disinterested third party in this third rail debate. There are compelling arguments on both sides of the issue. In fact, I'm pretty sure I would be accused of riding the fence, since, though I am in favor of choosing life, when it comes down to it, I am reluctantly pro-choice. This is because I'm very much a proponent of states' rights, as opposed to a collection of any-way-the-wind-blows politicians in Washington deciding what's best for Joe Schmo in Idaho. The brilliant P.J. O'Rourke once compared the concept to being married, saying you can argue with the people (your wife) all you want, but inevitably it's just going to be, "Yes dear," and let democracy have the final say.
However, I'm just as opposed to some uninformed "it's my body, it's my life" able-bodied activist deciding for me and my ilk that my life, such as it is, is expendable and essentially not worth living. "To be or not to be?" is my question, not yours.
Life is worth living. When reduced to its simplest capabilities, when merely existing and drawing breath while being able to contemplate the sensation of that breath, life is worth the ride. Give me liberty, but first give me breath. And I'm not the smartest being to ever not walk the face of the earth, but having the ability to think at all allows me to appreciate the richness afforded me by the five senses. I can watch the nightly news and marvel at the human condition and all its long winded shortcomings, ubiquitous brilliance, and interwoven storylines. Despite my condition, the beauty is not lost on me. The sights and sounds all around provide more than enough motivation to get me out of bed in the morning. And even when I can no longer get out of bed, I'll find a way to supply myself with word of the movers and shakers and what they're moving and shaking.
If I am one day reduced to a coma, visit me in my subconscious Shangri-La with a bottle of something expensive, and we'll raise a coma-toast. If I'm alive, I'm not unconscious. My heart still knows where to pump the blood, my immune system still knows where to find the bacteria cafeteria. Consciousness is precious beyond any words I could put here in support of it. To say nothing of the visceral realm, which is sometimes background music, but sometimes makes the little hairs on the back of your neck stand in awe. Maybe it's a consciousness higher than consciousness.
You might be thinking that someone like me develops an exceptionally fortified wall of denial as a defense mechanism. Da Nile ain't just a river in Egypt, after all. I don't see it like that, though. The game has merely been simplified for me by way of removing some of the extras, and appreciation of what is replaces focus from what is lacking. It's all relative. Somebody that most people would agree has ideal circumstances in their life might be absolutely miserable because their focus is intensely on the few things that they lack. So the opposite is often true of someone who might be perceived by the consensus as having less than ideal circumstances. I'm not saying that I constantly see the world through the lenses of rose-colored glasses. I visit the doldrums every now and then. But there's no shortage of people pounding the doldrums. Misery loves company, so pity parties are all the rage. There are human interest stories as far as the eyes can see, where the humans of interest have a tale of woe. And the more morbid the tale, the more spectators.
It seems we are obsessed with constantly reaffirming that life is not fair. I have a very profound response to this presumption:
Duh!
We hold this truth to be self-evident - and freakin' obvious. You're perfectly entitled to your childish notions of entitlement, but reality has a funny way of shaking the plate tectonics of your paradigmbag. How many times do we lab brats have to run into the electrified walls of "life's-not-fair" and still be shocked and amazed by the maze? Pearls of wisdom are produced the same way actual pearls are: via friction and time. I have been pearl-lyzed, hallelujah!
It's my belief that depression's primary cause stems from the expectations and entitlement mentality running headlong into the Truth Train.
The brutality of reality gives its brand of tough love to the unsuspecting gamer. We all have a predetermined timeline arranged in our minds as to where we're supposed to be at a given point in the midst of this mortal coil. Kind of a biological clock, but applicable to endless other rites of passage we presume to be part of the grand tour. "I should have 2.3 kids by the time I'm 30 years old;" "I should be able to retire by the time I'm 65;" "I should have a house in the Hamptons with a gardener, chef, and personal misuse who doubles as my doubles partner and caddie, and drives my Cadi while I'm in the back, swigging gin & Jack on the cell with my broker, who's got me stalks of stocks socked away all by the time I'm sprouting grey hairs."
"Happiness never lays its finger on its pulse." - Adam Smith
You see, we have midlife crises, earlylife crises, and end-of-life issues. But what we really have is a beautiful collection of priceless moments. Moments are in the I of the beholder.
Two years following my diagnosis, my mother got pregnant again. Strangely, some highly motivated organizations caught wind of this and swarmed down on her like vultures, offering advice and support in preventing such a horrible misfortune from happening again. Because, you know, my sit-uation is genetic and there was a good chance that history would repeat itself repeat itself. This time she knew the risks, and come hell or sick toddler, was perfectly willing to accept the results. Baby brother Andrew came nine months later, happy and healthy.
No group elected or otherwise should have authority over another individual's life or death, or in any way feel justified in evaluating that individual's quality of life or value to the tribe. Social engineering cannot be acceptable ever. No matter how many pretty euphemisms you try to pin to it.
You might look at me, and compared to the rest, assess what you see as flawed. Look closer you'll find a soul and a mind. I am a living expression of God.
Hollee J. Chadwick
Published September 18, 2009 by:
Hollee J. Chadwick
More: La House Movers La Movers Quadriplegic Daniel Pearl Plate Tectonics
I was born with Spinal Muscular Atrophy and, as a result, have been a quadriplegic for most of my 33 years. My mother didn't know prior to my birth that I would be afflicted with this illness. I was diagnosed when I was
two years old. There's no way of knowing if she would have decided to terminate the pregnancy had she known in advance that her child would be disabled; if she'd have been overwhelmed at the prospect of maintaining an extremely dependent individual with a severely compromised immune system and a questionable "quality of life."
The thing about life is that it's a zero-sum game. In order for one's quality of life to be examined and taken into consideration, one must first have a life. My basic thesis here is that I'm glad that I do. If I'd have been aborted it would've made this far more difficult to write.
So I'm writing this from the perspective of the unaborted fetus, a not at all disinterested third party in this third rail debate. There are compelling arguments on both sides of the issue. In fact, I'm pretty sure I would be accused of riding the fence, since, though I am in favor of choosing life, when it comes down to it, I am reluctantly pro-choice. This is because I'm very much a proponent of states' rights, as opposed to a collection of any-way-the-wind-blows politicians in Washington deciding what's best for Joe Schmo in Idaho. The brilliant P.J. O'Rourke once compared the concept to being married, saying you can argue with the people (your wife) all you want, but inevitably it's just going to be, "Yes dear," and let democracy have the final say.
However, I'm just as opposed to some uninformed "it's my body, it's my life" able-bodied activist deciding for me and my ilk that my life, such as it is, is expendable and essentially not worth living. "To be or not to be?" is my question, not yours.
Life is worth living. When reduced to its simplest capabilities, when merely existing and drawing breath while being able to contemplate the sensation of that breath, life is worth the ride. Give me liberty, but first give me breath. And I'm not the smartest being to ever not walk the face of the earth, but having the ability to think at all allows me to appreciate the richness afforded me by the five senses. I can watch the nightly news and marvel at the human condition and all its long winded shortcomings, ubiquitous brilliance, and interwoven storylines. Despite my condition, the beauty is not lost on me. The sights and sounds all around provide more than enough motivation to get me out of bed in the morning. And even when I can no longer get out of bed, I'll find a way to supply myself with word of the movers and shakers and what they're moving and shaking.
If I am one day reduced to a coma, visit me in my subconscious Shangri-La with a bottle of something expensive, and we'll raise a coma-toast. If I'm alive, I'm not unconscious. My heart still knows where to pump the blood, my immune system still knows where to find the bacteria cafeteria. Consciousness is precious beyond any words I could put here in support of it. To say nothing of the visceral realm, which is sometimes background music, but sometimes makes the little hairs on the back of your neck stand in awe. Maybe it's a consciousness higher than consciousness.
You might be thinking that someone like me develops an exceptionally fortified wall of denial as a defense mechanism. Da Nile ain't just a river in Egypt, after all. I don't see it like that, though. The game has merely been simplified for me by way of removing some of the extras, and appreciation of what is replaces focus from what is lacking. It's all relative. Somebody that most people would agree has ideal circumstances in their life might be absolutely miserable because their focus is intensely on the few things that they lack. So the opposite is often true of someone who might be perceived by the consensus as having less than ideal circumstances. I'm not saying that I constantly see the world through the lenses of rose-colored glasses. I visit the doldrums every now and then. But there's no shortage of people pounding the doldrums. Misery loves company, so pity parties are all the rage. There are human interest stories as far as the eyes can see, where the humans of interest have a tale of woe. And the more morbid the tale, the more spectators.
It seems we are obsessed with constantly reaffirming that life is not fair. I have a very profound response to this presumption:
Duh!
We hold this truth to be self-evident - and freakin' obvious. You're perfectly entitled to your childish notions of entitlement, but reality has a funny way of shaking the plate tectonics of your paradigmbag. How many times do we lab brats have to run into the electrified walls of "life's-not-fair" and still be shocked and amazed by the maze? Pearls of wisdom are produced the same way actual pearls are: via friction and time. I have been pearl-lyzed, hallelujah!
It's my belief that depression's primary cause stems from the expectations and entitlement mentality running headlong into the Truth Train.
The brutality of reality gives its brand of tough love to the unsuspecting gamer. We all have a predetermined timeline arranged in our minds as to where we're supposed to be at a given point in the midst of this mortal coil. Kind of a biological clock, but applicable to endless other rites of passage we presume to be part of the grand tour. "I should have 2.3 kids by the time I'm 30 years old;" "I should be able to retire by the time I'm 65;" "I should have a house in the Hamptons with a gardener, chef, and personal misuse who doubles as my doubles partner and caddie, and drives my Cadi while I'm in the back, swigging gin & Jack on the cell with my broker, who's got me stalks of stocks socked away all by the time I'm sprouting grey hairs."
"Happiness never lays its finger on its pulse." - Adam Smith
You see, we have midlife crises, earlylife crises, and end-of-life issues. But what we really have is a beautiful collection of priceless moments. Moments are in the I of the beholder.
Two years following my diagnosis, my mother got pregnant again. Strangely, some highly motivated organizations caught wind of this and swarmed down on her like vultures, offering advice and support in preventing such a horrible misfortune from happening again. Because, you know, my sit-uation is genetic and there was a good chance that history would repeat itself repeat itself. This time she knew the risks, and come hell or sick toddler, was perfectly willing to accept the results. Baby brother Andrew came nine months later, happy and healthy.
No group elected or otherwise should have authority over another individual's life or death, or in any way feel justified in evaluating that individual's quality of life or value to the tribe. Social engineering cannot be acceptable ever. No matter how many pretty euphemisms you try to pin to it.
You might look at me, and compared to the rest, assess what you see as flawed. Look closer you'll find a soul and a mind. I am a living expression of God.
Tuesday, March 9, 2010
Shira Receiving Beckman Motor Oral Therapy
Shira receives Beckman Motor Oral Therapy every day right after her CPT session in the morning.
Beckman Motor Oral Therapy Handout with Diagrams and Directions
http://www.asonginthisworld.com/images/client_pics/Beckman%20Motor%20Oral%20Therapy.PDF
Beckman Motor Oral Therapy Part 1
http://www.youtube.com/watch?v=KKxbexuV804
Part 2
http://www.youtube.com/watch?v=mY6ZujX-o_4
Part 3
http://www.youtube.com/watch?v=1-jMGPhJYrM
Part 4
http://www.youtube.com/watch?v=SGu9wCxE63g
Beckman Motor Oral Therapy Handout with Diagrams and Directions
http://www.asonginthisworld.com/images/client_pics/Beckman%20Motor%20Oral%20Therapy.PDF
Beckman Motor Oral Therapy Part 1
http://www.youtube.com/watch?v=KKxbexuV804
Part 2
http://www.youtube.com/watch?v=mY6ZujX-o_4
Part 3
http://www.youtube.com/watch?v=1-jMGPhJYrM
Part 4
http://www.youtube.com/watch?v=SGu9wCxE63g
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
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