Wednesday, September 7, 2011

Mogul Using Own $100 Million in Race to Cure Daughter Prompts Novartis Aid


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


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; Alex Nussbaum in New York

To contact the editor responsible for this story: Michael Waldholz at

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 ( 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, July 6, 2011

The Bridge Of Life by Brad Fisher

The Bridge Of Life by Brad Fisher
Lech Lecha. G-d said to Avraham, “Go (further) away-for your (own benefit)-from your land, your birth place and your father’s house, to the land which I will show you.(Parshas Lech Lecha)” I’m not the most religious Jew but I am spiritual and I identify deeply with my culture and heritage and religion. I’m the father and main caregiver to a 6 year old beautiful little girl who was only given 2 years to live. There are moments I deeply identify with Avraham being sent by G-d to an unknown land.

I just returned from a Canada Day celebration that we were not able to attend at the last minute because our daughter Shira lost her vital signs and went into respiratory arrest as I was parking at the event. It’s moments like these I feel I’ve been sent to an unknown land. I don’t have time to think of anything at times like this but work on our daughter and make her live. I suctioned the secretions from her mouth like mad with one hand while pulling the thick secretions out of her mouth and nose with my other hand. I was standing on the edge of the abyss again watching our beautiful little girl slip away into G-d’s hands as I desperately worked on her to keep her with us.

Our daughter suffers from the number one genetic killer of infants and toddlers called SMA Type 1 or Spinal Muscular Atrophy Type 1. 1 in 40 people carry the gene and one in 5000 babies are born with it. It is considered such a serious threat that it’s included in the updated version for the genetic screen for Ashkenazi Jews even though the rates aren’t higher for this population over the rest of the population. At 4 months of age Shira was diagnosed with SMA because we noticed she was not meeting regular physical developmental milestones. Days like today (reviving our daughter) are not uncommon and our lives are governed by the 24 our multi-disciplinary intensive care we deliver to our daughter Shira.

I’m crying as I write this, tearful, fearful, shaken to the core of my soul once again. I hear our daughter’s beautiful little voice echoing from the other room as she lays on the floor playing with her bubby. When Shira was diagnosed we were told, “There is nothing you can do just take your child home and love her until she dies.” In some ways this statement echoes true for all of us even those of us with regular healthy kids. We all take our children home and love them until they or we die don’t we. What a thing to say to a patient and her family. Shouldn’t the more appropriate response after diagnosing anyone with a terminal illness be we can’t cure your daughter of this disease but we can support you in caring for her and help you deliver a high quality of life to her? What drives doctors to be so HOPELESS? In our world we believe there is only endless HOPE not a hopeless end. There is also a big difference between delivering daily care to a person with a life threatening illness and just diagnosing them with an illness. Most doctors have never had to care for a sick human being they just advise other’s on what to do and I’m sure 50% of the time the advice is riddled with personal biases and no experience to base the advice on. We have only met one doctor who said, “I have no experience with this illness but together we will find out what to do, create a plan and implement it.” We have realized that doctors are people to and suffer from the same daily afflictions the rest of the population suffers from and so great care must be taken when prognosis and advice is given. You must be on your toes and advocate for your child at every moment, due diligence becomes second nature and conventional wisdom must be locked away.

When death is near and has been fended off again you can’t help but feel you are walking on the Bridge Of Life (Gesher Hachaim). It’s thought that the bridge of life is a bridge between past and future. When people ask me if I have received any gifts from my experience caring for our daughter or learned anything I respond with, “ I have never been so present, I don’t have time to think of the past and I certainly don’t think of the future because the future almost always does not include being with our beautiful daughter. Being completely present, in the moment, aware of our daughter’s breath, this is the gift!” “ (Tehillim 34:13) If someone wants to live (a true life), he must “love days” – love his days to the extent that they should not be lost, but remain preserved for him(Gesher Hachaim by Rabbi Tucazinsky).” Another soul shaking lesson I have learned is visit the sick. Compassion without Action is empty and one must act and actually do something that will benefit someone in need. Bikkur cholim or Visiting The Sick has become a passion of mine. Until our daughter was born I’m afraid I did not do my share of visiting the sick. If I could pass on any advice from our families experience it is to reach out, visit and help out those in need after all it’s a Mitzva (good deed). We have felt so lonely at times, abandoned, and left out. Yes illness is scary but you will find when you get to know these people, children, with life threatening illness you will increase the joy and remove a lot of the oye from your own life.

Another question we are often asked is what keeps you going? Why do you do this? Well we love our daughter and we would do anything for her is our reply. The second answer I give is a quote from a Hasidic Sefer (from a book titled Wrestling With The Angel Published by Schoken) I read when our daughter was about a year old that gave us comfort, peace and hope. “How will we recognize those we loved when we meet them after 120 years in the world-to-come? If they died young, will they have grown old? If they were hurt or wounded, will they have healed? How will we know them, how will they know us if we have changed or aged? The answer is that we will know them, we will recognize them because they will be clothed and cloaked in the mitzvahs we do in their name.”

Wednesday, May 18, 2011

Three new screening tests for diseases available as Jewish Genetic Disease Consortium trains more rabbis, reaches out to intermarried.

Published on The Jewish Week (

Home > ‘It’s Not Just Tay-Sachs’


‘It’s Not Just Tay-Sachs’
Three new screening tests for diseases available as Jewish Genetic
Disease Consortium trains more rabbis, reaches out to intermarried.

Amy Spiro

Editorial Assistant

Tuesday, May 17, 2011

Brad and Maxine Fisher with son Sam, 8 and daughter Shira, 5, who suffers from Spinal Muscular Atrophy.

When Shira Fisher was just 4 months old, her parents already knew that something was wrong. She had frequent problems with choking and serious “physical developmental delays,” said Brad Fisher, Shira’s father and full-time caretaker.

Her parents brought her to several different doctors, before she was finally diagnosed (with the help of Brad’s Internet research) with Spinal Muscular Atrophy, Type 1. SMA affects the motor neurons that control voluntary muscle activities, like walking and swallowing, and causes their degeneration. Cognitive abilities are generally not affected.

At the time of Shira’s diagnosis, “we’d never heard of it,” said Fisher, who was told by doctors that Shira had little chance of surviving past the age of 2, and that he — and mom Maxine and big brother Sam — should “take her home and love her.” The family refused to give up, pursuing experimental treatment and therapies, and Shira will turn 6 next month.

The Fishers did no genetic screening before getting married or having children. “It wasn’t on our radar,” Brad said. But today SMA is one of three new diseases recently added by the Jewish Genetic Disease Consortium to a growing list of conditions for which Jews should be genetically tested.

The JGDC now recommends that any couple in which one member has an Ashkenazic Jewish grandparent be tested for 19 separate conditions, up from 16 last year. When the organization was launched six years ago (though Jews had been tested for years before it began), it recommended testing for 11 disorders. Over the past six years, that number has grown as new screenings and tests became available. New to the list are SMA, Joubert Syndrome Type 2 and Walker-Warburg Syndrome. These diseases are not newly discovered, or recently linked to the Ashkenazic population. But since screenings for the genetic mutation for all three only became widely available this year, the JGDC is now cautioning Jews and others to take advantage of the tests.

While the medical advisory board “has known about these diseases” for a while, said Randy Yudenfriend-Glaser, chair of the JGDC, “unless you can screen, there’s nothing to do.” She also noted that couples who have been screened in the past, and are planning to have more children, should get re-tested for these disorders. And she wouldn’t rule out the list of recommended tests growing in size. “It’s never going to shrink because the diseases don’t go away,” she said. “People think we’ve wiped Tay-Sachs out of the population, but we haven’t; we’ve tested it out.” Carriers of the disease are still common in the population. The medical advisory board of the JGDC bases its decisions “on carriage rate, but also on the severity of disease,” said Yudenfriend-Glaser.

Randi Chapnik Myers knows firsthand just how devastating Walker-Warburg Syndrome can be. She and her husband were screened for Tay-Sachs before having children. When their first pregnancy, in 1995, ended after doctors said the baby would not survive beyond birth, they thought it was a fluke. And after having two healthy children, the Toronto family never imagined the problems that would ensue. Chapnik Myers lost twin babies in 2000, and then a third the next year. Doctors made a diagnosis of Walker-Warburg in two of the three fetuses. “Not only had I never heard of it,” said Chapnik Myers, “I was told after my first loss that it wasn't genetic.”

She hopes that the new availability of screenings can help other women avoid her pain. “Having to wait until 20 weeks to be diagnosed, having a formed fetus growing inside of you, a human being, and moving in to maternity clothes and planning for a child” was incredibly difficult, said Chapnik Myers. “Going through seven deliveries for three children [the third child was born after all of the losses] was a strain emotionally and very physically.”

Since 2005, the JGDC has been reaching out to families, through its community outreach program, and to physicians, with its Medical Grand Rounds Program, hoping to spread awareness of the need for genetic testing in the Ashkenazic Jewish community. Last fall, as reported in this paper, the JGDC launched its Rabbi Education Program, aimed at urging rabbis to discuss genetic screening with couples during pre-marital counseling.

“[It] was the missing link which really rounds out our program,” said Yudenfriend-Glaser. To date more than 150 rabbis across the tri-state area have attended a seminar run by JGDC, and signed a “rabbi pledge,” promising to discuss genetic diseases with young couples.

Recent training events include sessions in Buffalo and Monroe, N.Y., as well as at the Jewish Theological Seminary earlier this month. JGDC is working on developing an online system for rabbis to be trained. Those who already took part in the sessions will receive updated information about the newly added diseases.

The JGDC’s goal is to combat the major misconceptions about Jewish genetic diseases — one of which is that intermarried couples don’t need testing. To that end they are also developing means to reach interfaith couples to raise their awareness.

One of the messages the JGDC deems most important is, “It’s not just Tay-Sachs,” said Yudenfriend-Glaser. Even as she tours synagogues and Jewish centers today, Yudenfriend-Glaser encounters people who are unaware of the dire necessity for genetic testing. She met with a rabbi this year “and he told me, ‘we don’t have any of that in our lineage.’ I did a double take,” she said. “You hear this from educated people; they really don’t realize how much is out there.”

Most importantly, she said, “people need to be advocates for themselves. They should go in armed with a list of the tests and say this is what I want done.”

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Copyright 2010 The Jewish Week


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"This book is dedicated to the health care organizations that not only raise money for research to seek cures for neeruomuscular diseases but also train and encourage health care professionals to provide the high-quality care necessary to prevent mortality while cures are being sought." - Dr. John Bach (From the dedication in Dr. John Bach's book Management of Patients with Neruomuscular Disease)

"Non intervention in fatal illness becomes a self fulfilling prophecy." - Dr. John Bach

"The phrase is apt to cause disquiet. There have been those among us who have arrogantly judged, from a vantage point of power, the value of a human life. They have made decisions based on their assessment of a person's quality of life about providing supports to sustain that life. This attitude peaked in Nazi Germany, where such decisions were used as the basis for genocide. We like to think that we have moved well beyond this perspective, but important decisions about people's lives are still being made from positions of power. Such practice is difficult to combat, especially in a period when responsibility of government in the area of human and environmental services is being cut back."- Introduction by J. David Baker (Quality of Life in Health Promotion and Rehabilitation)

"The creative spirit is not indestructible, but a courageous few discover that when in hell, they are granted a glimpse of heaven."-Anthony Storr

"The opposite of Compassion is Indifference." - Jean S. Bolen MD

"He who preserves one soul is considered as if he had preserved a whole world." (Talmud, Sanhedrin, 37A)

"To serve, to strive and not to yield." - Outward Bound

"Those of us who deal in science, even the most enlightened of us, have a strong and objectionable tendency to hubris. Hubris for scientists comes from an inadequate knowledge and appreciation of the past. Discoveries are thus made and claimed that are really rediscovered - not new advances at all, but history lessons. I have to concede priority to people who came before me. Rediscovery is every bit as good as discovery, If what is rediscovered is important and was forgotten. It is better still when the rediscovered information has the capacity to improve the lives of those around us."-From the book THE SECOND BRAIN by Michael D. Gershon, M.D.

"Throughout human history, as our species has faced the frightening, terrorizing fact that we do not know who we are, or where we are going in this ocean of chaos, it has been the authorities, the political, the religious, the educational authorities who attempted to comfort us by giving us order, rules, regulations, informing, forming in our minds their view of reality. To think for yourself you must question authority and learn how to put yourself in a state of vulnerable, open-mindedness; chaotic, confused, vulnerability to inform yourself. Think for yourself. Question authority."
-Timothy Leary

"Palliative care works with - not instead of - other treatments. It can start as soon as the family knows the child is ill. Palliative care does not mean "giving up." Good palliative care can help all seriously ill or injured children, not only those who are dying." -
When Children Die: Improving Palliative and End-of-Life Care for Children and Their Families

"What, then, constitutes medical humanism? I would suggest four core values: First is the preciousness (or sanctity) of each human life. The second value is respect for human dignity. The third core value of humanism is the celebration of human diversity. Finally, the fourth core value of medical humanism is a sympathetic appreciation of the complexity of the human condition- how difficult it is for anyone to meet all of society's idealized expectations regarding individual and interpersonal behaviors, and how history and circumstances have conspired to make it especially difficult for some."~ The physician-scientist, the state, and the oath: Thoughts for our times Barry S. Coller

Monday, March 28, 2011

Our Weekly Shabbos Ritual!

Living and caring for a child with a terminal illness is not only about coping it's also about trying to find ways to keep strength and thrive during the greatest challenge of our lives.
Here is a video showing how Maxine, Shira and Sammy bake challah every shabbos. Shabbos is the jewish sabbath and the ritual around the Sabbath is full of light and joy and bonds our family close together. I can't express in words how much joy this little holiday from the world brings to our family every week. The video can be found by pressing on the link below.

Tuesday, March 1, 2011

Shira Fisher, honorary Rink Of Dreams captain

Shira Fisher,
honorary Rink Of Dreams captain,
invites one and all to the
“Rock and Roll Rink Of Dreams” Family Tailgate Party!!

Saturday, March 19th
11am – 3pm
Bear Mountain Arena Parking Zone
The Event

Telus is setting the stage for a live rock band concert in a massive heated tent.

Jive with your family to the rhythm of:
Invasion 62
The Wharf Street Band, and
That 70’s Band!!

There will be also be tasty food stands, cool drinks, steaming hot chocolate, mascots, Telus Kinect playstations and playzones, and more!!!

Entrance is by donation only. All proceeds are for kids of Vancouver Island who - just like our honorary captain - face life-threatening conditions.

It’s all part of the 24 hour Rink Of Dreams
(March 18/19 at the Bear Mountain Arena) in support of the Help Fill A Dream Foundation.

For more information please visit: