A 13 minute short film designed to help educate and create awareness about Jewish genetic diseases and the importance of being tested.
Four year old Filipino boy affected with Tay-Sachs
4S RANCH - Jan and Ferd Marquez of 4S Ranch were the typical, elated parents who were overjoyed at the birth of their son. After all, Gavin was a perfectly happy and healthy boy for the first six months of his life.
But as time passed, he missed the developmental milestones. He began walking at 16 months but was floppy with little muscle tone. He also had a small appetite and was usually quiet.
"Everyone just kept telling us that all kids develop differently, and that boys usually are delayed, especially with speech," Jan said. "But we knew something was wrong."
After several medical evaluations, Jan and Ferd were given possible diagnoses - autism, ataxia, cerebral palsy and mental retardation. Physicians were unable to make an exact diagnosis and reiterated that Gavin, now 4, "is a very delayed child."
Finally, a specialist informed the couple last March of the finding: Tay-Sachs disease.
Statistically, most individuals affected by the disease are of Jewish, French Canadian or Cajun descent. The Marquezes are of Filipino descent. Kim Kubilus, director of family services for the Boston-based National Tay-Sachs and Allied Diseases Association Inc., said Gavin is the only known Filipino in the United States ever diagnosed with Tay-Sachs and is one of four known children with the juvenile form of the disease in California .
According to the National Tay-Sachs and Allied Diseases Association, Inc., Tay-Sachs is a rare hereditary disease caused by a gene mutation that leaves the body unable to produce an enzyme called Hexosaminidase A (Hex-A). Without the enzyme, a fatty substance accumulates abnormally in cells, especially those in brain nerves, progressively damaging them. The disease is incurable. It slowly leads to blindness , deafness, retardation, paralysis and eventually death. Children with the disease usually die by age 5.
The couple's 14-month-old daughter does not have the disease, but she does carry the Tay-Sachs gene.
Gavin's mental development is equivalent to a 3- to 6-month-old infant. He cannot walk unassisted because of muscle weakness in his legs and arms. He wears diapers and is fed through a gastrostomy tube because he can no longer swallow. He attends special-education school and is taken by bus to day care. At home, he has a special seat and a bath chair. Although Gavin undergoes physical therapy once a week, his parents are his arms and legs.
"When I got the call from the neurologist on March 2, 2009, the first thing he said was 'unfortunately,' and from just hearing that first word, I had to pause because I could not breathe for a moment," Jan said. It was so unbearable. It was as if you wanted to be a robot so you would feel no pain whatsoever."
Said Ferd: "There is always hope for everyone, but the biggest hope we believe is God. God will cure Gavin. Scientifically, we are confident that Gavin's condition can be cured through gene therapy, but currently human clinical trials will not be available until 2012 unless more allocated money, resources, and political pressure can be achieved to speed up the process."
In September, The National Institutes of Health awarded a $3.5 million grant to the Tay-Sachs Gene Therapy Consortium to continue research into the genetic disorder. The award was eagerly awaited by Tay-Sachs families and their supporters, who raised nearly $600,000 to assemble the international consortium of experts and help maintain its research agenda while scientists worked to secure federal funding.
The NIH grant will help advance an experimental gene therapy for Tay-Sachs and Sandhoff diseases from animal tests to human clinical trials. Several drugs are now being investigated, such as Ataluren PTC124. Drug companies are not permitting "compassionate use" for children with rare genetic diseases.
"It's very sad and difficult since we are desperate, but the pharmaceutical companies need to limit their resources to see if the drugs are effective on the common diseases, such as cystic fibrosis and Alzheimer's," Ferd said.
"Tay-Sachs can happen to any couple, even to those who are not part of the high-risk groups for the disease," said Kubilus, the Tay-Sachs association director. "We advise couples to seek genetic counseling, prior to conception, to fully educate themselves and make educated choices."
Harrison Ford film touches Tay-Sachs family
"I think it told the story very well and will help bring awareness to rare diseases and orphan drugs."
By DEBORAH MOON
Published 2/1/10 in The Jewish Review(Serving Oregon & Southwest Washington)
When Harrison Ford's latest film " Extraordinary Measures" opened in theaters nationwide Jan. 22, it hit home with at least one local family who hopes the film will spur efforts to find cures for some of the rare diseases that afflict some 30 million Americans, including Tay-Sachs disease which killed their son.
"Extraordinary Measures," starring Ford and Brendan Fraser, is about a father desperate to save his two young children from a fatal enzyme deficiency disease. Based on a true story, the film follows John Crowley (Fraser) who teams up with an unconventional scientist (Ford) to start a biotech company to find a cure for Pompe Disease, the rare disease threatening his two children.
Pompe Disease is the result of an enzyme deficiency that causes cell death. The disease is closely related to the disease that killed Portland tot Adam Davis in 2001.
"Adam was diagnosed with Tay-Sachs in 2000 and lived to be just 2½ years old," said mother Bonnie Davis. "At that time, there was no treatment and no hope for a cure. Now, just 10 years later, that cure may be on the horizon."
"We saw the movie Saturday night," she said. "I think it told the story very well and will help bring awareness to rare diseases and orphan drugs. The audience response in the theater was very positive. You could hear a pin drop during the movie and it ended to applause. I think people got the message."
Davis has been an active proponent of Tay-Sachs awareness in the Portland area and serves on the Annual Family Conference and the Development committees of the National Tay-Sachs and Allied Diseases Association, for which Crowley is a past president. Tay-Sachs is a genetic disorder more common among Ashkenzai Jews than in the general population, though thanks to a simple blood test to detect carriers, the incidence has fallen dramatically in the Jewish community over the past three decades.
Last Spring, Davis organized an education and awareness event at Congregation Neveh Shalom, which drew nearly 60 people to hear genetics counselor Gary S. Frohlich and OHSU professor Dr. Robert Steiner discuss Jewish genetic diseases.
Steiner, the pediatric specialist who diagnosed Adam, served as the medical expert on the set of "Extraordinary Measures," which was filmed in Portland and surrounding areas. Steiner is a nationally recognized expert on Pompe disease.
"I am hoping that the publicity from this Hollywood film will raise awareness on a more national level, bringing to light the thousands of families who are struggling with these diseases on a daily basis," said Davis. "While each of the diseases in this group is considered a rare disease, all combined, the number of people affected is actually quite large."
According to an NTSAD press release, 10 percent of Americans, some 30 million people, have some form of one of 7,000 rare diseases such as the one depicted in the film and the one that killed Adam.
"I have read the book that the film is based on ("The Cure," by Geeta Anand), and am in awe of what John was able to accomplish out of love for his children," said Davis. "What parent wouldn't do whatever they could to save their children from a fatal disease? John had the resources and tenacity to do more than anyone thought possible. My hope is that the movie will inspire people to get involved in some way, either by donating money, helping to spread awareness or getting tested for genetic diseases."
"Thanks to the efforts of the families of children with these rare lysosomal storage diseases, and their supporters, crucial funds were raised to organize a consortium of scientists to work on finding treatments and a cure for this group of diseases," added Davis. "These scientists recently secured a $3.5 million National Institutes of Health research grant. There is hope that a treatment or cure will be found within the next four years. The goal is to cure Tay-Sachs disease, but the therapies developed may also be pertinent to other diseases."
The NIH award was eagerly awaited by Tay-Sachs families and their supporters, who raised nearly $600,000 to assemble the international consortium of experts and help maintain its research agenda while scientists worked to secure federal funding, according to a NTSAD press release. The NIH grant will help advance an experimental gene therapy for Tay-Sachs and Sandhoff diseases from animal tests to human clinical trials.
Tay-Sachs and Sandhoff diseases are known collectively as GM2 gangliosidoses. Like Tay-Sachs disease, Sandhoff disease is a progressive neurological genetic disorder that is always fatal in children and can occur in all ethnic groups.
The consortium was formed two years ago as scientists refined a way to deliver two human genes - known as HexA and HexB - which are deficient in Tay-Sachs and Sandhoff diseases, respectively, according to NTSAD. Injection of these genes in the brain has been shown in laboratory mice to spur production of normal enzyme at levels sufficient to correct the enzymatic deficiency throughout the entire brain of these subjects.
Dakota Jean Bihn started dropping things at age 3.
That's how Ohio accountant Ken Bihn begins telling the story of his daughter, a tale that has led him down the unexpected path of starting his own foundation.
Dakota spent years bouncing between puzzled doctors. "She was clumsy, then she stuttered a little bit," Bihn said. By September 2005, after Dakota fell behind even in special education school, a friend referred Bihn to a doctor known for solving medical mysteries.
The doctor interviewed Dakota and her family, drew blood and called Bihn into his office two weeks later.
"He had a tear running down his cheek when he slipped a piece of paper across the table to me that said she had Tay-Sachs," Bihn said. "The only question I thought to ask was, 'Will she live to be 30?' He just shook his head, 'No way.'"
Following a couple weeks of crying, he embarked on what would become his life's pursuit: fighting for resources to treat a rare disease. After sending letters to Oprah Winfrey, Bill Gates and the usual suspects, Bihn began to realize, "You can't just wait for someone to write you a check."
So he started the Cure Tay-Sachs Foundation. Binh, who lives with his family in a suburb of Cleveland, incorporated the foundation in June 2007, and so far it has raised more than $921,000, much of it from donations of as little as $20. Fundraising techniques have run the gamut from an "adopt a mouse" program to fund research to T-shirt sales to an upcoming "ultimate sports auction," which will feature Cleveland Brown Eric Steinbach. The group funnels the money to research projects, including $325,000 to the National Tay-Sachs and Allied Diseases Association's research initiative, making Cure Tay-Sachs the initiative's largest single donor over the past two years.
"Ken has been a great inspiration for all our families to get involved, really showing how one person can make a difference," said Susan Kahn, director of the National Tay-Sachs and Allied Diseases Association. "He's always pushing us, pushing everybody to have more ambitious goals."
Until 2005, however, Bihn had never heard of Tay-Sachs. He said that although Irish-Americans, such as himself, have a carrier probability of one in 50, members of his ethnic group are less aware than Jews are of the disease. (Ashkenazic Jews have a carrier rate of one in 27.) When parents are both Tay-Sachs carriers, their child has a 1-in-4 chance of inheriting two copies of the mutated gene and having the disease.
Tay-Sachs results from a genetic mutation that prevents a vital enzyme, known as Hex A, from cleaning dysfunctional lipids from the brain. The cell buildup progressively wreaks havoc. The rare disease is notorious for being fatal to infants by the time they turn 3. Late-Onset Tay-Sachs and Juvenile Tay-Sachs - the variety Dakota has - are different forms of the disease in which the mutation does its damage at a slower pace.
Dakota can still walk, smile and throw kisses to those who love her. Though she is losing muscle functionality, Bihn says she still has the power to lift the spirits of others and inspire many to contribute to Cure Tay-Sachs. The foundation's Web site features a video called "Dakota's Dream," one piece of a larger strategy to spread the word.
Dakota, now 10, received a cord blood transplant in 2007 at Duke University. Though the blood she received was rich in Hex A, the transfusion did not work. Dakota was weakened by the hospital visit. Yet despite some changes, Bihn said her "essential sweetness" is still there.
"I have to keep fighting, even if I lose Dakota," Bihn said. "Someone has to draw a line in the sand and say, 'I'll fight until the fight's over.'"
Living With LOTS, S.F. Woman Won't Let Disease Win
Published 8/28/09 in The Jewish Daily Forward
Conventional wisdom dictates that runners, like most athletes, improve with experience.
A promising freshman cross-country runner might become the school track star by senior year.
But that didn't happen for Vera Pesotchinsky. As a high school student in California, Vera saw the opposite trend: She peaked as a freshman, then spiraled confusingly downward.
"I began to fall as a junior and senior in high school," recalled Vera, who is now 36 and lives in San Francisco. The early degeneration kicked off a nine-year stream of medical appointments.
In high school, doctors sent her to psychiatrists to be treated for depression. By the time she was 21, physicians were puzzled by abnormal MRI results. The uncertainty followed Vera as she transferred from the University of California, Los Angeles to Wellesley, the women's college that she graduated from with degrees in Russian studies and economics. But as Vera's handwriting and speech slowed along with her gait, the pieces started to fit together.
After many misdiagnoses - including Friedrich's ataxia and muscular dystrophy - that baffled physicians by coming out negative in blood tests, a doctor finally nailed it by the time she was 27: Vera had Late Onset Tay-Sachs disease, an affliction that is often unrecognized since it is an uncommon form of a rare genetic disease.
To infants, Tay-Sachs is a death sentence. But to Vera, who had never heard of the disease, the diagnosis offered some relief. "Finally, everything made sense," she said. "It made sense why I was always a klutz, why I couldn't run, why my speech wasn't quite right."
Unlike other forms of Tay-Sachs, Late Onset patients are not necessarily destined to the tragic early death for which the disease has become notorious. And Vera set out to make the best of it.
Her mother, Sophia Pesotch-insky, says that though Vera falls often and has difficulty walking up and down steps, one would have trouble finding gaps in her optimism. "We're lucky in a way that she is not depressed - half of all LOTS patients have manic depression," she said. "She's an inspiration for everybody around her. She told me, 'Even if I'm going to be in a wheelchair, I'm not going to be depressed.'"
Vera actively resists further neural degeneration on a daily basis. "I exercise a lot - I realize that I have to because if I don't, I get worse," she said. "There are some things I make sure not to miss. If I miss one thing, OK, I'm human, but if I miss several days in a row, I have a harder time getting it back."
Vera's beloved Dahn yoga is not only a meditative experience - it is an elixir, protecting her legs from further muscle damage. "I do not have a choice about it, and would rather be diligent than face the alternative," she said. "I might not have a choice about what I have, but I can choose what I'm going to do with it."
In addition to calmly fighting medical battles, Vera works on marketing and Web site upkeep for Hotel Vera, the hotel her parents own in St. Petersburg, Russia, Vera's birthplace.
Sophia, a medical device professional, has thrown herself into the fight to find treatments for her daughter's affliction, recently helping to develop a plan for a new clinical drug test. And, according to Vera, she dotes upon her determinedly independent daughter.
"I'm grateful for it," Vera said, referring to her mother's help. "But she can be overly involved - a Jewish mother."
