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Christine Hallahan, organizer of the event, decided to create her first walk in honor of her six-year old niece, Emma, who suffers from Tay-Sachs disease, a genetic neurological disorder. Hallahan committed herself to raising awareness and funds for the fatal disease, which can affect anyone. Hallahan said that the event was also meant to create awareness about the disease. "Everyone should know about it," said Hallahan. "Like any other disease, it's definitely important to raise awareness." The minimum donation for the event was $10, and children under 12 were admitted for free. Donors received free T-shirts, and community service credit was awarded to student volunteers. Donations were made via mail and through the event's website. In total, close to $10,000 was raised, Hallahan said. Many helped contribute, including students of Rambam Mesivta High School of Lawrence, who helped raise $326. The mission of the National Tay-Sachs & Allied Diseases Association (NTSAD) is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives. Hallahan, who walked with Emma at the fundraiser, described the event as a positive, beautiful day and one that was successful. Friends, colleagues, and others attended, offering support for her efforts. "I was touched," she said, happy that after weeks of preparation, everything went smoothly. "I appreciate the people that stepped in to do what they could." To learn more, visit www.firstgiving.com/christinehallahan.
Sick Texas Sheep May Aid Tay-Sachs FightBy Lauren F. Friedman
Initially, the Horaks suspected that their sheep were suffering from a skeletal problem, which is relatively common in their rare breed, the black-wooled, white-spotted Jacob sheep. Seeking answers, they drove the sick lambs, Lanos and Avenger, from their ranch outside of Dallas to see veterinarians at Texas A&M University. The lab results revealed that the problem ran deeper than the bones: The lambs were suffering from some kind of neurodegenerative, lysosomal storage disease, but the scientists at Texas A&M couldn't figure out which one. Due to an absent or misfolded enzyme, such diseases cause a buildup of material in cells that a healthy body would break down or recycle. This leads to a variety of symptoms that can include deafness, blindness, dementia, seizures, organ swelling, abnormal bone growth, developmental delays or problems with breathing, heart function and movement. Fred Horak wanted to figure out what was going on with his lambs so that the problem could be contained. He feared that the genetic disease, left unattended, could spiral out of control, wreaking havoc on future generations from the Jacob breed, which traces its roots in the United States to just 20 sheep brought over from the hills of England and Scotland some 50 years ago. "This is a gene puddle we're talking about, not a gene pool," Horak explained. A team of Texas A&M scientists piled into a van and drove down to the Horaks' ranch in Lucas, Texas, in search of answers. They took blood and tissue samples from the rest of the flock and investigated pedigree. The Horaks agreed to help the research along by trying to produce more affected sheep, on the condition that the scientists would work on an enzyme carrier test that might enable them to eradicate the disease from the Jacob breed. But before anyone could determine exactly what was afflicting the lambs, Lanos and Avenger died - less than a year after they had been born. Over the next five years, the Horaks sent several sick sheep to the lab at Texas A&M, where pathologist Brian Porter and his team studied samples in house and also sent them to other labs around the country. Every so often, Fred Horak would call and get the same reply: Sorry, nothing yet.
Kolodny is a national expert on Tay-Sachs, and about 40 years ago, he helped solve the mystery of the disease's enzyme defect. His lab at NYU had previously found Tay-Sachs in two flamingos at the National Zoo in Washington, but humans and flamingos are quite different, and the discovery did not present many opportunities for research that might benefit human sufferers. In addition, there were questions of feasibility. "How can you keep a big flamingo in an animal laboratory facility? You can't," Kolodny said. "There was no chance we could reproduce Tay-Sachs in these flamingos for experimental purposes." But sheep are different. Their brains are large, close in size to human brains and 1,000 times larger than those of mice or rats. Sheep's reproductive tendencies also make them perfect candidates for genetic testing. "I won't say they're promiscuous," Kolodny said, "but they mate every year, and they're sexually mature at 1 year old." Lambs also tend to be born as twins, making the likelihood of producing a lamb with Tay-Sachs twice as high. Kolodny calls the sheep model of Tay-Sachs "almost ideal." Kolodny explained all this to the Horaks, and they got on board immediately. "It was the first time they had run across naturally occurring Tay-Sachs in a domestic large animal that could be controlled," said Fred Horak, who now speaks with authority on Tay-Sachs and the significance of the research going on with his flock. "Joan and I just said, 'What can we do?'" The answer was clear: If the Horaks could deliver more Tay-Sachs lambs, then the Tay-Sachs Gene Therapy Consortium, which aims to initiate a human trial of a Tay-Sachs gene therapy treatment within two years, would be able to test the therapy on a large animal model, a key step on the road to human trials. "In agriculture, when you have a deleterious gene, you usually try to weed it out of your flock so that you don't lose money on dead animals," Kolodny explained. "But [the Horaks] recognized the enormity of the discovery and how it will help mankind." They agreed to answer the consortium's plea and began making deliberate pairings between the Tay-Sachs carriers in their flock. In March, a year earlier than everyone expected, four lambs with Tay-Sachs were born. They were quickly transported to Auburn University in Alabama, and Douglas Martin, a researcher who specializes in molecular therapy for neurodegenerative disorders, took charge of their care. In mid-June he gave two lambs their first treatment, an injection created by Miguel Sena-Esteves, a vector design expert at the University of Massachusetts Medical School. It was based on the healthy sheep gene that had been sequenced in Kolodny's lab. At press time, the lambs seem to be doing well, but Kolodny urges caution. "Gene therapy has not been very successful in treating other neurodegenerative diseases so far," Kolodny said. But the Tay-Sachs Gene Therapy Consortium's members are constantly working to improve the vectors that allow the treatment's delivery to the brain. "We're hopeful that [these] improvements will make it a more successful undertaking that actually leads to survival and improved quality of life for children," Kolodny said. Kolodny is not alone in seeing potential and possibility in the Jacob sheep.
His family knew from the start that - like all Tay-Sachs babies - Evan had almost no chance of surviving past the age of 5. His mother, Shari Ungerleider, remembers early conversations with doctors as being absolutely devoid of hope. "There is no cure even close to being found," she recalled them telling her. "I don't know if there even will be in your lifetime." Just 10 years later, when the Ungerleiders heard about the plans for gene therapy in Jacob sheep, they were amazed. "My husband and I looked at each other in shock," Shari Ungerleider said. "We never expected this." Justin planned an adopt-a-sheep program as his mitzvah project and immediately began spreading the world. For $125, he invited his guests to adopt one of the Horaks' sheep. "Justin mails them a picture of the sheep with name, date of birth and a piece of fleece," his mother explained. "Then he sends updates to everybody about what's going on at Auburn." The idea has taken off, with others using their bar and bat mitzvahs to promote Justin's project. So far, the adopt-a-sheep program has raised nearly $10,000 - all desperately needed to cover the costs of the sheep's care and transport. "Finally," Justin said, "there's some hope."
Intermarriage Spurs Tay-Sachs AdvisoryBy Lauren F. Friedman Citing rising Jewish intermarriage rates, the leading organization devoted to combating Tay-Sachs is urging doctors to encourage the use of more comprehensive testing methodology to identify carriers of the deadly genetic disease. The National Tay-Sachs & Allied Diseases Association issued its position statement on Tay-Sachs carrier screening in September 2009. The statement stressed the importance of using enzyme testing to discover whether individuals are Tay-Sachs carriers, rather than relying solely on DNA testing, which it warned is becoming "less sensitive" as "the Ashkenazi Jewish population becomes less homogeneous." In the 1970s, when the first Tay-Sachs screening programs were set up, the only carrier-detection method was enzyme testing, which uses a blood sample to look for the low levels of Hexosaminidase A enzyme that suggest someone is a Tay-Sachs carrier. In recent years, however, DNA testing has enabled screening for a battery of Jewish genetic diseases all at once via a saliva or buccal sample. DNA testing geared toward Ashkenazi Jews searches for specific genetic mutations that cause Tay-Sachs and are prevalent among this population. But it does not turn up other Tay-Sachs mutations that are more prevalent among non-Jews. Rising levels of intermarriage mean that the traditional Ashkenazi mutations increasingly are not the only ones that Jews have to worry about. "As Jews have become a more mixed group, there is less and less chance that those mutations are the only ones that can be found in Jews," said Dr. Jodi Hoffman of the Tufts Medical Center, who led the NTSAD advisory panel that recommended updating the guidelines. "Anyone who has ever had someone marry into the family who's not Ashkenazi can have a different mutation." When two parents are both carriers of mutations that cause Tay-Sachs, each of their children will have a 25% chance of being born with the disease. Despite common misconceptions, Tay-Sachs does not affect only Jews. One in 30 Ashkenazi Jews is a carrier, but carriers are equally common in non-Jewish French-Canadian and Cajun popultions, and Irish people also have a relatively high carrier rate. The carrier rate in the general population is about 1 in 300. According to the NTSAD statement, DNA testing first became available in the 1990s and screening for three mutations has yielded a 92% to 98% success rate in identifying carriers among people of entirely Ashkenazi descent. Intermarriage, however, is making the Jewish community more heterogeneous. "The genetic mix in our society is not as segregated as it once was, so the simple DNA test may not be effective anymore," said NTSAD's executive director, Susan Kahn. DNA testing for three mutations among non-Ashkenazi individuals is reported to have yielded a detection rate of only about 20%. Even when the DNA test looked for five different mutations, the success rate climbed to just 60%. Enzyme testing, which studies have shown to be 98% reliable in detecting Tay-Sachs carriers, works by measuring the Hex-A activity in serum or white-blood cells. In babies born with Tay-Sachs, the absence of Hex-A enzyme causes lipid buildup in nervous system cells, especially in the brain, which almost always leads to death by age 5. Carriers, though asymptomatic, have lower levels of Hex-A that can be detected in a blood sample. Because enzyme testing measures actual rates of Hex-A rather than looking for specific genetic mutations - which can be different in different populations - intermarriage does not compromise its reliability. The decreased level of Hex-A is analogous to a fever: It is easy and straightforward to measure, even though its underlying cause - in this case, a mutation - may be difficult to pinpoint. The NTSAD statement expressed concern about people who have had a DNA test opting out of enzyme testing. While it stated that "DNA testing is the appropriate screening modality for many other genetic disorders," it urged medical professionals to emphasize the importance of enzyme analysis, which it recommended "as the primary testing modality for identifying carriers for Tay-Sachs disease." The statement suggested that "DNA testing can and should be used to confirm Tay-Sachs enzyme results, to clarify indeterminate enzyme results, to identify cases of pseudodeficiency, as well as to provide molecular information for reproductive procedures and genetic counseling." "DNA testing is nice because it can be confirmatory," Hoffman said. "It provides added information, but enzyme testing is the gold standard."
Test, and Then Test Again, Experts AdviseBy Lauren F. Friedman With additional mutations for genetic diseases continuing to be discovered among Ashkenazi Jews, genetic screening advocates are urging people to get tested for newly identified diseases, even if they have already been tested for other diseases. Some people may assume that since our genetic make-up is fixed, a DNA test is something that needs to happen only once. But experts recommend that Ashkenazi Jews should avail themselves of the new genetic information that becomes accessible over time by getting re-tested as new mutations are found. Even if you were screened two years ago, even one year ago - before each baby, check back," said Faye Shapiro, genetic counselor at the Victor Center for the Prevention of Jewish Genetic Diseases. Maybe there haven't been any new diseases added, but if there have been, get re-screened for what you haven't been screened for." The American College of Medical Genetics released a statement several years ago that outlined three major criteria that should be met in order for a test to be included in a battery administered to a given target population. First, a disease must be severe enough that it would affect someone's reproductive choices. Second, the carrier frequency must be at least 1 in 100 in the target group. Third, the accuracy of the detection test must be 90% or higher. Conforming largely, though not exclusively, to these criteria, many screening advocates are now encouraging Ashkenazi Jews to be tested for 18 diseases, a number that has risen from nine in recent years, due to new mutation discoveries and carrier screening advances. (The new number includes the newly discovered mutation for Joubert syndrome, for which screening will soon be more widely available.) The Victor Center, along with other organizations that specialize in genetic diseases, is trying to rid its public of the outdated notion that getting tested once is enough. People need to be screened and re-screened to remain consistent with new tests," said Debby Hirshman, national director of the Victor Center. Our website has always said that." Shapiro recounted hearing terrible stories from couples who were shocked when a second (or third, or fourth) child was born with a genetic disease - especially with one that might have been detected, if only the couple had been tested again. We absolutely want people to realize that screening for new diseases has become available," she said. Dr. Harry Ostrer, director of the pediatric genetics program at New York University Langone Medical Center, agreed. They'll think they were tested for everything, and then they may find out they weren't," he said. They'll find themselves blindsided."
Tay-Sachs, MSUD Added to Social Security ListBy Maia Efrem The Social Security Administration has added two genetic diseases that affect Ashkenazi Jews to its Compassionate Allowances list, expediting the awarding of disability aid to sufferers and their families. Tay-Sachs and Maple Syrup Urine disease were added to the list effective March 1, 2010. They were among 38 diseases and cancers added to the original list of 50 conditions established by the Social Security Administration in 2008. Two other diseases that disproportionately affect Ashkenazi Jews, Canavan disease and Niemann-Pick disease type A, were on the original list. Once a disease is identified as one that is recognized on the Compassionate Allowances list, it goes on a fast-track and it can be approved within days," according to a Social Security spokesperson. Stefanie Putkowski, a clinical research assistant at the National Organization for Rare Diseases, said that sufferers from rare disorders can sometimes become embroiled in a long process where they are denied benefits. This is a small blessing for parents or patients who need the disability assistance as soon as possible," Putkowski said of the additions to the list. According to the Social Security Administration, parents of disabled children under the age of 18 can apply for Supplemental Security Income and receive up to $674 a month, with the amount varying based upon the income of the parents and the number of individuals in the household.
Four year old Filipino boy affected with Tay-Sachs4S 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. For further information, go online to NTSAD.org.
Daughter Inspires Dad's Quest for CurePublished 8/28/09 in The Jewish Daily Forward 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 WinPublished 8/28/09 in The Jewish Daily Forward Conventional wisdom dictates that runners, like most athletes, improve with experience. 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." |
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Fred and Joan Horak have been ranchers since 1985, so 11 years ago, when Joan noticed that two lambs from her flock had tilted heads and wobbly legs, she knew something was amiss. Little did the Horaks know that their discovery of these two sick lambs would end up providing new hope in the search for a treatment for a deadly genetic disease that afflicts humans.
Finally, in 2008, almost a decade after Lanos and Avenger had first fallen ill, a definitive diagnosis arrived from Dr. Edwin Kolodny at the neurogenetics laboratory at New York University's Langone Medical Center. Kolodny and his team had undertaken a complex discovery process that included sequencing the relevant sheep gene. The lambs' cause of death was Tay-Sachs, and its discovery in Jacob sheep offered an unprecedented opportunity to test a gene therapy for the disease among humans.
Justin Ungerleider was only 2 years old when his brother Evan died of Tay-Sachs, but he has faint memories of sleeping beside his older brother. Justin saw his own bar mitzvah, in October of last year, as a chance to do something more. "I knew how I felt about my brother, and I imagined how other families would feel," Justin said. "I wanted to help."
