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JEWISHDC |
Familial Dysautonomia -- The Unknown Jewish Diseaseby James S. Galfund Justin had barely made his entrance into the world when first-time parents Stacey and Adam Sachs realized something was wrong with their newborn son. "I could tell immediately," said Stacey. "Justin was having difficulty breathing, sucking and swallowing." He was rushed by ambulance from Shady Grove Adventist Hospital to Georgetown University Hospital, where he stayed for the next five days. When doctors were unable to determine a cause for his problems, Justin was taken back to Shady Grove, where he remained under observation for another two days. Doctors still couldn't discover anything out of the ordinary, and so, a week after he was born, the Gaithersburg couple finally brought Justin home. That was not the end of Justin's saga; rather, it was only the beginning of a months-long ordeal of crises and misdiagnoses. Finally, just a few weeks shy of his second birthday, doctors determined that Justin suffered from familial dysautonomia (FD) -- a rare and often fatal genetic disease affecting only Jewish babies of Ashkenazi descent. FD, which causes dysfunction of the autonomic and sensory nervous systems, is so rare, in fact, that when Justin was diagnosed, he became one of little more than 500 children worldwide known to be stricken with the disease. Unlike another disease that affects Jewish children, Tay-Sachs, there is no prenatal diagnostic test or carrier test for FD. Moreover, lack of a family history is no guarantee that couples are not carrying the defective gene. In short, parents have no way of knowing they are carriers until the birth of their child. The odds of giving birth to an FD baby are long, which makes the diagnosis especially devastating. It is estimated that one in 30 individuals of Ashkenazi ancestry carry the FD gene. For a child to become afflicted, both parents must carry the defective recessive gene that induces FD, and the likelihood of that happening is only one in nine hundred. Then, each parent must pass a copy of their recessive gene on to the fetus -- a one in four probability. Because FD is so uncommon, doctors frequently attribute its symptoms to other causes. When he was one month old, Justin came down with pneumonia. Pneumonia is a commonly associated hazard of FD, caused by aspiration of fluid into the lungs from misdirected swallowing. Adam and Stacey took Justin back to Georgetown Hospital, where doctors attributed Justin's pneumonia to a digestive disorder known as reflux, which can also be a consequence of FD. Later, the first of three muscle biopsies was performed, and this time, doctors told Stacey and Adam their son suffered from mitochondrial myopathy, a degenerative cellular disorder. Adam recalled the doctor's grim diagnosis: "He told me he knew of only one other person similarly affected, and that person died." Nonetheless, doctors remained puzzled, as Justin's symptoms didn't quite match the mitochondrial myopathy pattern. Adam and Stacey persevered in their quest for definitive answers. They took Justin to Atlanta's Emory University for further mitochondrial myopathy testing, and then to Baltimore's Kennedy-Krieger Institute. It was there that doctors finally suggested that Justin might be an FD baby. Adam and Stacey made an appointment with Dr. Felicia B. Axelrod, the world's leading authority on FD, who confirmed the diagnosis. Now the Sachs family entered a traumatic new phase. They had found their answer; now, they would have to deal with its consequences. For example, FD babies have decreased pain sensation, and can injure themselves without being aware of it, resulting in further complications. Just such an incident took place when Justin broke two bones in his wrist with no obvious signs of distress. Stacey only noticed the injury when she saw her son crawling on his elbow. Other FD complications include an absence of certain taste buds, decreased sensation of hot or cold, poor weight gain and growth, and the inability to shed tears. Justin receives drops four times each day to keep his eyes moist. FD victims also have problems controlling blood pressure and heart rate. This can cause children to faint when they try to exert themselves, as their blood pressure and heart rate do not increase correspondingly with the exertion rate. The greatest fatality risk with FD children is pneumonia, and for that reason, Justin is fed via a tube through an opening into his stomach, ensuring that his lungs remain clear. He also underwent a radical surgical procedure whereby a portion of his stomach was wrapped around his lower esophagus to further prevent complications from reflux, the common precursor to pneumonia. Stacey and Adam initially resisted the procedure. However, a near-death experience that had Justin breathing through a ventilator for nearly a week because his lungs filled with fluid changed their minds. It was his third bout with pneumonia, and this time, said Stacey, "We didn't think he was going to make it. The doctors told us that surgery was no longer an option." Justin is tube-fed five to six times each day, and can be fed only a few ounces at a time. Nighttime, when he is pump-fed 17 ounces of fluid, is when he gets the bulk of his daily nourishment. Nighttime, however, is not quiet time. "It's difficult to get through the night," said Stacey. "Some nights we're up constantly." The intelligence level in FD children is normal, and, in fact, aptitude tests show Justin's receptive and cognitive skills to be above average. Yet, in terms of developmental milestones such as walking and talking, Justin, who turned three on June 1, lags behind other children in his age group. "You can't measure his age in normal years," explained Adam. "In an FD year, there are over 500 days. He might have just turned three on a regular calendar, but not on the FD calendar." Justin took his first tentative steps just four months ago, and, although he understands everything that is said to him, he is still unable to talk. To help Justin express himself, Adam, Stacey and Justin's nurse have been teaching him sign language, and he now understands approximately 40 signs. Justin undergoes speech, physical and occupational therapy, and for Stacey and Adam, every milestone is cause for hope. "It's easy to become overwhelmed with sadness and frustration," said Adam, "but as long he continues to show improvement, we can deal with Justin's condition." The couple also gains a measure of comfort and support by communicating with the parents of other FD-afflicted children via the Internet. Exchanging e-mail with families all over the world, Stacey and Adam share experiences and problems and also get new ideas on how to cope with FD. Their professions also give them an edge in understanding Justin's condition -- Adam works in the bio-technology industry, and Stacey is a medical illustrator. "Ironic, isn't it?" he remarked. The one thing they are not holding out hope for is a cure. "That's not within the realm of scientific possibility," Adam said matter-of-factly. "The nerves were never fully developed. You can't re-build something that never existed in the first place." With a cure unlikely, the Dysautonomia Foundation is taking a different approach. Because there is no way of determining whether a couple will have an FD baby -- and even parents of an FD child are at risk of having a second afflicted infant -- the foundation has contracted a geneticist to hunt for the elusive gene. Once the gene is isolated, couples can have screening tests to determine whether they are indeed carriers, or whether a developing fetus has the disease. Dr. James Gusella, of the Molecular Neurogenetics Laboratory at Massachusetts General Hospital, has been researching the gene for five years now. He has made tremendous advances, and, according to Lenore Roseman, executive director of the Dysautonomia Foundation, "We're very close. It won't be tomorrow, but we're confident it will be very soon." She added that progress made to date has enabled a test to be developed for parents who have already given birth to an FD child. The test identifies the DNA markers that flank the FD gene. To date, the test has resulted in 23 normal babies being born to FD families. Roseman added that a stepped-up public awareness campaign has enabled the foundation to raise in excess of $1 million in funding annually over the past few years. In addition to the foundation, there are two major treatment centers for FD, one at New York University Medical Center, and another at Hadassah Hospital in Jerusalem. While researchers continue their efforts, parents like Stacey and Adam try to help their children live as normal an existence as circumstances allow. Justin, a sweet, happy boy with sandy hair and big eyes, especially enjoys books and the computer. In July, his parents will enroll him in Strawberry Knoll Elementary School, where Montgomery County offers a special program for children with developmental delays. The program is five days a week, and said, Adam, "mainstreams kids as much as possible." The program will allow Justin to continue receiving therapy while adapting to a school environment with other children. Adam, an avid hockey fan, fantasizes about Justin one day lacing up his own hockey skates. They hear about FD kids in college, and see pictures of afflicted children Rollerblading and participating in normal, everyday activities. While encouraged, Stacey and Adam don't want to get too hopeful. Said Stacey, "We've learned to live for the moment. We're thankful for the good days, and have learned to deal with the bad days. Justin is our ray of sunshine, and, with our love and support, and his courage and determination, we have no doubt he'll surprise us all." |