Scientists mostly use viruses to get the job done, because viruses infect by invading cells and injecting their own genetic material.īut the viruses can cause trouble, even seemingly harmless ones. For one, it’s hard to get a new gene into the body, to get cells to take it up and use it. If a patient has a disease caused by a single mutated gene, just replace the bad gene and everything should be all right. ![]() children, including Colton and Abbygail, eventually tweaking the method so that it worked. Kohn and colleagues tried gene therapy on 10 U.S. Kohn enrolled him in the clinical trial being reported Tuesday in the journal Blood. The current treatment is to regularly dose kids with the ADA enzyme, but the treatment doesn’t work well and it is very expensive. “I went on the Internet and I was freaking out.” She was sure Colton would die. “Never go on the Internet to figure out what your kid has,” Ainslie said. “At first, I didn’t know what it was.” Colton was air-evacuated to Children’s Hospital in Los Angeles and Ainslie and her husband Michael followed. “They finally came up with severe combined immune deficiency-ADA,” she said. Some doctors told Ainslie it was nothing serious, but she pursued testing. “Hearing those words, I wanted to give up.” Later, “they labeled him ‘failure to thrive’,” she added. He had bad thrush, and Ainslie made repeated trips to the emergency room. Then I started noticing he wasn’t keeping anything down,” said Ainslie, now 28. “Then all of a sudden he started getting this cough. Most patients die by the time they are about 2 from some infection, because their immune systems just can’t fight off germs.Īinslie saw it with Colton, who was born prematurely, at 26 weeks, but seemed to have recovered– at first. Their bodies produce a faulty version of an enzyme called adenosine deaminase or ADA. SCID is a catch-all name for a number of genetic immune deficiency syndromes that affect about one of every 100,000 newborns.Ībby and Colton both had a type called SCID-ADA, which account for about 15 percent of SCID cases. He’d been helping run a clinical trial – early-stage testing of new treatments – for gene therapy for SCID. Donald Kohn, a professor at UCLA’s Department of Microbiology, Immunology and Molecular Genetics, was. "In my experiences, it seems that they often think of themselves as educators rather than entertainers.Dr. "It really seems like producers and show writers are really trying to do a good job in getting the facts straight on rare disease," said Dunkle. NORD occasionally receives phone calls from television producers who are in search of information for medical dramas such as "Grey's Anatomy," "House," "Boston Med" and Discovery's "Mystery Diagnosis," said Dunkle. "If school nurses and administrators have seen a program about a disorder and they happen to have a child with that disorder, they tend to be more understanding." "These shows can even help with the way children get handled through the schools," said Dunkle. Mary Dunkle, vice president of communications at NORD, said that rare disease portrayals on these television shows are exciting, partly because the exposure could lead to research funding and raise awareness in the medical community, but also because patients can feel isolated with a rare disease, and they want others to understand their condition. "We thought it would be interesting to have a long-term arc with someone who was going through it." ![]() "VHL is one of those syndromes," said Clack. "I like how they're giving us time to get to know this guy and really like him." "It's an interesting premise, and so far has been presented in an accurate and fair way," said Graff. So far, Joyce Graff, executive director of the VHL Family Alliance, is pleased with the portrayal of the rare disease. ![]() "We wanted to show that a patient living with chronic disease can be just as full of life, just as 'normal' as someone who doesn't live with one, but obviously has different issues and concerns." Zoanne Clack, co-executive producer of "Grey's Anatomy," wrote in an e-mail to ABC News. "Something we've wanted to do on 'Grey's' is portray someone living with a chronic disease instead of dying from one," Dr. But the patient has maxed out his insurance. 10, 2011 — - In a multi-episode arc on " Grey's Anatomy," actor Scott Foley plays a von Hippel-Lindau (VHL) patient, diagnosed with a dangerous adrenal tumor.ĭoctors at the ABC show's fictional hospital, Seattle Grace, know that the tumor needs to be removed, as it can cause sudden bursts of adrenaline at random intervals, leading to panic attacks, racing heart beats, high blood pressure, heart attack or stroke.
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