My son Mick is eleven years old. He is a triplet. For most of his life we and his physicians have been trying to find a diagnosis for our son. At the age of 2 he was able to walk and talk. After a common cold, my son began to lose skills. He went from walking to crawling and now is wheel-chair bound. In addition to his mobility issues, he also has numerous neurological, pulmonary and gastrointestinal problems. He has been seen and evaluated by the top doctors at Johns Hopkins Hospital and still we do not have a diagnosis or treatment. As each year goes by he gets progressivley worse.
Within the past 5 years a test has been developed called Whole Exome Sequencing. This test can be very useful in diagnosing previously undiagnosed patients. According to the New England Journal of Medicine researchers at Baylor College of Medicine in Houston, Texas were able to diagnose 25% of 250 previously undiagnosed patients with suspected genetic disorders. The physicians and geneticists that work with my son tell us this is our best chance at finding a diagnosis and possibly a treatment.
Our health insurance has denied the coverage for this test. They are claiming that it is not medically necessary. We believe to deny this claim is unethical and we are asking for your support.
Mick is not alone. There are many more children like Mick; children who now have a fighting chance to find a diagnosis for their disorders, and hope for a plan of treatment. That chance, and that hope are being denied them by the insurance companies. We need your help to let the insurance companies know that marginalizing children with rare or unique disorders because it is more cost effective is unacceptable.