When we think about searching for the right diagnosis and treatment in the case of rare neurological diseases, we can compare it to fishing. To catch the fish—or in this case, to "catch" the right diagnosis and the treatment—requires resources, time and effort, knowledge, and some luck. Think about the difference between fishing with a line and fishing with a net: the single line is always going to produce a lot fewer fish than the net.
Trying to find a single doctor who can come up with the right answer is like fishing with a line. There will be a lot fewer fish caught and it’ll take a lot longer for those fewer fish. A net, on the other hand, doesn’t require a specialized hook or specialized bait, specialized leader or specialized rod or specialized reel, but instead every single knot on the net is as important as every other knot. Break one of those knots or break several of those knots and the fish will swim right through. Following that analogy, if we don’t have a well-knotted network of healthcare providers, then the net will be wide open and the diagnoses and the therapies will slip through and the children will not benefit. It is therefore most important that parents of children with rare and severe neurological diseases make certain that they use a well put together net (a systematic health care organization) to catch the diagnosis and the therapy.
This is what the parents of Gracie and Harrison did. They were committed to the catch and the process. They started with the right decision to communicate well and frequently with their pediatrician, Dr. Paras, and neurologist, Dr. Kossak. These are two superbly qualified physicians, strong knots in the first part of their net. The parents also worked with physical therapists and another physician, Dr. Carmella Jones, as they widened their net. Next they expanded their net to include the resources of CHaD and the New Hampshire Bureau of Medical Services, as well as other organizations. They didn’t proceed in a secretive or competitive way, but in an orderly, coordinated fashion. Every parent with a child like this will do well to follow the model of Gracie and Harrison’s parents and to build a strong, secure, broad net (or network) of people and services who can help.
Once the Colegroves entered CHaD, they were referred to the CHaD Neurometabolic Program. This program uses many care providers, with each having his or her own area of special knowledge and a national and international network of colleagues to tap into for advice and help. Dr. Richard Nordgren started pediatric neurology at Dartmouth and gives the benefits of his 30 years of knowledge and expertise. (It is valuable to visit the website link that describes each of the members and affiliates of the CHaD Neurometabolic Program. The program requires input from divisions of Genetics, neurology, neurosurgery, endocrinology, pathology, radiology, anesthesia, surgery, orthopaedics, developmental pediatrics, nephrology, gastroenterology, neonatology, and pediatric cardiology. It includes members at the major CHaD campus in Lebanon, as well as all our affiliated facilities throughout NH and VT, and the primary care physicians and the bureau of special medical services with which we have such close contacts.
The CHaD Neurometabolic Program works within a 1.6 million-person catchment area, the equivalent of a moderate sized city, but spread out over a 15,000 square mile area. This poses problems of transport and communication that CHaD has worked very hard to overcome through video links, electronic links, traveling lectures, outreach clinical programs. But once our patients land here, through whatever means they use, they become the focus of a multidisciplinary team of providers and scientists.
The pursuit of rare diagnoses such as Dopa Responsive Dystonia or other diseases is long and complicated. Again, to stretch the fishing analogy just a little further, like fishing, there is often a lot of time spent just waiting. Gracie & Harrison’s parents understood that. They recognized that answers wouldn’t come quickly; that many tests must be done; that the results of those tests are slow in coming; that there would be many unfruitful fishing expeditions in their search. But Gracie and Harrison’s parents possessed the quality of all good fishermen: patience and determination. They recognized that they were entering new fishing grounds with every diagnostic attempt, but they also knew that the catch—a better life for their children—was worth the waiting and repeated attempts.
Committed, dedicated, loving parents are the true heroes of a story such as this. The persistence and determination of the Colegrove parents, their refusal to give up, to continue seeking a definite diagnosis for the disease that had afflicted their children, was and remains commendable. At the same time they sought that diagnosis and the appropriate therapy to go with it, they made sure that the lives of their children were rewarding, fun, educational, and uplifting in every way. That’s a huge part of the partnership system at CHaD: the indispensable role that parents play.
For the neurologists, geneticists, and all of us in the Neurometabolic Program, the singular focus of the parents serves to reinforce the commitment each of us feels to our child patients. We at the Neurometabolic Program hope to use the CHaD system to build awareness that the tests exist for the diagnosis of DRD and other rare and severe neurometabolic diseases.
The consequences of failing to diagnose DRD and these other conditions are catastrophic. There is of course the personal tragedy for the children and their families, where excellent minds are needlessly trapped within an immobile body. Beyond that very profound tragedy, there is the severe and serious impact that a missed diagnosis has on us as a society. Undiagnosed individuals who continue to live with the disease may not be able to walk, feed themselves, or otherwise function independently. Over a lifetime, the care needed by a sufferer of an undiagnosed neurometabolic disease may reach as much as a million dollars. This includes lost wages, special education costs, special developmental services, and medical and surgical charges.
Current estimates are that there may be a few thousand people in this country with undiagnosed DRD. It is our hope that the Colegroves’ story and the information on this site will bring increased awareness to this disease and a renewed determination among parents who may be close to giving up hope. DRD is a rare disease and it won’t be the answer for every parent, but if we can help a few more Harrisons and Gracies, the rewards for all will be great.