There was a time in this journey that I wanted -- no, needed -- to know exactly what Jack's diagnosis was. I figured if I could get a diagnosis, then I could set out finding a way to treat (aka: fix) it. I spent hours upon hours on the computer researching and reading PubMed abstracts and articles. I took my information and pressed Jack's doctors with my theories of what could be wrong with him. I was bound and determined to find a name for Jack's condition, provided it didn't contain the words "muscular dystrophy". There was just no way my child had muscular dystrophy.
Fast forward to July 2005 and a week of appointments in St. Louis that included a bronchoscopy and eye surgery on the schedule. For some unknown reason the thought occurred to me, and I asked Jack's neurologist if she thought it might be a good idea to get another muscle biopsy from Jack while he was under anesthesia for his other surgeries. (Jack's first muscle biopsy was done when he was 5 months old.) She jumped at my "offer" and the procedure was added to the list. Incidentally, you'd never get a Children's Hospital in this City to coordinate the schedules of the ENT, the ophthalomologist and the neurosurgeon to perform their respective procedures on the same day, in the same OR, at approximately the same time, on the same kid!
A few months after we returned home, I heard from Jack's neurologist. Jack's muscle showed reduced alpha dystroglycan and he now had a diagnosis of "congenital muscular dystrophy secondary to reduced alpha dystroglycan". There was no more denying it - Jack had muscular dystrophy.
In many ways, Jack's diagnosis finally allowed me to "let go". People with muscular dystrophy don't get better (at least not yet). There is absolutely nothing that can be done to get Jack walking, talking, eating and breathing on his own. Jack's muscles simply won't allow it. It was time to cut myself and Jack some slack and stop setting and trying to reach goals that were not, and never would be, attainable.
The next few years were preoccupied with Jack's spinal fusion surgery and recovery and just dealing with every day life. With each passing year, I found it a little less difficult (but far from easy) to tell people that my son has muscular dystrophy. Although, signing on with MDA as one of Jerry's kids is still something I have not done and likely never will.
Fast forward to October 2008 and another trip out to see Jack's team of doctors at St. Louis Children's Hospital. During our visit with Jack's neurologist she told me about several new DNA sequence tests that could be done at the University of Iowa which could determine if Jack had one of the four known genetic mutations for Jack's type of muscular dystrophy. It was also the first time that I heard the truly "official" name of Jack's type of muscular dystrophy -- Dystroglycanopathy congenital muscular dystrophy.
Given the severity of Jack's disease, I was fairly certain that Jack wouldn't test positive (ie: he wouldn't have the DNA sequencing) for any of these genetic mutations. Because the testing is so expensive, they initially did DNA sequencing for only two of the genes: POMT1 and POMT2. They came back normal. About a month ago, they tested for the other two genes: FKRP and POMGNT1. When I was in New York visiting Hilary, I received an email from Jack's neurologist that provided in part:
"it should not shock you that Jack's POMGNT1 and FKRP sequencing came back normal. I have a rule that parents are almost always right about their children and you guessed this."
She went on to tell me that all the tests comment that "it should be realized that DNA sequence tests do not detect all types of disease causing mutations. Nucleotide variations in non-protein coding regions as well as whole or partial gene deletions and duplications may not be detected by this method."
During Jack's short lifetime, we've gone from an initial muscle biopsy finding of "myopathy, active chronic", to a finding of reduced alpha dystroglycan, to an official diagnosis of dystroglycanopathy congenital muscular dystrophy, to DNA sequencing to rule out four known genetic mutations for dystroglycanopathy CMD. Amazing!
Jack's neurologist assured me that she would talk with one of the top researchers in the field of muscular dystrophy (Dr. Kevin Campbell at the University of Iowa) about Jack's lack of genetic diagnosis and discuss other research avenues. I assured her that if Jack has taught me anything, it's that I won't get most my answers this side of heaven.
As I sit here today, I have my much sought diagnosis and I'm certain that I could find many articles on PubMed discussing Jack's specific disease if I felt like reading up on it. But the fact is, you lost me back in 2005 when I first heard the words "muscular dystrophy". While I appreciate the fact that Jack's neurologist is being persistent in trying to find out as much as she can about Jack given today's technology, I'm no longer interested in getting all the information. I really don't need to know what Jack's specific genetic mutation is. It doesn't change a thing for Jack. However, I realize in the big picture, it's important to study Jack in order to help others with his disease in the future. So, to the extent Jack's brilliant neurologist and the researchers in Iowa (and elsewhere) want to continue to unravel the mystery of Jack, we will support them.
After all, my kid has muscular dystrophy, whether I like it or not.