Wednesday, October 14, 2009

Diagnosis and DNA

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.


Anonymous said...

I have come to believe, like you, that I won't get my answers about Nathan (and our other babies and my dad) this side of heaven either. The not knowing is a challenge, but I'm not sure the knowing would bring me much satisfaction at this point. Nathan's future is uncertain, undoubtably better than it was 12 months ago...I hope I enjoy the good parts of the "ride" as long as I can. Jack is Jack, and Jack is just about the sweetest, wisest little boy I have ever met. Thank you for allowing us to know him.

worthy said...

No matter what his diagnosis, Jack is still an amazing boy who lights up everyones day with his smile and we all adore him xx

Janis said...

Well said, Ann. We are in the same boat with research right now. I was just about to blog about it. It is hard to know no matter how much they search it won't change anything for or kids. ((HUGS))

ssouth said...

Though our sons share the same diagnosis, I know their everyday lives are vastly different. We've struggled with how far to push for answers too. Ben's having a procedure Monday and I had it in the back of my mind to ask for another biopsy, but chose to keep quiet. We've decided for now just to make Ben's quality of life our focus and try to let go. You are a model in that regard for me. You have done everything in your power to make Jack's moments full and rich. Yet you're open to possibilities of helpfulness and answers for others. Good luck on this new plane of acceptance and keep on dancing.

Susan said...

Even if it doesn't change anything at least it's DONE. No more reading medical journals unless you want to. Hugs to you and Jack. Thanks for letting us watch while you dance in the rain.

Karin said...

Well said, Ann. I was asked to submit to genetic testing if I ever wanted future children, because or geneticist thinks Alex might have a heretofor unidentified variant of Sticklers. There is a big part of me that doesn't want to, because, like Jack, a "negative' answer doesn't mean that we don't have it. It may just mean that they don't know where to look for it yet. On the other hand, if they do find it, we do great work in a very prevalent and little understood syndrome, and we give Alex, my nieces and nephews, and my future children and grandchildren a valuable piece of information, even if it is a piece of information I don't think I need. It won't change my mind about whether or not to have more children. (After all, Angela and Alex can't get married while either of us is still alive (HAHA, truly, a joke.)

It is a good thing to let them look, if Jack isn't too bothered. We are all the beneficiaries, even if we feel a little like the guinea pigs.

Melisande said...

Yes, Ann, you and I think too much alike. I am still however, without rest until there is a diagnosis. I just need to know. So far, our doctor still would like to know too. It's harder and harder to remain focused on that because Donovan's so much improved and improves every year. My worries are on those things, without a diagnosis, that may go undetected that need a certain level of monitoring over time. I can't just say "it's all better now" and go on just yet, because where still a ways from that.

One of our neurologists, not your neurologist, at SLCH, was convinced, until just recently Donovan had Joubert Syndrome. I didn't believe it after reading the research and cases, it just didn't fit. After submitting Donovan's MRI to the "expert" review for genetic studies, Donovan doesn't have Joubert Syndrome! Mom was right! Ha! But the jokes on me because we're just where we were before, no real diagnosis.

We are just crazy, aren't we? We try to control the known because of our fear of the unknown. (I better speak for myself, huh?) Well, I do anyway!

Love you, Ann, as always!!