September 11, 2007 @ 8:58 pm | Filed under: Special Needs Children, Wonderboy
Wonderboy had an appointment with a genetics specialist yesterday. This was an appointment his neurosurgeon had urged me to set up, even though I explained that the genetics department at our former hospital had done extensive testing and ruled out chromosomal reasons for my boy’s many "abnormalities." Their best guess was that Wonderboy’s issues are the result of a developmental glitch early on in utero, some influential cells marching to the beat of their own peculiar drum. Much as everyone would like a name to attach to Wonderboy’s collection of atypical physical characteristics, a name with a nice clear road map to show us the best route to take in nurturing this odd little man, the consensus was that no such name, no predefined syndrome, exists.
Wonderboy, I’ve been told by many a specialist, is a one of a kind.
But this neurosurgeon was insistent, and the geneticist he wanted us to see is, he declared, one of the most esteemed in the world. I set up the appointment, and I’m glad I did.
I loved her, loved her warm and easy manner, the instant camaraderie she struck up with my son. I loved the gleam of understanding in her eyes, and the shrewdness of her questions.
During the course of the appointment, I realized something about genetics specialists, something that was as true of our experience with that department back in Virginia as it was in Dr. J.’s office yesterday. All the other specialists we see—and don’t get me wrong, I am a very big fan of your specialty doctors, your surgeons, neurosurgeons, cardiologists, otolaryngologists, developmental pediatricians and the rest of the lot—though honesty compels me to admit I have yet to meet a neurologist who didn’t treat me like a pest, and my child like an interruption to his research—all those other specialists, I was saying, focus by definition on one little piece of the puzzle.
The genetics doctors are looking at how all the pieces fit together. What I realized during yesterday’s appointment is that Dr. J. was not just taking a history, she was eliciting a narration about my son. She wants his story, two or three generations back, if you please.
A doctor whose passion is story is a doctor I can relate to. A great deal of my life revolves around interpreting the cryptic, adorable, worrisome text that is my son. I study the pages of his life like a scholar, with a scholar’s passion for his subject. Dr. J. took a look at this book and found it every bit as compelling as I do.
And she surprised me. I raised the question I’d discussed with the neurologist: hadn’t Genetics already ruled out genetics as the explanation for Wonderboy’s alphabet soup of issues?
Not necessarily, says Dr. Jones. I told her what tests had been done in three years ago, and she nodded and said that yes, that sounds about right in regard to what processes were available in 2004.
"The thing is," she explained, "we’re good at reading chromosomes. But we’re not so good at reading genes."
But there’s a new test that decodes a bit more of the genetic cipher, and it’s possible—not likely, but possible—that cracking that code could tell us more about Wonderboy.
Something else about Dr. J.: delightful sense of humor. She didn’t even mind when I said, begging her pardon, that we see so many specialists it sometimes feels like trying to walk a bunch of dogs all pulling in different directions. "Forgive the analogy," I hastened to add, but she laughed and said that oh, no, it’s the perfect description.
I walked out of her office feeling like I’d found someone who could lend a hand with all those leashes.
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How wonderful for you to find a doctor you can not only trust & understand but also one who in another time & place you would have liked as a person.
Posted on September 12th, 2007 at 12:48 amThat is a very rare type of doctor most are ……. well, you know, not like that.
Maybe finally you will get some of the answers you need.
I can’t think of the right word to say here so this will have to do but I think things are looking promising, it quite exciting.
Hooray for you and Wonderboy! In my own case, it took me three years to find a doctor who believed that the puzzle piece was just as important as the rest of the surrounding pieces – to acknowledge issues as a system. It’s made all the difference. It sounds like this warm and wonderful healthcare specialist may be just what you need. Good luck!
Posted on September 12th, 2007 at 6:45 amI’m glad, Lissa, that it went well. Whatever you find out Wonderboy is just perfect. A wonderous creation of God.
I agree with you about the nuerologists. I’m on number four and I just send Dave now. For some reason the big important doctor doesn’s speak to my husband as if he were a half-wit they way he does to me.
Posted on September 12th, 2007 at 12:07 pmoh, i can so relate to this post. our ds (4.5yo) has an hereditary, but not genetic, condition. i didnt know there was a difference until he came along. i remember the geneticist saying it was not tied to a chromosome, but could be affected by genes, but that there was no way to test the thousands of genes he has. we usually see 6-7 specialists each time we are in the states, and of all those, i can only say one of them really is respectful to me and my son. so sad, as we parents of kids with special needs are so vulnerable. we felt stuck for a while, as these were the only drs our state program would pay for, but now we have begun the process to see drs at shriners hospital in chicago and already we have been treated like royalty by the admissions people there, especially in comparison to the bueracratic state health care providers. must go, could comment on this forever. thank you so much for sharing.
Posted on September 12th, 2007 at 11:07 pmmonica
oh, i can so relate to this post. our ds (4.5yo) has an hereditary, but not genetic, condition. i didnt know there was a difference until he came along. i remember the geneticist saying it was not tied to a chromosome, but could be affected by genes, but that there was no way to test the thousands of genes he has. we usually see 6-7 specialists each time we are in the states, and of all those, i can only say one of them really is respectful to me and my son. so sad, as we parents of kids with special needs are so vulnerable. we felt stuck for a while, as these were the only drs our state program would pay for, but now we have begun the process to see drs at shriners hospital in chicago and already we have been treated like royalty by the admissions people there, especially in comparison to the bueracratic state health care providers. must go, could comment on this forever. thank you so much for sharing.
Posted on September 12th, 2007 at 11:07 pmmonica
Dear Melissa,
What a lovely blog!
Keep the faith! We have walked your walk with our daughter, but praise God, our walk has been accompanied by a lovely, warm, Catholic pediatric neuro-biologist. Yes, they do exist.
Posted on September 13th, 2007 at 10:21 amLissa:
Glad you had a good Dr. experience! I applaud you for keeping at it- even though your son is God’s perfect gift and a one of a kind treasure, knowing more may be able to help him more in the future. I was blessed to have a wonderful neurologist in Brunswick, ME (his son is Autistic, so that may explain his kind and understanding nature). Keep up the good work!
Posted on September 13th, 2007 at 10:34 am