Monday, April 27, 2009

A Question of Curing

I absolutely love Jimmy Stewart. My favorite Christmas movie is It's a Wonderful Life. I cry Every. Single. Time. I watch it. He learned just how important his role was in the lives of the townspeople, and how he made a real difference. Ok, so pretend I'm a maple tree and call me Sappy - won't bother me a bit.

Savannah recently picked up Jimmy Stewart's comedy, Harvey, at the library. He plays Elwood P. Doud, a perfectly normal man, except that he is always talking to his imaginary friend Harvey, a giant rabbit that only he can see. A few of his friends go along with him, but every one else, including his sister, is positive he's lost his mind and seeks to commit him to the home for the insane. His sister manages to convince him that the curative treatment is a good thing, and because he loves her, he agrees to the fix-everything injection. He doesn't want it, and he doesn't want to lose Harvey, but he wants to make his sister happy.

After he agrees to be cured, his sister is conversing with a cab driver who routinely brings people to this doctor for the same treatment - a treatment that will make them fit in with polite society. The man tells the sister that he always enjoys the drive TO the asylum. He enjoys looking at sunsets and birds that may actually not be there. He likes the happy conversations with the people who tip generously and love largely. But he never likes the drive AWAY - after the cure, he says, those people turn into normal people who are mean, and he just doesn't like them then. The sister ultimately realizes that Elwood is just fine the way he is, and saves him from being cured just in time. They go back home with invisible Harvey tagging along.

In the world of Angelman Syndrome, we're searching for a cure. When Gabe was diagnosed eight years ago, we were told there was no cure, and led to believe that there probably never will be. This belief was premature. Researchers are now working on several possibilities to cure this chromosomal disorder, and have in fact cured it in lab mice. Scientists are specifically looking at three different types of a cure. They are unsure about how any possible cure could or would be delivered to humans. There are mountains of questions with barely a mole hill of answers.

I am excited about the possibility of a cure. Let's be honest...I'm ECSTATIC about a cure!! The idea that my son can someday walk without assistance, or carry on a conversation with me, or kiss his wife and tuck his children into bed after an exhausting day at the zoo... Who wouldn't want that for their children?

It really is more than I have ever thought possible. It is impossible for me to imagine what Gabe's life could be like if Angelman Syndrome is someday curable. Because the research is still in the early stages, the doctors have NO clue what a "cure" would look like, or if one is even achievable for older children and adults.


Science and technology advance so fast. Who would have thought, 50 years ago, that the genome project would ever become reality? Heck, 50 years ago was it even being considered? (Dr. Weeber, one of the researchers on the AS project, talked about this in the February 2009 FAST Newsletter.)

Obviously, a cure is years away, and I'm not holding my breath waiting for Gabe to wake up normal someday. That such a challenging word to define. Shortly after Gabe was diagnosed, I was in a heated debate on one of the online AS forums, and someone told me my thinking was "fundamentally flawed" when I made a comment about how it would just be weird to wake up someday to find Gabe standing over my bed, miraculously saying, "Hey Mom! Let's go to McDonalds for breakfast!"

(I'm not goofy enough to assume that any type of cure would give immediate results - I was sort of playing Devil's Advocate), but the direction that debate was going was basically that if a cure was available and we parents didn't choose to have our affected child participate, we would be horrible parents. However, I don't intend to let Gabe be a guinea pig for something that may or may not work, just because there's a possibility he could be normal. What is normal? Would Gabe want that? How can we know that he would choose that? Would we make our decision to accept or refuse treatment based on OUR wishes, or on Gabe's? What aspects of Gabe's life would change following a treatment? Would he still be a perpetually happy person? Would he advance through all the developmental stages he's not yet reached? Would a cure mean he becomes a snarly, crotchety old man who no longer likes to have the back of his neck tickled and no longer finds amusement in simply watching other people laugh?

Accepting Gabe's diagnosis wasn't easy for me. Realizing that the child I love will never be the adult I envisioned required me to travel down some roads that were full of very painful learning bumps. Now I'm being told that there's a possibility that I could someday be traveling another road to watch my son, maybe, reach the potential that I had originally hoped.

But what does GABE want? Does he want that cure? Does he think he needs to be fixed? What Harveys will he lose if we cure him?

Thankfully, I don't have to make a decision today. On that, you may quote me.


Paula said...

mmm.very good food for thought. you will know when it is time to be dealt with. I have to believe that their personality will not lost. But that is yet to be seen. I do think it is wonderful the way God is bringing about healing. Our children will have more options than before...what kind...only God Himself knows...but that prayer is slowly being answered!! So many emotions that are really hard to put into words, but you did well.

The Mother said...

Fifty years ago, antibiotics were new, people routinely died of childhood illnesses, and we had absolutely no idea what the heck was going on in the coagulation cascade.

Things are moving quickly these days. We are only decades away from having nanobots that can go in and rewrite the genetic code. Or provide fixes for genetically missing bits and pieces.

I'll keep my fingers crossed for you. And your son.

Wendy said...

This is such a well-written post and I don't know how to respond. But I wanted you to know good it was.

As for your Angelman, if a cure came for him ... how would he interpret the before & after? Would it be like waking up from a dream? How would you view how it was before?

Regarding some of your questions ... I would like to think that he isn't just his diagnosis. That the essence of him would still be there, after.