Skip to content

The Mystery Girl

December 11, 2011

Friday’s round of doctor’s appointments and testing went just about as expected. No real answers, but more questions to be sure. Mary has some of the very best doctors in the country working with her, but no one can come up with a diagnosis. The rush to find one often baffles me, except that to not find a diagnosis points to a more sinister diagnosis of mitochondrial disease- progressive and potentially fatal.

Not all of the test results are in from the latest round of testing, but many are. The doctors actually spent 3 hours discussing results and symptoms with me. A disturbingly generous amount of time for these highly sought-after specialists to be spending on my little girl. The spinal fluid collected from the spinal tap was sent off to Atlanta. It came back relatively normal. Neurotransmitters are all within normal limits. Some were a little on the low side, but nothing that would be causing the symptoms that we are seeing, and nothing worth treating. Great in that it means she doesn’t have any Parkinsonian-like syndromes. Not so great in that whatever it is appears to be untreatable. The MRI came back with some confusing results as well. Her white matter is not developing at the rate that it should be. This would point to a leukodystrophy- really scary stuff. The catch is, she’s been tested for many of those, and has come back negative. Then the conversation turns back to previous testing and how accurate certain gene tests are. Then they rehash the thing they thought she had last spring- Ataxia Telangiectasia or AT. They assured me that while that test was accurate (she does NOT have it), there are variations of it that she could have. Then they revisit Rett’s Syndrome. Again, could she have a variation of that? PTEN comes up yet again. Potential seizure activity that might be causing the regressions we’ve been seeing. You get the idea. Each time they go over these syndromes I feel like we’re running in circles. The only way they can rule out mitochondrial is to come up with something else definitive, and so far it would appear that she has the most normal genome one the face of the earth.

While they are discussing all of these possibilities, they again question me on any plans for future children. I give my regular response- it’s always a possibility. That ambiguous answer gives them reason to search a little faster, although I have no real plans for any new additions. Then I asked them about my little sister. She is thinking of starting a family soon. Is there anything she could do that would better her odds of having “normal” children? Really, my question is, was there anything I could have done differently for my own children. Their response is slow, cautious, and sickening. If we had a diagnosis, then prenatal testing could be done for that one diagnosis and then a decision could be made on whether or not to continue the pregnancy.

To think that someone would want to end a pregnancy, dispose of their child, rather than have him or her turn out like one of mine made me sick to my stomach. My children have their challenges, but I would never go back in time, knowing what I know now, and wish them never born. I know that recently, fewer children have been born with Down Syndrome, simply because prenatal testing has allowed parent’s to make a “choice” on whether or not those children should be born at all. Are we really to believe that a child with special needs is somehow worth less, somehow undeserving of life? What are we heading for in this society? Some sort of Galactica society where all children are genetically engineered to be “perfect”? I won’t get any further into this conversation, except to say that it made me sick to even consider that someone might think of children like mine as somehow disposable.

Mary’s neurologist gave me an article this time, called Notes From a Dragon Mom. It is a beautiful article written by the mother of a terminally ill child. Each time I see these doctors, they assure me that I will outlive my daughter. I’m not entirely sure that I will. After all, they’ve been wrong so far. But even if I were to lose my baby girl tomorrow, I would never go back in time and wish I hadn’t had her. Every day with her is a gift and a blessing that I would never trade- not even for a “normal” child. Perhaps the knowledge that our time together may be short has given us permission to love her even more, to spoil her a little extra and to indulge her and hug her as much as we can. Today my sweet girl is healthy. Today she is pressing her head to my chest, allowing me to inhale the sweet scent of the baby shampoo in her hair. She is nuzzling me and stroking my skin. Today, she is perfect. This is all I can ask for.

Looking back on the memory of
The dance we shared ‘neath the stars alone
For a moment all the world was right
How could I have known that you’d ever say goodbye
And now I’m glad I didn’t know
The way it all would end the way it all would go
Our lives are better left to chance I could have missed the pain
But I’d have had to miss the dance.

Garth Brooks – The Dance

No comments yet

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )


Connecting to %s

%d bloggers like this: