Giant...Gaping...Holes.

I think the biggest challenge in caring for a child with a rare syndrome is the lack of information available. In the age of technology, where you can learn anything about everything with a google search, having no search results becomes isolating.

In addition, the scope of a syndrome can be so great, that you feel like you must become an expert on everything in order to fully understand what is happening. This is where I am at with my daughter. I have a working knowledge of her gastric system, food pump, and swallowing disorder. I understand the way her brain differs from mine, and to a certain extent, how it will impact her development. Cardiology doesn't hold my natural interest, so I'm happy that all I need to know is that Martha will likely not need heart valve surgery as a child.

Beyond that, things get more complicated. After Martha was diagnosed last March, on the drive home I told Mark, "You know, I wished I would have just become a doctor." I had a fleeting thought about doing just that during college, thinking I had the drive to work hard enough to do it.

No, I realize, if I want the answers to the questions I'm seeking, I would have needed to be so much more than just a doctor. I would need to be a geneticist, and neurologist, a nutritionist, hepatologist, physical, occupational, and speech therapist, with a radiologist thrown in for fun so I can switch out my own GJ tubes.

Martha may be the only one out there like her, but I'm certain that I'm not the first mother to walk this trail. Still, I am a member of these support groups that absolutely drive me bonkers. I recently asked a support group if there was any information available on atypical development. There must be a resource out there that lays out the implications for missing certain skills, the importance of other skills, and how their delay or absence impacts the realm of lifelong development. Someone out their MUST know that information, or we wouldn't be doing all of this work trying to get Martha to "midline."

Instead of information from the support group, I get answers like, "Timmy rolled at 11 months, and stood at 24 months," explaining what each other's child did at what times. Or, "Janie walked around two, you just need to be patient," and the super ambiguous, "Each of our children are so unique, they all do things at a different pace."

!!!!!!!!!!!!!!!!!!!!!!!!!Ahhhh!!!!!!!!!!!!!!!!!!!!!!!

Then, there is the more serious side of things that are hiding in the corner. I feel like we're in a big lottery pool, and our name might be drawn on some prizes, and missed on others. Martha didn't draw the ticket for a cleft palate, and her heart ticket wasn't the jackpot, either. If her feeding and swallowing dysfunction were a lottery ticket, she'd win the powerball. But there are still tickets out there for epilepsy, mitochondrial disease, different dystrophies and degenerative muscle and neurological diseases. I keep looking at the way Martha's arms and legs are moving and wonder how many years she can get by without surgery.

But they all keep me in the dark. Because her doctors don't know when or if Martha will develop any of it. They can't rule any of it out, so they watch her closely. I ask about surgery, and they say, "We'll try to avoid it." It's then that my knowledge and education fail me. They know what's out there, what to look for, the tests to run, and when to run them. I don't. They know the implications for a child who will only use one side of her body at a time, and I don't. But in the midst of these specialties are giant, gaping holes where I'm not confident that a specialist will see the big picture, trapped in their pathology.

Several months ago a doctor remarked that maybe there was a place for me in the middle of this discovery, a way to trail blaze this condition that has only, and likely will ever only affect one person. My daughter. I can't tell you how much I wish that role had already been taken by someone else before me.

I want to read the book, not write the book.

Until the next things pops up...