Monday, December 16, 2013

A Little Background

I just met with a lovely man named Dr. G, who specializes in rare diseases. But before I tell you about his findings and theories, I realized I need to give you a little background.

You know already that Maisie has low-functioning kidneys and half of her left lung just doesn't work. She suffered from severe calcium deficiency as a baby because she could not digest lactose and thus has some funky deformed bones (bowed legs, crooked fingers). Some of these things are direct results from the attack, but many of them are side affects of the extensive nerve damage she sustained. I just want to make sure I've listed all the relatively little things that she deals with on a regular basis.

1. Vision. While she is not blind, we don't think Maisie's eyes work quite the way they should. She doesn't have the ability to see in the dark, for instance. Her eyes simply don't adjust to low light. She will also need glasses as she gets older because her cornea (the flexible lens over her eye that controls focus) is doing what everyone's does as they age: stiffening. Most people don't have an issue with stiff corneas until they are elderly, but Maisie's, for whatever reason, is growing stiffer and stiffer and in the next year or so she will start wearing glasses.

2. Seizures. Her whole life Maisie has had "simple partial seizures," which basically means one of her hands or feet will suddenly start shaking violently for about five minutes, randomly. There is nothing we can do about this. A wide variety of drugs have been tested on Maisie but she has responded to nothing. We believe that these are caused by a damaged nerve in Maisie's brain.

3. Hypotonia. Maisie was what is called a "rag doll baby," which means she had very low muscle tone for a long time. This is partly the reason she did not walk for three years, and she has been in Early Intervention (a baby physical therapy program) since she was just three months old to help strengthen her. Today Maisie has low muscle tone but not to the point that it impairs her. She can walk and run and jump and skip. Her arms are weak but strengthening, and she tires easily.

4. Digestion. The best way to describe the problems Maisie has with her digestive track, and indeed the way her doctors describe it, is "gastroenterological dysfunction." She suffers/has suffered from a variety of ailments that are random and sometimes go away on their own and sometimes require intervention, including high acid production, weak/thin stomach tissue, weak smooth (involuntary organ) muscles, enzyme imbalance, and inappropriate smooth muscle contraction. All of these things cause stomach aches, vomiting, constipation...basically any digestive issue you can think of, Maisie's had it. We are constantly adjusting her medication to suit her current needs and always on the lookout for issues. Any of these things could prove life-threatening. Indeed, her stomach is the scariest thing Maisie has to deal with.

5. Tetanus. When Maisie and I were attacked, I was stabbed by some kind of metal blade. Luckily I had been recently inoculated against tetanus, but Maisie, being a fetus, never had. She contracted neonatal tetanus and has been treated for it twice. We have no way to know whether this will continue to be a problem in later years or if it will eventually go away completely. But we are always watching for muscle stiffness, difficulty swallowing, fevers, accelerated heart rate, all symptoms of tetanus, all very frightening.

Not all of these little things are a problem all the time. Many, like the hypotonia, tetanus, and calcium deficiency, have been dealt with and (hopefully) are completely behind us. But, as you've seen if you've been around a while, Maisie is growing and changing constantly. Her rapid development from a baby to a girl coupled with her highly unique situation, means we can hardly begin to guess what the future holds for her.

No comments:

Post a Comment