The Diagnosis

Lily and her friend

I'm not sure how to begin this post or how to even write this. So I guess I'll just start with the facts. About a week ago, the day before Lily's first birthday, we received a call from her geneticist. The results from her genetic testing were in and there was a finding. Lily has a deletion on one of her X chromosomes (at site Xp22.13 to be exact). This was indicative of a documented metabolic disorder called Pyruvate Dehydrogenase Complex Deficiency. The geneticist didn't seem overly concerned. He said she'd need some supplements and frequent feedings to keep lactic acid from building up in her muscles. We hung up and, of course, I began looking for medical articles online.

Here's one. I won't go into all the medicalese. The main point is, it is degenerative, it has no cure, and children who have it do not make it past their teens. There are some therapies that can help slow the progression of the disease but it does not stop it.

We have spent the last week trying to come to terms with this and I can't. Not yet, probably not ever. I'm not sure what else to say at this point, except it breaks my heart. I pray that we can buy her enough time to find a cure, but I know that is unlikely.

There is part of me that wonders why my child? It's not fair. But when I think of it, really think of it, I know that I don't even need to really ask the question. Because mothers, parents, everywhere lose children everyday and it isn't fair for any of them. We are no more special than anyone else.

Lily is beautiful and I hope that we can make every moment she has as full of love as possible.

Neurologist

We went to the neurologist on last Friday for Lily's follow up. Everything went pretty well. He accessed her development and felt that she had made quite a bit of progress. In fact, she's made enough progress to mean that she may not qualify for the state funded therapy that we had just finally gotten into after three months of weekly calls! In many ways great! And an many ways sooo frustrating. After testing her reflexes, measuring her head, and talking about her development we learned that she's about 3 cm below the lowest percentile for head size but it looks as if she is following that growth curve, which is a good sign. She also developmentally is at about the age of 4-5 months although her tongue clicking is advanced even for an 11 month old. Again, it was hard news to hear and we wonder does that mean for every year of development she will advance 4-5 months in developmental age or will it begin to lessen as she gets older? How independent will she ever really be? The hardest part is that no one knows, not the experts, not us. It's just one day at a time. One bit of information we did get is that if she is able to sit independently by age 2 then she has a much better chance of being able to walk. So I guess that's one goal we can works towards.

We also got into a philosophical discussion about laughter (this is one of the reasons I love our neurologist; he doesn't dumb things down for us and has faith that we can keep up or ask the right questions). Lily doesn't laugh. She smiles ear to ear, squeals or clicks her tongue when she likes something. But no laughter. I wondered if it were a physical issue due to lack of muscle control but the neurologist didn't think so. He gave us a synopsis of a lecture he'd recently been to about laughter. First of all humans are the only primates that laugh. Second, it seems to be a way to diffuse a potentially emotionally intense moment. As he put "I see an anomaly, and I'm ok with it". Lily also doesn't have much of a startle reflex and Dan and I think she may not laugh because she isn't scared by anything. She isn't scared and she doesn't seem to realize that there is a need to diffuse a tense situation. Right now, that isn't such a big deal but it may prove to be an issue later in life. Most of all, we just hope to hear her giggle some day.

Ok, that's all for now. I'll put up a longer post with pics and (hopefully) some video later this week because Thursday is Lily's first birthday! I can't believe it!