Scarlett Update

Physically Scarlett is doing great, although she is still at Our Children's House. She's running (more of a fast walk, but she waves her hands around and proudly yells "I'm running!!"), climbing, playing, and getting stronger every day. Her speech is no longer slurred at all, and her vocabulary continues to blossom. (Last night she looked at Chris suspiciously and said, "I've got my eye on you, Daddy." The things that come out of her mouth keep us constantly entertained.)

We will have been at OCH three weeks Friday, and it is really starting to wear on all of us (except apparently Scarlett who informed me yesterday that she doesn't want to come home to play in her playroom and sleep in her crib because she lives at OCH now). Kind of funny on one hand, but sad on the other that she's been there so long she no longer misses home. Physically she could have gone home last week. The hold up is her eating and drinking. The condition she has that causes the rhabdomyolysis episodes can be triggered by not enough food or drink. Food will not be a problem, and she's almost up to eating as much as she does at home. Drinking, however, continues to be a challenge. She needs to ingest 36 ounces a day, which is a lot to get a toddler who's all too familiar with the word "no" to drink. At the end of each day the nurses give her the fluid she is still missing to reach her goal through the NG tube in her nose. If she's not meeting her fluid goals by mouth next week, she will likely come home with the tube in her nose. I am currently being trained on how to do that myself, although we have our fingers crossed that she'll start drinking enough to go home without the tube.

We received confirmation a few days ago that Scarlett does have the genetic condition that the geneticists in Houston suspected. Basically, one of her 25,000 genes has a "mistake" in the coding that causes her to have acute rhabdomyolysis episodes. The disorder is incredibly rare; only three children in the US have been diagnosed with it (Scarlett is the third), as well as only about three dozen people worldwide. It is surely more common than that, but since the affected gene was only mapped a few years ago it has only just now started to be diagnosed. The good news is that we know what it is and we know how to treat it when episodes occur. We are working with her doctors to come up with (1) a comprehensive treatment plan for if/when another episode happens; (2) what to do when a potential trigger occurs (for example, dehydration or lack of food due to a stomach bug, a fever, etc.) to avoid or minimize an episode; and (3) other general preventative measures like diet and drinking goals. I've already been in touch with two moms -- one here in the US and one in Australia -- who have children with the disorder, and they have been a huge help in sharing information, both medical and practical. Chris, Max, and I are all being tested next week, since the condition is almost certainly hereditary. We likely won't get the results back on that testing for 4-6 weeks.

Thanks as always to our family and friends for your support, good thoughts, and prayers. Hopefully I'll have an update soon telling you that Scarlett is home with us again.