About once a year my wife and I have the privilege of taking our daughter to see Dr. Susan Lewin. She is the geneticist who has followed our adventures from our little one's diagnosis with 1P36 Deletion Syndrome. Seeing her is always refreshing because she is the only doctor who knows more about 1P36 deletions than we do. So instead of explaining, my wife and I can listen to the advice and counsel she gives.
This year, Dr. Lewin and her team told us that my daughter is "the poster child" for 1P36 deletion syndrome. She has progressed the most and the quickest of any of the 1P36 deletion children she sees. Yesterday, the doctors kept rolling a ball across the exam room floor for my little one to go and get. They were just so pleased to see her crawling.
Dr. Lewin has also mentioned that the Genetics Department will be releasing some new literature in which my daughter plays a huge part, thanks to what they've learned from her. That made me so happy. Not because of any notoriety, but because this information will help other doctors who treat children with the same difficulties as my daughter. Now parents will have a better understanding of what to expect, and just how well their children can progress with 1P36 deletions. That, to me, is very exciting.
The news wasn't all rosy though. Dr. Lewin was in agreement with my daughter's regular pediatrician about my daughter's eating. She has plateaued in terms of her height, weight and head circumference. She recommended we see a Gastrointestinal specialist who will be able to help us diagnose any possible problems. And possibly advise us about a gastric tube implant to make sure my little one is getting the nutrition she needs. This didn't come as a huge shock, but it was so good to hear someone we trust tell us that it should take six feedings of over an hour each to properly nourish our child.
I am so thankful for doctors who practice medicine in order to better the human condition. Especially those who do it for children.