I have been wanting to write an update on Hailey (my niece), but I wanted to get Ashley's (my sister) permission to disclose this information first, and I kept forgetting to ask her when I talked to her on the phone. I asked her about it today, and she said "I was wondering when you were going to say something on the blog!" Sorry Ash! :)
I have wanted to write an update on her because, well, I love the little sweetie and she could really use your prayers...and because she has been one of the reasons why we have been referred to genetics and why our neurologist suggested it was indeed time for a muscle biopsy...
Hailey's newborn screening came back shortly after her birth with a red flag for a positive screening for MCAD: Medium chain acyl CoA dehydrogenase...a fatty acid oxidation disorder than affects mitochondrial metabolism. Sound familiar? Further testing for this came back this week...while they couldn't completely confirm or negate the MCAD diagnosis, her metabolic Dr. said that something does indeed seem to be going on metabolically due to some elevated amino acids. They are going to be running more extensive tests at her next appt. Ashley and I have had a good laugh over the fact that our kids absolutely refuse to be cookie-cutter and easy to figure out.
Further more, Hailey is being followed really closely by a cardiologist to keep an eye on the hole in her heart (VSD) and a mild problem with her heart valves. And she is going in for weekly weight checks because it seems to be difficult for her to gain weight as fast as she should...she currently weighs a teeny tiny 4lbs 11oz at one month old. They have an appt to see genetics in January, I believe.
Hailey's doctors are very interested in Nathan's issues, and our doctors are equally interested in Hailey. So now we have 2 sets of pediatric specialists in 2 different states trying to figure out this intense mystery. We do believe that there is a link between Hailey's and Nathan's medical issues...we just need to figure it out now.
I ask that you pray for little Hailey...she's so tiny and trying so hard to gain weight. Pray that the hole in her heart closes so she won't have to have surgery to repair it. And please pray that the doctors are able to figure out the metabolic issues that seem to plague both of our children. Whatever new information we find on Nathan will more than likely help Hailey, and vice versa.
The interesting bit of info is that Hailey's pediatrician went to school down here and is familiar with a lot of the doctors in our system. Ashley gave him a long email I sent with the highlights of Nathan's symptoms, care, and tests that he has had over the past 7 months, and he said that he is going to call their geneticist to talk about what could possibly be going on. I am definitely interested in what they have to say.
I promise to update with a picture of the sweet little neice that I can NOT wait to hold in a couple of months (at Christmas) when Ashley sends me a recent one...but I of course can't leave a post without a picture of something, right? He's no Hailey, but I think he's pretty dang cute.