I received an email from Bekah's geneticist. He suspects she has a rare genetic disease called spinal muscular atrophy with respiratory distress type 1 or smard1 for short. In this disease the neurons that activate the muscles die in the spinal column never reaching the muscles. There's a blood test for it, but the doctor is hesitant to test because only 30-60% are diagnosed. He's having a conference with the othe geneticists to determine whether Bekah will review this test.
After receiving this news, I immediately turned to dr Google for more information. What I read floored me. The progression of the disease read like one of the pages of this blog. It was point by point accurate to Bekah's journey. Here's the website I found most useful http://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-respiratory-distress-type-1.
I feel like we're closer to a true diagnosis than ever and I will push for the test.
In other news, Bekah is doing really well and eating by mouth like a champ. She's talking a lot and experimenting with new syllables, but no true words yet.
