Tuesday, June 12, 2012

Great News

NIH Day 2:   Lily had another fabulous day.  She loves playing with her new friends and enjoys the testing.  The best part of the day was our meeting with Dr. Bonnemann, who is well known in the MD community.   After her muscle biopsy, our neurologist in Birmingham told us that Lily's Merosin is completely absent.  Merosin is the connective tissue within the muscles, we've done lots of research and have a basic understanding of this...not enough to explain it well.  Merosin basically holds everything together.

Silly Lily evaluating Dr. Bonnemann...this girl is always the boss :)

Dr. Bonnemann was surprised at how well Lily was functioning and wanted to see her biopsy and genetic testing results.  After several minutes of conferring with the other researchers in the room, with us having NO clue what they were saying...they finally explained that some of Lily's DNA codes could cause the muscle biopsy results to be inaccurate.  Based on her genetic results, Dr. Bonnemann thinks that Lily may be producing some Merosin!!!  He is requesting her muscle samples so that he can do different testing to confirm the presence of Merosin.  What does this mean?  Maybe nothing...but children who are Merosin deficient instead of completely absent MAY have milder symptoms.  Dr. Bonnemann explained that children who have no Merosin have very little chance of walking.  The presence of any Merosin can increase the chances of walking.  We were pleased to hear that, but are just as content with our Lily in a power chair as long as she is healthy.  I've said since we got her diagnosis that I don't care if she walks...I just want her to breathe!  So Dr. Bonnemann's next comment had us jumping for joy, it could also mean less pulmonary involvement!!!!

We are thrilled and can't wait to get the muscle samples to the NIH for more testing.  Regardless of the results, there is no guarantee of how Lily's MD will progress.  Every child's symptoms are so different, there is no way to predict what the future holds...just glad to know who holds our future :)  God has been so good to us!!

"For I know the plans I have for you...plans to prosper you and not to harm you, plans to give you hope and a future."  Jeremiah 29:11

1 comment: