Thursday, March 6

Super girl (FSHD up-date)

February had some ups and downs with Ainsley's FSDH (Facioscapulohumeral muscular dystrophy) testing.  After we went to Mayo on February 7th Ainsley's Genetics doctor at Mayo consulted with the local pathologist who did her FSHD genetic testing.  He shared that she didn't have any deletions in the FSHD region--this was very different from what we were told in November and January.  The Mayo doctor called us with the "good news"  mid-February.  I told Ryan and something didn't seem right, so I emailed Ainsley's local neuromuscular doctor.  She called me on Monday and explained that there was some confusion over the phone with the pathologist/Mayo doctor.  Her original interpretation of the FSHD gene test shows that Ainsley's deletion extends into the FSHD muscular dystrophy region.  She shared it was still VERY back to square one...
She then said our ONLY remaining option FINALLY came through.  The FSHD researcher in the Netherlands (Dr. Leemers) agreed to repeat all of Ainsley's FSHD testing on a research basis!  
Ainsley's doctor said this researcher in the Netherlands is the "only person in the world" that can help us understand Ainsley's DNA in this specific region.  He will be reproducing the entire testing sequence and looking for where the distal breaking point is in her deletion.  She shared he is the "cream of the crop".
It has been extremely challenging over the past several months having pieces of information pointing to a potential diagnosis of muscular dystrophy of our sweet girl, but nothing concrete.  We either want to put this behind us or move forward helping Ainsley have the fullest life despite this diagnosis.  As a parent you want to fix things--find solutions, save the day.  In this case, I am humbled and grateful that Dr. Leemers and his staff will be pouring over Ainsley's DNA in the next few weeks to help us get some answers and hopefully save the day with some good news.  We all go in Monday morning for blood draws--they need samples from all three of us.  They wanted us to do it on a Monday so it can arrive to the Netherlands before the weekend.   We are thankful for our local doctors having connections and advocating for our sweet girl!

“Be strong and courageous. Do not be afraid or terrified because of them, for the Lord your God goes with you; he will never leave you nor forsake you.” –Deuteronomy 31:6

1 comment:

Angie said...

I am THRILLED that the doctor has agreed to look at Ainsley's case. I hope that you finally get some answers. No matter what happens Ainsley is a precious child with a beautiful spirit! I love her so much