Up-date

We had Ainsley's Neuromuscular apt on Tuesday.
We were grateful we didn't have to wait until July to get some answers.
We visited with the resident and then Dr. Mathews the Neuromuscular doctor.  Ainsley made some new friends that day!  
They wanted to see Ainsley walk and run down the hallway.
The second time they asked her to do this she was in her diaper only and she thought that was the best thing ever running down the hallway with an audience!
The doctor shared that while Ainsley has some indicators, she is not in her words a "slam dunk" for a muscle disorder--which is GREAT news!
She explained the chromosome deletion that Ainsley has only occurs in .1% of the population. 
Ainsley's missing chromsomes are just outside of the window of a muscular disorder that she has some of the characteristics for.
They have extensively studied that section of chromosome 4 and they haven't found a case for that neuromuscular disorder outside of those specific chromosomes. 
She did offer to contact a researcher in the Netherlands who does research on that section of chrome 4 since Ainsley has some indicators that give her pause...the CK levels in the 300 which is a hallmark of the disorder and a hearing loss.
Since there is no current test she can order for that specific section of chrome 4, it would have to be done on a research basis.  We will know within a week if he wants to sample Ainsley--she would provide a tiny, tiny skin sample for dna.

She said that she wouldn't "chase" Ainsley's CK level since it is only slightly elevated and told us not to worry.
She went over the warning signs of the muscle disorders and told us to bring her back in to be seen if we observe those signs.
We left there feeling very hopeful! 
This is the drawing the doctor did on the exam table.  Ainsley's chromosome loss is in the top box and the FSHD (muscle disorder) is in the lower box--both on chrome 4.  She was showing they are in the same neighborhood.
We left the doctor and breathed a sigh of relieve.


Ainsley liked watching the construction zone at the hospital.
We took Ainsley back to school so she could run around and play before lunch.
Ryan and I stopped by Red Lobster for a quick celebration lunch (thanks Sarah & Kevin)!!
The rest of that afternoon I was having a hard time feeling a complete sense of relief and I didn't know why.
After a lot of processing I realized that I didn't like not having a plan for monitoring the CK levels since they are still elevated over a 3 month period.  I don't like waiting until Ainsley starts showing greater muscle weakness--I'd like to catch it before that.  I felt so uneasy about not having a plan, I called Mayo to schedule a second opinion (because I thought it would be 6+ months before she would be seen and that would give us plenty of time to process).  They scheduled her for early June after hearing her history....we will most likely cancel that appointment, but it is comforting to know we have it on the books in case we don't feel comfortable after our apt on the 24th.
A quick pause in the story for this picture.  Ainsley WANTED this bike.  She was sweet talking to the mannequin, trying to pull the bike away-anything to get the bike.  Ryan came over to help Ainsley and he pulled so hard on the mannequin his arm fell to the ground.  Ainsley was so confused as to why his arm completely fell off and Ryan was mortified (so was I) that a store employee came over to help us.  We were a HOT mess trying to fix this poor boy.  She offered to get a bike from the back for Ainsley to try because she assured us this bike was bolted in (we are a determined bunch and tried our best to pry this bike from this mannequin).
Victory!
Our new plan is to try to rest in the fact that the Neuromuscular specialist assured us that at this time there is no need for concern.  We are going to meet with the kidney doctor on May 24th and at that time we will ask for them to check her CK level 2-3 times a year so we can keep a close eye on her levels.  If they are agreeable--Ryan and I would be happy to take a breather (and Ainsley too) and enjoy life!
Speaking of enjoying life, if you are at Panera you have to try their new tea!  It is hibiscus passion something or other.  It was purple, unsweetened (I added some sweet n low) and delish!  I might have had 3 glasses!
A special thanks to our family and friends for praying for our sweet girl this week and the doctor's visit. We appreciated your calls, texts, emails, facebook messages, etc--we can't tell you how much that means to us as a family.  

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