Thursday, February 6

Do not lose heart--traveling to Mayo today

We have been seeking clarity on Ainsley’s second muscular dystrophy test from our local doctors ever since the results were released to us on December 31.  They keep sharing that it is “complicated” so a few weeks ago I sent Ainsley’s Mayo doctor (Genetics) the results of her second FSHD (muscular dystrophy) results to get some help.
I said in my email to him that we were seeking his guidance and would bring Ainsley back to MN to see him if needed.  I have emailed him one time earlier in the fall about another concern for Ainsley and he gave us advice but didn’t ask us to come back to the clinic.  
This time was different.  He said, I think it is a good idea to bring her back.  
We trust him.  He took over an hour with us in person this summer.  Listening to us share our concerns.  He thoroughly evaluated Ainsley.  I feel that he genuinely cares about our daughter.  

Within a day of contacting him in late January his staff was working to get us scheduled to see the two doctors that he recommended.  They called me on January 30th and let me know Ainsley’s appointments (Genetics & Neuromuscular) would be on Friday, February 7. 
On Friday, January 31 I finally received a call from Ainsley’s local neuromuscular doctor.  She shared that the second FSHD test (to determine if the allele was A or B) was truly complicated because she is missing such a large section of that section of her DNA.  She said that we had reached the end of the road with the testing that is currently on the market and available.  
She emailed a doctor in the Netherlands to see if he wanted to look further at Ainsley’s case and she would know in a couple of weeks if he is interested.  She said there is not anything more that we can do.  
She said her gut feeling is that Ainsley has FSHD, but we can’t diagnose her with more definitive clinical symptoms since her genetic testing was complicated.   

This was hard news to digest—her confirming what we are seeing, even if it is just a gut instinct at this time.   

I am so grateful that within a week of receiving this news from her local neuromuscular doctor that we can seek more answers and guidance at Mayo.  

So we will make the journey back to MN today so that we can learn more about how we can support Ainsley if this indeed is her future.  Last time we made some notes of why we were going to Mayo and I think that the reasons are very similar to this visit.

Seeking peace—have we done everything that we can for Ainsley?  We want to leave no stone unturned.  Educated decisions—we like to make informed decisions. Knowing Ainsley’s diagnosis will allow us to set up services/resources for her as she begins school in a few years.  Relieving worry/waiting—for the other shoe to drop.  This is no way to live.  In a constant state of second guessing ourselves about her health.  We want to have reassurance that we are doing all that we can to anticipate her health concerns.

“Therefore we do not lose heart.  Though outwardly we are wasting away, yet inwardly we are being renewed day by day.” -2 Corinthians 4:16

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