Sunday, November 8

Genetic Results--Texas Children's


This journey that started 3 years ago when this picture was taken in September 2012 will hopefully come to a close on Monday, November 9.  Ainsley has her appointment Monday afternoon at Texas Children's Hospital in Houston, TX where we will learn the results of her tests.  It has been 175 days since we did Ainsley's last genetic test.  This is her 7th and hopefully final genetic test.   

At Ainsley's first genetic test (February 2013) her results showed slightly elevated levels of muscle breakdown in her blood.  They said, don't worry-recheck in a month.  We did and it remained elevated for the next several years...

 We've taken Ainsley to Mayo twice to try to get answers on the potential muscle breakdown and an overall condition for her hearing loss, thyroid.  They did more tests and recommended we check Ainsley's heart because they thought she may be a carrier of a muscle disorder.  Carriers have very mild symptoms, but their hearts can be affected.  

I'll never forget this night-we got into MN very late and Ainsley was NOT sleepy so we ordered pizza LATE that night and had a little party in the hotel room.  We were both so stressed out about the appointment the next day at Mayo, but Ainsley was loving life and having fun!

Ainsley getting her cardiac echo done in July 2013--she is such a trooper.   

November 2013-February 2014 we did 3 specific genetic tests for FSHD muscular dystrophy.  June 2014 we got the official news that Ainlsey did NOT have FSHDWe breathed a sigh of relief!  We settled into our new home and jobs in Waco and didn't think about this again until late fall 2014 when we got back a blood test that again showed slightly elevated muscle leaking into her blood.  We got Ainsley an appointment (March 2015) with a neuromuscular doctor at Texas Children's Hospital in Houston, TX.  This is Ainsley with her Iowa doctor, Dr. Thoma.  She is amazing and I'll never forget her kindly and lovingly telling us when we were going through this whole genetic testing journey in Iowa that we may NEVER have answers and an overall disorder for Ainsley. She wanted to prepare our hearts for this.

This was the March 2015 appointment at Texas Children's hospital.  Ainsley met with a wonderful neuromuscular doctor, Dr. Lotze who recommend we do a full genetic panel on Ainsley.  After 2 months of working with the insurance company we finally got word that the genetic company would work directly with us to make sure Ainsley got this test.  GeneDx specializes in genetic testing for rare hereditary disorders.  We got the blood work done in late May 2015 and the test can take up to 20 weeks.  We have tried not to be worried or consumed by the thought of the results, but I've had my moments. One moment that I remember vividly happened a month ago.  I was driving on campus and a sweet young woman walked in front of my jeep in the cross walk.  She struggled with every step.  I saw her and I immediately teared up. In an instant I thought about her struggles and challenges from what appeared to be muscular dystrophy. I thought will this be A's fate?  Will she be struggling to walk at some point too?

This was Ainsley with the genetic testing kit at the lab in May 2015.  We are ready to have answers on this 3 year journey. We have prepared our hearts for the variety of outcomes on Monday, November 9th.  We did get a letter on Friday with a specific syndrome listed--I think we got the letter by mistake.  It was addressed to our doctor from our insurance company denying a claim for the genetic test.  The syndrome just took our breath away because it does not have any thing to do with muscle breakdown, hearing or thyroid.  It is something completely out of left field. I called the insurance company on Friday and they verified that the doctor submitted the appeal on October 6, after the genetic tests were in hand--so that is not good news about the syndrome that was listed.  We are trying to remain focused on taking Ainlsey to the gulf on Sunday.  It will be her first time to see the ocean and then be fully present on Monday afternoon so we can get a plan with the doctor. 

Thank you for your prayers for our sweet girl.   

"Some things in life cannot be fixed.  They can only be carried." -Megan Devine

Psalm 139: 13-14 says "you made all of the delicate, inner parts of my body and knit me together in my mother's womb.  Thank you for making me so wonderfully complex!  Your workmanship is marvelous-how well I know it."  

No comments: