Let her light shine

Tuesday morning I was in the waiting room at the doctor (for a bad cold) and I got the call from Ainsley’s neuromuscular doctor.  I knew when I heard her voice and then heard her hesitate a bit with the news that it wasn’t good.

She said that Ainsley’s genetic test for FSHD showed that she has a deletion that extended into the FSHD region.  Anything less than 40 is an indicator of FSHD and one of Ainsley’s numbers is 28.  She said that it wasn’t a “normal” finding and she mentioned that nothing with Ainsley medically is black and white (which is so true).  

"Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder in which the muscles of the face, shoulder blades and upper arms are among the most affected.  FSHD usually begins before age 20, with weakness and atrophy of the muscles around the eyes and mouth, shoulders, upper arms and lower legs. Later, weakness can spread to abdominal muscles and sometimes hip muscles." Source:  http://mda.org/disease/fsh-muscular-dystrophy/overview 

Her doctor said she was thankful that we did this test because it provided valuable information, but we need more…she ordered another test to look at the “flavor” of that section of DNA.  If it is a certain “flavor” it will more definitively diagnose the FSHD.  Right now there is a 90% certainty that Ainsley has it since she has a deletion in the specific area of FSHD.  We will know those results in 3-4 weeks.  She still wants us to get the MRI of her spine (in early December) because there could still be a separate issue of her spine being bound (due to the toe walking).  She also mentioned we could sign Ainsley up for a research study for FSHD so we could continue to learn more about the overall disease and how it could affect our Ainsley.

It is hard to put into words how we are feeling.  We knew this might be a possibility last spring when Ainsley’s CK levels were slightly elevated, but at that time she didn’t have the other clinical symptoms.  Her hearing loss was only in one ear and was conductive.  It was only within the last month that we learned she has a bilateral sensorineural hearing loss, which is one rare symptom of this disorder.   

The part of this disease for me that takes my breath away is that it is a muscle wasting disease that affects the face, shoulders, back, part of the torso and feet.  It is a gradual wasting of the muscles with no cure.  

The part that scares us is that in May Ainsley was evaluated by her neuromuscular doctor and in June many doctors at Mayo and there was not a concern at that time of muscular dystrophy.  6 short months later we are back at the neuromuscular doctor with visible signs of possible muscle weakness and now a genetic test with concerning findings.

On Monday I was watching the West Wing while I was working from home and in the episode the President mentioned, “the Lord giveth and the Lord taketh away”.  I immediately teared up because I had a feeling that this news was coming from the doctor. 

We are very thankful for everyday that Ainsley has full function and now know at some point there will come a day that her muscles may fade.  

My prayer has been that Ainsley’s “light” and inner joy will not be extinguished.  

If this disease takes away her ability to smile and express herself with her face muscles I still want her inner beauty, joy, and light to shine.  That is my prayer.  If you know our Ainsley you know that she is JOY and pure happiness. 

When Ryan and I had a chance to talk in person after the doctor called on Tuesday he shared that Job immediately came to mind when he heard the news of FSHD.  Job experienced extreme physical suffering and still praised the Lord through it all. 

Late in the day on Tuesday I googled “the Lord giveth and the Lord taketh away” and that verse is Job 1:21. 

That was no coincidence…”The Lord gave me what I had, and the Lord as take it away.  Praise the name of the Lord.” –Job 1:21

Ryan and I spent some time on Tuesday sharing what we are thankful for in the midst of this bad news:  We are thankful for Ainsley’s love for others, her determined spirit, her sense of adventure and humor, her caring heart, and her laugh.  We are thankful she can see, hear, feel and show emotion, that she is not in pain and that she can run.  I’m also thankful for her loving daddy who would go to the ends of the earth to provide for her, her loving grandparents, her teachers who care for her as their own, her doctors who are observant, proactive and teach us along the way.  I’m also thankful for friends and family who support us as we are supporting Ainsley.

“You serve a glorious God, and even in the broken shards of life, He is worth everything we can offer to Him”.  –Angie Smith