Saturday, January 4

Disney World or bust!

Today we are heading to Disney World!  Ryan and I made a promise to each other in early summer before we took Ainsley to Mayo that if we received bad news about her health we would take her to Disney this year.  After her genetic test in November, I called my dad (before we got the results) and said I think we should go to Disney soon.  If we got good or bad news we wanted to celebrate family and Ainsley.  So today we will go!  We will go and show our sweet girl a FUN time!  Thanks dad for making this possible and for our neighbors for keeping a good eye on our house in this cold weather while we are away!
On New Years Day we received a report about Ainsley's second genetic test--it was released to us via an on line medical record system (My Chart).  It had the interpretation, but we didn't understand it.  It seemed positive--one of the findings was no deletion of her 4q35 chromosome.  I called the neuromuscular nurse on Thursday and she went over the results with me and said that A is missing a whole section of 4q35 which is one indicator of this type of muscular dystrophy (she said the test likely duplicated the complete section).  The second factor to confirm this is determining if she is missing the pieces on A or B.  That is what this test was to determine...and she said these results were not definitive to her either.  She said two other families were receiving similar results for there little ones and one of the moms found a researcher in Washington State that is providing more clear results for families when the results are unclear (even after this second test).  I let the nurse know we were interested in working with this genetic researcher.  If we get the all clear to work with him to learn more about Ainsley's potential MD, I plan to write him a letter thanking him for his diligent work in helping us to find some answers.  It is all we can do at this point to keep moving us closer to answers and solutions.  
The nurse said that she would ask Ainsley's neuromuscular doctor to call us to explain these second results when she returns from vacation--most likely on Monday.  So we'll get the news at Disney as we are celebrating life and our sweet (and adventurous) girl!  She was prepping to jump off her bed in this photo!

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