For the past 20 months drs. have consistently tired test after test to help us find a reason, cause, diagnosis, as to why Aubreys muscle tone is so low. Seven months ago the geneticist tried the last test genetics has to offer. The test costs several thousand dollars & has only been conducted on a few kids in SC. The test is called x-nome sequencing and it reads all 24,000 or so genes that we have. The test looks at my genes, Davids, and Aubreys to find anything that may be abnormal. Scientists study and interpret the results thoroughly, which is why it takes 7 months to get results. Yesterday, we received the results and it shows that there is nothing genetic that could be causing Aubreys low muscle tone. It also showed the 56 cancer causing genes were all normal!! This is great!! Why? Well, the hardest part of learning about a genetic cause to a disorder is that it can effect future generations (Ashton & Adalynns children). So, this is a huge relief! Now, if the cause isnt genetic, then what is causing Aubreys muscles to be so severely weak? Her nerves are fine, the muscle biopsy showed the muscle has good fibers & structure. Could this be from an injury? We dont know 100% yet. Aubreys neurologist is the best! I feel confident that now genetics has been ruled out that he will look into even more possibilities. Please, please continue to pray for Aubrey. We choose not to put details of Aubreys daily fight on social media, bc we stay very focused on counting our blessings & letting the peace of God rule! Just know that daily prayers for her are deeply appreciated!!! Pray specifically for her strength, the fight with insurance to meet her medical needs, and for the costs of adapting a van to be made possible, so she can leave the house with her family. A side note...Im constantly researching grants to help us adapt a van for Aubrey. We may be able to qualify for one...Im waiting on a non-profit now to approve that they will co-sponsor the grant...pray, pray, pray that they will...this will cover $5,000 of the $18,000 it will cost for the adaption (doesnt include cost of the van). Thank you to all who follow Aubreys story, pray for her, and ask us about her. There is no greater feeling than having people out there who care about your children & love & support them!
Posted on: Wed, 23 Apr 2014 15:31:20 +0000
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