Most of you know Michelle has been diagnosed with Rett Syndrome. If your like me I had never heard of it . It is a very rare genetic disorder found in 1 in 10,000 girls . One of the more severe forms of autism spectrum disorder so not a lot is known about it . Michael and I have spent a good part of this year living in doctors office, 9 therapist working Monday thru Friday , and hospitals . I cant even describe the fear of the unknown. Originally Michelle was diagnosed with moderate autism in July 2013 . This is after going through a mri, eeg , and many blood tests . August we met with a neurologist and he ordered blood work . Sadly we had multiple blood tests drawn with one set being lost . Waiting on the results made mommy very anxious as we had to wait a month for them . August we made many trips to specialist in various areas . An ekg was performed and an abnormalilty popped up . So yet we had to have another tests ordered an echocardiogram. The pictures were not as clear as we hoped for but nothing major was seen . Ill never forget the phone call I recieved early one morning September 2 about 7:45 . It was Michelles neurologist . He stated he was sorry but Michelles blood work came back positive for Retts Syndrome. September 9 we met with genetics. We were still in shock . What was explained to us is that Michelle has a rare varient form of Rett syndrome. I left that doctors visit even more lost then I was before . Most of you know Michelle has very sleep issues so we just recently completed a 48 eeg at Cooks Children. It was one the harder things to be put through but Michelle is fighter. She kept that whole floor on their toes . We ruled out hopefully seizure activity and will know more at the end of this month with her sleep study . November 12 Michelle will have a lumbar puncture test done with sedation. This test will hopefully shine some light on treatment and progression. We are doing our best to stay on top of everything. Michelle is progressing better . With all the therapy she has learned how to feed herself again and talk your ear off . She is my sunshine and my everything . We are proud to say Michelles speech is at least 35 words and slowly trying to put them together. Those that know her see how she can light up a room with just her smile . Her laugh is contagious and one of the brightest almost 2 year olds Ive ever seen . Of course Im biased shes my little miracle. Thank you all for the thoughts and prayers keep them coming. Im sure this post isnt grammaticaly correct but its written with a heavy heart of a mom that loves her more than anything. Will keep yall posted . Love you .
Posted on: Sat, 19 Oct 2013 00:37:12 +0000
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