Adriana’s Genetic Testing

Adriana aka Tooty is undergoing genetic testing, she has already had some done but we have recieved no answers her genetic doctor said she would like tooty to undergo a test called Chromosome Sequence test and some other testing however upon submitting the request to the insurance they let us know that it was not covered the test is $8,000 and at this moment we cannot financially afford it, as my husband tootys dad is the only one who works I not only serve as her mom but also her nurse as she is unable to attend daycare due to a g button (feeding tube). Let me give you a bit more to the story tooty was born healthy everything with her birth went great however at her 6 month check up her pediatrician noticed her head circumference had not increased from the previous appointment he then ordered a CT scan in which he found abnormalities in the brain he said she had microcephaly . He then sent us to a neurologist who ordered an MRI unfortunately because of insurance issues the MRI had to be reschedule from July 2018 to November 2018. On August 1st I decided to take tooty to her pediatrician because we had noticed some trembling and her legs had gotten extremely stiff he said he would refer us to Scottish rite Hospital for a medication called baclofen which would relive the stiffness and the trembling in her body, the reason she was both trembling and stiff was because the spasticity and tone in her body had increased dramatically. We waited to hear from Scottish Rite and other neurologists when I finally heard back from a neurologist he let me know that she would need a pump dispensing the baclofen to her body however our insurance did not cover the pump so we where left to gather all the money possible. On August 5th we rushed to Cook Children’s ER because her lips where dry, she wouldn’t eat (she normally doesn’t eat solids because she has major food adversions so she mostly drank breast milk) she was having a poor urine output and she was trembling immensely. Within being there for a day she received the meds she needed she also had surgery for a g button on August 9th (feeding tube in her tummy) and an MRI. In the MRI the neurologist saw that she has a very thin layer of white matter which is supposed to be thick he also noticed she has a hard time breaking down enzymes and fats. We where then referred to a metabolic geneticist who ran as many possible test as the insurance would pay  for, once we recived the results for those test we where told that nothing abnormal was found besides the fact that she’s microchepalic which we knew already. She let us know about the sequence chromosome test and sent in approval to the insurance the insurance didn’t even think twice and rejected the testing. Which brings us to gofund me! Any donations and prayers are accepted we appreciate it from the bottom of our hearts we ultimately just want an answers as to what happened and how can we help our daughter and we want to educate ourselfs in her condition so we can better go through this journey. She is the most happiest baby and know she would absolutely appreciate anything and everything given!  Thank y’all so much


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Marisol Oliver 
Valley View, TX
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