Help Our Family Get Skyla Better!

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3300 $ gesammelt des Spendenziels von 10 Tsd.

Help Our Family Get Skyla Better!

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As most of you know  Skyla is my little fighter, she's the baby of the family ,with an older brother and sister she likes to play with, but right now all my babies are hurting for their baby sister. Skyla whos not even three years old has not only a rare genetic condition, and all around global delays but just recently she got diagnosed with epilepsy! And she has been through nightmare after nightmare with this diagnosis, from meds not working to now its rapidly progressing. We are on our 5th extended stay at Hasbro after a two week period of constant lethargy, not eating and not being her happy energetic self. If these last rounds of meds cant help her she could just get worse, but they cant find any other reason for her current symptoms. So in order to do the testing we all want for her, including her genetic testing we'll have to pay most of it since her insurance doesnt want to cover such complex tests while her other workups are "fine". So please even if you cant donate, just pray for my litte fighter.

**(Her genetic condition is a "female genotype wigh heterozygous gain of 113 kb at Xq21.1 of uncertian significance" the locus involves a partial dublication of the BRWD3 gene, which is associated with X-linked mental retardation)**

If you can donate just know skylas wholee family thanks you.

Organisator

Samantha Nicole Guadagni
Organisator
Lincoln, RI

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