Sophia-Bell's Genetic Testing

Our sweet 3 year old Sophie experienced her first seizure at 8 months old. She has had multiple tests done in her life including:MRI's, EEG's, EMU's and blood work every 6 weeks. Her Neurologist was finally able to view a seizure on her EEG and give her a diagnosis of Epilepsy in January of this year. She has been on medication to control her seizures since she was one year old.

This year Sophie has been displaying symptoms that can not all be linked to her Epilepsy. These include: loss of depth perception, loss of the use of her hands, seeing and feeling what she calls "spiders" in her eyes and Stroke like symptoms. As a parent it just breaks your heart to watch your baby suffer.

Her Neurologist ordered Genetic testing to be done and we waited and got approval from our insurance company. A month after her blood work for the test, we found out that her test is not covered. We filed an appeal with our insurance and it was denied. This is why I am reaching out here. The cost of the test is $1630.00 dollars and I am hoping to raise as much of the money as possible to pay for Sophie's testing. For everyone's information the tests that have been ordered are: MECP2

Duplication/Deletion Test (RTT)

And CDKL5 Duplication/Deletion Test. The Lab that is handling it is Athena Diagnostics and the condition they are looking for is called Rett Syndrome.

Thank you for reading just a piece of Sophie's story. Thank you for all your prayers, your love and your support. She is a bright beautiful light and we are so truly blessed to have her. God Bless!


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Lisa Conely 
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