Some answers

We are getting closer to finding an answer to Maddie's disorder. We received a phone call last night from Dr. C about Maddie's GeneDX results that was taken back in mid-September. They did find a mutation in one of her genes that may potentially be the cause of her epileptic encephalopathy, cognitive impairments and developmental delays. Both neurologists, Drs C & T stated that Maddie fit the clinical features of the gene mutation per what they know and what they have read on this particular gene. The gene PCDH19 (protocadherin 19) is on the X chromosome Xq22.1 and researchers have linked in with EFMR (epileptic female-restricted with mental retardation) in women also known as EIEE9 (epileptic encephalopathy early infantile type 9). They are not sure if this is the cause of her condition or if there is another underlying cause but her tests results showed that there is a mutation on this gene. The gene has a wide spectrum in females and Maddie may have had the more severe type. The Gene can be inherited from either the mother or father but can also just happen on its own. It was discovered in 2008 and not much literature is out there only that it affects females and is very rare. More information can be found at the following link:
http://www.nhs.uk/news/2008/05May/Pages/Genemutationinrareformofepilepsy.aspx and http://ghr.nlm.nih.gov/gene/PCDH19 . Chris and I will possibly be working with a geneticist to see if one of us is a carrier and if this will be something that may happen again in future generations to come. No matter what our sweet girl had we would given anything to have her not suffer the seizures and other disabilities that limited her life so much here on earth. We miss her so much and not a moment goes by that we don't wish to have our girl to hug, kiss and love on...however she and all of us are part of a bigger plan of God's.