30 May 2017
Our beautiful girl, Keely, was born on the 22nd of March, 2015. She is our second born daughter. Her sister sister, Layla, is 14 months older.
We became concerned when Keely wasn't reaching her development milestones at 1 year old. At this age Keely would only lay or roll from side to side on the floor. She was a very stiff baby & also wouldn't make eye contact. Family & friends would comment that she was just lazy or shes just a bit slower then the rest. But as parents we knew there was something different.
Our paediatrician referred us for a blood test, to see a neurologist and to our local early intervention centre.
Keely's neurologist sent her for a MRI scan which showed her brain was all perfectly normal.
By this time her blood results had came back which showed there was a deletion in her chromosome 22q 13. The nuerogolist "googled" and found the rare chromosome disorder Phelan Mcdermid Syndrome. We were so confused by what these result meant for our baby girl.
From there we then waited 8 long months to see a geneticist which could explain her results. I spent hours and hours researching & trying to find any information i could. When we finally got to see him he explained that Keely has a terminal mosaic deletion which effects 60-65% of her cells. Her deletion size was 8.1Mb which also included other genes.
For our family it was relieving to finally have answers and an understanding of what we were to expect. We love our Keely Beely all the same. She's pure happiness with not a worry in the world. She isn't defined by her syndrome & we will always be her biggest supporters.
PMSF worldwide membership is for immediate family members and carers of children/adults diagnosed with Phelan-McDermid Syndrome.
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