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Rett Syndrome? It can't be.. Emma never had a regression... Her head circumference was normal.. she is just hypotonic and is a late bloomer.. She has words! No... it can't be Rett Syndrome..
No mutation detected... That is the news we got in January 2008... And with that we thought we were out of the woods..
In February 2008 Emmy had her first seizure and we knew something was seriously wrong. We asked to go to Children's Hospital Boston in search of what was wrong with our beautiful little girl.
After extensive metabolic and other neuromuscular testing and a 48 hour EEG we finally had an abnormal result. Her EEG showed abnormal brain spikes. Her neurologist told us he wanted tests for Prader Willi, Angelman Syndrome and Rett Syndrome. I knew in my heart it wasn't Prader Willi or Angelman but there was something about Rett I couldn't shake... She did continue hand mouthing. And that made me uneasy.
We got the results of the 2nd Rett Syndrome test on September 18, 2008 when Em was 29 months old.
"Mrs. Dalton, I am very sorry to have to tell you this but Emma has a deletion of exons 3 and 4. She does indeed have Rett Syndrome."
Although I had a rush of emotions it was from 18 months of not knowing what "IT" was. We were told we were reaching the fringes of what was known medically and that is really scary. Now "IT" had a name and it's name is Rett Syndrome.
That was 6 years ago... I will never forget that phone call or how I felt afterwards. 6 years ago I couldn't imagine where we would be today.. and yet today it is pretty amazing..
At 8 years old Em is in a typical third grade class .. She has friends who absolutely adore and look out for her.. They all rush to gather around her every morning with shouts of "Hi Emma!" and you can imagine their excitement when Em says a new word out loud, or when she throws beats them in a game of Connect Four or 21!.. To them, she is their friend..
Rett Syndrome isn't all happy times.. Instead of "soccer mom" I wear the hat of "Seizure mom".. I dream about the day Emmy will be able to skip into school with her friends and tell us how her day was in her own voice..
We look forward to finding a cure for all of the beautiful girls afflicted with Rett Syndrome. We will find it! Treatments and a cure are closer than ever.. Please help.
"Never let your head hang down. NEVER GIVE UP AND SIT DOWN AND GRIEVE. Find another way." - Satchel Paige