9 Year Old Angel
Megan was born on June 9, 2011-Dec 4, 2020. Since around Christmas time we noticed many abnormal behaviors, movements and other things in Megan. She started changing the way she walks, falls often and more. We started seeing seizures and began a process of investigation to find out why. Her EEG came back abnormal with continuous spike waves from the right side (meaning it never stops awake or asleep), she was diagnosed with hypotonia (low muscle tone), and her MRI came back abnormal with diffuse subcortical delayed myelination.. She was on medication for the Epilepsy now and started therapy to help her muscle tone to address her issues with walking and fine and gross motor function.
While starting therapy they noticed she has sensory processing disorder as well as vestibular seeking behavior. I’m in shock because anyone who knew Megan knows that she was a healthy child up until recently. The neurologist is waiting to see if she responds to therapy. If she did not then we begin the path for a genetic diagnosis for the issues. Thankfully she responded to the medication for the seizures and she enjoyed her therapy sessions.
She was in LOVE with Minnie Mouse. She loved PINK and BLUE. Minnie Mouse, and BOWS, she loved BOWS the kind of bow on Minnie Mouse’s head. She wanted a pink Minnie Mouse car with a bow on top when she grows up. She also loved Herbies.
–Megan’s Mom Deena
Megan was recently tested for JHD. Her test result came back inconclusive as the test can only detect expansions less than 100. Since she was symptomatic, an additional test that can detect CAG counts above 100 is going to be performed She was clinically, but unofficially diagnosed with JHD. 100 is a high jhd CAG count. She was officially JHD Positive according to the new test. Megan was a sweet 4 year old little girl at this time.