Megan’s Journey

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megan (39)Megan was born on June 9th. Since around Christmas time we’ve 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’s on medication for the Epilepsy now and we will be starting therapy to help her muscle tone to address her issues with walking and fine and gross motor function.

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While starting therapy they noticed she has sensory processing disorder as well as vestibular seeking behavior. I’m in shock because anyone who knows Megan knows that she was a healthy child up until recently. The neurologist is waiting to see if she responds to therapy. If she does not then we will begin the path for a genetic diagnosis for the issues. Thankfully she is responding to the medication for the seizures and she enjoys her therapy sessions.

megan (142)About

She is in LOVE with Minnie Mouse. She loves PINK and BLUE. Minnie Mouse, and BOWS, she loves BOWS the kind of bow on Minnie Mouse’s head. She wants a pink Minnie Mouse car with a bow on top when she grows up. She also loves Herbies.

Megan’s Mom Deena

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48 Hour EEG

Megan was recently tested for JHD. Her test result came back inconclusive as the test can only detect expansions less than 100. Since she is currently symptomatic, an additional test that can detect CAG counts above 100 is going to be performed Right now she is clinically, but unofficially diagnosed with JHD. 100 is a high jhd CAG count. She is now officially JHD Positive according to the new test. Megan was a sweet 4 year old little girl at this time.

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August 5, 2019 Tonight is a tough night mentally for me. Lots of struggle and worries for Megan. I 'saw' her disease tonight. Often times I only see Megan, not JHD. But I saw JHD tonight and I can't unsee it. It breaks my heart. I saw the eyes darting off up and to the right instead of making contact with me. I felt the rigid arms and muscles not within her control. I felt and saw the spine and ribs sticking out, clearly visible through her skin. I saw the curled up feet. I saw the struggle as she can't even pull herself across her own bed to lay down for the night. I didn't see my girl, I saw JHD. It's something I didn't want to ever see.





5 Replies to “Megan’s Journey”

  1. Your daughter is beautiful! I wish I could speak with you and ask questions about your journey. My son was 4 1/2 when he passed from what doctors believe was jhd. I am praying for you and yours.

  2. If this is not Juvenile Huntingtons Disease,it sounds like intractable epilepsy and may need
    Cannabidiol to control symptoms of either Dravet or Lennox Gustalt Syndrome
    I have been around all forms of epilepsy since I was eleven.
    My spouse has had epilepsy since the age of fifteen months and when he was a child,
    he had to take five different anticonvulsant drugs to control his epilepsy,so I figured
    knowledge is power,and fear is totally useless as a reaction,so I went to my local hospital
    medical library to learn all I could about all the forms of epilepsy.

    1. She was diagnosed positive for juvenile huntingtons disease sadly seizures are part of jhd all different versions because of the way it affects the brain

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