Megan was born on June 9, 2011. 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.
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.
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
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.
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.
August 31, 2019 Hi everyone. I have no words for how I feel right now. Megan did her upper GI and we ran a battery of blood work on her to make sure everything is okay. Her bloodwork looks good except for some low numbers, which indicate that she's malnourished. Like I said before, we're struggling so hard to help her eat full meals. Her GI exam was fine, everything was working as they expected. However, she will only poop if she has a daily ExLax given and suppository. So we're having to help her muscles go poop for her, she cannot do it on her own. So that is our new normal now. Another finding is that she has curvature in her back, so she has scoliosis now. Anyone else JHD child have this as well? Did they end up putting them in a back brace? I feel like a complete failure. Her favorite shake is Scanishake but she barely drinks and ounce at a time and we have to throw it out. So I've started only making small amounts and mixing in just a spoonful for flavor but it make take us a week to go through one packet which is supposed to be ONE SERVING! At this point I"m giving her anything and everything she wants, but she still cannot consume too much at any given time. I was recommended to schedule her feeding times and not let her graze all day. I"m so scared to do this as I don't want to deprive her but the Dr things that perhaps this will help with her getting more hungry and then eating more at one sitting? She cries though she's hungry, but then you give her a snack, she eats a little bit and is done. Also, she's on a med to help stimulate her appetite. So while she's hungry almost 24/7 now, it still doesn't help her eat MORE, it just increases how often she asks to eat............. She's so thin and it takes everything in her body to try and work her iPad. She's declined sooooo soooo much. The GI doctor did discuss a feeding tube with us if everything checked out fine. However, I don't think I can. I absolutely hate this disease. She's so precious, she doesn't deserve this. I don't know what else I can do.
Oct 23, 2019 Ouch 😭😢 Megan had a short dystonia attack in both arms tonight 😭😭😭. She’s such a trooper. She was unable to move her arms completely and it was very painful