My journey from “mushy muscles” to misdiagnosis

Posted December 10, 2020

a selfie of andrea in a car

I was born in the ’70s… My parents were told I was born with “mushy muscles”. I didn’t walk until I was 20 months old, but I managed and I was cute. I was the firstborn on both sides of the family, so no other babies to compare to, though little things bothered my young mom, she knew something wasn’t right, but listened to the doctors and trusted them. 

I was clumsy and had extremely flat feet. That was the one thing that did help with, they prescribed special shoes for me, and now I have a beautiful arch to my feet. My first memory of something being wrong was when I ran my ankles had extreme sharp pain all the time, either that or they just gave out and rolled to the sides! It hurt when I had a bowel movement, due to not going #2 for weeks on end. Sleep did NOT come easy for me ever since I could remember, it took me between 45 mins to 2 hours to fall asleep. I did do ballet and was told I was very good at it, from 5 to 15 years old, I also downhill skied in northern Michigan nearly every day from 14 to 16 years old. 

But in gym class, I couldn’t run “that mile”. I tried but as soon as those sharp pains in my ribs would flare up it stopped me in my tracks… I’d walk the rest of the mile. Gym teachers and students would ridicule me because I’d hold up the rest of the class. In the meantime, I was a high energy kid and was diagnosed in my preteens with ADHD. My dad refused meds for me, insisting I was a smart kid and didn’t need them. My nose was constantly congested, I could never breathe out of my nose, at least until in my 20’s. 

POTS symptoms started in my late teens, but of course, I have no clue what it was. When I would get out of the shower I’d have to either sit on the side of the tub or lay in my bed for 10-20 minutes. I would “forget to breathe” and gasp for air. I always had low blood pressure and a low resting pulse. I tried to get help for pain in my knees and hips but x-rays never showed anything and I was told I’m too young to feel pain in these joints. So I gave up and gave in to the doctors. Any other issues I’ve had I just dealt with it. 

I stopped seeking help and trucked through the pain and swelling with ibuprofen… Fast forward to my last 30’s and after the birth of my third child, I started getting these weird headaches, in the back of my head. My neck was always sore and eventually moved to my shoulders. It was not until the ringing in my ears and losing my hearing that I started bringing these issues to my PCP who referred me to an ENT doc. It took him 4 office visits to order an MRI (my first at 37 years old) only because as he was walking out to see his next patient I blurted out symptoms that didn’t pertain to seeing an ENT. 

He turned around and then started listening. I told him, I can’t find words at the end of my sentences, I have these headaches, I get dizzy when I drive long distances, and I forget things very easily. I’m not sure what came over me but I spoke up and felt this fear that this was my last shot at help. My MRI showed a herniated cerebellum of 7mm and told me to find a neurologist or a neurosurgeon ASAP. Luckily my husband works for a large health care system and asked around his IT people who would be the best. 

Dr. Gilmer came up and she was close to our city. My appointment was within a month and surgery was a month after. On October 5, 2016, I was decompressed. When I woke up from surgery all my pain was gone (besides surgery pain) and I could hear clearly again. The extreme ringing in my ears was gone. Dr. Gilmer referred me to a genetic doctor to be evaluated for EDS (this appointment was 8 months out) but my son got into a cardiologist and genetic doctor sooner because he was a minor. 

He looked like classic Marfans; underweight, arachnodactyly, pigeon-chested, chest pains, and so much more.. but luckily he got treated. Aortic root dilation and partial collapse lung soon after. About six months after being decompressed my pain started again. Different pain, headaches were different than before, my neck hurt a lot worse, I had fatigue and anxiety, I started leaking CSF out of my nose… I was laughed at by my ER nurses and they refused to test the clear fluids pouring out of my nose. 

I had a diagnosis now: Chiari and possibly classical EDS cEDS (which was misdiagnosed). I’d lay in bed sad that no one would help me.. my MRI showed my Chiari was still good and didn’t go back. Ridiculed by medical professionals was too much to go through again. My pain management doctor wrote me off after one blood patch and an occipital nerve block. Defeated again. 

Three years after my decompression I got in to see Dr. Henderson within two months of calling his office. I did the tests he wanted, CT scan rotation & upright MRI with flexion and extension. When he walked into the room I was waiting in, so much validation came. He spent over an hour with me talking about how bad my AAI is with CCI being borderline. He diagnosed me with hEDS, MCAD, TMJ, and Cervicomedullary syndrome. Surgery was the only option due to how severe my AAI was. December 11 2019 I was fused C0-C2. My pressure headaches and CSF leaks were completely gone! Yeaaa! 

Now I’m being looked at for possible occult tethered cord.. let’s go back to when I was a kid; I had accidents while sleeping until 8-9 years old, also have a sacral dimple. So here I am in 2020 at nearly 43 years old, I’m back in bed but not the same pain, different pain. 

COVID-19 pushed back my treatment for a possible occult tethered cord, so for now I am just waiting.

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