The video explains a little about CMT4J. It’s very short. I encourage you to watch it before you read this post. It will make more sense. I am absolutely NOT asking for fundraising. This is just for education.
So I was officially diagnosed with CMT4J last summer, although we had talked about it the summer of 2018 when a significant pathology came up on my genetic test. My neurologist wanted to watch my progress.
I’ve been very public about my stem cell progress via Facebook due to knowing many people via the internet who have mysterious inflammatory diseases, but the neurological community has been sending me questions in droves.
I am happy to answer as my neurological progress has been astounding despite my Epstein-Barr virus being sent into an explosion that has left me shivering and flu like most of the day for 10 days now. I at least enjoy questions coming from around the world as it distracts a body that is making fascinating changes, but is also extremely hard to manage living in.
So as far as connecting my medical dots, I clearly have many problems with my body with many diseases with names. Something that has troubled me is a lifetime of neurological problems.
I didn’t walk until after 2. I did walk on my knees strangely and as you will see I am proudly holding up my baby shoes (well looking up the size, they would be for an average 3 year old) that I now proudly show the scuffed toes and there is no wear on the bottoms. My mother used it as an excuse to call me “willful” and my difficulty made me “evil” even as a baby as I wouldn’t just get up and walk like a normal kid. I insisted on walking on my knees she said. It used to make me sad that I was so lazy that I wouldn’t even get up and walk.
Now I know a hallmark of CMT is walking late and being creative to find ways to get around. Apparently, I could practically run on my knees. I guess I could stand, but my method of locomotion was on my knees!
I could never run. I was the proverbial last pick for sports in gym class as I wasn’t fast. We had to run a mile every Friday of middle school. I would start running for about 30 seconds and then just couldn’t. I would have to walk my mile. I still remember the PE teachers name. She would chastise me for going over the bell time making me late to my next class as I had to shower too. I didn’t know what was happening. I just knew if I ran, my legs hurt really bad.
In my 20s, I developed weakness. One neurologist took a brain MRI that was clear and said I didn’t have MS and my trouble breathing was anxiety, so go talk to a psychiatrist. Not being able to run and issues breathing are very particular to CMT4J.
The next neurologist I went to a year later as things seemed to progress, not get better said, “it’s like you have the symptoms of ALS”. I had nothing diagnostic to prove it though, so my weak, often numb limbs stumbled out of the office with another psychiatry referral. If you watch the short video of CMT4J being similar to ALS.
A small segment of the CMT4J community found me! I understand so much more. Hard to understand a disease that only 31 people in the world have been identified as having!
I wasn’t depressed. I was looking forward to a good future no matter how horrible my past. I was working hard on my trauma with a dedicated therapist and generally doing the best I could to hide how clumsy I was and luckily fell over a lot just in private as I didn’t want anyone to know how “crazy” I had become as that’s all doctors would say.
I believe my primary care at the time sent me to a cardiologist as I told her I was falling over a lot. I got subjected to the treadmill test. Within 30 seconds of them having me running, I was begging them to stop the treadmill. They were stern my vitals were fine. I had a mask over my face, but I just remember trying to get out, “please, it’s my legs, they are going to give out, just please, I’m going to fall”. I finally ended up yelling stop, so they hit the emergency stop switch and collapse I did.
I took the cardiologists perplexity at looking at this young 20 something woman who could hike 10 miles in a day, was very athletic and fit, crumpled on the floor not understanding why my legs wouldn’t work, as disdain and anger at me. I felt like I had failed the test and couldn’t take being called crazy again. He probably made a follow up appointment, but I was so used to medical neglect, I gave up.
At the same time I had a festering virus called Epstein-Barr rearing it’s ugly head since 17 that I know of. 95% of the world’s population will test positive for it. A few people might get mono as we call it in the US or glandular fever in other countries. It is considered extremely rare when it continues to activate over and over. The biggest symptom of another activation is debilitating fatigue.
Towards the end of my 14 year relationship my partner would constantly get angry at me for sleeping all the time. I got called depressed. No matter how many times I said I felt ok emotionally, I just couldn’t seem to stay awake and didn’t know why. It was a huge source of contention. I couldn’t explain it and just kept trying psych mec after psych med that never cured my “depression”. I know what depression sleep is. It’s often anxiety ridden and about isolation and avoiding life. In the moments I was awake, I was excited about the upcoming adoption of our son and was making goals and dreams and doing lots of writing and reading as I could.
After it was clear I wasn’t going to get up (I really wished I could, trust me), I was asked to leave and seeing as we weren’t married, there were no vows of “in sickness or health”. I didn’t even think to try to go to a doctor to figure it out. The internet was still in its infancy and Dr Google didn’t really exist. My partner just assumed I was depressed, which was fueling my “laziness”.
Despite the fact that I needed that relationship to end, especially as I see so many wonderful relationships where a partner doesn’t feel well, so the other steps in to help or be a medical advocate, I got a lof complaints about the house not being clean enough or dinner not being quite as fancy and not putting enough time into the baby. Perhaps someday that ex will understand my circumstances and realize I was trying my hardest in a body that didn’t make sense to me. If not, that’s ok too. I know my truth now, and I knew it on some level then.
So as I make so many neurological gains (I used to say I walked like a drunk unassisted. Now I say I walk like a baby duck), for me it’s an exciting time of firsts I never thought would happen. I may always have to use my wheelchair in public, but it sure is wonderful to walk around my house in a manner that doesn’t aggravate my arthritic back so much. And it’s really great to feel my hands again.
So I hold my scuffed baby shoes up with pride at knowing I wasn’t being a “willful” toddler or being lazy in depression as an adult as I hold these shoes, I might be going into a shivering episode, but I hold them with pride and hope that many of my nasty diseases will be eradicated and will go on to achieve some of my life’s goals as being sleeping beauty has not been one of them. I don’t need anyone to rescue me. I’m doing that just fine on my own with plenty who walk beside me.
In the meantime, I’m hopeful I can be a source of light for the sick and hoping, wishing, and praying that my magical stem cells will either significantly help or eradicate my CMT4J. I found out I’m the 31st person in the world to be identified with this variant and even though the video shows a valiant effort is being made to fundraise to get a clinical trial, I would personally love for people to spend relatively very little to just be injected with some umbilical cord tissue.
As for Christmas, it kind of sucked. My family doesn’t believe I’m sick. I just got a lecture that I hadn’t called in 8 days and “must be nice to be having fun with my friends while I forget I even have family”. I reminded him I sent a couple texts and hadn’t called anyone as I was very sick with a reminder that I just had a pretty major medical procedure on the cutting edge of medical science. No questions asked about that part, just guilt guilt guilt. I could hear my sister in the background who absolutely doesn’t believe I have any illnesses and basically told me to “get over it. Stop doing this for attention, and get a job and act like an adult”. So my loving heart wanted to say “merry Christmas”. My new heart surrounded by boundaries decided I couldn’t take this craziness and got off the phone with a little more guilt thrown at me.
Oh well? Some people get incredible families. Some people get so so families. Some of us get families that 1500 miles of distance often doesn’t feel like enough.
I’m honestly grateful to finally be medically validated and as the year closes, I am reflecting on a lifetime of people who have believed in me. They aren’t family. I may never see many of them again, but I can hold in my heart the gifts they gave me to maintain my peace, contentment, and even some appropriate sadness over a lot of time lost.