It was November of 1993 when my first son, Alex, was born. He was diagnosed with Myotubular Myopathy (MTM). In meeting with the geneticist, I was told that I was “just” a carrier and would never have symptoms. I thought to myself, “Huh, I think I do have symptoms”, but I pushed that aside as my only interest was in helping my son live the longest and best life he could.
A few months later, while Alex was still in the NICU, I discovered that I was already pregnant again! Slightly over one year later, Levi was born with MTM. Life was busy to say the least and I was consumed with keeping their airways patent, keeping them well and taking care of all of their needs. My focus was on them, keeping them alive and helping them to live as normal and fun of a life as possible. It became very apparent after only 3 years, that if I didn’t take care of myself, the stress was going to kill me and the boys would ultimately suffer. I began to focus on caring for myself as well.
Fast forward to 2012 and Alex was graduating from high school! Quite a feat since neither of the boys was supposed to live past birth. Finding a college that could deal with his physical and medical limitations but accept that he was brilliant was a bit of a challenge. Then, in 2013, Levi was graduating and the college process started again.
It was that year, 2013, that the MTM family conference was held in Bloomington, MN, very near to where we were living. Researchers on MTM were at the conference and they suggested to me that I might be a manifesting carrier and that I should participate in their study. I was shocked. I had learned to just deal with all of my issues, assuming I was just an unlucky person with lots of strange ailments. After being told initially that I would never have any symptoms because I was just a carrier, I had let that all go and moved on with doing what I could with nutrition, supplements, exercise, etc. to help myself. Now, here I was, having to face the possibility that I was suffering from something un-fixable. I was horrified. I didn’t have time to get sick; I needed to take care of my kids.
I reluctantly agreed to participate, knowing in the back of my mind that I was a manifesting carrier.
The results confirmed that I was manifesting. In one way, I was relieved to know why I had so many strange issues, but in another, I was disheartened and frustrated that there was no way to fix my problems and that I would be getting worse. Again, I was told something that didn’t hold true: that I wouldn’t ever be as sick as my sons were and that I would only have some symptoms. That, as of 2018, became glaringly apparent to be untrue as well.
In 2019, the MTM family conference was geared somewhat toward manifesting carriers. Due to the trouble I was having walking and strange changes with my breathing, I attended to see what all I could learn to help myself. I was shocked to see some of the other women who were greatly affected and to find out that manifesting carriers could end up in wheelchairs and on ventilators. I knew I wasn’t far off from either.
I have been successfully avoiding a wheelchair since about 2015. I have had difficulty walking, rising from chairs without arms, getting in and out of a vehicle, climbing steps, etc. I have had breathing issues since about 2018 and just recently needed to go on a ventilator at night because I came close to dying. I am too tough for my own good and don’t realize my need for things until I am very far past where I should have received help. I have had both of my hips replaced due to being born with shallow hip sockets (which they didn’t recognize as a sign of MTM at birth) and am now headed to double knee replacements. I am at least relieved that I didn’t fall apart this badly before my sons passed away, Levi in 2019, Alex in 2021. I truly don’t know how I could have managed caring for them in the pain and dysfunction I am now in.
The hardest part about being a manifesting carrier is I don’t think it’s accurate. I think we just have the disease, and so do some of the scientists. Unfortunately, so many doctors don’t understand what that means or how to help us. There isn’t much literature out there. From all the wrong suppositions of the past that I was told about myself, I have to say, I wish they would just label us with the disease so we can get the proper care and treatment we need. I have watched other women with MTM fight to get a ventilator, so I knew what my battle was going to be. I was prepared for when I would need to do it, but it snuck up on me. Thankfully, I have a wonderful doctor who believes me and fought for me. I got my ventilator in the nick of time!