Discovering I have FSH Muscular Dystrophy
Updated: Oct 20
And discovering my resilience and strength through my diagnosis.
For a long time I have been thinking about this post, about my story. My journey to being diagnosed has pain and trauma attached to it so I've never really felt comfortable sharing. But I think sharing your pain, your deepest and darkest can be very liberating. Also I haven't seen my counselor since February I'm going to use this as a form of therapy.
Now I started by saying that my diagnosis is attached to pain and trauma but it also was a moment in my life where I finally felt like I had answers. I had answer to the constant back pain, to the drooped shoulder that never quite repaired itself and to just being generally less toned and coordinated even when I was working my ass off in the gym.
What is FSHD (Facioscapulohumeral muscular dystrophy (FSH or FSHD))
I will just lift right from Muscular Dystrophy Canada:
"FSHD an inherited muscle disorder that causes progressive breakdown of muscle fibres, resulting in muscle atrophy and weakness. FSHD is the third most common muscular dystrophy worldwide, after Duchenne muscular dystrophy and myotonic dystrophy, affecting approximately 1 in 20,000 individuals. FSHD is a genetic flaw (mutation) that leads to inappropriate expression of the double homeobox protein 4 gene (DUX4) on chromosome 4, in the 4q35 region.6. The segment is not part of any particular gene, but it nevertheless seems to interfere with the correct processing of genetic material.
Symptoms typically begin in teenage years, predominantly affecting the face (facio), shoulder blades (scapular), upper arm (humeral), and legs. There are currently no treatments to slow down, stop, or reverse the symptoms of FSHD."
TW: Surgery and healing description
My first symptoms started when I was about 15, I was having severe back pain, specifically around my shoulders. I also had very large breasts for my age, which was common on my Mom's side, so we thought that could be the issue and I underwent breast reduction surgery at the age of 16. I had complications post operation because of the elasticity of my skin. The surgeon compared it to a 60 year old's. Just what every 16 year old wants to hear, right. My skin was super thin and ended up ripping at the stitches that formed the anchor shape incisions. This caused me to go through months of wound care, where "miraculously" my skin started to spore and make new skin, filling in the large triangle shape on of the lower half of my breast that was open.
I had to miss a semester of high school because of my poor healing. I can say that this is one of the times in my life that I prayed the most. Everyday of the four months that I went for wound care I prayed and cried and asked to be healed. I say miraculous because that is what my surgeon called it when I didn't need a skin graft. He compared my healing to that of a burn victim and nothing he had ever heard or seen of before.
Because I didn't need a skin graft I felt lucky. I felt the power of prayer in my life. One other miracle that I got out of all of this is my dog Roxanne. Now that may seem like an overstatement but she is my little angel. She helped bring me out of a depression and gave me something to think of outside of daily nurse appointments. After the months of healing I remember finally being able to go back to school. A lovely rumor was started while I was gone that I had cancer and that's why I wasn't in school and returned back thinner than when I left. Isn't high school so much fun.
Even after my surgery and the "weight being lifted" from my chest I still had back pain. I regularly went to a chiropractor and a massage therapist with very little relief. I was told by professionals that it likely was due to "bad posture" from having such large breasts for so long. I bet you are thinking now, "say breasts again" (mean girls reference). BREASTS. No one could give me any real answers but at least my breasts were smaller.
Now we'll skip ahead and I'll bring you to my early 20's. I was working through my first year of college as a custodian at large office and I started having severe pain in my right shoulder. My shoulder had completely dropped and I was icing and heating it every day at work. I was going for massage, laser and physio therapy and acupuncture and nothing was working. My boss saw me icing it in the cafeteria at work and she told me to take a week off to get some answers. During that week I had ultrasounds and other tests done and nothing was conclusive. My doctor at the time said she didn't know what it could be. That answer simply wasn't enough for me. I didn't want to live with this pain for the rest of my life, I was 23! But in her mind if it wasn't a sport or trauma injury she couldn't explain it. Luckily I found an osteopath who was also a massage therapist and he changed my life and body. Through his therapy I finally was regaining strength back in my shoulder and I was starting to see them balance out again. I also could go about 2-3 weeks post therapy without intense pain, which was pretty good for me.
During this time I had met my future husband, Josh. He was great about understanding my pain cycles. That's not to say he didn't have a lot of growing and learning to do but we were doing it together. We had been dating for two years when my mom told me that she had MD. There was a lot of drama surrounding the way she told me. During her diagnosis waiting time she decided that she should tell us, without confirmation. I should note that it takes about five to six months to receive the results as a non-emergent adult. My mom had always suffered with her mental health, I say suffered because it was suffering for her and us, and at this time I was the only one of my siblings that was actually somewhat talking with her. All she would tell me is that she "needed to talk" and it was very serious related to her health. I thought she had cancer or was dying because of her approach to it. In her mind that was what MD was, a death sentence. When I went to see her I actually brought Josh, this was only the second interaction that he had with my Mom in the two years that I had been dating him.
Afterwards he asked me if he could never have to see my mom again. Sadly I understood why. I understood that he didn't want to see my heart break again because of her words. Because of her carelessness, Because of her callousness. It was a battle I had long fought that I couldn't anymore. And I agreed.
My mom's family had a history of MD. Her mom, sister and brother had more severe cases of it. My uncle was hospitalized as a young adult and needed a permanent Tracheostomy so he could breathe. But my mom, being quite athletic as a child and teen was told she did not have it. Back then there was no genetic testing. They could only use general strength testing. It was because of being told that she did not have MD from a child that she took this late diagnosis particularly hard. She "wished it was cancer" and that "she didn't have kids" because of "giving it to us". Obviously words that cut deep and still do. I can feel the scars as I write this with tears coming down my cheeks. Please know that I am not trying to paint my mom as a monster but I also won't hide the part of her that destroyed.
I waited six months for my blood results to come back. It felt like forever. I remember calling my doctor because I hadn't heard back from them and the receptionist refused to share results over the phone. They said "no news was good news" and they did receive my results. If the doctor didn't call me then it must mean good news. I decided to make an appointment regardless because I was still having pain that could relate to MD or some other muscular issue.
When I went in my doctor asked me why I was there and I told her it was to discuss my negative diagnosis. She couldn't remember what I was talking about so she looked up my file. When she reread my diagnosis out loud to me it contradicted everything the receptionist told me. It said I was a carrier and had the genetic markers for FSHD. She had misread the report, because she didn't fully understand the results and therefor never called me to tell me. After raising my voice at her and being very confused, she told she would refer to me a neuro-muscular specialist and they would explain more. I left the appointment and went straight home. Luckily my dad was there, taking a vacation day to fix up the house. I got out of the car and cried in his arms. I cried for knowing and I cried for all the things I didn't know. Another complete fuck up. Another reason for my mom to wish she didn't have me. Another fucking medical mess.
I scoured the internet for answers and message boards. Finally finding one for young people with MD and another one for people with mom's who have mental health related issues. I found what felt like my people. These people understood my pain and told me it was going to be ok. They had survived and so would I. It was with this secret community that I was able to go into my first specialist appointment with a list of questions, being determined to get real answers.
During my appointment I underwent an exam and strength testing where I found out I was actually stronger at the time than an average woman. They had a genetic counselor in-house who I was able to talk to about the possible challenges I would face if I had children in the future. Put into the most simple terms, if I decided to have my own genetic children I would be flipping a coin, it would be a 50-50 chance of passing on FSHD. This appointment and my new doctor gave me hope. Although FSHD is currently incurable, I finally had hope.
See I didn't take this diagnosis as a death sentence. I took it as a life sentence in a positive way. I took it as a chance to stop hating my body and start living. If it was moving, then it was beautiful and strong and fighting. This doesn't mean I don't have insecurities, of course I do. And it doesn't mean that I don't hate it when it hurts to do something or takes a lot more effort. But it does mean that I have learned to appreciate more what a body can do, rather than what it looks like and isn't that such a beautiful thing.
The reason why I post so many photos of my back because it is one of my insecurities, the folds and bones sticking out and it is also a source of pain for me. By posting photos of my back I can reclaim FSHD and how it affects me. Also I don't have to show my messy bangs and sweaty face when I'm hiking in my photos.