Living with the mystery of dermatomyositis

“I first noticed that my nail folds were reddish and shiny in summer 2014 but I didn’t really think much of it,” recalls Eva, 39, from the Czech Republic. When a rash appeared on her thighs a few months later, she was too busy to take much notice. When Eva started feeling extreme fatigue and muscle weakness, however, her symptoms became impossible to ignore.

“The pain was intense. After a slight movement, I felt as if I’d run a marathon,” she remembers. “I had trouble swallowing and real problems raising my arms above my shoulders or even standing up.”

Despite the pain and weakness, she kept going. “I was starting my dream job in Prague and just had to get on with it. I told myself I didn’t have time to think about the pain.”

The pain will pass

Initially, Eva was not so much misdiagnosed as not diagnosed at all. Everyone saw her as a generally healthy woman and whatever the pain was, they were sure it would pass.

As a doctor herself, her intuition told her otherwise. After looking at the results of a blood test she’d had as part of a health assessment for her new job in a fertility clinic, she noticed higher liver enzyme levels and started searching for answers. “I remember wondering whether it could be dermatomyositis, but I didn’t have anyone around to check with, so I put that thought to the back of my mind,” she recalls.

Finally, Eva went to see a fellow doctor in her new hospital and was sent directly to the rheumatology clinic, where she was to learn much, much more about dermatomyositis.

Trapped in her own body

As a child, Eva had sometimes dreamed of being trapped and unable to move her body. Now the feeling was the same. Once an independent person used to helping people, she was very quickly reliant on others for practically everything.

“Dermatomyositis can be difficult to diagnose, particularly if the typical rash is lacking,” explains Professor Jiří Vencovský from First Faculty of Medicine, Charles University in Prague, who also treated Eva. “When patients present with classical signs and symptoms, making the diagnosis is relatively easy. The difficult part comes after that – the treatment.”

Autoimmune disorders cause the body’s immune system to attack its own cells and tissue. Affecting 60-190 people per million in the USA alone,1 dermatomyositis is an inflammatory disease marked by muscle weakness and a distinctive skin rash. More common in females than males, the condition usually occurs in adults in their late 40s to early 60s, or in children between the ages of five and 15 years. There is no cure for dermatomyositis and, until recently, patients were typically treated with corticosteroids, which can have serious side-effects with prolonged use.

Gradually, Eva responded to her medication. By the summer of 2015, almost a year after she entered the rheumatology clinic, she was able to eat on her own again, and speak and move. “Every single day, I told myself: this disease will NOT control me, I will control this disease.” Eva did just that. She did everything the medical team asked her to do, and more.

She worked hard under the supervision of her physiotherapists and then continued to work at home. “I re-learned everything from scratch – to walk, to talk, to articulate.”

Back to a kind of normal

By the autumn of 2015, Eva was finally able to properly start her new job as a gynaecologist. “In a way, dermatomyositis forced me to re-define who I am and how I see myself,” admits Eva. “I now live much more in the here and now.”

As well as being able to enjoy her rewarding job at the clinic, Eva also became pregnant in 2018. “I was extremely happy, and I never imagined that dermatomyositis would come back into my life.” But it did.

Relapse and despair before new hope

After giving birth to her daughter Marta in late 2018, Eva’s myoglobin levels rose again. The disease was back. “I immediately reached out to Professor Vencovský, the doctor who had looked after me during my first attack, and we increased my medication dose, which thankfully helped,” recalls Eva.

Almost 18 months later, she had another relapse. This time, the muscle weakness and pain were intense and unfortunately Eva also suffered a miscarriage. “I couldn’t pick up my daughter: I had no strength at all,” remembers Eva. “I lived in constant fear that something would happen to me, and that Marta would grow up without a mother. I recorded myself singing songs to her, just in case I didn’t make it.”

However, new hope finally came with an invitation from Professor Vencovský to try Octapharma’s intravenous immunoglobulin (IVIg) therapy , which in 2021 became the first treatment to be approved for dermatomyositis in the EU, the USA and Canada.

Eva was immediately on board with this novel treatment modality. Under this therapy, she quickly regained her strength. “After starting IVIg therapy, I had no more muscle pain, and I could hug my little girl very tightly again.” IVIg therapy has restored Eva’s sense of wellbeing. “I see myself as a healthy woman – no more, no less – and that is all I could wish for.”

References

1) https://onlinelibrary.wiley.com/doi/10.1002/acr.24786