#RAREis One: Elly’s Story

I sometimes feel like I’ve been a caregiver most my life.

When I met my recently deceased husband, it was 1972. He was healthy and happy and quick witted. We were married after sharing housing for 5 years, in 1976.

For two years prior to our marriage, my husband, Mike, had been working for a company that made silicone implantable devices and plastic surgery implants. During his employment there, he was often exposed to Ethelene Oxide (ETO) as it was used to sterilize every product made at the facility. He was also frequently exposed to benzine and other highly carcinogenic chemicals. We never suspected it could eventually cause immune system problems, although he was warned that these chemicals might negatively effect his sperm. He and other employees were tested, and he was told his sperm count was just fine.

By the time we married, he had begun to have symptoms of psoriasis. He had eczema and a lot of allergies as a child and we did not consider that the chemical exposure could have been the cause of the psoriasis.

Dermatologists began treating his symptoms with medications. After being prescribed a special medication, he was told that that it would make his psoriasis lesions go away by exfoliating his body, however, he was then told that he could never donate blood because he had taken that medication.

Years later, Mike developed symptoms that scared both of us! His skin became extremely sensitive to sunlight. He developed a bright red rash over his chest and upper arms. His muscles started to burn with pain and he lost muscle mass so rapidly that he could not pull on socks, lift his legs into the car or open a jar. He was miserable!

It took years to obtain a diagnosis. He underwent numerous blood tests and eventually had a muscle biopsy that showed he had a rare disease called Dermatomyositis. Neither of us had ever heard this disease before. And to make it even more rare, we learned that it most often affects women. The diagnosis came in 2012.

In late December, just before New Years’ Eve, i could see he was very, very pale. He was struggling to breathe, had no energy at all, was not much interested in eating, and was getting lethargic! I told him something was terribly wrong, and forced him to go with me to Urgent Care. Right away they determined his blood oxygen level was low. Blood tests did not show a heart attack, but they did not look good. They said “You need to go to the ER right away!” He was transported by ambulance that afternoon and later admitted. They said his white, red and platelet cells were extremely low.

Two days later we got the bone marrow biopsy results. He had acute onset Myeloid Leukemia! We were stunned…

It did not sound like there was anything they could do to save his life, but he wanted to try, so he was put on a regimen of two chemotherapeutic drugs. He had to get blood transfusions every week. After four weeks, his second bone marrow biopsy came back. The chemo had barely done anything! His bone marrow was 90% leukemic. We had to make the horrible decision to stop trying to cure the incurable, and bring him home to pass. Six weeks after his diagnosis, he passed away in his sleep.

Autoimmune diseases are triggered by something. I believe some are genetically predisposed to develop them. I feel so horribly sorry for everyone who develops one.

What I wish everyone would understand is that these diseases are miserable, and they should open their minds to the possible causes, and not assume patients have done something to bring them on.

Mental health therapy should always be part of treatment, and family support would be really beneficial! I was lucky to have Mike in my life for 50 years, but although we had two sons, traveled and enjoyed our life together, this undercurrent was ever present. I was helpless to do anything but bear witness to his increasing suffering, and try to adapt my life to accommodate his needs.

I know he is no longer alive and suffering, but I miss him deeply.

Mike turned 71 on December 8th of 2023. For his birthday I gave him a kit for Sequencing his entire genome, in the hopes that maybe there would be a definitive gene sequence we could find to get a better idea of how this all came to be.

We got the results too late. However, I have contacted the Myositis Association and the testing company. His genome can be made available for research, and I would very much like to donate that to science.

Hear from storytellers who are navigating life with a rare disease, supporting a loved one and advocating for a change in the rare disease community – and the challenges they’ve encountered and overcome. Share your #RAREis One journey in your own words by submitting your story here.