When a rare autoimmune and non-genetic disease affects 2 sisters: Our Myositis story.

The story of Laetitia and Emilie

Our testimony concerns the rare disease called myositis or inflammatory myopathy, a systemic autoimmune disease that affects muscles: antibodies attack muscle cells creating inflammation, muscle wasting and loss of strength.
Antibodies, depending on the myositis, can also attack the skin, lungs, heart, swallowing muscles…
Adults and children are concerned.

We are two French women, two sisters, Emilie 38 years old and Laetitia 45 years old. 
Almost 20 years apart, we developed autoimmune necrotizing myositis associated with scleroderma, an overlapping syndrome. 
While myositis is a rare, non-genetic disease, it is even rarer for two sisters to have almost the same form of myositis. 
We explain our journey in turn below.
We illustrate that research on myositis has evolved over the last 20 years and also that international cooperation between medical specialists exists.

We wish you all the best. 
Emilie and Laetitia.

My name is Emilie I’m 38. I was diagnosed with myositis/systemic sclerosis overlap with lung involvement in September/October 2018.

First symptoms happened in April that year with an eye rash called heliotrope rash I didn’t take much notice of it.
Then during the summer I started having joint pain in my arms and hands, soreness in my legs and hamstrings, swollen feet, swollen face, raynaud syndrome. 
I was a tennis coach/player at that time and had difficulties holding the racket for a long period of times, running…

I was going back and forth to my GP every week during that summer as I couldn’t understand what was happening and they couldn’t pinpoint what was causing all my aches and pains.
I was finally referred to Rheumatology in September, and this is when the diagnosis came about thanks to blood tests, muscle biopsy, EMG. What a shock this was, never in a million years would I have thought of being diagnosed with this illness. I had seen my sister struggles for so many years with this illness and couldn’t comprehend why this was happening to me.

I had a severe inflammatory flare-up from November 2018: muscle loss / pain in the upper and lower limb with difficulties walking, dressing up, washing, basically taking care of myself was a huge task. I lost 20kg within 2 months going from 60kg to 40kg, problems swallowing, breathlessness.

I ended up in hospital at the beginning of January 2019 for 3 months including 20 days in intensive care after a generalised clonic tonic seizure which I was told lasted 7 minutes. I was put on NGT and TPN to help with my weight, immunosuppressive medication (cyclophosphamide, IVIG, Rituximab), non-invasive ventilation to help with breathlessness and all sorts of medication due to heart complication, hypertension, flu then pneumonia.

Thanks to the medical team in the UK and the cooperation of my sister’s consultant in France, I started getting better within 2 months to the point of being transferred to another hospital for neuro-rehabilitation for another month.

Now 2 years on, I’m lucky to be stable and have a medical team listening and reacting if I feel that something is not right. 

I had to change professional career as I am no longer able to play/coach tennis as before. Having played competitive tennis from the age of 7 and now having difficulties or sometimes unable to serve or keep the rally going is frustrating. I consider myself lucky to even be able to step on a tennis court.

Take care of yourself. Best wishes Emilie.

I am Laetitia, I am 45 years old and I have been suffering from autoimmune necrotizing myositis with srp positive antibodies and scleroderma for more than 20 years.

I was diagnosed in 2000 with polymyositis (which is a type of myositis) following a loss of muscle strength. 

For several years I was able to stand and do day to day things, an atypical muscle biopsy, doubts about my diagnosis (autoimmune disease vs. genetic disease) and insufficiently effective treatments contributed to constant inflammation and the deterioration of my condition.

Within 8 years, I lost all my muscular strength and ended up in an electric wheelchair. 
The last 20 years, I experienced several inflammatory flare-ups with pulmonary, cardiac and swallowing involvements. 

In 2010, I was able to benefit from the progress of research with the emergence of new antibody tests and obtain a new diagnosis: overlapping myositis: an autoimmune necrotizing myositis with srp positive antibodies associated with scleroderma. 
Access to more targeted treatments have allowed the inflammation to stabilise but not the muscle recovery, I still have heavy after-effects and remain tetraparesic.

When the disease damages you and takes away parts of your life, it is difficult. But when my sister Emilie was diagnosed in 2018, it was a real shock.

Fortunately, history will show that, even though she had a severe flare-up at the onset of her illness, my case was useful to her, both in giving her the right treatment and in supporting her in tough times.
Also, the contact between our respective doctors, she in England and I in France, was a major asset for her care.

Today things are different, if it took 10 years for me to get the right diagnosis, Emilie was diagnosed within a few months. Our future will be different even if we know that we must remain humble and that nothing is decided in advance. 

To make sense of all this and feel useful, I opened the @mamyosite social accounts on which I share informations about the disease and our experiences as patients…
All my support to all of you. 
Laeti.

 

*Find others with Myositis on RareConnect, the online platform for people affected by rare diseases