To my Dad,
The lasting memory of my dad is a very thin and frail man with a tracheostomy. I was 10 when he died aged 34. I remember him being in and out of hospital but can never remember being told what was happening. I assumed that no one knew as when I asked I was told it was a rare disease. My mum had remarried when I was 2 and didn’t speak much with him other than to organise contact.
My mother later died of alcoholism when I was 20 and my stepfather of suicide. I did have a very happy childhood in between the tragedy although I had no idea what was to follow. I literally thought life would never be as bad as I had suffered so much loss. The biggest loss was my stepfather who raised me.
Aged around 32 I started to feel weak, I thought I was tired, getting old and that I needed to slow down as I was a busy mum working full time. This weakness continued and was progressing. As the years went on, I was having more problems walking upstairs, getting up from chairs and my balance was becoming affected. I couldn’t work out why some days I was ok and others weaker and I began tripping and falling. When I fell I was finding it such a struggle to get up from the floor. I have always exercised and kept fit and was trying everything I could from dancing, running, Pilates and Yoga. I became very aware that the yoga teacher was noticing what I could and couldn’t do. I could see she wondered why I could manage some poses and not others.
I started to go to my GP to try and find out what could be happening there. It was likely stress & anxiety and that strengthening my muscles would help. Aged 41 I started experiencing pain which started in my feet, which progressively worsened and became full body. I was in such agony and was constantly attending A&E. I couldn’t sleep at all. I felt like I was dying. I was eventually admitted to hospital after a consultant was concerned about the impact the pain was having on me. I had been there so often.
During this admission, I was seen by various Drs including a neurologist, a rheumatologist, and general physician. No one could understand what could be happening. I was asked about family history, and I explained my father had a rare respiratory disease. This was all I knew and my family understood it may have been due to his occupation as a nuclear engineer. I did not relate any of this to a potential muscle disease as I did not have any respiratory concerns. My father was mobile even though he had respiratory failure.
I was eventually discharged on pain medications and was sent an appointment three months later. At this appointment I had a neurological assessment by a rheumatologist who became quickly concerned and asked me to find out what happened to my father. He requested MRI scans of my legs which showed selective atrophy of semitendinous muscles.
No one in my family had a name for the cause of my father’s death. After doing lots of research myself and speaking with my cousin, she held a family meeting with my two uncles and aunt to go through the symptoms of muscle disease to work out if this could have been a rare muscle disease. They confirmed that his symptoms matched a muscle disease.
After this meeting my uncle managed to get the death certificate which stated muscular paralysis, at this point I knew that I had HMERF.
Being a nurse, I have access to medical publications and spent over a year trying to understand muscular dystrophies. I had joined several Facebook support groups and found many people who didn’t have a diagnosis after many years.
Thankfully my neuromuscular consultant, Dr Gozzard, organised a muscle biopsy and genetic testing for TTN mutations. The mutation I inherited indicated I had HMERF. Even though I knew I had this it did not make it any easier when I received this news.
I was informed that this disease had no treatments and that care was supportive. I was shocked that nothing had moved forward since the 1980s when my father died. I was devastated, as was my partner. My kids were unsure what was going on, and I didn’t know what was ahead as everything was so uncertain and people with MD progress at different stages. My concerns started to change and I became worried that I may have passed this mutation to my children. I worry so much about them, especially as HMERF is so rare.
An Invisible Disease:
One of the problems with HMERF is that it is an invisible disability because you cannot see the disease process and the perception of the effect this has on the individual is often underestimated. It has been viewed as being not as severe as others despite all the muscles eventually dying and turning to fat. The fat actually looks like muscle.
Finding Others:
It was through Facebook groups that I began to find other people with HMERF. However, numbers are still low and we are underrepresented. Our community is small. We have an HMERF group with 21 members: three are from the UK, two from Sweden and the remaining are from the USA. General information outside of the research is sparse, even in the main muscular dystrophy national organisations.
I eventually met Chris, the mother of one of my fellow HMERF sufferers, Casey, who inspired me by all the work she is doing for her daughter and my community. After lots of talks and meetings Chris became committed to promoting the Alliance Against HMERF as an international effort as we need to create funds to support the research that is already happening in the USA. Chris has driven this initiative.
As hard as it is to believe, it is clear that there is no other research targeting treatment for HMERF the way there is for other muscular dystrophies.
I believe there are others who have HMERF who are not yet aware they have this due to lack of information on general google searches. We want to change this so that there is more awareness and if people think they may have the disease they know how to advocate for testing.
I ask you to consider supporting this medical research that will change the life of every HMERF patient. Thank you for considering supporting us.
Aynslie Cunningham
Kent, UK