Rare Disease Day
February 28 is Rare Disease Day and marks Amanda's Dad's second Anniversary. Francie died of Multiple System Atrophy (MSA), a rare neurological disease with no known cause or cure.
As we learn more about this rare disease, it may be easier to recognise and diagnose. MSA is caused by degeneration or atrophy (shrinking) of nerve cells in the brain.
MSA can result in problems with multiple bodily functions:
• Problems with movement and balance
• Bladder and bowel disturbance
• Cold extremities
• Postural hypotension (sudden drop in blood pressure)
• Difficulty speaking and swallowing
• Quicker progression than Parkinson’s Disease.
There is a lot to learn about this rare disease, and it is likely that many people remain undiagnosed. Clinical research is relatively new, and little attention is paid to the treatment, psychological issues and everyday experiences of living with MSA.
Amanda gives an account of what it was like for Francie living with MSA:
“...Where his mind remained brilliant, his body wouldn’t play ball. MSA can cause a huge degree of debilitation, but you’d never have guessed from Dad’s cool-as-a-cucumber composure.
I remember overhearing at the hospital that he was the gentleman in the sideward with MRSA, as I rolled my eyes at having to explain for the umpteenth time what MSA is. The consultant asked us about the prognosis, we said about 7 years, but Dad was dead just 7 hours later. Really none of us understood what we were dealing with.
We could write a book about his journey with rare disease. He’d sit up googling advances in medical treatments, from Stem Cell Therapy to Clinical Trials. We seen Neurologists north and south of Ireland, and travelled to more overseas.
We travelled the country looking for remedies, trying out therapies and open-mindedly trying new things. Dad joked I was trying to poison him with health supplements and green juices, yet he was so militant about taking them every day because he knew they helped.”
Dad walked up the aisle unaided.
Even though MSA can greatly affect mobility, Francie struggled on.
No two people's journeys are the same.
Luckily Francie maintained quality of life due to his positive attitude towards health and wellbeing practices and having a great support network.
If more was known about this rare disease, it can help patients understand the condition and fully participate in their own management and care decisions.
Dad was keen to hear how radio presenter Gareth O'Callaghan was getting on, as he also had a diagnosis of MSA. Dad had a great interest in following his Facebook page that documented his journey. I remember Gareth's post about a set back he experienced in January, that was just 4 weeks before Dad passed. This followed swiftly by a carers meeting where Dad appeared hands down the fittest and most independent patient in the room.
I remember it filled Dad with a sense of hopelessness about the future. In such strong influential figures, it was hard to see this more vulnerable side of them. I wondered what sort of fear Dad was really facing behind the jokes and laughs.
Was Dad's death untimely, or did he just blind us by putting up such a strong fight?
Gareth O'Callaghan, Irish Radio Presenter & MSA sufferer:
“… What I hadn't taken into account was the damage that this illness has done to my arms, legs and back muscles over the last twelve months…
Much of the medical information I've read in recent months says that the damage caused by MSA is not reversible. I don't accept that. Nor do I believe it. The information also states that the disease cannot be slowed down. My aim however is to prove that I can slow its progress. I have no choice.
If I do nothing, it will nail me (according to what I'm being told). Therefore I have no intentions of giving into this disease or its progress; and the rate of progress of its decline has become steeper for me in recent months…”
Looking back, Dad’s prognosis of 7 years did coincide with onset of his symptoms 7 years previously. It just that it took so many years to get a diagnosis of this Rare Disease. Another strange finding, was that for such a Rare Disease, we started to hear of other locals in the area with similar symptoms and even diagnosis of MSA.
Maintaining Quality of Life
So many people are affected by poorly understood conditions, but no matter what Rare Disease, they all share a common trait. We have the power to use food as medicine. Quality of Life is maintained through following a healthy Diet and Lifestyle. Nutritionist-led care should be an integral part of any treatment plan.
We are hoping to see more emerging evidence on this rare disease, and hopefully scientific research will find the causes and a cure. We hope to see more collaboration between the medical and holistic communities, with a strong focus on nutrition education, so patients are supported physically, emotionally and spiritually throughout their journey.
True wealth lies within our ability to regenerate our health; and, more increasingly, that is coming from our ability to understand the healing possibilities that our bodies possess at a natural level. Sometimes it works, sometimes it doesn't. There's only one certainty in life: there are no certainties. Sometimes you just have to believe in your own strength.
When Dad was diagnosed, we received fantastic guidance from the MSA Trust.
To find out more about MSA, visit https://www.msatrust.org.uk/
