MY HEALTH EXPERIENCE: FIONA ROGERS
PEOPLE TELL ME I’m a medical wonder and I suppose there’s some truth in it. I almost died twice And I’m not yet 40. And my case has been documented in a medical journal. Not many people can say that.
It all started when I was 21 and began losing weight rapidly. I didn’t know what was wrong with me. I was eating, but I was getting weaker every day. Over eight years, I went from Sligo hospital to Manorhamilton to the Meath hospital and finally St Vincent’s hospital. The Meath hospital said I had an unidentified virus.
People thought I was anorexic but I knew I wasn’t, and my family knew I wasn’t. I spent six weeks in a ward for people with anorexia in St Vincent’s where they watched me eating.
Then they got a neurologist onto the case. Dr Michael Hutchinson called for a fresh muscle biopsy, which was sent to Paris, and two weeks later I had my diagnosis. It was a bit of a mouthful: “Mitochondrial myopathy ragged-red fibre with reduction in complex I, II, III and IV”. And just for good measure, I had severe osteoporosis. I remember the doctors in Manorhamilton told my father I had the bones of an 80-year old woman.
I hadn’t a clue what mitochondrial myopathy meant, but I was relieved to have a diagnosis. I was 29 years old and weighed four and a half stone, but at last I could put a name on my illness.
In layman’s terms, it’s a type of muscular disease and is caused by a defect in my mitochondria, which provides energy for muscles. Mitochondrial dysfunction is also linked with conditions such as multiple sclerosis and diabetes.
Because of the weak muscles, my body was not converting the food into energy. It affects my whole body in many ways, but the most obvious symptom is not being able to walk unaided because my muscles aren’t strong enough to hold me.
You would think that was the end of it, but no. Two years after the diagnosis, I fell ill with what seemed to be a tummy bug. My condition deteriorated rapidly and I was admitted to Sligo hospital.
The next morning, my heart stopped and I went into respiratory failure. Dr Eamon MacSearraigh saved my life. He was doing the rounds and as he was leaving the ward he noticed that I was turning blue.
Then I developed pneumonia and my parents Michael and Carmel were told my chances of survival were 50/50. They couldn’t believe they were back in this position with me. Back when I was 10, I had a burst appendix and it was touch and go for a while, too.
The doctors asked if they could do a tracheotomy. I didn’t even know what it was. It involved making a hole in my neck, into the trachea, or windpipe, to suction out all the mucus on my chest and help me breathe properly.
Once that was done, I could no longer eat. They tried to feed me through my nose but I couldn’t tolerate that at all. Then the doctors suggested we try “peg” feeding. This involves putting a tube into the stomach and feeding me with a balanced mix of nutrients.
My peg is the best thing that has happened in my life. Calcium is so important for your bones – everyone should have two glasses of milk a day – and I know I’m getting it in my peg feed.
I really miss eating. I miss my mother’s lovely lamb dinner on Sundays, and her home-made vegetable soup. The first Christmas was the hardest. I cried in the sitting room while the family enjoyed the turkey, ham, and roast potatoes, but Dad coaxed me in to the kitchen to join them. I had my peg in, but there is nothing like the real thing.
After the tracheotomy, I developed problems because saliva and mucus would leak up onto my chest, so I was constantly soaked. Mam and Dad had to “suction” it out, often up to 40 times a day. I hated it and so did they. It was very undignified.
Then Dr John Russell in St Vincent’s hospital got involved and after trying one procedure which didn’t work, he suggested a tracheal separation. This was radical because, by cutting the windpipe, which links my lungs and nose, I would never be able to speak again. Nor would I be able to do things like blow my nose or swallow my saliva. It was a traumatic time for all the family and we had a massive decision to make but I felt there was no other option.
They told me I was the first adult in the history of St Vincent’s hospital to have a tracheal separation. It was a tough decision, but we were so glad to send the suction pump back to the health board afterwards.
Dr Killian O’Rourke of the Dublin Neurological Institute at the Mater hospital has been like a family friend through all of this and suggested that we get my DNA sequenced. A whole team of doctors worked on this in St Vincent’s, Beaumont hospital and Newcastle University.
Their report was published in the Muscle and Nerve journal last July. It says I am only the second known case with a genetic mutation 8313G and the only surviving person as the other case, a 15-year-old boy, died in 1997. They think that this genetic mutation caused my condition.
So that’s my story and I and my parents are keen to tell it because there could be other people out there with an undiagnosed mitochondrial myopathy.
I spent eight years trying to find out what was wrong. I have been to hell and back and I would hate to think anyone else would have to go through that.
My advice to anyone who is sick and cannot get an answer is to ask to see a neurologist. Keep on trying and never give up.
Since my diagnosis, I have gone from four and a half to seven stone. I see this as a success story and that’s thanks to my parents and brothers who have been constantly by my side. My father has done so much research on my condition, you could call him Dr Rogers. You should see the briefcase he has filled with medical documents from the internet.
I still live with my parents beside the family shop in Ballymote, Co Sligo, and I get around with my walking frame and wheelchair. I go out with the Wheelchair Association twice a week and really look forward to those days.
I do miss talking – who wouldn’t?
But I have good friends in the Wheelchair Association. We have the best of craic on the bus. And my friends know me well and are good at lip-reading me.
My family and I have devised a mix of ways of communicating, between lip-reading, using a wipeable board and text messaging. If they are in the shop and I need them, I just text.
Yes, I miss my life as it was, before I got sick. I loved working in Casey’s pharmacy in Ballymote, meeting people, having a few words with them and helping them the best I could.
What’s my prognosis? I don’t know, but then again, does anyone know what lies ahead for them? You could be hit by a bus tomorrow. My condition cannot be cured, but it can be maintained and I hope that stem cell research will provide a cure one day.
I’ll be 40 in July and there were times when many people thought I would never see that day.
As related to Alison Healy
MITOCHONDRIAL MYOPATHY: WHAT IS IT?
Mitochondrial myopathies are a group of neuro-muscular diseases caused by damage to the mitochondria – the cells energy-producing structures.
A typical human cell contains hundreds of mitochondria, but a mitochondrial disease can shut
down some or all them, cutting off the energy supply.
Dysfunction of the mitochondria particularly damages the nerve cells in the brain and muscles as they require a lot of energy.
The symptoms of mitochondrial myopathies include muscle weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, vomiting and seizures.
There is no specific treatment
for any of the mitochondrial myopathies, but physical therapy may help to extend the range of movement of muscles and improve dexterity.
