Today, February 29th 2020 is a special day. It’s a day we only get to experience once every 4 years. A day where a percentage of the population finally get to celebrate their birthday after a loooong wait, a day where it’s seen as socially acceptable for a woman to propose marriage (do it any day, ladies!), a full bonus 24 hours to enjoy. It is also Rare Disease Day.
Most of us probably know of someone living with a rare disease. The collection of people that have each disease is relatively small, hence its rare label. There are however over 6,000 varying rare diseases throughout the world, which means that an estimated 300 million people are living with some form of rare disease day to day.
This is a subject close to my heart. Into my 30’s, my world got thrown upside down by the tornado force of rare disease. My sister Tina passed away after being diagnosed with the debilitating and horrendous genetic disease MELAS Syndrome and after the birth of my second son, I was diagnosed with Ehlers Danlos Syndrome and Postural Orthostatic Tachycardia Syndrome. I had never heard of any of these syndromes or any other rare diseases really until I was thrust into this complicated and sometimes scary medical world. I have always had a fascination with researching and learning everything there is to know about something that catches my interest and these diagnosis’ really sparked that part of my brain alive. I needed to know more about what happened to my sister and what had happened to me.
One thing I’ve found having a rare disease is that knowledge is gold. Often you will come across professionals who don’t know very much about your symptoms or experiences with your rare disease, or worse, hold outdated and incorrect views. Self-advocating has become one of my specialised skills and also advocating for my family. My husband is a great example of this, when (around the same time as my own diagnosis’) his foot suddenly and painfully ballooned on Christmas Day. He went through so many appointments, painful and invasive tests and frustrating non-outcomes over the course of 2 long years. It was relentless for him and so frustrating going round and round in circles with no one knowing what to do with him or how to help him. Through my own extensive research I was pretty convinced that he had spontaneous lymphoedema six or so months into his investigations. This is extremely rare in men/people who haven’t had lymph nodes removed/haven’t had a large trauma such as a leg break. Each time we suggested it, it was shrugged off as it was too rare to consider.
Now, I understand why all avenues had to be explored before they look to the more rare conditions but we had about 10 appointments in the last year where we were told that they had no clue what it could be, just to leave it, or suggestions that had been looked at multiple times before. We finally got seen by the head rheumatologist in the hospital we were sent to who actually listened to our idea of lymphoedema, which was finally diagnosed. The terrifying thing is if we had just left it, as suggested numerous times, I don’t know what would have happened. After his diagnosis we were told his chance of getting cellulitis was a lot higher than the average person and what to do if it happened. Well, it happened. Twice. Not just cellulitis though, sepsis along with it. If we hadn’t had the information from the Lymphoedema team of what to do and how quickly it can take over a fit, healthy dude (literally hours from feeling fine to laying in resus) I don’t know if Ray would still be here.
Last year, after having a nagging feeling that there was something wrong with Sullivan and once again being family advocate, trusting those deep instincts we develop about ourselves and loved ones, Sullivan (and consequently through genetic testing, my older son Thom and myself) were diagnosed with the rare disease Alport Syndrome. This time I will forever be grateful to our wonderful paediatrician who listened to me the first time I approached him for help and the amazing geneticist at Guy’s hospital who ran tests on a ‘hunch’ as he’d not seen what he though it might be in 16 years of practising clinic. These two professionals weren’t afraid to look to the rare for answers. They listened to us and took us seriously. This has enabled us to be able to start on the right path early for mine and both boys’ care regarding kidney function, hearing and eyesight. It is a progressive disease which we cannot stop (yet!) but we can slow down somewhat with medication, dietary changes and lots of monitoring.
Alport Syndrome has been in the news a little recently with Shae Hutchinson, an aspiring Norwich City FC academy student putting a search out for a new kidney and Sam Clarke and Alport UK winning second place in the Rare Film Festival 2020 People’s Choice Award, with their film Fighting Failure.
Living with a rare disease is hard. It can be an isolating and overwhelming world when you feel like no one really knows what you’re feeling or going through. It can be scary when GP’s or Doctors look to you for answers. The information you have to remember and the amount of hospital appointments can feel like it’s all drowning you at points. Support groups can be amazing and I feel blessed to live in an age where I can make connections with families over the world, thousands of miles away from us, but going through similar ups and downs.
That’s why it’s great that days like Rare Disease Day exist. Every little bit of exposure and awareness helps people with rare disease, along with their families and carers, feel more supported, heard and standing with others. Do you have any experience with rare disease? I’d love to hear about it below!