I live in a family where there is a rare disease. This is why Rare Disease Day matters

Today – February 28 – is Rare Disease Day 2017. In this piece, our young blogger Rowan writes about her family's experience of living with a rare disease.

Rare Disease Day this year is today, February 28th. The real rare disease day is actually very rare also, it is February 29th but this only happens once every leap year. The Scottish Parliament will be holding a reception for Rare Disease Day on 1st March and I hope to be attending with my brother, mother and father. You can watch a video about Rare Disease Day here:

What is a rare disease?

A rare disease is a disease which affects very few people. In the case of my brother and mother, they are the only two people in the UK suffering from Familial Cold Autoinflammatory Syndrome Type 2. Other facts about rare diseases are:

  • there are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day,
  • 50% of those with rare diseases are children,
  • it is estimated that 300,000 people in Scotland are affected by rare diseases,
  • in the UK, a disease is considered rare if it affects fewer than 50,000 citizens per disease, although most are much rarer than that,
  • 80% of rare diseases are genetic in origin so affect people throughout their life,
  • 30% of children with a rare disease will not live to see their 5th birthday,
  • rare diseases are responsible for 35% of deaths in the first year of life,
  • 80% of all rare disease patients are affected by approximately 350 rare diseases.

I live in a family where there is a rare disease. My mother and brother – who is 9 years old – both suffer from a disease called Familial Cold Autoinflammatory Syndrome Type 2. They are the only two people diagnosed in the United Kingdom. At the moment their disease has no cure and they will have it all of their lives. Luckily for us, their disease is not life threatening— just extremely painful. The Great Ormond Street Hospital has written about my brother on their website for Rare Disease Day.

They have to get very rare, experimental and expensive drugs. They have to travel to London to Great Ormond Street Hospital and the Royal Free Hospital to get treatment and see the experts, such as Professor Paul Brogan who works at Great Ormond Street Hospital and University College London.

Paul Brogan comes from Penicuik in Scotland, which is near Costco— so my brother and I call him Professor Costco.

He has set up a clinical and academic programme for the developing field of paediatric vasculitis and autoinflammatory diseases. He is really cool.

I first asked him when he started researching rare diseases and he told me he had been doing it for about 25 years. I then wanted to know what he found interesting about researching rare disease. “What interests me most is that doctors don't have all the answers, we learn a lot from the patients and the parents of our patients and that happens every day.” I told him that I had heard that from my mother and father and was happy that he agreed with them.

I then asked him why he wanted to work only with children. “When I was a medical student, I was working with a cardiologist called Doctor Brown who normally worked with adults. I saw him examining a 10-year-old boy and I thought it would be much better if a paediatric cardiologist was examining him, and I decided then that I would work with children.” He then joked with me by saying “Back in the 1970s and 1980s, when I was at school there was a TV show on a Sunday called "All Creatures Great and Small" about a vet who was actually Scottish. I thought I would like to become a vet because I prefer animals to kids.”

Every time we go to Great Ormond Street, Professor Brogan is really good to us. makes my parents and brother so happy knowing that he is the best in his field and that he is helping us.

When you have a rare disease here are the nine things patients are tired of hearing:

  1. “Will I catch it from you?”
  2. “You will grow out of it”
  3. "Think positive thoughts"
  4. "What did you do to cause that"
  5. "There's bound to be a cure, keep praying"
  6. "I have that too"
  7. "At least it's not cancer" (Sometimes it is)
  8. "You use your illness as an excuse for -----" and the best one…
  9. “You don’t look sick”

Most people don’t know about rare diseases because they are rare and there are so many of them, so they don’t really get publicity. Rare Disease Day is one of those days where hopefully people will recognise that there is such a thing as rare diseases and will find out how difficult it is for the patients and families living with them.