Living with a rare disease

Keir is the only child in the UK (and one of only 26 in the world) with familial cold auto-inflammatory syndrome type 2. The only other person in the country to have it is his mum, Laurie. She tells how GOSH helped them.

An undiagnosed condition

When Keir first started walking at 10 months old, he used to point to his legs in pain. He would cry and cry, but I couldn’t see anything wrong.

One day, his ankle was really swollen and it turned black and blue, so I took him to our local hospital in Edinburgh. Over the following weeks, he experienced more swelling and retention of fluids, but the hospital didn’t know what was causing it. 

Keir showed a whole host of symptoms, including migraines, conjunctivitis, pain in his lymph nodes, swelling, lesions and arthritis. I’ve had an undiagnosed condition my entire life, and because we shared similar symptoms, I thought that he might have the same condition.

The symptoms can be extremely painful. We both have special frames around our beds that lift the covers off our skin, because even contact with a sheet can be too painful.

For Keir, a common cold can cause him to retain fluids and leave him unable to walk. Sometimes he can’t move at all, and we have to help him to the shower and toilet. The symptoms normally last for seven days, but they can continue for more than a month.

We went back and forth with the hospital in Edinburgh a lot. They would prepare Keir for surgery because they thought he had an infection, but then the swelling would subside. But Keir’s consultant in Edinburgh, Dr Jo Walsh, knew something else was wrong. 

The condition was something rare and genetic, but all of Keir’s tests came back inconclusive. Searching for an answer, Dr Walsh attended conferences to share information about Keir’s condition – sometimes we did too, but no one had seen this condition before. I never thought we’d find out.

Searching for answers

Keir was six years old when we were told about Professor Paul Brogan, a consultant working at Great Ormond Street Hospital (GOSH), who might have an idea about Keir’s condition. Everyone in the world knows about GOSH. I felt like we were going to the best place in the world.

Professor Brogan told us that one of his PhD students was doing a study on rare diseases, and he asked if our family wanted to participate. We had nothing to lose, so all four of us – me, Keir, his dad, John, and his sister, Rowan – had our DNA sequenced. 

Seven months later, we were called back to our hospital in Edinburgh. Given the road we’d been on so far, our expectations were low. 

I still can’t believe what happened next: they said they knew what it was. Keir had his diagnosis and, after 37 years, I had mine. 

The condition is an extremely rare disease called familial cold auto inflammatory syndrome type 2. We are the only two cases in the UK, and two of only 26 people in the world who have this disease. 

Impact of treatment

The condition is so rare that treatment is quite experimental, and we’ve tried a range of different medications over the years. Keir has taken steroids that made his outbreaks worse and he’s had daily injections that were so painful it could take an hour to settle him down. 

However, since our diagnosis, Professor Brogan has recommended that we take an immune-suppressing drug. So far, it’s been a life-changer. It can be risky because Keir is so prone to infections that can quickly develop into something worse. But in terms of pain management, it’s working well. Keir’s school attendance has gone up from 40 per cent to 80 per cent and he can finally go to parties with his friends.

Keir likes the idea that he’s the only child in the UK with this condition because he thinks it makes him famous. There are times when he’s in pain and he gets upset, but he just gets on with it. He’s a typical rough-and-tumble child and this new drug means he can be one of the boys again. 

Sharing knowledge

We don’t know what’s going to happen in the future because there isn’t a large enough pool of people with the condition to do a study or have a clinical trial. For now, unless anything urgent happens, we will just keep coming to GOSH to see Professor Brogan and sharing our knowledge of this disease with the world.

We also took some Great Ormond Street Hospital Children’s Charity collection boxes back to Scotland with us and we’re hoping to raise some money for the hospital. 

Since our diagnosis, we’ve come to know 12 other patients from across the globe who have this same condition. We have a private Facebook group where we talk about symptoms and give each other support. Because the condition is so rare, we know more about it than the doctors and scientists. We help inform their research by sharing any new symptoms that occur and updating them on how different treatment options are working.

Living with a rare disease is a constant struggle, but we need to keep talking to each other and sharing information. One day, there might even be a cure. 

Rare Disease Day raises awareness about rare diseases and their impact on patients' and their families lives. Find out more.