Living with polyarteritus nodosa by Tomas, 21

Tomas, 21 is now studying for a Masters’ Degree in Criminology but here, he recalls his time at Great Ormond Street Hospital (GOSH) when doctors first discovered that he had polyarthritis nodosa.

The early days

“The name of my condition is polyarteritus nodosa and it effects all the arteries in the body, ranging from eyes, head, legs and all your muscles. It makes you feel generally unwell, causes aches and pains and can affect your optic nerves."

Coming to GOSH

“The condition started when I was about three years old but because it’s so rare, the doctors didn’t know what it was. We went to and from different hospitals in Wales but nobody seemed to know what they were treating. Eventually it got so bad that I had a brain haemorrhage because I hadn’t received the right treatment.

“My mum was so unhappy and worried that she took it upon herself to get me referred to GOSH, by this time I was more than 8 years old. When we got to the hospital we were quite shocked at how old the building was compared to the ones we had been to in Wales, but we couldn’t compare the doctors, they were fantastic. The nurses were really helpful too and just made me smile all the time.

“I had several different teams treating me for different things while they tried to find out what my condition was, finally they decided it was polyarteritus nodosa."

Treatment

“In the beginning I had to have chemotherapy but now I have to take a range of drugs including Azothioprine and Lansoprazole. I had stayed at GOSH for a few months while they did the initial diagnosis and treatment. Then I had to come back for monthly infusions of Infliximab. We used to have to get up at 5am to get to GOSH for 9am, then go home the same day. Now I have them done locally."

Memories of GOSH

“I especially remember the play therapist, we made a dragon out of paper and glue and we made a real pizza too. The nursing team were very supportive and organised trips to the British Museum and the Science Museum - I used to have a very good relationship with the nurses.

“Oh and I loved the food!

“I managed to keep up with my school work because I was fortunate enough to have a Learning Support Assistant back at school.

“The best thing about coming to GOSH was receiving the answers we needed. Believe it or not, although I’m 21, the consultants are still in contact with me, because my condition is so rare.

“As a result of their continued research, I was involved in a PHD research project and the results suggest that a bone marrow transplant (BMT) might cure me. So I’m awaiting a BMT at the moment.

“I would say to other boys and girls coming to GOSH, the most important thing is to have faith in the doctors and if they were feeling scared I’d say don’t panic everything will be ok."

The future

“At the moment I’m writing a 6,000 word essay for a Masters' Degree in Criminology and I work in a blind institute supporting people with disabilities because obviously it’s had such an impact on me I want to help others. I’m hoping I can go into some kind of youth rehabilitating justice job, or something.”

Medical update

Although Tomas’ initial diagnosis was more than 10 years ago and he has now been transferred to adult care, the consultants have remained in contact with Tomas and have continued to monitor his progress. As such they have now detected that he does not have classic polyarteritis nodosa, but has a new genetic disease called DADA2 caused by mutations in a recently descovered gene; this new genetic disease can mimic polyarteritis nodosa.