This week’s blog is written by a member of the rare disease community, David Ross, who is currently taking part in a clinical trial for Cowden Syndrome in the hope that it will improve the lives of others living with the condition. 
 
David’s story
My name is David Ross, I am 44 years old and was diagnosed with PHTS (Cowden Syndrome) 2 years ago. I decided to get tested for the disease because my mother had Cowden Syndrome and gave me a letter from her doctor with the information needed for family members wishing to find out if they have the condition.
 
Last year I saw a Facebook post from one of our support groups about a clinical trial of a drug for my condition. The aim of the trial was to evaluate the safety and neurocognitive effects of this drug in patients with Pten Mutations.
 
I weighed up the risk/benefit ratio and felt a trial like this was potentially important for my disease community because, whilst it may not be the cure for the disease, it could possibly be a stepping stone to better medication for the needs of the PHTS community.
 
My first trip to America mirrored my experience on the trial where everything felt new, exciting, important, a bit daunting, hopeful and empowering. My walk from the hotel in Brookline, Boston to the Boston Children’s Hospital on the morning of my appointments really made me feel how fortunate I was to be there, and also how important the trial was, when I would walk past other hospitals such as Brigham and Women’s Hospital, Beth Israel Deacon essential Medical center and also the Harvard Medical School.
 
From a U.K. point of view, walking into the Boston Children’s Hospital for the first time was like walking into Wembley for a football cup final. The size and scale of what I was doing really hit me when I first walked in.
 
As the trial has gone on I feel really lucky and more confident to be part of something that may benefit myself and others. The psychological tests plus the eye tracking test and EPG have been fascinating to be involved with, and I have experienced a sense of self discovery in understanding how my rare disease may have impacted my behaviour and abilities throughout my life.
 
Inheriting the disease from my mother comes with mixed emotions. On the one hand, if there was more awareness, education and knowledge of the condition, my mother would have been tested and treated earlier in her life and still have been here now. On the other hand, it has helped me deal with bereavement in the sense that my mother is making just as much of a difference now as she did when she was alive.  I feel that  this is a good way to go forwards with my grief instead of learning to live with it.
 
Being involved in the trial and raising awareness has given me a sense of hope, optimism and belief that my rare disease community is heading in the right direction towards making a real difference. Whilst I was not able to make a difference towards my mother’s health, I do feel that myself and others are taking positive steps towards a better future.