The year when my sons were diagnosed with CGD was the year I entered this parallel universe.  Previously blissfully unaware of genetic disorders and with no family history, we were suddenly transported into a scary world of rare disease with uncertain diagnosis (we were lucky), lack of information, scarce clinical expertise and all of it affecting our ‘perfect’ children.  As young parents, I remember the anxiety and near panic that we felt as our world was upended. 

Fortunately, our haematologist and the Royal Manchester Children’s Hospital gave us excellent support but we needed to become expert parents too and quickly.  We also needed to find other families to talk to because in those early days, this was a lonely place to be. 

I don’t recall how I found out about the CGD Research Trust, but I wrote a letter to Paul Numan (how quaint!) and quickly got an enthusiastic reply.  The charity had only started the year before and I now realise that he was looking for willing recruits to become trustees so he quickly enrolled me and I have been there ever since!  Paul’s boundless energy drove the charity in those early days with meetings at his house in Berkhamsted over tea and biscuits.

We had much to do but our priority was to get our message out to GP’s, clinicians, and hospitals that we were here and wanted affected families to get in touch.

We were also focussed on the emerging technology of Gene Therapy with the goal to raise £500,000 to deliver this “cure” within 5 years.  (We were naïve; after 30 years we are still 5 years away and we have spent over £2m on research and others have spent much more). 

We had £7000 in the bank at this time, largely earned from an auction that our wonderful volunteer Rosemarie organised at her husband’s farm estate. She was also responsible for the Jeans for Genes idea too which has been the life blood of the charity ever since.

Our first campaigns were in 1992 and 1994 run by a few families in their local areas. This was our first attempt at fundraising – we met TV stars (the boy’s favourites were the Corry stars of the day), local newspaper reporters (we were horrified when the boy’s names appeared on local billboards) we ran book sales, a murder mystery evening and nagged our friends for their support.  I remember that in 1992 the Jeans for Genes campaign made £50,000 – we thought we had hit the big time. 

Looking back now we can be proud that we have come so far.  We have 2000 members across some 60 countries, our website is the best CGD resource in the world, and for some there is a curative option through BMT with Gene Therapy still under development.

However, some of those fundamental challenges from 1991 still remain; how many patients suffer from CGD but don’t know it?  How many GP’s and clinicians are unaware of this condition and mistake symptoms for other diseases?  How do we get regional clinicians from Inverness to Penzance to refer patients to CGD centres of excellence for the best care possible? 

For this rare disease, what we have achieved through our members is truly momentous but there is always more to do.  It is a great privilege to have volunteered for this charity for the last 30 years whilst guiding my boys (now young men of course) to relatively good health.  I still recall with great clarity those scary days when both were diagnosed and our huge family challenges along the way but we now have an expert community around us which is a great comfort. 

What if my wife had not been a carrier? What if the boys had never been born with CGD? What would I have done for the last 30 years? Now there’s a thought…..