I live in Surrey with my husband and our daughter who has just turned three. Georgia was diagnosed with CCHS 20/26 mutation at four weeks old. She also has hyper mobility syndrome.
I am the newly appointed Chair of CCHS UK and I’m very much enjoying leading the strategy for the charity. The most recent change we have made is to add research into our remit.
I have a catering, business and customer experience background at directorship level. When I have a free moment I love baking, cooking and playing tennis.
I live in Norfolk with my husband Chris and our three children Isaac, Louis and Emma (and much-loved Golden Retriever Montie). Emma, who is six, is diagnosed with CCHS 20/27 mutation, and Hirschsprungs Disease.
I’ve been a trustee of CCHS since 2018, as secretary to the charity. My role includes issuing information to families, acknowledging fundraisers, supporting conferences and looking for new opportunities to enhance the work of the charity.
I also work as a Freelance Arts Consultant and in my (rare) spare time I enjoy running, walking, renovating my new home, reading and relaxing!
I’m Tom, I’ve been involved with CCHS UK for nearly 10 years, supporting with our charity governance and finances in the role of treasurer. I’ve worked with charities in healthcare, education, and poverty in roles such as trustee, volunteer and fundraiser, as well as past experience with the NHS, local and central government.
My day job involves directing a global data privacy team in the financial services sector, which provides me significant exposure to regulators, regulations and corporate governance.
I live in Yorkshire and spend much of my spare time out and about with my family, plus cooking, gardening and trying to keep fit!
I’m Sophie, Mum to gorgeous five-year-old Charlie who was diagnosed with CCHS at six weeks old. Charlie started school this year and is doing brilliantly, but living with this condition can still be challenging at times.
I have recently become a trustee of CCHS UK to help raise awareness and money, and I’m hoping my experience in comms will be a good asset to the team.
In my spare time, I love reading the papers and drinking tea. I also like running, netball and windsurfing, but a ruptured achilles has put a stop to any of those for the time being!
For a few weeks, the doctors didn’t know what was wrong with me. When I was diagnosed with CCHS, it took many months to arrange my care package. At that time the doctors I were under only knew of one other child living at home with CCHS. I was on a non-invasive negative ventilator, similar to the old iron lung. This meant I didn’t have to have a tracheostomy which at the time was the normal treatment for anyone on long term ventilation.
Once I was discharged home I was able to meet my extended family and family friends. Fortunately, I can’t remember any of the time in hospital. At home I had nurses or carers every night plus a few hours a month so mum and dad could have an evening out. I have a brother two years older than me and I was soon joining him with swimming lessons and football training. At the age of 4, I transitioned to mask ventilation which was much more portable and gave us, as a family, a lot more freedom. When I started school it was agreed that I would have some support with my health needs but the person employed to do this always kept her distance so I never felt ‘different’. Sport has always been my passion and during my school years I joined the local tennis, table tennis, boxing and running clubs. The boxing definitely increased mums stress levels!! I never missed out on any school trips or residentials, including one to France. Where possible a carer would support me just at night, but if not mum would come along for the night cover.
When I left school I went to college to do a sport and fitness course and during this time got a part time job in a local department store. On leaving college I got a part time job in our local Tesco which was soon increased to full time hours.
My spare time was taken up by socialising with friends, running, playing tennis and attending Norwich city football games. I also volunteered with Football in the Community, supporting disabled adults to access football and I taught tennis to a young adult with autism. Life for me was normal, apart from having carers in at night.
With my family I had attended two CCHS conferences in America and at these met a few adults that had assistance dogs. It soon became my aim to have a dog trained to support me to be independent at night. After contacting various assistance dog charities, Medical Detection Dogs agreed to train the first dog in the UK for CCHS. After lots of hard work, Judy came to live with me and she supports me with one thing I struggle with, waking to my alarms. I’ve always slept through my alarms which is why even when I could adjust my ventilators and monitors I still needed a carer. Judy wakes me when my alarms sound by nudging me. I am now carer free.
As a family we wanted to move from Norfolk to North Yorkshire but the thought of a team of new carers having to be trained up was daunting. Judy meant this didn’t have to happen and 5 years ago we made the move and we are now happily settled in our new home. Soon after we moved I met Laura, my girlfriend.
I have completed tennis coaching level 1 and was in the process of completing level 2 when Covid hit. I’m still running and have completed several half marathons and am about to do my 4th full marathon. I have also taken part in a 24hr endure race with my local running club.
Having CCHS has been challenging at times but as I’ve got older hospital admissions are a rarity and I have got my independence. As my Mum set up and run the CCHS Support Group, I have been fortunate to meet a lot of CCHS families around the world and some of these are now life long friends. My next step in my life will be for Laura and I to set up home together.
Our newsletter combines the latest news from various sources on the fight against CCHS.
CCHS is an extremely rare genetic condition which causes sufferers to lose their control of the most basic living function. Breathing. This is always the case when asleep but for some sufferers when awake too. It is caused by mutations in the PHOX2B gene and currently requires lifelong artificial ventilation as life support.