This week’s blog was written by Laura Hattersley, Founder and Director of the CASK Research Foundation. Laura picked up the baton for her daughter Sarah and other CASK warriors by founding the UK rare disease organisation CASK Research Foundation in January 2022. Her organisation is passionate about helping to find treatments for CASK gene mutations. Laura shares her rare journey below!
I remember deciding what to wish for – my dad beating cancer or a healthy baby. I chose a healthy baby. It was only a ‘wish bone’ from our roast chicken – a family tradition of breaking it in half and whoever got the longest part got to make a wish. I was seven months pregnant at the time and my dad had pancreatic cancer and died two months later.
When my daughter was born I thought my wish had come true. She had the most incredible mop of dark hair and, although she wasn’t the best feeder, there were no real problems and no one was worried.
Three months later and all this had changed. Sarah had been diagnosed with a rare neurological disease caused pontocerebellar hypoplasia. The most common form of this disease has a particularly poor prognosis with death in infancy. Still grieving for my dad, I was now grieving for my only child. With the kind of personality I have I threw myself into trying to ‘fix’ her. I looked up every possible therapy, tried most of them, spent a ton of money on gadgets and lived on a wave of highs and lows when I thought I’d found the ‘solution’ and then realised it hadn’t worked. During this time we got a more accurate diagnosis of her condition, and learnt that it was caused by a mutation on the CASK gene.
This came with a more optimistic prognosis but also a more unknown one since MICPCH (which her disease is formally known as) is extremely rare and with little research into it.
CASK gene disorders have a range of phenotypes, with the majority of males dying within the first year and the majority of females have severe cognitive impairment, are non-verbal and cannot walk. Some also require feeding tubes, suffer from intractable epilepsy, have vision problems and hearing loss. This is how my daughter is minus the hearing loss. Some females do pass away before adulthood but it is unknown what the prevalent cause of death is. Generally everything is unknown when it comes to CASK disorders.
There were a few things that saved me during those first few years: my husband who was, and still is, my rock; a local Conductive Education centre where I took Sarah a few times and week and where I met some lifelong friends; and the online Facebook group for CASK gene disorders. The latter is where I found my true passion and where I was able to use my skills as a biology teacher. Parents were desperate to understand their children’s genetic reports and I was able to help them with that. I created a website to assist families with the science and then expanded it to add all sections of advice, from charity help to navigating the UK benefits system. I had also started to write a blog about my experiences, following a bit of pushing from my husband who thought it would be cathartic, which it was.
Just over a year ago something happened that changed my path completely. A mum in Australia was seeking funds to create a grant so that a leading CASK researcher could continue his research into a possible therapeutic for the disease. Frustrated that by donating abroad we wouldn’t receive tax relief and concerned that this would put other UK families off from giving, I realised a UK charity was needed. I was very reluctant to start one myself, since by then I had a young son too and, although I had given up my job as a teacher, I still wasn’t sure where I’d find the time to take on such an endeavour. I reached out to the UK community but disappointingly no one picked up the baton. Fortunately, I quite like a challenge and I get bored easily, so, in January 2022, CASK Research Foundation became a registered charity in England and Wales.
Life has been a whirlwind since then. It has been the steepest learning curve but also the most rewarding experience of my life. I have taught myself how to create a website, I have learnt how to run online meetings, write promotional material, design social media posts and immersed myself in the science of CASK. I have spoken with scientists around the world, joined organisations I’d never previously heard of, spoken on the radio and held sold-out fundraising events.
Shortly after our creation I was contacted by the Australian foundation ACNRF who had been approached by a lab in the US. This lab already works on two very similar rare diseases and are pushing the frontiers of gene therapy. They are pioneering techniques that will ‘switch on’ the CASK gene on the silenced X chromosome. Without going into the X-linked science, the theory of this implies that this could correct the disease and thus massively change the prognosis for our children. The price tag for this research is high – coming in at around $1.5million. My gut instinct was to run away – how can a new charity even think about helping to contribute to such a huge pot? My scientific brain told me to investigate it further. It has now passed the rigorous peer review process, it has been approved by our research review committee, and we are currently in talks to answer any remaining questions and/or to make any alterations that could make the project more feasible. Fortunately, we are not alone in this, with the project being supported by ACNRF Australia and USA and Association Enfants CASK France.
Our four charities, spread across the globe, are now partners, and I count the directors as firm and loyal friends. We also have a small US team who aren’t affiliated with any particular charity but who help coordinate things, reach out to scientists and help with the promotion of the CASK community database which is held by RARE-X. I would highly recommend any new rare disease organisations signing up with RARE-X and collaborating with them to create a detailed, secure and patient-owned medical registry.
At the time of writing, we have 20% of our known community registered with RARE-X, an epilepsy study proposal awaiting review from a world-renowned university and a natural history study lined up by a well-known UK university. The team effort behind this is why we have managed to move so quickly and effectively.
Although we are a newly established charity we are gradually building up our portfolio of fundraising initiatives. This Christmas Comberbach, a small village in Cheshire, had its first ever Advent window trail and called it Sparkles4Sarah after my daughter. They raised over £600 for CASK Research Foundation and we now hope to have Sparkles4 events up and down the country every Christmas. Having this as one of our main fundraisers seems extremely fitting since all of our children love bright and twinkly lights, it is an activity that can be enjoyed by all ages and abilities and seeing the beautiful windows makes people smile, which is exactly what happens when people meet our wonderful CASK warriors.
Having a child with a severe and life-limiting disability is one of the worst things that can happen to a person. I would never wish Sarah’s life or suffering on anyone, but for me, although there will always be dark and difficult times, it has brought friendship, purpose and love into my life. Sometimes events in life break you into a million pieces, but when you finally build yourself back up again you find you are a stronger and more whole person than you were before.
Although she will never know it, Sarah is my greatest teacher and the world is lucky to have her and her friends all around the globe making this world a better place.