I remember deciding what to wish for - my dad beating cancer or a healthy baby. I chose a healthy baby. It was only a \u2018wish bone\u2019 from our roast chicken \u2013 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.<\/p>
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\u2019t the best feeder, there were no real problems and no one was worried.<\/p>
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 \u2018fix\u2019 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\u2019d found the \u2018solution\u2019 and then realised it hadn\u2019t 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. \u00a0<\/p>
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.<\/p>
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\u2019s 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.<\/p>
In 2021 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\u2019t 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\u2019t sure where I\u2019d 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<\/a> became a registered charity in England and Wales.<\/p> 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\u2019d never previously heard of, spoken on the radio and held sold-out fundraising events.<\/p> Shortly after our creation I was contacted by the Australian foundation ACNRF<\/a> 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 \u2018switch on\u2019 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 \u2013 coming in at around $1.5million. My gut instinct was to run away \u2013 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. Phase 1 of this project is now underway and showing great promise. We still have a long way to go with funding Phase 2 but fortunately, we are not alone in this, with the project being supported by funded by ACNRF USA and supported by ACNRF Australia and Association Enfants CASK France<\/a>. <\/p> Since establishing in 2022 we have gone from zero research in the UK with, at the time of writing, four UK universities researching this rare disease. If someone had told me how quickly things can change, back when I established the charity, I would never have believed them. This progress keeps me motivated and passionate. <\/p> 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\u2019s 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.\u00a0 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.<\/p>","urlTitle":"lauras-story-from-new-mum-to-founder","url":"\/blog\/lauras-story-from-new-mum-to-founder\/","editListUrl":"\/my-blogs","editUrl":"\/my-blogs\/edit\/lauras-story-from-new-mum-to-founder\/","fullUrl":"https:\/\/cask-research-uk.teemill.com\/blog\/lauras-story-from-new-mum-to-founder\/","featured":false,"published":true,"showOnSitemap":true,"hidden":false,"visibility":null,"createdAt":1738755736,"updatedAt":1738759600,"publishedAt":1738759599,"lastReadAt":null,"division":{"id":383390,"name":"CASK Research UK"},"tags":[],"metaImage":{"original":"https:\/\/images.podos.io\/4yuoe74pcdqhpixkyp8gg2lounq077plp2gsrueekhxenhf7.jpeg","thumbnail":"https:\/\/images.podos.io\/4yuoe74pcdqhpixkyp8gg2lounq077plp2gsrueekhxenhf7.jpeg.jpg?w=1140&h=855","banner":"https:\/\/images.podos.io\/4yuoe74pcdqhpixkyp8gg2lounq077plp2gsrueekhxenhf7.jpeg.jpg?w=1920&h=1440"},"metaTitle":"","metaDescription":"","keyPhraseCampaignId":null,"series":[],"similarReads":[],"labels":[]}