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After over two years of medical investigations, our daughter Josie was formally diagnosed with Ullrich congenital muscular dystrophy in July 2021.
The condition is very rare and progressive with no treatment or cure and limits everything she can do physically. There is no effect on Josie's cognitive ability.
Over time children typically demonstrate more difficulty walking and lose the ability for independent walking, this can be as early as seven or as late as the late teenage/early adult years.
Children can also experience breathing problems while sleeping because the muscles that assist breathing are affected and as such night-time non-invasive ventilation is required. This entails a special facial or nasal mask attached to a small machine that pumps air into the lungs and maintains adequate ventilation.
Another problem frequently encountered by children with UCMD is difficulty feeding. This can result in prolonged mealtimes and failure to gain weight normally. To aid this some children may need to take nutritional supplements or a small surgical procedure called a gastrostomy can be performed, which entails inserting a tube directly into the stomach.
Josie is a bright, fun loving little girl who is very sociable and loves imagination play. She loves nature and to be outside and to simply be involved in everything.
Josie’s condition means she cannot run, jump, climb stairs or transition from seated to standing. The condition reaches further than just the legs, it also means Josie has weak upper body strength affecting her arms, torso and neck. Everyday tasks are significantly more difficult if not impossible for Josie without adult support. She has to wear knee high orthoses both night and day and has to take part in a regimented lengthy stretching routine every night to try and prevent progression of the condition.
Josie has a wheelchair because she finds it difficult to walk for any distance or length of time as her body fatigues.
As the condition progresses, significant equipment and adaptations will be needed in order for Josie to take part in everyday living and for us to aid her independence.
Although the condition directly affects Josie it also impacts the family as a whole. We have a younger son, Harry, who is also having to learn Josie’s limitations and the high level of support she requires. Sharing your time as a parent of more than one child is filled with challenges at the best of times but when one child requires additional support and time, you are faced with the additional challenge to ensure each receives the same amount of your time.
We have set up The Chubb’s Crusade - Understanding Ullrich to raise awareness and funds for Muscular Dystrophy UK’s Ullrich CMD Appeal.
For us it is not just about raising funds, it is also about raising awareness for all those with a disability and how society as a whole needs to be more inclusive.
I once heard someone say “it is the environment we are in which makes us disabled and not just the disability itself”. If the environment we are in enables us the disability becomes less relevant.
Like most parents the most important thing for us is for our children to grow up happy and healthy and we strive to do everything we can to enable them to fulfil their dreams.
This is our heart and soul laid bare because if people are not aware how can they be expected to understand and change.
We ourselves lived in relative ignorant bliss before we were introduced to this new world but now we feel it is our duty to raise awareness and promote understanding.
We are not asking for your sympathy, what we ask for is understanding and to raise awareness and of course money!
Fundraising will be split 80/20 between MDUK’s research into Ullrich congenital muscular dystrophy and help support The Chubb’s Crusade – Understanding Ullrich with future welfare needs.
