Rett Syndrome is a life threatening and complex brain disorder which first strikes healthy young children, leaving them with lifelong complex needs. CPMRS is a research-focused medical clinic at King’s College Hospital working to improve the lives and survival rates of all those affected.
It ran from 12:00 PM, 1 December 2020 to 12:00 PM, 8 December 2020
Registered Charity in England and Wales (1136809)
Most children with Rett lose their speech and the use of their hands in very early childhood. In time, most lose the ability to walk as well. But often it is symptoms which are less obvious which cause the most distress to patients and families; from difficulties with breathing, eating, sleeping to cardiac issues and anxiety. Whilst Rett Syndrome is not inherently fatal, some UK patients are still dying prematurely due to poorly-managed, inadequate and or fragmented clinical care.
There are severe gaps in understanding of fundamental issues regarding the treatment of children and adults with Rett. Symptoms which would be a great cause for concern in the neuro-typical population are often dismissed as merely a result of the condition and left untreated. CPMRS will change the way in which these patients are medically managed and treated, leading to improved outcomes and longevity, particularly in more complex patients who are at increased risk of early mortality.
CPMRS have been monitoring A's symptoms for a while now. It's so reassuring to know that they are watching out for any changes. Recently, A started displaying new and distressing symptoms. Within a week of online reporting we had a plan in place to start treatment which was a huge relief.
The help we have had for F from CPMRS has been immeasurable; from the contact and telephone meeting prior to the clinic visit, to the close attention given to us there. During lockdown, the team have been in touch weekly, including Zoom calling F to chat. We feel blessed to have this support.
We are excited to be working alongside Reverse Rett. I believe that together, the unique combination of clinical and research focus at the CPMRS, will provide state of the art holistic care, improving outcomes in the here and now, whilst pioneering research into treatments for Rett Syndrome.
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