Karen, Helen, Eva & Jack's fundraising page for GoPI3Ks

Hi everyone, on June the 7th we are taking part in an 18 mile Kiltwalk in Aberdeen to raise funds for the small U.K registered charity GoPI3Ks. 

I want to raise money for this small charity as my work colleague Ashley Robson's little daughter Annabelle was born with a rare overgrowth condition and the charity GoPI3Ks has been intrumental in supporting them through some difficult times. Ashley said "as a family we weren't aware of any information about this condition until we found this charity." "They have educated us on the condition, introduced us to doctors and helped us meet other families with this condtion." As well as providing financal help to the family with the extra costs that living with this rare condition can bring, such as paying for their garden to be made secure and clean so that Annabelle is able to play outside safely due to medication causing her immune system to be compromised.

Annabelle 

WHO ARE GOPI3KS?

GoPI3Ks (Genetic Overgrowth PI3K Support) is a U.K. based registered charity that helps people in the U.K. & worldwide living with the rare overgrowth condition called PROS. PROS is an acronym for PIK3CA related Overgrowth Spectrum which is an umbrella term for a number of conditions affected by a mutation in the PIK3CA growth gene.

Some of the features of PROS can include, enlarged fingers or toes, abnormal overgrowth of bones, fatty tissue, muscles, organs & spinal overgrowth which can lead to severe scoliosis.   Lymphatic & vascular malformations can occur as well as overgrowth & neurological problems in the brain, causing seizures. PROS also can cause progressive disfigurement, disability, paralysis, weakness, chronic pain and dilated veins: risk of thrombosis and acute pulmonary embolism and death. Additionally PROS can have a poor long-term prognosis, limited treatment options and high mortality rates.

An example of how PROS can affect peopleHOW DO GOPI3KS HELP INDIVIDUALS AND FAMILIES AFFECTED BY PROS?

We are a charity run purely by volunteers & offer information, emotional support & financial help to our members, many of whom are children. We have provided equipment such as electric wheelchairs, specialised medical breathing equipment, helping families with their medical bills, heating bills, specialised physiotherapy, mental health support & with transport costs to & from hospital & more. We also run family weekends &/or zoom calls with leading doctors & scientists, who are able to discuss recent research, treatment options. At our family weekends we also offer one to one doctor consultations, this sometimes can be the first time they’ve had access to someone specialised in this rare condition. Our last family weekend in 2023 brought together adults, children & parents, some who had never met anyone else with the same condition. This makes such a difference psychologically to know that they aren’t alone & that there is hope, a community & people they can lean on.