I've raised £500 to Help raise money to bring together and support families who are affected by the rare genetic disorder; 48 XXYY.

Organised by Alice Gwatkin
Donations cannot currently be made to this page
Penarth, United Kingdom ·Disability support

Story

48 XXYY support group helps put families together who are affected by this disorder. We are run on donations and all money raised is used to arrange days out and family get-togethers. It also includes the costs of bringing in experts from the US. This helps them in their studies, and this in turn raises more awareness for our medical professionals in the UK, whilst providing much needed support for the group.

48 XXYY is a chromosome anomaly that affects a very small percentage of boys globally and whilst our counterparts in the US have been studying this for a number of years and have amassed a substantial body of knowledge on the condition, leading the medical and social studies, in the UK the condition is relatively unknown, un-diagnosed and most importantly unsupported. We hope to change all of that or at least bring hope to those at the beginning of their journey.

Boys normally have 46 chromosomes in each of their cells, but boys with 48 XXYY syndrome have an extra X and and extra Y chromosome. The condition affects 1 in 18, 000 to 50, 000 boys. Each child has a different range of the symptoms listed below.

Physical symptoms include tall stature for their age, hand tremor, leg ulcers, elbow abnormalities, curvature of the little finger (known as clindactyly), stretchy joints (known as hyper-mobility), curvature of the spine (known as scoliosis), significant dental problems, flat feet, low muscle one, and low or no testosterone. Young children may be slow to crawl or walk or have difficulty picking things up.

Neurological and mental symptoms include developmental delays, speech impairment, behavioural issues, social communication disorders, anxiety disorders, depression, learning disability, mood swings, outbursts, and autism spectrum disorders.

About fundraiser

Alice Gwatkin
Organiser

Donation summary

Total
£200.00