We are a global patient and parent run non profit network of children and families across 34 countries, living with our Rare Disease, Aarskog Syndrome.
Our primary purposes are in identifying and supporting our patients, symptomatic females (carriers) and families living with Aarskog Syndrome by creating better provision and support regarding access to long term, lifelong healthcare, management, education and improved research pathways.
Aarskog Syndrome is an X-linked recessive, rare genetic condition only discovered by Dagfin Aarskog in 1970.
X-linked inheritance means that the gene actually causing Aarskog Syndrome (FGD1) is located on our X chromosome. Females have two X chromosomes; males have one X and one Y.
Therefore, it is believed only males actually have Aarskog Syndrome with a global prevalence of around 0.4 per Million in the general population..
However, in the UK and across the world patients, symptomatic females (carriers), parents, and families are struggling within health and education as very little information exists in society about what Aarskog Syndrome is or what it is like to live with Aarskog.
To date Aarskog Syndrome is a rare genetic condition with no known cure.
September 29th - 4th October we hold a global awareness week to highlight aspects of the condition and raise awareness of Aarskog, raise vital funds critical to support familes and to also support the much needed work we do helping children and young people from 0 to 18 and beyond into their adult lives.
Firstly, we bring together a mixture of parents with recently diagnosed babies or small children or people who have been living with AS but never had a connection with anyone else with AS. Young people with AS and also older people experiencing health difficulties who came across us as a result of our awareness raising across social media or recommendations from Genetics Departments or other NHS and health organisations.
We are active members of the Rare Disease community and engage with a plethora of clinicians, medical professionals, SENCO's, OT's, governments and other organisations and institutions on behalf of our patients and parents.
We provide a dedicated website with active private groups for patients and parents on FB, a freephone number and active social media. We also have a 501(c)(3) in the USA based in New Jersey, a bedrock for our US families.