Founding ASUK
by Kay Parkinson
We first heard the words Alström Syndrome in 1996 when our two children were then 18 and 15. Soon after birth they had both been extremely sensitive to bright lights and their eyes seemed to wobble up and down. My daughter also collapsed at 11 weeks in heart failure due to dilated cardiomyopathy but we were told that there was no connection between any of the symptoms they were experiencing and that my daughter’s heart condition was probably due to a virus. They were both registered blind by the time they were 5.
Charlotte also developed hearing problems at age 7. We had been given various different diagnoses during their lifetime which seemed to change as different eye specialists came and went. We really became disinterested in the diagnosis (which only related to their eye conditions anyway) and concentrated on giving our children as happy a life as we could.
When our son was 16 he collapsed – also with heart failure due to dilated cardiomyopathy and for the first time the medical professionals started to think that maybe there was a connection between all the problems that my children were experiencing.
Another new diagnosis was made Lebers Amaurorsis. We were then asked if we would be willing to go to Great Ormond Street Hospital as a Consultant there was looking into this condition. This consultant said their condition was not Lebers Amaurosis but she did know what it was, it was called Alström Syndrome and she had written a paper on 22 people with the condition. She also said that my children would probably also be diabetic (they were) and to get them checked for this.
Through a search on the internet we discovered that there was an International support group the Society of Alström Syndrome families and that research was also taking place at the Jackson Laboratory in Maine USA.
We wanted to find as many families in the UK with Alström Syndrome as we could so we could help children get the best treatments and develop research and in 1998 we started the charity Alström Syndrome UK. We now hold family conferences every year where families affected by Alström Syndrome can meet other families. In 1999 we started a medical screening clinic held alongside the family conference provided through the goodwill of medical professionals interested in Alström Syndrome and funded by Alström Syndrome UK charity. Since April 2002 Alström Syndrome charity has received funding from BBC Children In Need for family liaison work.
The gene causing this devastating condition was discovered in 2001 by scientists working at the Jackson Laboratory in Maine USA and by scientists at Southampton University Hospital, Southampton UK.
Today there is greater awareness of the medical problems that Alström Syndrome can cause and genetic testing for the gene can aid earlier diagnosis. Preventative treatments combined with diet and exercise can slow down the progression of the disease.
If your child has been diagnosed with Alström Syndrome we are here to offer you help, advice, support and access to medical professionals experienced in the disease.
Together we can all help to gain understanding of this rare, genetic disease and try to find the cure. With your help we have hope.
