Skip to main content

About Stickler Syndrome UK

How we started

Stickler Syndrome UK (SSUK) was founded by Wendy Hughes in 1989. In October 1994 the Group held its first conference in Birmingham. More than 100 people attended from all corners of the UK as well as from the Netherlands and Eire. Dr Gunnar Stickler, who defined the condition in 1965, came over from America for the conference, and accepted the Group’s invitation to become their Life President.

In 1995, Wendy Hughes published her book Stickler – The Elusive Syndrome, which was warmly welcomed by both medical professionals and families. It is still the only book published on the condition. A new edition was published in 2006, and there are plans to publish it as an E-book. Find out more about the book here.

In January 1997 the SSUK was granted charitable status and successfully applied for a 3-year grant from the National Lottery Charities Board. Three months later a Development Officer was appointed to raise awareness of Stickler syndrome and to develop the group beyond its present voluntary capabilities, and Wendy Hughes was officially recognised as SSUK Founder and Honorary President. Read Wendy’s story here.

Why we are needed

Stickler syndrome is a common but little recognised genetic disorder. One in 10,000 persons may be affected, although many medical professionals believe that the figure is considerably higher. Symptoms are variable and can present in different ways even with the same family.

When a symptom appears, it is usually treated by a health professional from one particular discipline (e.g. ophthalmologist, cleft team member, rheumatologist, or an audiologist). Unless all these professionals are aware of the wide range of symptoms which are characteristic of Stickler syndrome (e.g. high myopia, unexplained retinal detachments, early cataracts, a cleft or high-arched palate, hypermobile and/or painful joints, hearing loss etc.) a diagnosis may not be made. Even though Stickler syndrome is a genetic condition, some individuals may present with no clear family history of the condition, and once again a diagnosis can be missed.

Stickler syndrome is grossly  under-diagnosed in the UK. Yet early diagnosis is vital. Individuals who know that they have the condition must:

  • Seek help immediately if they experience any changes in vision.
  • Receive informed care and treatment for a wide range of medical problems.
  • Prepare for the physical and emotional impact of having a genetic condition which is lifelong and cannot be cured.
  • Seek genetic counselling and make reproductive choices based on sound knowledge.

How the SSUK can make a difference

  • By raising awareness of Stickler syndrome amongst medical professionals and the general public.
  • By emphasising the value of early diagnosis for adults and children with the condition.
  • By stressing in our literature, and to all professional and family contacts, that prompt treatment for retinal detachment and other eye problems associated with the condition can help to preserve vision.
  • By producing clear and accurate information about Stickler syndrome in print and on our website.
  • By organising conferences, family days and other events for affected families and for professionals who want to be informed about the condition.
  • By taking our leaflets  and display stand to events aimed at medical professionals, and at people with a visual or hearing impairment, or with restricted mobility.
  • By encouraging individuals and families affected by Stickler syndrome to become members of the SSUK so that they can be updated on medical research and  receive copies of all new SSUK publications.
  • By helping to alleviate feelings of isolation and distress in affected individuals and families throughout the UK, especially when they are undergoing medical procedures related to Stickler syndrome.
  • By encouraging medical and other professionals to join our mailing list so that they can receive all SSUK publications and thus be better able to advise sufferers and offer appropriate support.

Membership

Click here for our membership page with all the relevant information on.

Information for you

Information booklets for the following topics can be downloaded from this site from our downloads page.

  • Stickler Syndrome: What is it and how can we help?
  • Eye Involvement within Stickler Syndrome
  • Joint Involvement within Stickler Syndrome
  • Understanding Genetics and Genetic Testing for Sticker Syndrome
  • Oro-Facial Abnormalities within Stickler Syndrome

Information for professionals

If you are a medical or other professional you will find further information on Stickler Syndrome on the Professionals page.

Fundraising – Everybody needs a helping hand

The SSUK has many demands on its limited resources and we are kept extremely busy providing information and support to our members as well as dealing with enquiries from professionals. We are aware of some exciting opportunities that could help raise the awareness of Stickler syndrome and developments that may lead to improved diagnosis and treatment of the condition.

Unfortunately, due to a lack of funds, we are not in a position to carry out as many of these initiatives as we would like. We are a small charity that relies almost solely on donations from our supporters and the help of a dedicated team of volunteers.

Perhaps you could give us a ‘helping hand’ by sending us a donation? No matter how small – your support would be most welcome and greatly appreciated. Please could you make your cheques payable to Stickler Syndrome Charitable trust. Contact details can be found on the contact us page. You can also donate online via JustGiving.