News update...

MORE RESEARCH DATA REQUIRED FOR DEVELOPMENT OF EARLY SCREENING TOOL...

‍We continue to seek families with a child between 4 and 10 years of age with Type 1 Stickler Syndrome?

If the child doesn't have another connective tissue or genetic diagnosis, or a previous diagnosis of Perthes disease, just 5 minutes of your time could really help with this important research to help get earlier pathways to diagnosis.

The Addenbrooke's CUH research team working with Dr Robert Smyth is looking into developing a screening tool to help identify young patients with a higher risk of retinal detachment and potential blindness. But sufficient data is always a critical part of any research so we need more people to come forward and help with this initiative.

What does it involve? Just send an email to contact@stickler.org.uk and we'll send you a Participation Info sheet and a link to the online survey. It's that simple and straightforward and all fully GDPR compliant.

Here's a bit of background with Dr Robert Smyth's presentation from the 2024 Conference.

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RESULTS OF THE RECENT SURVEY...

A massive "Thank you" to everyone who took part in the recent Stickler Syndrome UK survey on prioritising the charity's objectives. There was a great response and lots a really positive suggestions and feedback to digest.

The full details of the survey results appeared in the July 2025 edition of the charity's 'Briefs' e-Newsletter, so if you haven't already subscribed to 'Briefs' (on this page) keep a close watch on future editions and the social media channels as we start to turn those results into actions.

WHAT WERE THE TOP THREE SELECTED PRIORITIES?...

1. Raising awareness among the medical professionals and allied healthcare professionals across the UK to aid earliest diagnosis

2. Assisting with continued research across all symptoms

3. Wellbeing and mental health support for all ages ‍‍

WE'RE SEEKING OUT SOME TRUE-LIFE STORIES...
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So many of us have a story to tell about living with Stickler Syndrome. This might be about the harsh reality of discovering diagnosis, or it might be about the diagnosis process itself.

What is it like for parents, how it affects children in early years and through education, getting DNA tested, the number of procedures that people have been through on different symptoms? This is where you come in because we need your input and help with some true-life stories.

The charity is putting together a number of video clips and photographs to start to help with the 'Awareness' programme that begins from late Autumn of this year, but we need your stories.

These will be compiled and shared for your approval for inclusion before we use anything... and we'll be very clear about who we'll share the compilations with. You can even remain anonymous if you prefer.

In the first instance, we're asking you to email the charity at the main email address: contact@stickler.org.uk to make a note that you might be able to help us with some of the content that we're trying to build.

"Thank you" in advance for your positive responses.
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WHAT WERE THE TOP THREE SELECTED PRIORITIES FROM THE CHARITY'S RECENT ONLINE SURVEY?...

1. Raising awareness among the medical professionals and allied healthcare professionals across the UK to aid earliest diagnosis

2. Assisting with continued research across all symptoms

3. Wellbeing and mental health support for all ages

Of course this doesn't mean the charity won't be working on anything else, it just means that we'll be working hard to keep a focus on the ones that could make the biggest difference to us all.

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FOLLOW, FOLLOW, FOLLOW...

To date we have 842 followers on the charity's Facebook page and 60 subscribers to the charity's YouTube channel. A massive "Thank you" to all our followers and subscribers.

Every additional follower/subscriber that we can get will greatly improve our chances of securing sponsorship and funding for important projects, building awareness, aiding research, and being able to provide support across the UK and EIRE.

So we're reaching out for you to not only follow and subscribe where you can, but also to get family members and friends to help us get these numbers as high as we can.

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