We are proud to be media partners for this important event in the rare disease calendar.

‘Zebra Strutters’ is our Rare Disease Segment of the organisation and was originally added, in 2019/20 as an advocacy arm to ‘FibroFlutters’ our organisation for chronic illnesses since 2014. Earlier this year we made the decision to co-join them under the umbrella of Flutters and Strutters.

_{In our community}

There are a number of our Facebook closed group community members with rare diseases, ultra rare diseases and undetermined conditions. Our co-founder, Vicky Green, has Pigmented Villonodular Synovitis (PVNS) and Hypermobility Ehler’s Danlos Syndrome. We have recently had another member of our closed Facebook community join with the same Ultra rare condition PVNS. There are also people with varying other conditions including Slipping Rib Syndrome, Palindromic Syndrome, and Ehler’s Danlos Syndrome. We also have members with Cowden’s Syndrome and Ataxia.

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Alan Thomas who lives with Ataxia and one of our Trustees is Founder of Ataxia and Me

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Of course within our global network, across social media channels, there are many people and families with many other rare diseases. It is important for us all to support one another and we all endeavour to do that. #StrongerTogether #StrutYourStripes

As an organisation supporting research and development of new therapies is very important as a whole, but more so for rare diseases. If people don’t participate in trials new drugs and therapies can’t be developed. Advocacy is essential.

Campaigning and advocating for multi-disciplined approaches to how our healthcare and conditions are managed is at the forefront of our desires. For both those with rare diseases, and those with multiple chronic conditions, and those who are classed as complex patients. Supporting the need for better education, improved patient engagement practices, easier methods of communication through written and spoken language are just as important.

_{Rare cancers}

There are many people within our global network who are affected by rare cancers too. Families and patients racing against the clock to find treatments, clinical trials, early access programs and much needed support.

As a family we felt it at a personal level

Last year my mum’s husband, Arnold, was diagnosed with Mesothelioma an industrial disease caused by asbestos and it is a rare cancer. As a family and with friends and connections this news hit us all very hard. A disease with no cure, and very life limiting. Knowing what it feels like when someone you care deeply for is diagnosed with something like this makes you drive harder for better systems for rare diseases. Arnold was looked after, even given treatment choices and well supported throughout his difficult journey. He even got onto a trial for immunotherapy, but treatments were not easy, many problems ensued and in the end it didn’t really help. He then moved onto chemotherapy. He lost his battle in the Spring this year. The good ones always go early! But they’re never forgotten…

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PVNS check this out – https://www.ouh.nhs.uk/patient-guide/leaflets/files/12241PPVNS.pdf

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_{Not quite rare disease}

Some of us, including myself, don’t have a rare disease per-se, but are classed as ‘rare’ to a point that we have rare anomalies and are classed as complex cases. In my instance I have a variety of musculoskeletal conditions that when when viewed as a group make me complex and rare. These conditions include Spina Bifida Occulta (SBO) and The Rare 6th Vertebrae (extra tailbone) combined with mild Scoliosis of the spine. SBO was once considered rare but isn’t anymore. However, when combined with the extra tailbone it is a rarity. I also have Benign Joint Hypermobility Syndrome aka Hypermobility Ehler’s Danlos Syndrome – yet to be verified as there isn’t a specific biomarker yet!

_{Genetics Mutations}

Then there are those of us with rare genetic mutations who still have no idea what that means! Including myself!!

Earlier this year I was fortunate enough, thanks to ARCENSUS, to have my whole genome sequenced. It flagged up two mutations. MYH11 in relation to my Obstructive Defaecation Disorder and bowel related conditions, and TNFRSF13B which I was advised is a very rare mutation and related to autoimmune conditions. I am still trying to pursue further assessments and appointments to find out what these mean regarding chronic and rare diseases.

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Special thanks to CEO & Founder of Arcensus Prof. Dr. Arndt Rolfs and Dr. Skrahina Volha, Senior Director Clinical Programs at Arcensus Diagnostics for their kindness, support and expertise. With their help my journey for answers continues.

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_{Genomics, Whole Genome Sequencing, and genetic testing}

Genomics, Whole Genome Sequencing, and genetic testing are crucial to anyone finding out about their rare! As an organisation we believe that genomics is the future for rare diseases in helping to pursue new medicines, personalised medicines, as well as faster diagnostics. Not just for us in the UK but across the Globe.

What our DNA holds can really help us to progress on our rare journey’s as grown up individuals, and even more so for parents, future parents and families where rare disease, could, or does affect their lives. Of course we support the need for Newborn Screening, but we also support those of us who get diagnosed as adults and also need help and guidance.

_{Mental Health}

Living with chronic and rare conditions often comes hand in hand with mental health issues. Not just for the patients, but for family members and caregivers too. Flutters and Strutters have a mental health community on Facebook as we believe in having some kind of support available. We are not professionals, but we can point members in the right direction for them when needed.

David Ross, who has Cowden’s Syndrome, founded and co-runs a Mental Health group for men with rare disease, also for male caregivers. A place where men can feel comfortable to talk about their experiences. They have a zoom meeting once a month. David is also chief admin of our mental health community and helps out when health and time allow.

When time allows and my health allows I plan to set up a group similar to David’s… but for women!

Both David and myself can only do what we can do so it is not manned 24/7, but if someone reaches out then we do respond.

_{Why we’re proud!}

The aforementioned is why we are proud to be media partners for RAREfest22, and also why we actively support Cambridge Rare Disease Network (CRDN) with monthly donations. We respect the diversity that Rare disease brings to us all. We also see the importance of the work that the CRDN does for families, children, and communities affected by rare disease. Rare disease communities are often tiny so sticking together is essential. The CRDN providing opportunities through events like RAREfest helps to bring the world of rare together for learning and fun.

_{Not long now!}

Not long now until the event and I will be attending with my mum who will be experiencing it for the first time. Can’t wait to catch up with Jo Balfour (Managing Director at Cambridge Rare Disease Network (CRDN), Chris Chinn (Product Development Manager, Bioscientifica), and many others that I have met along the way and not seen, or even met yet in person. It is also a great place to meet new people too.

Wishing you all wellness from Flutter and Strutters

Carole Scrafton, Director, Co-Founder and Patient Advocate

Please come and join us. You can register via this link: https://www.eventbrite.co.uk/e/rarefest22-science-technology-community-arts-tickets-344157302757