CMTUK

Not long now until our CMT Big Kids Weekend 🥳

We’re so excited and there are only a few spaces remaining - so get booked in now!

If you’re a young adult (18-30ish) with CMT, come and join us for a weekend full of climbing, canoeing, caving, archery, abseiling, laughs and chats with people who get exactly what you are going through!

20th - 23rd September, in the beautiful Lake District

The total cost to join us is a minimum £150 donation, and due to the high demand a non refundable deposit of £50 is required to reserve your spot

The deadline for getting your final payment in the 15th August, 2024 - don’t forget to include your name in the bank reference ⏰

Send us a message to book your place, or for more information! We can’t wait 🤩

The Trustees and Staff of CMTUK (only missing Lisa Yeates!). Left to Right we have Pete Kraushaar, Karin Rodgers, Vicky Thorpe, Thomas Henderson, Sophie Arnold, Simon Bull, Anton James, Kim Shires and Denise James.

Anyone in the Gloucester area on Friday 14th June 2024 between 9.30am to 2.30pm. Come and see CMTUK for The Big Health Day at Oxstalls Sports Park, Plock Court, Tewkesbury Road, Gloucester, GL2 9DW

As part of Carers Week 2024, the Big Health Day is hosting various Carer support organisations as part of the event.

Here's a link to a video giving a taste of CMTUK Conference 2024

CMTUK Conference 2024 Highlights A taste of CMTUK Conference 2024 held at Stratford Manor Hotel.

📣Deadline today! ⏰

At CMTUK, we may be small, but our impact is mighty! 💪 Join our tight-knit team and help us make a difference in the lives of those living with Charcot Marie Tooth disease.

If you're passionate about supporting individuals with physical disabilities, apply now for our Administrator/Communications Coordinator role: https://www.cmt.org.uk/administrator-communications-coordinator/

🏢 Office based, with occasional work from home (the CMTUK office is located in Christchurch, Dorset)

We're not just a charity; we're a family! ❤️ That feels especially prominent today after our first in-person conference since the pandemic, seeing familiar faces and being in the room together again.

Join our close-knit community and provide personalised support to individuals with CMT. If you're empathetic, compassionate, and ready to make a meaningful difference, apply now:
https://www.cmt.org.uk/administrator-communications-coordinator/

🏢 Office based, with occasional work from home (the CMTUK office is located in Christchurch, Dorset)

What a brilliant conference! It was lovely to be in person again for the AGM and conference day for the first time since the pandemic. Thank you to everyone who came to along to the event at Stratford Manor hotel, thank you to our hard-working CMT team, the speakers, trustees and of course all our delegates. It was brilliant to have you all and a huge thank you to our event sponsor . The speeches will be going up on our YouTube soon, so if you missed out on the conference today don't worry , you'll be able to view these online. Keep your eye on social media for more updates

Are you skilled in communications and administration? 📝 We're seeking a detail-oriented individual to support our regional support groups, manage our social media presence, and assist in fundraising efforts. If you're ready to take on a dynamic role, apply by April 30th:
https://www.cmt.org.uk/administrator-communications-coordinator/

Or maybe you know someone perfect for the role, please share and help us spread the word!

🏢 Office based, with occasional work from home (the CMTUK office is located in Christchurch, Dorset)

We're hiring!

Join our passionate team at CMTUK as an Administrator/Communications Coordinator! 🌟

If you're ready to make a difference and raise awareness for Charcot Marie Tooth disease, this part-time opportunity could be perfect for you.
Or maybe you know someone perfect for the role, please share and help us spread the word!

Apply now:
https://www.cmt.org.uk/administrator-communications-co

🏢 Office based, with occasional work from home (the CMTUK office is located in Christchurch, Dorset)

📰 Latest Issue: Unveiling Nathan Flay's Story -

📰 Latest Issue: Unveiling Nathan Flay's Story We genuinely value your unique perspective and invite you to share your thoughts, recommendations, anecdotes, verses, and advice. Whether it's a serious topic or just a lighthearted contribution, we eagerly anticipate incorporating your input into our future issues.

Fundraiser: Half Marathon in memory of Cynthia Taylor

We are about to embark on our first half marathon on 31st March 2024. We thought as we are running 26 miles between us we’d raise money for a worthy charity.

Our beloved nan, Cynthia Taylor passed away in December 2023 and it only feels right to raise money for a charity close to our hearts.

Nan had Charcot-Marie-Tooth, a rare and progressive genetic neurological disorder. Nan was a strong woman who rarely moaned about her disabilities or the limits CMT gave her, but further research could help change this for others living with the condition.

Both of us work in healthcare- Amy a nurse, Olivia a biomedical scientist, and understand the importance of Charity work and funds donated.

If you would like to make a donation please visit https://gofund.me/fdb24539

Thank you in advance for reading and your contribution to this cause that means so much to us and our family.

Olivia and Amy

In memory of our Nan for Charcot-Marie-Tooth, organized by Olivia Moon As you may know already, we are to embark on our first half marathon on 31st … Olivia Moon needs your support for In memory of our Nan for Charcot-Marie-Tooth

Welcome and thank you to Elizabeth A. for signing up to support us by shopping online through easyfundraising, it really makes a difference.

Please sign up too, it's easy and completely FREE! 8,100 brands will donate to us when you do your usual online shopping with them - at no extra cost to you!

You shop. Charcot-Marie-Tooth UK gets money. For free. Help us when you shop with 7,000+ brands. Join now.

You all absolutely dazzled us with your support for Rare! 💫

Your participation in our Global Chain of Lights not only illuminated the world but also spread awareness for the 300 million people living with a rare disease! 🌍 Thank you from the bottom of our hearts for shining your light brightly alongside us.

Next week, we'll be dropping a video showcasing some of the most brilliant captured during the campaign! 📹✨ Don’t hesitate to send us your pictures or video at [email protected].

Let's continue to advocate, share our colours, and stand in solidarity for an equitable society for the rare disease community. Together, we can make a difference! 💪

CMTUK Conference 2024: Sponsor Profile

Dorset Orthopaedic is One of the UK’s leading providers of private prosthetic and orthotic rehabilitation across a network of nationwide clinics. Here at Dorset Orthopaedic, we have been empowering people to strive for better for over 30 years.

As an independent provider of prosthetic, orthotic, silicone, and rehabilitation services, we pride ourselves in providing total rehabilitation for our patients. It's this bespoke service and attention to detail that has gained us our reputation for quality and personalised service for almost 30 years.

For further details, please visit www.dorset-ortho.com

Please share this post for Rare Disease Day. We are proud to be featured in Genetic Alliance UK's new report, The Stats Behind The Stories, together with alliance member HBA Support and coproduction group member Rhys.

Genetic Alliance UK HBA Support The Neurological Alliance

On we join Genetic Alliance UK in calling for:
⌛️faster diagnosis
🔗better coordinated care
⚕️more awareness among healthcare professionals
💉improved access to specialist care and treatment for people affected by rare conditions, inc. rare neuro conditions

The report argues that we need to segment and better understand UK data about who has rare conditions, and which rare conditions they have, so that the NHS can provide the right services and support.

Alliance CEO Georgina Carr asks "Will rare conditions be a priority for integrated care systems?" as commissioning for most neurological services shift to ICS level.

Alliance member HBA Support describes absence of comprehensive data on neuro condition familial brain aneurysms, and the urgent need for awareness and improved data collection.

Coproduction group member Rhys describes his slow diagnosis of , a consequence of surgery for a childhood .

Early detection could have prevented or slowed progression of the condition, limiting the damage that Rhys lives with. An earlier link between his health challenges and his surgical history could have made the diagnosis sooner.

Read the full report

https://bit.ly/3SPPSKI

Today is Rare Disease Day 2024, Thursday 29th February. It is rarer than rare as the 29th only comes round every 4 years!

A special thank you to those who have sent in a photo of themselves proudly holding their I Support Rare Disease Day 2024 poster.

Thank you to everyone has liked and shared our social media posts during February.

🚨 IT'S OFFICIALLY RARE DISEASE DAY ACROSS THE GLOBE 🚨

Join us in marking Rare Disease Day 2024 now that it's finally here! Let's unite in solidarity with the millions worldwide living with rare diseases. 🌍 Spread awareness, share stories, and show support for them.

Together, we can make a lasting impact and shine a light on these often overlooked!

Let's make today count by raising awareness and advocating for those who need it most. Every voice matters in the fight for understanding and support.

Visit our website to find out more:https://www.rarediseaseday.org/

EUROPEAN MEDALLIST MICHAEL MURPHY IS THE IRISH FIELD DRESSAGE RIDER OF THE YEAR 2023

27th February 2024

European medallist Michael Murphy was presented with 2023 The Irish Field Dressage Rider of the Year award by Mark Costello the editor of The Irish Field at the The Irish Horse World Awards lunch in the Palmer North Golf Club, The K Club, Straffan, Co. Kildare, Ireland today [Tuesday, February 27, 2024]. He is only the second para dressage rider to win the award since the 2012 winner, London Paralympian medallist Helen Kearney.

"I want to thank The Irish Field for this award." said Murphy "Cleverboy has had a good winter. It is a really exciting year for us and we will start our season in two weeks." Michael thanked his mother Sue for her wonderful support and described her as "incredible".

Murphy added to his championship medal collection when winning the individual silver at the FEI Para Dressage European Championships in Riesenbeck, Germany in September 2023. Ireland’s Grade I para dressage rider and double world bronze medallist scored 79.887% with the sixteen-year-old KWPN Vivaldi gelding Cleverboy for a Freestyle podium finish.

Michael started his 2023 international campaign with a hat-trick at the three-star show in Addington, Great Britain in March, scoring 75.375% to win the Grand Prix A class, 78.333% for Grand Prix B honours and 81.087% for first place in the Freestyle. At Kronenberg, The Netherlands in June, Murphy placed second behind world number one rider Rihard Snikus in the Grand Prix B class in on a 73.542% total. The following month he scored 80.020% to win the Freestyle at Hartpury in Great Britain. With the Paralympic Games in Paris on the horizon for Michael, he will be looking to join Joan Salmon and Helen Kearney on the Irish individual equestrian paralympic medal roll of honour.

Olympian Anna Merveldt, who qualified Ireland for an individual dressage place at the 2024 Paris Olympic Games, was presented with her The Irish Field/Gain Equine Nutrition Star of the Month Award for March 2023.

The other award winners are as follows:-

The Irish Field Senior Show Jumper of the Year 2023 - Daniel Coyle

The Irish Field Senior Event Rider of the Year 2023 - Austin O'Connor

The Irish Field Young Show Jumper of the Year 2023 - Seamus Hughes Kennedy - Showjumper

The Irish Field Young Event Rider of the Year 2023 - Alannah Kelly

The Irish Field/Gain Equine Nutrition Star of the Year Award 2023 - Austin O'Connor Eventing

Previous winners of The Irish Field Dressage Rider of the Year Award (first awarded in 1997) are as follows:-

1997 - Yvette Truesdale

1998 - Heike Holstein (1)

1999 - Katy Price

2000 - Anna Merveldt (1)

2001 - Anna Merveldt (2)

2002 - Anna Merveldt (3)

2003 - Heike Holstein (2)

2004 - Anna Merveldt (4)

2005 - Heike Holstein (3)

2006 - Anna Merveldt (5)

2007 - Heike Holstein (4)

2008 - Judy Reynolds (1)

2009 - Anna Merveldt (6)

2010 - Anna Medveldt (7)

2011 - Anna Merveldt 8

2012 - Helen Kearney

2013 - Roland Tong

2014 - Judy Reynolds (2)

2015 - Judy Reynolds (3)

2016 - Judy Reynolds (4)

2017 - Judy Reynolds (5)

2018 - Judy Reynolds (6)

2019 - Judy Reynolds (7)

2020 - Kate Dwyer

2021 - Heike Holstein (5)

2022 - Abi Lyle

2023 - Michael Murphy

ENDS

Michael Murphy Dressage Para Equestrian Ireland Charity Dressage Ireland Lusitano Esporim MVL Lorli Higgins Horse Sport Ireland ☘🐴☘🐴☘

Genetic Alliance UK Rare Disease Day

Pharnext provides an update on the ongoing analysis of data from pivotal Phase III study (PREMIER trial) of PXT3003, its drug candidate in Charcot-Marie-Tooth disease type 1A (CMT1A).

Read our press release: https://bit.ly/3wxv1o9

Pharnext fait un point d’étape sur l’analyse en cours des données de l'essai pivot de Phase III (essai PREMIER) de PXT3003, son candidat médicament dans la maladie de Charcot-Marie-Tooth de type 1A (CMT1A).

Lire notre communiqué : https://bit.ly/3UYproK

Rare Disease Day is the opportunity to advocate for rare diseases as a human rights priority at local, national and international level as we work towards a more inclusive society.
ACMT Rete per la Charcot Marie Tooth Asociația Charcot Marie Tooth Romania Associazione Italiana Charcot Marie Tooth OdV CMT-Austria CMT-France CMTUK Deutsche Gesellschaft für Muskelkranke e.V. DGM Asociația Neuro Move CMT Progetto Mitofusina 2 Spierziekten.nl/ouders - Spierziekten Nederland Spierziekten Vlaanderen vzw WonderFlora & CMT Alapítvány Federación ASEM El Motor de tus Pasos Společnost C-M-T C.M.T Association Israel China Cmt Hereditary Neuropathy Foundation Ganglion Skopje Charcot-Marie-Tooth Association CMT Research Foundation Cmt Spain

For 2024 we at Genetic Alliance UK are highlighting that although rare conditions are individually rare they are collectively common, affecting 3.5 million people in the UK.

We want to share the statistics, but also tell the stories of the people behind them.

Our theme this year is amplified by working with @‌ITNBusiness to create a news-style programme, raising awareness of statistics among the public and healthcare professionals, and sharing some of the stories behind the statistics.

Alongside this, we will launch a report, turning our theme and approach on its head by exploring the statistics behind the stories. Look out for both on our brand new website!

Genetic Alliance UK

Rare Disease Day Official Video!

Available in more than 60 languages, this video shines a light on and embodies the diverse experiences of 300 million people living with a rare disease across the world.

Let's unite and amplify our message together.

Rare Disease Day Official Video 2024 Rare Disease Day 2024 shines a light on the global and diverse community of over 300 million people living with a rare disease and their families. Learn more...

You spend, brands donate to Charcot-Marie-Tooth UK. Help us when you shop with 7,000+ brands. Join now.

Nominate CMTUK for £1,000, using our charity number 1112370

Nominate a charity - Movement for Good Nominate a charity for a Movement for Good award now.

Fundraiser: Ironman Triathlon challenge raising funds for CMTUK

March marks 2 years since my 6 year old granddaughter Lexi was diagnosed with Motor and Sensory neuropathy (otherwise known as Charcot Marie Tooth or CMT for short). It is a degenerative condition that damages peripheral nerves, causing slow but progressive muscle weakness in the legs, feet, arms & hands. Muscle wastage, joint pain, reduced sensation of extremities & impacted mobility can transpire in later life. Currently, there is no approved cure.

On 22nd September 2024 I am taking part in a full Ironman Triathlon challenge in Pembrokeshire, Wales. This will involve a 2.4 mile open ocean swim in the seaside town of Tenby (the equivalent of 154 lengths of a standard swimming pool, excluding the current), immediately followed by a 112 mile bike course with steep inclines (8,000 ft elevation gain in total) through the Pembrokeshire Coast National Park and running a hilly marathon (26.2 miles) in succession as I push myself to the finish line; all with a time limit of 17 hours. This is considered to be one of the most difficult one day sporting events in the world. Not only would this be a huge personal achievement, it would also help to fund vital research for a disease that could restore independence and quality of life for sufferers.

As an ordinary 58 year old man with little athletic background, I will require a hard training plan over the next 9 months in order to prepare myself for such a physically demanding challenge. I have already begun training alongside my son who serves in the military (who will also be taking part) by partaking in long distance runs & bike rides and improving my fitness in water (documented on Strava); gradually building up my stamina and endurance as the event nears. All of this while working a full time job.

If you would like to donate please visit:
https://www.justgiving.com/crowdfunding/alan-newham?utm_term=GqXvRNMWY

Thank You, Alan Newham

Help raise £1000 to Support CMTUK Weʼre raising money to Support CMTUK. Support this JustGiving Crowdfunding Page.

Did you know that the majority of rare genetic diseases begin in childhood? Early diagnosis and awareness are key. These conditions, often overlooked, can have a profound impact on a child’s life.🧬

This Rare Disease Day, let's raise collectively raise awareness and advocate for those affected by these genetic diseases who need a voice!

Participate in our social media campaign by sharing stories, using the hashtag , and encouraging your family and friends to join the cause!🌟

For more infographics and resources, soon to be translated in multiple languages visit our website at: https://www.rarediseaseday.org/downloads/