The AAF conferences get better each year : 2024 was the best ever ! ⁦@AmyandFriends��� ⁦@GSTTnhs⁩ ⁦@GSTT_SpecAmbu⁩ ⁦@EvelinaLondon⁩

Summary ! https://t.co/gW35kcP5MV Staying calm for lift off: it’s only 1.5 km, 120 mph 0-60 mph in 10 secs!

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Velocity zip wire update : we did it with the parents and one of my patients which made it so so special! Incredible support from so many. We have raised over £10K for Amy and Friends so far ! Thank you all so much. @GSTT_SpecAmbu @GSTTnhs @AmyandFriends

Dr Shehla Mohammed, consultant in paediatric clinical genetics, contributed to the Plan. She said: "Since its launch there have been improvements in treatment and awareness of rare conditions, but there is more to be done to support patients with rare and ultra rare disorders.”

Our bespoke Rare Disease Centre enables paediatric, transition and adult patients to be seen by multiple experts ensuring continuity of care, access to therapies and an international collaborative network @GSTTnhs @GSTT_SpecAmbu @EvelinaLondon

A notch up from the abseil down St Thomas but also for a good cause. Thanks for any support you can offer ! @GSTT_SpecAmbu @GSTTnhs @AmyandFriends https://t.co/DMQIw3YXCA

A privilege to be part an amazing group of likeminded clinicians and scientists working in a true collegiate spirit to get the best outcomes for the patients we look after @GSTTnhs @EvelinaLondon

This award recognises their exceptional skills, knowledge and expertise and the central role of nurses in the development of innovative services that improve co-ordinated care for those with rare and ultra rare diseases. @AmyandFriends @GeneticAll_UK

Huge congratulations to Paula Sullivan and Phillipa Sellar, nurse practitioners in our Rare Diseases Centre, who have been awarded the prestigious title of Queen’s Nurse from the Queen’s Nursing Institute.@GSTTnhs @GSTT_SpecAmbu @EvelinaLondon @NHSEngland

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With over a 100 attendees from 13 countries we had a very informative weekend of talks & workshops leading to many new and innovative collaborations

We discussed our approach to a be-spoke management plan for patients and the key role of a dedicated specialist nursing team as well as clinical observations and challenges at Year 1 whilst reflecting on future plans.

It was an honour to be invited to the recent Bloom Syndrome Patient & Family Conference in Frankfurt. The UK Blooms RDCN highlighted role of the specialist MDT clinics in the development of integrated care pathways @GSTTnhs @GSTT_SpecAmbu @EvelinaLondon

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Thank you @bbs__uk for another inspiring conference underpinning the power of collaboration & advocacy with unique personal insights & updates from leading experts in the field, @PhilBeales @GeneDrElizabeth, Dr ADrack,@GSTTnhs @GSTT_SpecAmbu @NHSEngland

Waving hi to our over 200 conference attendees, soon joining us virtually today from 25 countries around the world! We are thrilled to have each of you as a part of our #BardetBiedlSyndrome community. Together, we can offer support to BBS patients worldwide. #BBSUKConference2024

Delighted to have contributed to this landmark therapy with the pivotal support of @bbs__uk.The National BBS clinical teams are now working with NHSE on an implementation plan in the UK @GeneDrElizabeth @PhilBeales @GSTTresearch @KathSparks1 @GSTT_SpecAmbu

📢 Are you living with skeletal dysplasia, musculoskeletal conditions, or specific childhood cancers? Have your say and help shape future treatments and management strategies! The survey will take 30 mins to complete and closes on 30th April. 👇 https://t.co/PHGJoxjiqG.

A kind, highly experienced clinician and a superb diagnostician defining the future of genetics @melitairving the topic of your next talk could be : “Clinical Trials : ask me anything” @EvelinaLondon @GSTT_SpecAmbu @GSTTresearch