Parent Carer. Advocate for improved understanding of ultra rare, often undiagnosed, genetic conditions. Views my own. Also [email protected]

Joined June 2011
"A variant of uncertain significance is a gene variant that sits in the grey area. In other words, it could be causing the condition, but also it might not be." Learn more about variants of uncertain significance in the blog linked here: ow.ly/Prrq50UVrt6
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What happens when I go for whole genome sequencing? Katrina Stone explains 🧬 Tune in to our latest episode where Katrina explains why someone may have whole genome sequencing for a rare condition, in less than 5 minutes. Listen to the episode: ow.ly/PbZl50UpbKf
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We shared this compilation video of parent carer films today, grab a cup of tea and maybe a piece of cake and take a look ... drive.google.com/file/d/12Yx…
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For day 1 of #GenomicsConversation week we're asking 'Are we there yet?' Our friends at @CaS_Genomics have put this question to Lynch Syndrome Clinical Nurse Specialist Caroline Stone: youtube.com/watch?v=Hnf9BMXF…
It's day one of #GenomicsConversationWeek! Today's theme is 'Are we there yet?': Genomics in the NHS, and with this in mind we're looking at developments in cancer diagnosis and treatment with Lynch Syndrome Clinical Nurse Specialist Caroline Stone 🧬 buff.ly/3z5HeBr
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Today sees the launch of the Good Lives Manifesto 2024. The needs and priorities of people with a #LearningDisability should and must be included by their MPs and governments. Share the Good Lives Manifesto and help to make #GoodLives a reality. ➡️tinyurl.com/mr27c84r
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Great to be attending #ECRD2024 online & presenting our poster about @BSMSMedSchool work (funded by @wellcometrust) researching the lived experience of rare disease through arts-based and creative methods, focussing particularly on our co-produced poetry collection, Helix of Love
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Being a parent carer throws something at me that I'm not sure I can navigate or cope with nearly everyday, but then I find a way.
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“We have met the enemy and it is us”: Healthcare professionals as the barrier to health equity for people with intellectual and developmental disability - Miner - Research in Nursing & Health - Wiley Online Library onlinelibrary.wiley.com/doi/…
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Lisa Beaton: Remembering. A poem written for the Helix of Love poetry book, part of the Wellcome funded EPPiGEN project at Brighton and Sussex Medical School. To read more about the project, please visit ow.ly/SauP50QIFoX #RareDiseaseDay @wellcometrust @BSMSMedSchool
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Jo Wright retweeted
Jillian Hastings reads poems inspired by her son who has a rare genetic condition. These are featured in @wellcometrust funded 'Helix of Love', a collection written by parents of children with rare diseases. #RareDiseaseDay More: bit.ly/helix-of-love youtube.com/watch?v=8SrcgX7z…
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Jo Wright retweeted
Lorna Fillingham's poems are inspired by her daughter with a rare genetic condition & feature in @wellcometrust funded 'Helix of Love', a collection that highlights the life of families touched by rare diseases. #RareDiseaseDay 📲 bit.ly/helix-of-love youtube.com/watch?v=0l8EmQMQ…
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Jo Wright retweeted
Alex Davey shares poems inspired by her son and the time around his birth. These are featured in @wellcometrust funded 'Helix of Love', a collection written by parents of children with rare genetic conditions. #RareDiseaseDay More: bit.ly/helix-of-love youtube.com/watch?v=OSvDUJI6…
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Jo Wright retweeted
It's #RareDiseaseDay, a global initiative to raise awareness for people living with a #RareDisease, their families & carers. Today we will share readings of poems from @wellcometrust funded 'Helix of Love', a collection written by parents of children with rare genetic conditions.
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Last chance to register for our #RareDiseaseDay webinar, starting in 45 minutes! Learn more about the patient experience of genomic medicine, with presentations from patient advocates @sadiahaqnawaz and @wright_jo. Register here 👇 buff.ly/3OXUbCs #StoriesBehindTheStats
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Around 1 in 17 people are affected by a rare condition at some point in their life. Read the blog to learn what we mean by ‘rare conditions', how they are caused, and what we can do to treat them. ow.ly/eNKk50QEVhG #RareDiseaseDay #RareConditions
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The councillor who blocked Elissa for highlighting what she said about SEND is deputy leader of Warwickshire Council. Decent people in public service shouldn't face harassment but let's be clear what Elissa did was not harassment it was holding elected officials to account.
Thank you everyone who has shared, commented and complained about the conduct of the Cllrs at the @Warwickshire_CC scrutiny meeting. I've been made aware that Cllr Golby has claimed that the sharing of her comments and the offensive and hurt this has caused is "harassment". She blocked me after I shared my thread so I haven't seen her statement. I have seen no harassment, only shock and hurt. Elected Officials should be held to a high standard. When they fail in their duties, break their code of conduct and cause harm to the people they represent, they should be held to account. This would be the case in any position but it is especially important in politics. It may have been a shock to Cllr Golby to be held to account over her actions. A knee jerk defensive response has followed. She should now reflect on her actions and whether she is the right person to represent her constituents. I hope an apology will follow.
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Jo Wright retweeted
Forgotten about again - unpaid carers
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Jo Wright retweeted
We were delighted to launch Helix of Love, a collection of poems written by parents of children with rare genetic conditions, last month. Hear some of the readings from those involved in the project, funded by @wellcometrust ⤵️ @Ethixbird @SustainableRich youtube.com/watch?v=u8XXpB11…
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Huge thanks to @MichaelSheen for lending his incredible voice to our cause by reading our poem. Your support brings invaluable attention to the fight for reopening Tudor Street Day Centre. Together we can make a difference #SaveTudorStreet #CommunityUnity @AberVoice @BBCWalesNews
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