Parent Carer. Advocate for improved understanding of ultra rare, often undiagnosed, genetic conditions. Views my own. Also [email protected]
Joined June 2011
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Pinned Tweet
A video for #undiagnosedchildrensday by Megan aged 10. #genomics #genomicsedu #patientvoice #expertbyexperience #disability #foreveryone @SWAN_UK @genomicsedu @GenomicsEngland
Revise and expand the RSV vaccine programme for vulnerable adults - Sign the Petition! c.org/CtmCWbWvSN via @UKChange
Jo Wright retweeted
"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
ALT Multi-coloured DNA molecule with a magnifying glass over the top of it. Inside the magnifying glass is a blue question mark. Pink text above the graphic reads "Genomics 101: What is a variant of uncertain significance?". Light blue tab in the top right hand corner reads "Genomics 101", indicating the blog type.
Jo Wright retweeted
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
Jo Wright retweeted
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…
Another fantastic piece of work from @SustainableRich and @Ethixbird amplifying #raredisease voices in endlessly creative ways. Loved being able to use postcards to share some pretty significant moments, feel heard, and be understood.
New piece by @Ethixbird & I in @SocCultGeog exploring the social and cultural elements of family life with rare disease, thinking what geography can add to discussions, and being a little creative with our methods by inviting reflections from our participants on a postcard!
This was great, and accessible to listen to even for those who are not clinicians 😊
A big thank you to our speakers and everyone who attended last weeks webinar which discussed the genomics behind neurological conditions 🧬
If you were unable to attend, the recording is now live on our YouTube channel, via this link: ow.ly/t91c50TMExy
ALT Blue and black patterned graphic with the title of the webinar: 'What is the value of the National Genomic Research Library for those with neurological conditions?'
Brilliant and impactful. All voices need to be heard in #healthresearch. Big fan of the use of poetry too.
👉🏽 #INVISIBLE out now!
A film exploring why we need more diverse voices involved in health research.
Visit egality.health/be-visible
#BeVisible
Absolutely! Awareness and advocacy for people living with #undiagnosed conditions needs to be high on the agenda of any organisation supporting #rarediseases
Undiagnosed rare diseases are a critical yet often overlooked part of our community and that is why we’re proud to be a member of the Undiagnosed Diseases Network!
It is vital that these peoples’ needs are recognised and addressed as they are an integral part of our community!
ALT Poster for the 13th Conference of Undiagnosed Diseases Network International, 5-7 September, 2024, Seoul Korea. 10th Anniversary of UDNI! Features pictures of famous sites in Seoul.
A 10 year olds account of managing their first day #backtoschool. @bphillipsonMP it's not as black and white as you see it. First we need better #disabilityawareness #autismawareness and a system that properly supports children to attend rather than punish them when they can't.
Pleased to be part of #genomicsconversation week with @CaS_Genomics talking about #undiagnosed #raredisease and the part #genomicmedicine plays
Day 3 of the #GenomicsConversation is all about 'Ticket to ride: The patient journey'. We spoke to @wright_jo to learn about her experiences as a parent carer and why #genomics has played such a vital role in her daughter's healthcare 👇
buff.ly/3VwuqM6
Jo Wright retweeted
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
How can the system work fairly when the SEN team don't respond to phone calls and emails and so the parent can't access the information they need #SEN #transition #equality #education #SENDnationalcrisis
Undoubtedly the biggest challenges come from lack of understanding amongst professionals and underfunded support systems.
It’s #GlobalDayOfParents! 🧑🧑🧒🧒
Did you know? Around 40% of parents of an undiagnosed child meet the description of anxiety and depression.
Learn more about the challenges facing rare parents according to the latest #RareBarometer surveys: eurordis.org/resources/
Jo Wright retweeted
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
ALT An image of the front cover of the Good Lives Manifesto 2024. There is a group of people standing in front of a pale green background with speech bubbles above them.
Jo Wright retweeted
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
Jo Wright retweeted
Learning disabled people excluded from voter registration ad but why?
channel4.com/news/learning-d…
Jo Wright retweeted
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.
ALT A drawing of a slightly worried looking person behind the wheel of a tall ship. They're wearing a sword and hat, perhaps like a pirate. Handwritten text below reads "She found herself captaining a boat she didn't know how to steer"
A thread worth reading. So much diversity in characters and plot not seen elsewhere , opportunities for so many actors and other talented creatives, now lost for good.
🧵Today is the last day of filming @BBCDoctors A show that has run for 24 years, employed thousands of people, produced more than 4,500 episodes, will call ‘cut’ for the final time. As a writer on the show for the past 19 years I’m personally impacted along with hundreds 1/
