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Rare Disease Day 2023 calls for equity.  But should we be aiming for justice?
 
Today, 28 February, marks the annual global celebration of our rare disease community.   The focus this year is on equity.  There are many graphics to demonstrate the difference between equality and equity.  One of our favourites below takes it a step further towards justice. 

Do you know the difference?

Equality means promoting fairness by treating everyone equally, while equity means promoting fairness by treating people differently, depending on need. 

Justice is fixing the system to provide equal access to tools and opportunity.  Justice is long-term equity.  It looks to create equity in systems as well as individuals.  “Justice can take equity one step further by fixing the systems in a way that leads to long-term, sustainable, equitable access for generations to come.”

Visible, vocal, seen and heard. Care coordination 
Over the last month, CamRARE has been running its annual awareness-raising campaign through our social media channels, helping ensure rare diseases are visible, vocal, seen and heard.  

Care coordination: You said...
The coordination of care features strongly in this year’s Rare Disease Day campaign.  We asked our regional rare community, 'Unique Feet.'  what their challenges were with managing their or their child’s care and if any solutions worked well.  This is what they told us...


One of the key things that many of our #UniqueFeetCam members find frustrating is lack of a holistic approach.

"The big thing we want from care coordination is looking at the whole child and not just their rare disease."

What would holistic care look like for you? 

 "Keeping abreast of the myriad of hospital, community and social care appointments is a full time job" said #UniqueFeetCam member who (like many other parent carers) juggles this extra load on top of regular parenting and work.

Some of our families who attend Cambridge Addenbrookes Hospital use the MyChart app which "is really good for keeping track of all the hospital appointments and letters, but it’s a shame the community services can’t use it as well so everything is in the same place." 

A community member had a very upsetting experience where a therapist didn’t believe their daughter had just spent a week in hospital because the community system was separate from the hospital one and showed no record of this.

“No one person seems to be in charge of my daughter’s care and there's an assumption from all parties that someone else is responsible for other things which then mean they get missed.”

“We have found our specialist nurses (cardiac and respiratory) a lifeline but nothing is particularly joined up, I would love to see a specialist nurse for genetic conditions who could take on the role of being a single point of contact, help signpost and contact other members of your care team.”

“We have found the reliance on telephone and video appointments rather than face-to-face really challenging.”

Whilst we advocate for adoption of technology to save travel, get experts together and save children missing school, it’s not appropriate for everyone and a choice should be offered. Do you agree? 

 A holistic approach is not just about medical care.

“As I feared, there was literally a cliff edge when my child left school. No one takes the time to think about her needs and abilities and support her into work and society.”

Read our report on transition to adult care in rare https://www.camraredisease.org/transitions-to-adult-care-report/

“Community & medical & school based services should be the holistic service they have talked about for years”.....and years!
Today sees the launch of Generic Alliance UK’s report on Care Coordination. This is a culmination of insights from members to demonstrate the value of care coordination and the impact of its absence. Thank you so much to everyone involved who shared their story. 

You can read the report via the button below
Download Genetic Alliance’s new Care Coordination report
 
 Celebrating  Rare Disease Day at our Rare-i-Tea Party

Last week we welcomed 80 families to our Rare Disease Day tea party event, with new faces and old friends having the opportunity to eat cake, delve into activities and play games!    Everyone was welcomed, and the hall buzzed with happiness and joy.

Local charity Power2Inspire joined us to entertain with a range of inclusive indoor sorts, from curling to sit down netball.  We had enormous fun  indulging in craft activities and a range of sensory fun. We made DNA strands from jelly babies and at cake!! The sensory table was packed with children digging into sllime and trying out balance boards, penaut gym balls and venturing into tunnels.

To celebrate our uniqueness we made a beautiful handprint wreath and made rare disease chatterboxes (available to download via the button below) to cut and fold and quiz your friends on RARE facts.

To round off a thoroughly enjoyable day we out our feet up and joined in the new Medics4 Rare Diseases #ShareYourStripes campaign, too, showing off our best stripey socks!

Print your own Rare chatterbox! Test your rare facts knowledge
 
Rare Disease Day with students at Royal Holloway University, London
Yesterday we joined other rare disease advocacy groups in a throng of Yr.11 and Yr.12 students eager to learn about rare diseases and the possibilities for studying genomics and relevant life sciences in the future.  They were treated to lectures by Professor Rafael Yanez-Munoz, Prof of Advanced Therapy, on cell and gene therapies, from Dr Juliette Harris on genetic counselling and Dr Alberto Malerba on gene therapy for Duchenne muscular dystrophy. 

We loved having a huddle of students gathered around our exhibit, indulging in chatterbox making and joining our 'This is Me' handprint activity. It's always exciting to see young people being inspired to consider studies and career pathways which will support our community in the future. 
 
Sharing rare stories for Rare Disease Day
We've been sharing your stories of science, diagnosis, lived experience and treatments for rare disease with the world via our social media channels. on our website and in partnership with the Cambridge Independent newspaper. 

Read our article calling for equity in access to rare disease diagnostics featuring Kate Downes of East Genomics and some of our Unique Feet Cam parents. https://www.cambridgeindependent.co.uk/news/camrare-says-rare-disease-day-promotes-equity-for-all-9298692/

Follow Karen's story of the painful journey to diagnosis and acceptance after her spine collapsed during pregnancy due to a very fare form of osteoporosis, Karen shares the psoititve impact that a correct diagnosis and access to breakthrough treatments can have as she is now under the care of Addenbrookes Hosiptal.   https://www.cambridgeindependent.co.uk/news/addenbrooke-s-unit-is-treating-women-with-very-rare-post-pre-9300782/
Events coming up
Thursday 12 October: Wellcome Genome Campus Cambridge
CamRARE's RAREsummit23

Exciting news!  You can now SAVE the DATE for our biannual RAREsummit, back in person for the first time since 2019.  We can't wait to see you there. Tickets will go on sale in M arch. To get a feel for what's to come, visit our RAREsummit 21 webpage. https://www.camraredisease.org/raresummit-2021-review/

Want to get involved? Email jo@camraredisease.org to ask about sponsorship, exhibition and speaking opportunities. 
6 March, 6-7.30pm: Clare College Cambridge
Reframing Rare Diseases: An educational event about rare disease aimed at medical students and doctors with Medics 4 Rare Diseases

CamRARE trustees Loretta MacInnes and Dr Gemma Chandrtillake will be speaking an inaugural M4RD event in Cambridge.  If you are a medical student or doctor and looking to equip yourslef with the knowledge and tools you need to #DareToThinkRare then join us at this free event.
Tickets at rare-disease-tickets-520296911067
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