The power of pacing: Managing energy with a rare disease or chronic illness
It’s Rare Disease Day, something we traditionally mark, with both Renata’s and my own family being affected by rare conditions and all that it brings. This year I want to …
Search Results for: rare disease
Partnering with clinicians to reverse Rett, my daughter’s rare disease
“Did you say ‘Retz Syndrome’? How do you spell it?” These were the questions I asked the neurologist who speculated in passing that this might be the explanation for why …
Act now to protect the NHS funding of rare disease medicines like Ava’s
Having a child with rare disease can mean that you are given very little information about their condition. Parent carers find themselves becoming the expert, rather than the professionals who are …
Rare disease research is vital to patients. Now let’s use it to improve services.
Rosie Collington of Rare Disease UK writes… The UK has a reputation internationally as a leader in rare disease research. Over the past few months at Rare Disease UK, we’ve …
The heartache that lives alongside our son’s very rare disease
Rare Disease Day is almost upon us and we have the third of our parent posts today about their lives with their child who has a very rare condition. We …
Amplify your experience of rare disease with Rare Barometer Voices
When there are few specialists and no medical pathways to help your child’s condition, you can feel like a pinprick in the priority of health care services. But your loved-one’s health is just as important …
Join the discussions that are connecting the rarest of rare diseases
I’ve written on SNJ before about how the online community I help to manage, RareConnect, works to bring together families facing the challenge of living with rare disease. We now have …
Showcasing Rare Diseases in Birmingham
A shout-out for a an event for rare disease patient groups and for professionals interested in the field. Findacure Midlands Networking Event On 22nd of October, Birmingham Children Hospital is hosting …
The rare disease game-changers showing how SEND co-production can work
Last week I attended the European Conference on Rare Disease being held in Edinburgh*. It was three days of listening to presentations about developments in rare disease research and medicines and …
GAUK Rare Disease columns
The Great Christmas Giveaway 2023 for SEND families and SENCOs. NOMINATE NOW! It’s HERE! Today we’re launching our Christmas GIVEAWAY — to donate Amazon vouchers worth £20 each to families …
Ten Top tips for when your child is diagnosed with a rare disease
Where were you when you you were told that your child had a medical diagnosis? Like many major events in the world and in our own lives, that point in …
Birmingham Children’s Hospital puts the fun in fundraising in its fabulous Rare Disease Day event!
I had a brilliant time in Birmingham yesterday at the Children’s Hospital where they held a vibrant and fun-filled Rare Disease Day event. Roald Dahl’s Marvellous Children’s Charity was out …
Rare Disease Day: Hear our voice to help meet our needs
Monday 29th February 2016 is quite aptly named Rare Disease Day – as a leap year it’s the rarest day of the year. Around the world, people will be coming …
Birmingham Children’s Hospital leads the way with the UK’s first holistic paediatric Rare Disease Centre
How many of us spend significant amounts of our time taking our children to medical appointments, often many miles from home? Often several appointments at the same clinic are staggered …
The Rare Reality: An insight into the patient and family experience of living with a rare disease
Specialised help and services for children and adults with rare or undiagnosed conditions has always been hard to find – or non-existent – and often, parent carers and patients themselves …
The mum whose photography project is focusing on children with rare disease
When your child has a very rare condition it’s hard not only to find specialists and the right treatment but also to find others who understand your experience. Ceridwen Hughes’s …
Our new Rare Disease columnist asks you to help get MPs interested in genetic conditions
Tania’s note: We’re delighted to introduce Genetic Alliance UK as our new columnist for rare disease, genetic and undiagnosed conditions. Genetic Alliance UK is the national charity working to improve …
10 tips for geneticists from parents of children with undiagnosed and rare diseases
One of the biggest problems experienced by parents of children with long-term medical conditions is communicating and maintaining relationships with medical professionals. When the child has a rare disease or …
How Jonah’s parents are connecting families with his rare disease -and how you can too
As an online manager of international patient communities for many different rare diseases, I receive emails every day from parents and affected people looking for help and information about their …