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 …
Tag: Eurordis
Abigail’s rare childhood disease that she won’t outgrow
It’s Rare Disease Day this week and evey year we like to highlight the day, on 28th February, by telling you some stories of children and their families who are …
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 …
Finding my son near death started our rare journey to his genetic diagnosis
It’s bad enough when your child has a severe illness, but when you discover it’s a condition few have heard of, the journey to getting them the right treatment gets …
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 …
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 …
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 …
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 …
#RareDisease Day: Impossible situations create remarkable people
Today is Rare Disease Day and during the past week we have been featuring a number of families who have been affected by rare conditions. Even if you’re not especially …
#RareDisease Day: Our daughter’s devastating diagnosis changed every aspect of our lives
Today’s article featuring a family affected by a rare disease brought a strange coincidence. On Wednesday, when I was at the Rare Disease UK reception to mark the yearly Rare Disease …
#RareDisease Day: Our quest for answers for our daughter’s mystery illness
When you have a baby, you expect that raising them will bring some ups and downs. But for Laura Joliffe and her husband Graham, life with their daughter Ava has …
#RareDisease Day infographic and talking parent/patient advocacy
As I’m a fun kind of gal, yesterday I watched the livestream of the #rareEU2015 meeting in Brussels held by EURORDIS, Europe’s rare diseases patient advocacy alliance. Well, listened to …
#RareDisease Day 15: Rare with a twist makes a complex medical mystery
We’re hoping to have a number of posts this week highlighting Rare Disease Day, on 28th February. It’ the 8th year it’s been held and it is important to us …
The pain of finding acceptance with Apert syndrome, a facial difference
We all have a basic need to be accepted by others. As many families affected by a disability know however, not being accepted by peers or being subjected to stares …
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 …
My daughter’s journey with Alström Syndrome
In the wake of Rare Disease Day, the largest ever awareness campaign (now there’s a challenge!) it’s hoped that the spotlight has been well and truly illuminated on the thousands …
Great stories and one huge event
Here’s our personal picks from the past week’s stories. Take a look and add your own
Rare Disease Day 2014: the largest awareness campaign ever, what’s next?
I’ve been involved in the recognition and celebration of Rare Disease Day, which is today, for the past five years. The main objective of the day is to raise awareness …
Rare Disease Day: My nightmare choosing chemo to help my son’s kidney disease
As you know, we’re supporting Rare Disease Day here at SNJ both because it’s very important and also for our own very personal reasons. (See Debs’ story here) (See Tania’s …