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 …
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How our daughter benefits when rare disease groups collaborate
To highlight Rare Disease Day on 28th February, we’re featuring some personal stories from parents whose children live with rare conditions. Today, our friend Steph Nimmo, from the “Was This …
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 …
Why online help is vital for people living with a rare disease you can only smell
We hear a lot about “invisible illness” and how young people with autism are judged or stared at because of their behavior. But what if your teenager’s illness meant they …
Our son’s rare disease sparked a search for answers- and support
Tania writes: I am often contacted by desperate parents searching for help with finding the special needs solutions for their children. It’s something that Helen never imagined herself having to do. …
Rare Disease Day: My son has Retinopathy of Prematurity
Today, 28th February is Rare Disease Day. It’s an awareness raising day for the millions of people around the world who are affected by rare conditions. Most suffer from lack …
Rare Disease Day: How Dan’s rare disease didn’t stop his mainstream education
Rare Disease Day is at the end of February, with the theme ‘Disorders without Borders’. In Europe it’s coordinated by EURORDIS, the European Rare Diseases Organisation. Many children have special …
Green light urgently needed for #RareDisease Red Alert system
SNJ note: It’s #RareDiseaseDay around the world. Today, CEO of Genetic Alliance UK, Jayne Spink, talks about a new “red alert” system that can help thousands of people. But it …
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 …
#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 …
RareConnect
Living with a rare disease can be an isolating experience. RareConnect was created byEURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders) to provide a safe space …
Tilly’s “tried on” lots of diagnoses, but none fit her mystery ultra-rare condition
Happy Undiagnosed Children’s Day! Did you know that around 6,000 children are born in the UK each year with a syndrome without a name – a genetic condition so rare …
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 …
A 16 year quest to diagnose our rare bendy daughter
It’s often difficult to cope and find support when your child has an uncommon or rare condition. Often, there is little understanding by the GP and no more than that …
Supporting a child with Addison’s Disease at school
In October 2016, I attended the Cambridge Rare Disease Network Summit 2016 with Tania. It was very thought-provoking and listening to families’ stories, about gaining a diagnosis for their child …
The high costs of living with a disability, especially if it’s rare
I don’t need to tell regular readers of this blog that dealing with the symptoms of the condition that affects you or your child is often only half the battle. …