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 …
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 …
“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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
Disability and Health Journal This wide-ranging review of studies of parental needs dating between 1990-2014, finds numerous unmet needs for parents with children with rare conditions. These issues range through …
Journal of Pediatric Nursing Rare diseases pose an intimidating challenge for both families and medical professionals: they are inherently subject to shortages of information and medical expertise. Adriana Glenn acknowledges …