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 …
In the most devastating, impossible-to-imagine grief of the death of loved ones – especially your children – it would not be unexpected for a person to turn inwards, away from the …
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 …
Many of us know what it’s like to be questioned intrusively by complete strangers because of our child’s disability – whether it’s their behaviour or an obvious physical difference that’s “wrong”. …
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 …
Beth McCleverty is the columnist today from Genetic Alliance UK Data, from many angles, has been somewhere near the top of the agenda for a while now. Whether the issue …
I was going to start this piece with “As the dust settles after the #Brexit vote…”, but every day the dust seems to get more dense and choking as the enormity …
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 …
I’ve been to a couple of events in the last week or so around Undiagnosed Children’s Day. As going anywhere is quite an effort for me, I wanted to share …
I have three children. All three have an undiagnosed genetic condition. One is a wheelchair user, has feeding tubes, and complex medical needs, one is a bit wobbly on his …
Today is Undiagnosed Children’s Day, a nationwide event aimed at increasing awareness of SWAN or Syndromes Without A Name (also known as an undiagnosed genetic condition). Around 6,000 disabled children are born every …
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 …
I’ve just attended a workshop on Crowdfunding held by the Findacure Foundation. The workshop was specifically aimed at rare disease groups, highlighting the fact that crowdfunding can be used in …
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 …
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 …
