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 …
Category: Rare Disease
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. …
#CRDN2016 Looking to the future where patients and carers are always involved in their care
I spent yesterday in Cambridge at the Cambridge Rare Disease Network Summit 2016. CDRN is run by the amazing Kay Parkinson, who lost her two children to Allström syndrome, whose moving and …
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 …
The advocate leading a summit to make patient and medical collaboration less ‘rare’
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 …
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 …
What’s WRONG with her? A rare special needs parent’s dilemma
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”. …
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 …
Who’s using your family’s health data and how secure is it?
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 …
How will #Brexit affect children and young people with Disabilities?
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 …
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 …
Undiagnosed and raising awareness to patients, professionals and parliament
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 …
My #Undiagnosed Day video to say thanks to those who get care right.
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 …
My SWAN journey from denial to motivation with my undiagnosed son
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 …
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 …