Steph’s chronicle of her family’s journey through SEND, cancer and loss
Renata and I first met Steph Nimmo back in 2013 at the Department for Education when a group of SEND bloggers were invited to speak to then SEND Minister, Ed Timpson. …
Category: Health
How I became a better child physio after parenting my sick newborn
We love sharing good practice with you that can help both parents and professionals offer improve the lives of children with disabilities. Andrea Selly, is the mum of twins and …
Irlen syndrome: a screener’s perspective
Back in 2012, we ran a parent story about her son’s difficulties, “When the words move by themselves – it could be Visual Stress.” It’s also known as Irlen syndrome and …
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 …
Speech, language and communication needs: have your say and help change the future
We’ve covered the Bercow: Ten Years On review last year, when Barney looked at its recommendations a decade ago and what became of them. Today, we are really pleased to have …
Act now to protect the NHS funding of rare disease medicines like Ava’s
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 …
What’s in a name: Ehlers-Danlos Syndrome gets an important makeover
It’s rare for a medical condition to have its sub-types reclassified. It happened to autism a couple of years ago and there was uproar as people were worried they would …
Rare disease research is vital to patients. Now let’s use it to improve services.
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 …
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 …
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 …
Tips for talking to children with language difficulties about their school day
I always like to try and talk to my son about what he has done at school that day. His normal response is “things and stuff”, unless something very specific …
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 …
Can you help harness parental knowledge about genetic intellectual disability?
When I was at the Cambridge Rare Disease Network Summit the other week, I saw a very interesting presentation that has something of interest for every family of a 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 …
Review: Building Language Using Lego Bricks
Elizabeth and I were recently contacted by Jessica Kingsley publishers, asking us to review a new book. When I saw that the subject of the book was Lego and language …
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 …