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 needs the green-light to get underway. SNJ is a member organisation of GAUK
There are over 7,000 rare diseases, three-quarters of which affect children. Rare diseases are diverse, with the range and severity of symptoms and impacts differing between conditions and between individuals with the same diagnosis. When emergency medical staff are unaware that a child or young person has a rare disease, lack knowledge of the child’s particular condition or are unaware of the child’s clinical history it can lead to serious problems.
Having a rare disease can place a child at serious risk of unintended harm, for example from unwanted drug interactions or reactions, and ignorance of special considerations relating to the child’s care can prove catastrophic.
Any trip to A&E can be a distressing and anxious time. Children and young people with rare diseases can experience normal childhood accidents and illness which result in them being admitted to A&E, but they may also need emergency care in relation to their rare disease. When a child or young person has a chronic condition, particularly when that condition is rare, there are additional challenges for all concerned.
The emergency care hurdles for rare disease patients and carers
As a parent myself, I’ve spent my fair share of time in children’s A&E. My son was born with a rare disease, my daughter was not. I know first hand that a visit to A&E for a child who has a rare disease does not always prove plain sailing compared to the A&E experience of their unaffected sibling.
For the parent of a child with a rare disease, an A&E visit comes with the added complication and burden of informing emergency staff about a condition that they may never have heard of. Parents of young people who have rare diseases can find themselves reciting their child’s lengthy and potentially complicated clinical history multiple times to different members of staff. This can mean having to explain to paramedics and A&E staff what medical care should and should not be given, as well as explaining what is, and what is not, normal for their child.
On more than one occasion, I have found it difficult to convince staff to follow the advice I had been given by my child’s specialist. Sometimes this was because staff failed to understand that the patient or carer can be as expert as the specialist. On other occasions, staff could not access my son’s medical records or were wary of my advice because it ran contrary to the protocol they would follow if they saw the same symptoms in an unaffected child.
Time does not heal all things
Over my years of parenting, I’ve come to realise that however thoroughly you prepare you simply can’t plan ahead for all eventualities. When my son was 12-years-old and in the care of his teachers on a school trip 400 miles from home, he suddenly became ill and was rushed to hospital by ambulance in the small hours of the morning. He was fortunate to be taken to the emergency department of a major children’s hospital where he received excellent care, but the experience was a traumatic one for us both. From that point on I had a new worry – that of being incapacitated or absent when my child needed emergency care.
My son is now a student living away from home and in a different nation during term time. He is separated geographically from anyone who knows about the implications of his rare disease, including his consultant. Now a young adult, he must advocate for himself. And yet I know that there are scenarios in which young people, including my own son, might be unable to communicate or advocate for themselves with those providing emergency care. The whole situation worries me terribly.
The way forward - rare disease alert card
Is there an answer? Is there a way to give parents and carers peace of mind and support NHS staff in the safe delivery of emergency care for children and young people with a rare disease? Well yes, there is, and it’s a surprisingly simple solution – the introduction of an NHS alert card (or wearable) that is nationally recognised and which all medics are obliged to take seriously.
To mark Rare Disease Day 2019, Baroness Blackwood, then Parliamentary Under–Secretary of State at the Department of Health and Social Care, made a pledge to: ‘give every patient with a rare disease an ‘alert card’, including information about their condition, treatment regime and contact details for the individual expert involved in their care’. Genetic Alliance UK wholeheartedly welcomed this commitment, but a year on from the announcement we are no closer to delivery of the minister’s promise.
Some clinical services and patient groups have already developed alert cards for specific groups of patients. By looking at examples of good practice that have been developed in the UK as well as at nationwide schemes elsewhere, we see clear evidence that alert cards for rare disease patients can save lives. At the very least, when medical staff are aware of a child’s particular needs it can make for an easier experience of emergency care for the parent or carer, the child and for staff.
Have your say
To mark Rare Disease Day 2020, Genetic Alliance UK has published a report on the patient experience of rare disease alert cards that underlines the need for and value of a rare disease alert. You can read our report here
You can add your weight to our call for progress to introduce an NHS rare disease alert card scheme by joining the Rare Disease UK campaign
Reducing the advisory and advocacy burden placed on patients and families seeking emergency medical care from uninformed staff, during what is an already stressful A&E experience, is fundamentally the right thing to do.
Also read
- Ten Top tips for when your child is diagnosed with a rare disease
- The heartache that lives alongside our son’s very rare disease
- The power of pacing: Managing energy with a rare disease or chronic illness
- Partnering with clinicians to reverse Rett, my daughter’s rare disease
- Join the discussions that are connecting the rarest of rare diseases
- 10 tips for geneticists from parents of children with undiagnosed and rare diseases
- The supportive care needs of parents caring for a child with a rare disease
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We are home to Rare Disease UK – the national campaign for people with rare diseases and all who support them – and SWAN UK (syndromes without a name), the only dedicated support network available for families of children and young adults with undiagnosed genetic conditions in the UK.
- Green light urgently needed for #RareDisease Red Alert system - February 29, 2020
- Rare disease research is vital to patients. Now let’s use it to improve services. - February 28, 2017
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