A unique pairing of a specialised service in the NHS with a patient charity led to the development of groundbreaking and lifesaving self-advocacy tools that rare disease patients can use to ensure their needs are met. Genetic counsellor, Juliette Harris from the London Ehlers-Danlos Syndromes (EDS) national diagnostic service and colleagues from the charity Annabelle’s Challenge share their insights on this important pairing. A scientific article about their findings can be found here.

Written by

Juliette Harris, genetic counsellor, London Ehlers-Danlos Syndromes (EDS) national diagnostic service and Jacqui Fish, Gemma Hasnaoui, Clare Sadgrove, Jared Griffin, patient advocates for Annabelle’s Challenge Vascular EDS Charity

The EDS service is a highly specialised NHS commissioned service for diagnosing and supporting people with rare genetic types of Ehlers-Danlos Syndromes (EDS). These conditions affect connective tissue and have overlapping features of joint hypermobility, and skin and vascular fragility.  The genetic counsellors and doctors in the service are uniquely positioned to engage with patient charities for example working together with patients and carers of people with vascular EDS on a strategy team.

The strategy team were aware of the challenges that people with rare disease face in the health care setting when so few health care professionals (HCPs) have heard of their condition. However, with more than 7,000 rare diseases, it would be impossible to expect HCPs to be knowledgeable about individual rare diseases.  The team therefore focused instead on identifying new methods of self-advocacy for people with rare disease; tools that people can use to get their needs met and rights respected in health care and beyond.  We sent out a survey to members of the charity to identify the common problems uniquely experienced by people with a rare disease and how they overcome these challenges.  People told us …

“knowledge is power”

“focus on the things you can control as opposed to those that you can’t”

“don’t allow your diagnosis to define you”

“hear other people’s stories, it will give you hope and you will know that you are not alone”

“work in collaboration with your doctor”

Our research identified eight main ways that people can advocate for themselves, and how their HCPs can support them in this respect. Sharing these tools has been a vital turning point in the support Annabelle’s Challenge provides.  For example, the introduction of an emergency resource pack has been life-saving as shown in this feedback “I’d just like to thank you all as the emergency pack played a part in saving my life. There was about 100 people waiting to be seen in accident and emergency (A&E) and when I handed in my pack I was seen within five minutes. All the staff caring for me took it seriously and acted quickly.” (shared with permission)

Below we summarise the rare disease self-advocacy tools that we identified:

1. Knowledge of rare disease and knowledge sharing

Learn all you can about your condition, from dedicated charity websites to specialist services and share this information with everyone who needs to know. If you can, give presentations to schools, to HCPs such as your GP practice, and hospitals or ask your dedicated charity for help with doing this. If available, share disease-specific information sheets.

2. Mental health

Be aware of your mental health needs and advocate for those needs; rare disease can be tough and lonely. Strong emotions can cause physical symptoms, and equally maintaining good physical health can help promote mental wellbeing. Access counselling if needed and connect with others through support groups, conferences, closed Facebook pages etc. Know when to take time out if feeling overwhelmed and know when to ask for help.

3. Routine medical care/physical well being

Be compliant in routine medical care e.g. annual scans and appointments even when you feel well. Take medication as recommended and ensure you maintain a supply and don’t run out. Follow lifestyle recommendations and consider how diet and alcohol consumption might affect inflammation and healing. Seek advice and advocate for yourself if your care needs are not being met.

4. The development of good working relationships between patients and health care professionals

Build relationships with HCPs so that you are collaborating on your care. Have regular catch ups where you can share any new information, knowledge and developments. GPs look after a lot of patients and may not get clinical updates about rare disease like they would with more common conditions. Be proactive. Share clinic letters between HCPs to help join up your care. Ask for same day appointments (where urgent) and consider consenting for someone else to talk to your GP on your behalf. Ask for a flag on your records (if available in your area)—this will “flag up” your condition. Try to centralise your care where you can and use specialist centres where available. Larger teaching hospitals may have better expertise and facilities.

5/6. Information accessibility & emergency preparedness

Prepare an information pack which you can show to HCPs in routine and emergency care. Keep a copy at home in an easily accessible place that everyone knows about. Have duplicate packs for when you are out and about. Use technology where possible and keep copies of this information on your phone (and family members phones) and find someone who can advocate for you if need be. Put together a medical file and keep it up to date with your personal details, a GP medical summary of your diagnosis and history, a care team summary, copies of latest results and clinic letters, and emergency information for HCPs where needed (consider the message in a bottle scheme). Where available and if applicable, arrange for your local ambulance service to have patient specific instructions (so they know of your diagnosis) known in some regions as ‘ambulance markers’. If relevant, know about emergency resources e.g. medic alert, careline GPS alarm, sunflower lanyard, the what3words app, adding emergency information to your phone’s lock screen. Look for help on charity websites. Get to know your local teams.

7. Education/outreach

Get involved in educating others at conferences, through webinars, publications and volunteering your expertise to charities. You have lived experience of this rare condition which you can share if you feel able to. If we all pool our experience and knowledge, we will not be reinventing the wheel every time we go to the doctor or hospital.

8. Research/feedback

Should you wish to take part, take any opportunities for involvement in research, patient public involvement, patient feedback and sharing knowledge and experiences, it is both empowering and lifesaving.

Next steps

In line with our principles of self-advocacy listed above, we published our research in a scientific journal—always good to get your work verified by the scientific community! We presented our work at conferences and now we are publishing with RARE Revolution.  Please let the RARE Revolution team know if you have any feedback or new ideas or ways to support self-advocacy for rare disease. We would love to hear from you!

Thank you!

Juliette, Jacqui, Gemma, Clare and Jared

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