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By Juliette Harris, Genetic Counsellor, London Ehlers-Danlos Syndromes (EDS) national diagnostic service, Jacqui Fish, patient advocate for Annabelle’s Challenge Vascular EDS Charity and Sarah Wynn, CEO of Unique

The Unique community faces many challenges such as …

‘’FEELING ISOLATED’’
‘’THE LACK OF INFORMATION AVAILABLE AND NOT ENOUGH
RESEARCH OR ANSWERS’’
‘’ACCESSING THE SERVICES THEIR CHILD REQUIRES’’
‘’LACK OF AWARENESS THAT RARE CONDITIONS ARE INDIVIDUALLY RARE BUT COLLECTIVELY COMMON’’
‘’LACK OF AWARENESS OF GENETICS AND GENOMICS ACROSS ALL LEVELS OF SOCIETY / HEALTH / SOCIAL CARE / EDUCATION”
“HAVING TO FIGHT FOR RECOGNITION“

Many of the same challenges apply across the rare condition community. However, there is now evidence that the ability to self-advocate ‘speaking up for yourself to get your needs met’ can empower people with a rare diagnosis to navigate the complexities of their condition and ensure they receive appropriate care.

Following a research survey, Annabelle’s Challenge, the charity for people with vascular Ehlers-Danlos Syndrome in collaboration with London Ehlers- Danlos Syndromes (EDS) national diagnostic service developed a self-advocacy ‘toolkit.’ This toolkit was designed to increase powers of self advocacy and get needs met and rights respected in health care and beyond. This toolkit has now been adapted and developed especially for the Unique community. Using it, can help you …

“USE KNOWLEDGE AS POWER”
“FEEL LESS ALONE”
“FEEL MORE IN CONTROL”
“INCREASE AWARENESS OF RARE CONDITION NEEDS AMONGST HEALTH CARE PROFESSIONALS”
“WORK IN COLLABORATION WITH YOUR DOCTOR”
“USE YOUR KNOWLEDGE AND EXPERIENCE TO HELP OTHERS”

Learn all you can about the condition in your family, from Unique resources where available, other families with the same or similar conditions (if applicable), and your specialist health care professionals (HCPs). Share this information, any appropriate resources (for example patient literature), together with your own lived experience, with everyone who needs to know. Remember your lived experience and knowledge will be hugely beneficial to HCPs to help them understand and gain knowledge and awareness of a condition that they may have not encountered before. We can’t expect everyone to have knowledge of all rare conditions but you are an expert in yours. The language of medicine, genetics and rare conditions can often be new and difficult to understand or remember. Please always feel able to ask if you don’t understand the words or abbreviations and ask your HCP to use terms that you are comfortable with. If you can, offer to talk to people in schools and to HCPs such as your GP practice and local hospital so they can learn from your experience. Contact Unique or your dedicated patient charity if you would like help with this (help@rarechromo.org).

Prepare a medical information pack, which you can show to HCPs in routine and emergency care. We recommend that this pack includes:

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 if applicable) and find someone who can advocate for you if need be. If relevant, consider the message in a bottle scheme and know about emergency resources e.g. MedicAlert, careline GPS alarm, sunflower lanyard, what3words app. You could also add emergency information to your phone’s lock screen.

Put together a more detailed medical file for your own use and keep it up to date including all clinic letters, test results and appointments in chronological order so that information can be easily and quickly accessed.

Build relationships with HCPs so that you are collaborating on your care. Have regular catch ups where you can share your medical information pack and in particular, any new information, knowledge and developments. GPs manage many patients and may not receive regular clinical updates on rare conditions as they do with more common ones, so it’s important to be proactive. A close and collaborative relationship with your GP really does relieve some of the burden of a rare condition and they can benefit from your expert knowledge to improve your care. You and your HCP should share relevant clinic letters with other HCPs to help coordinate and streamline your care.

Be aware of your mental health needs, advocate for those needs, and where needed, take steps to improve your wellbeing; being a carer or having a rare condition can be a tough and lonely place. 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 (please email Unique, help@rarechromo.org if you would like to become a member of Unique’s – ‘The Rare Chromosome Disorder Support Group Members Café’. Know when to take time out if you are feeling overwhelmed and know when to ask for and accept help. Unique have a comprehensive guide to mental health and wellbeing with resources which might be helpful.

Try to make sure everyday health care needs are met, including any routine appointments or specialist care needs. Keeping the conversations going with regular catch ups will keep you seen and your voice heard and help to build relationships with your HCPs. Where possible follow standard lifestyle recommendations as this can improve overall health even when living with a rare or serious condition. Seek advice and advocate for yourself if you feel your care needs are not being met.

Supporting others via support groups and sharing your knowledge with them is empowering and will help you as well as them. Please get in touch with Unique if you would like to be put forward for opportunities to speak and share your story and experiences. You can also 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.

Research/feedback Research into rare conditions is important to improve care. Should you wish to take part, take any opportunities for participation in research, patient public involvement, patient feedback and sharing knowledge and experiences; it is both empowering and can make a big difference to the life of patients and their families. Unique regularly shares research opportunities via email and on our social media channels. Please let Unique know if there are research projects you know about that might be of benefit to other Unique members.

If you have any advice or personal self-advocacy stories that have helped you to have your needs met, Unique would love to hear from you. Please email help@rarechromo.org if you’d like to share your experience to inspire and support others.

We’d also love to hear from you in the future if any part of the Unique Self-Advocacy Toolkit helps you make a difference.

.… and remember….

”THE UNKNOWN CAN ALWAYS BE SCARY BUT WITH THE RIGHT TOOLS, PLATFORM AND COMMUNITY, A DIFFERENCE CAN BE MADE”

Adapted from an original article published in RARE Revolution Magazine^TM.
Based on an original academic paper.

Tell us what you think of the Unique Self-Advocacy Toolkit – help@rarechromo.org