Conference Report: Global Genes Rare Advocacy Summit

The Global Genes Rare Advocacy Summit is a rare disease patient advocacy conference based in Kansas City, Missouri, USA.

‘Each year, Global Genes convenes one of the world’s largest gatherings of rare disease patients, caregivers, advocates, healthcare professionals, researchers, partners, and allies at the RARE Advocacy Summit to work together to build a path to hope. This is an opportunity for advocates, whether new or veteran, to forge meaningful connections with others in the rare disease community for future collaboration. Sessions provide attendees with insights about the latest in rare disease innovations, best practices for advocating on an individual and organizational level, and actionable strategies they can take home and implement immediately to improve care and accelerate change.’ -

Global Genes

Myrovlytis Trust and BHD Foundation’s Health Information and Engagement Manager attended this conference online on 26 and 27 September 2024.

Session one

Living with Visible and Invisible Disabilities 

• Moderator: Mackenzie Abramson, Senior Manager, Research Program Communications, Global Genes
• Kendra Gottsleben, Marketing Communication Specialist, Center for Disabilities, Sanford School of Medicine, University of South Dakota
• Richie Kahn, Clinical Researcher, Co-founder and COO, Canary Advisors
• Soniya Vadher-Patel, Social Media Influencer, Entrepreneur and Mental Health Advocate

This session was about sharing experiences and understanding dynamic and invisible disabilities, as well as the difference between these and visible disabilities. People with rare genetic conditions can identify as disabled if they feel it is a label they feel connected to. There is also the opposite with dynamic disabilities – the fluctuation of rare symptoms can make you feel you belong to neither able bodied nor disabled communities.

Genetic conditions are not linear – a discussion by the panel explored how (for example) some days you may need a wheelchair or walking aid and the next you may feel strong enough to walk unaided. Conditions can change from year to year as new symptoms develop – in rare conditions this can feel isolating and scary, especially if a condition is life-limiting or has risk of developing a cancer such as in BHD.

Self-care in rare conditions

The panel was invited to share tips of how to cope with living with a rare genetic condition. All panel members advocated therapy and processing your own emotions to do with your health, by allowing the anger and sadness a space, but also finding ways to move forward and look after your mental wellbeing. Remembering that you can’t control other people’s actions or words was discussed.

It was acknowledged that living with a rare genetic condition has a significant burden on mental health. Knowing what to expect when a condition fluctuates, or progresses, can help prepare yourself and those around you.

Session 2

Help for the Rare Caregiver 

• Moderator: Megan Nolan, Founder, Rare Parenting
• Daniel DeFabio, Director, Community Engagement, Global Genes
• Bridgette Kelleher, Ph.D., Associate Professor, Psychological Services, Purdue University
• Bret Koncak, Rare Dad, Co-founder, mejo

This session was about supporting those who support people with rare conditions. Mainly, the session focused on being parents of a child with a rare condition and the impact this can have on relationships within the family.

Bridgette Kelleher, PhD from Purdue University spoke about clinical research done with caregivers to those with rare conditions. She described how the mot popular response to asking what a main coping mechanism was ‘keeping busy’. Her research is looking at digital interventions for rare disease caregivers to improve wellbeing. However, it was acknowledged by the panel that care giving for someone with a rare disease is a big stressor regardless of how much self-care and support you have, and there is a limit to how much you can destress. Effective communication between you and any other care givers (family members, partners) can help ease this.

Session Three

PTSD and Medical Gaslighting in Rare Disease

Moderator: Mackenzie Abramson, Senior Manager, Research Program Communications,

• Global Genes
• Amanda Griffith-Atkins, Marriage and Family Therapist, Founder, Amanda Atkins Counseling Group
• Carla D’Imperio, Family Support Specialist, Phelan-McDermid Syndrome Foundation
• Suzanne Edison, Mental Health Coordinator, CureJM

The aim of this panel was to share experiences with medical gaslighting and PTSD. It was also to give tips for advocating for yourself in medical appointments. PTSD diagnostic criteria were discussed and advice on what can help (therapy, friends, community and support groups). Medical trauma is very common in rare genetic conditions as doctors aren’t aware of them or consider them so rare that they dismiss that symptoms could be a rare disease. They often experience being refused for further testing

The panel then discussed ways to navigate a conversation with a medical professional in which you are feeling gaslit or not listened to. The main tips included:

• Record your appointment, especially if you are attending alone as you won’t be able to remember everything that was said
• Saying ‘I’m not feeling heard right now’ or ‘I feel like I’m saying something that you are not understanding, and I want us to be on the same page’ can help regain control in a conversation with a doctor that you may feel is ignoring your needs.

Poster Session

For the online attendees there was an online poster session. Posters included:

• Drug Development Illustrated: Infusing Equity in Preclinical Research
• The STARR STXBP1 Natural History Study
• Are we measuring what matters to patients? A narrative and scoping review of flare-up symptoms tracked in an app-based platform compared to clinical endpoints in complex and rare conditions

Day 2

Session 1

Rare Siblings

• Moderator: Noah Seidman, Rare Sibling
• Matt Flesch, Vice-President, Communications & Patient Advocacy, Amgen
• Felix Townsin, Rare Sibling

This was an advocacy session exploring the experiences of siblings of those with rare conditions and rare diseases.

Speakers were siblings of those with rare disease and the main messages from discussions were:

• The importance of being a sibling and being part of family life that was normal.
• Making your unwell sibling laugh and being close to them was important
• Mental health can affect family with a person with a rare disease. Especially the siblings. Importance of looking after sibling wellbeing.

Session 2:

How to Master a Rare Disease Conference

• Moderator: Erica Jones, Outreach Manager, Simons Searchlight
• Jessica Fein, MitoAction Advocate and Author, Breath Taking: A Memoir of Family, Dreams and Broken Genes
• Ashley Point, President, Koolen-De Vries Syndrome Foundation
• Michele Whiteside, Director, Programs and Events, Global Genes

This session was mainly about sharing advice and experiences of running a rare disease conference. It was attended because the advocacy session was on rare disease children and schooling which is not generally an issue for BHD patients. The BHD foundation also is hosting their BHD Community Symposium in October, and this session would be relevant.

• Identifying the researchers and new interest – getting researchers to talk at a level that the audience will understand
• Budget and sponsorship. Community outreach initiatives can be useful for sponsorship
• Chat GPT can be useful to do with comms and marketing
• Accessibility for participants and attendees.
• Consider closed captioning, alt text, tailor things to needs of participants eg wheelchair ramps, food to suit nutrition, specific needs for your patient community
• Wordly – AI software for closed captioning – and language translation

Entirely virtual conferences:

• Zoom for non-profits – cheaper
• Organic conversations are missing from virtual events – consider informal sessions
• International travel for conferences – costs for research or pharma can help offset patient prices

Session 3

Using AI to Improve Diagnosis 

• Moderator: Danny Levine, Life Sciences Writer, Global Genes
• Erik A. Feingold, CEO and Co-founder, FDNA
• Melissa Haendel, Ph.D., Director of Precision Health and Translational Informatics, University of North Carolina, Chapel Hill
• Kat Schmolly, M.D., Founder, zebraMD

This session was surrounding the use of AI technology to support

Steps to a rare diagnosis:

1. A medical professional or family member noticing that there is something different
2. Convincing medical professionals that this is something unusual. Clinicians aren’t trained to diagnose rare disease – they care for the masses
3. AI – can help fill this gap in patient records for health professionals everywhere not just diagnosticians
4. Going through testing for genetics – insurance/cost/availability. Your variance may be so rare it isn’t in the databases or it’s not solely a genetic disease. Integrating modalities is an issue. AI can help a specialist dr in diagnosis process
5. Once you have a diagnosis – the medical system in the USA for example, hasn’t got many medical shorthand codes to record this in national databases – the knowledge is stored in notes not as a code that other doctors can access
6. Before specific symptoms – time issues for clinicians, as it is very busy. There is a huge diagnostic delay in rare disease – doctors just don’t have capacity to consider this.
7. AI tools would benefit at point of accessing care. If coding comes up in regular appointments it would shorten this. EG using tools  in ChatGPT to scan medical records

A discussion was then had about the opportunity to use AI capabilities to create a genetic health risk assessment (e.g. a child development checker) at first point of noticing a developmental or health delay. AI could be used as a diagnosis accelerator – it would take all the health information and data points in a meaningful and structural way to support the physician in making healthcare decision.

It was made clear that AI should not make decisions but can process the noise and make into something meaningful.

• Dr can dictate notes and models can assimilate it
• It can recommend a genetic test rather than making a diagnosis
• What is in common with all those sets eg facial dysmorphia (eg in BHD, fibrofolliculomas)

No single AI engine that will be able to give all the answers – several models to be used and synergistically. Then the clinician/specialist can review the output. 

Conclusion

The Global Genes Rare Advocacy Summit was insightful and a good snapshot of where patient advocacy for rare disease lies in the USA, where the BHD Foundation has a large number of BHD patients. The AI session reflected the stage we are at with using AI, for example in the research project currently funded by Myrovlytis Trust, ‘Developing AI solutions via Federated Learning to aid the diagnosis of Birt Hogg-Dubé syndrome and other rare genetic causes of pneumothorax’.