Pearls from Keynotes & Sessions at Patient Advocacy Summit
September 21, 2022
Since the Patient Advocacy Summit had its closing remarks a week ago, the Global Genes staff took a few days off to hit the refresh button, and collected a few of the gems that were heard during sessions and keynotes. Do you have some of your own? Please share!
Pearls from Keynotes & Opening Remarks
Any step forward is a good one. – Daniel DeFabio, Opening Remarks
There is so much value in engaging the whole rare disease community, not just for the diseases we are developing drugs for. – Matt Flesch, Horizon Therapeutics
You can find joy in the darkest places. You just have to turn the light on. – Parvathy Krishnan, Closing Remarks (based on a line said by Albus Dumbledore in J.K. Rowling’s Prisoner of Azkaban. Dumbledore said “Happiness can be found even in the darkest of times, when one only remembers to turn on the light”)
Also, too, it is important we pay a keen ear to developing clinical trial protocols and making sure that the patient voice is heard, and also it’s really important to have cultural diversity when developing different trials. – Paula Orandash, PTC Therapeutics Industry Session, Industry’s Commitment to Patient Education and Community Resources
Boats on the Water: Navigating Life with a Terminally Ill Child
Emily Rapp Black
Bestselling author Emily Rapp Black spoke about the loss of her son Ronan, who was diagnosed with the rare and fatal condition Tay-Sachs disease, and how she turned to her writing to make sense of her grief.
Heartbreak takes many forms. There is no standard time; love can conquer fear, death or loneliness. But love does win. It wins because the purest form of love is to reach out to other people, to tie our boats to piers. To rise or sink always together.
Sometimes people need to be punched in the face.
The only way to process anything is to share it.
When you have a terminally ill child, you know every moment is like made of glass.
Empathy is using your imagination: what would it be like if my child had a terminal illness?
Race of a Lifetime
Three-time Olympic gold medalist Gail Devers spoke about her rare disease diagnostic journey finally leading to a Thyroid Eye Disease (TED) diagnosis.
I’m stronger than I thought I was. You can’t tell me no.
I’m a sprinter, but the race of my life has been a marathon.
RARE doesn’t mean less important. It means not enough people know about it.
The Past and Future of Patient-Centered Rare Disease Innovation
Biotech veteran Jim Geraghty spoke about the journey that therapies for rare diseases has taken, and what is in store for the future of rare disease therapies, and how patient involvement has and can make a difference.
There is no one big solution; it takes thousands of people coming together.
It takes hundreds of different efforts in small ways to come together to create both the scientific and the technical and the regulatory policy environment to allow these to thrive.
What was so important about their pioneering was that every one of the companies I just mentioned, when they first tried to develop a therapy, it failed. Often it failed a second or third time. Many of these companies were on the brink of bankruptcy. Many had to resort to significant reductions in staff, laying people off, closing offices, persuading investors to give them another chance. Often finding ways outside of the orphan drug world that they could provide some kind of financial stability to keep the company alive until these drugs that are really at the heart of their mission could be proven to work. But they did. In many cases as you know. They did because those companies were patient centered. And those drugs were developed in partnership with patient advocates.
Pearls from Sessions at Patient Advocacy Summit
Grieving as a Community
When someone in your same disease community passes on, how do you lead support for that family and for all your members?
Being a supporter or friend for someone grieving is not a box to be checked or moved on from. More than that, speak my child’s name. Hearing her name will never fail to bring music to my heart. Just keep showing up. – Becky Benson
People only see grieving as pain. Grief is also enduring love. Grief only exists where love lived first. – Meghan Fox
Grief doesn’t have an expiration date. – Jessica Fein
Don’t bring up stupid $hit! – We LOVE this salty pearl from Julia Vitarello
Mental Health for RARE Adults
How can we normalize and increase access to mental health care for adults diagnosed with RARE disease?
People don’t reach out for mental health care for 12-18 months, even when their needs may be immediate. – Al Freedman, PhD
Parenting While RARE
How do adults with a RARE disease balance their own care needs with the typical burdens of parenting? Do children feel like caregivers?
I am grieving the life I had before and the life I thought I would have moving forward. – Adam Johnson
How do you cope with it? You address it head on, but the fear is real. It is hard to have to be vulnerable and to also want to protect your kid, but you can’t. – Mary Morlino
Having that upfront conversation with your kids is important. Having those real conversations with your kids and having an emergency plan is important because this is reality. – Deborah Vick
The RARE Siblings Experience
Sometimes called glass children, the siblings of a person with a RARE disease have unique demands put on them. How can you best care for a sibling or be that sibling? How can they split their focus between having their own life apart from their sibling’s needs?
A lot of rare siblings grow up knowing something is wrong and are just always waiting for the other shoe to drop. – Emily Holl
Kids need to have kid-friendly explanations in a way they understand, and not just a one-time conversation, but ongoing conversations. – Emily Holl
F*** This 2.0 – Sex When You’re RARE
Real talk from adults with RARE disease who (shock! horror!) like to have sex. Maybe it’s different, but it’s not less important.
Broaden your minds to find what sex looks like to you without it being exhausting. – Maisy Cyr
The key to navigating intimacy and sex is communicating and knowing what works for you. – Mackenzie Abramson
You cannot expect the TV norm to be the only desirable or sexy. Remind ourselves, we are worthy. – Brianna Cardenas
Finding & Retaining Volunteers
Sometimes getting the volunteers is the easy part, but keeping them can be trickier. Tips on how to engage your team of volunteers to keep them coming back.
Wanting to step back, separate yourselves if you are living day-to-day with a rare experience, you want those few hours to go to something different and to not necessarily be thinking about this rare disease life constantly. – Taylor Kane
And I’m a big fan of psychological safety, especially when you work in patient advocacy environments where everybody can feel very psychologically safe to say I’m just here, but maybe I am not going to do much for you right now. And that’s okay. – Tuesdi Dyer
Preventing Caregiver Burnout
How we can avoid the burnout and depression that may come from caregiving.
The difference between self-care and self-comfort is that self-care will sustain you for the long haul of caregiving. – Jessica Patay
I had to find solutions to problems that I could control, because having a rare child wasn’t controllable. What I could control was taking care of me. – Parvathy Krishnan
Stress on Partnerships/Marriage
Whether a couple includes one partner who is RARE, or a couple is raising a RARE child, medical challenges are an added stressor on the relationship. How can you best manage that stress and keep a relationship healthy?
It is ok to do things on your own. Embrace your community. Men deal with things by saying things like ‘I don’t want to talk about it’ – Tom D’Amato
Even in a marriage, it is not uncommon to feel alone – Felicia Morton
Guide to Palliative Care and Complex Care
When RARE patients with complex medical issues need palliative care or complex care, a coordinator can make a huge difference. Learn the difference between the two and how to add one to your care team.
Palliative is a language and approach for quality of life – It is different for each family. – Lily Gillmor
The death of your child is not a failure. – Liz Morris
A diagnosis is just a tiny piece — it is a part of the journey but not the whole journey. – Billie Short, Undiagnosed? Misdiagnosed? Issues Related to Obtaining a Genetic Diagnosis
If you don’t feel respected, you don’t feel heard, you have to move on (referring to finding the right genetic counselor, but could also apply to other providers). – Gina Szajnuk, Undiagnosed? Misdiagnosed? Issues Related to Obtaining a Genetic Diagnosis
Don’t let one negative experience or one disappointing test result stop you from getting that diagnosis. – Shruti Mitkus, Undiagnosed? Misdiagnosed? Issues Related to Obtaining a Genetic Diagnosis
How to Be Your Own Caregiver
What if you’re a RARE disease family of one? Adults with no family support face unique challenges.
I also have another full time job which is taking care of myself and teaching other people about my condition and other rare conditions and acknowledging that is what kind of gives me peace in okay, I can do this. – Dakota Fisher-Vance
Every time I have to go to the doctor or hospital or emergency room, I take out my notes and say here’s what worked last time. Here’s my information. – Mackenzie Abramson
Don’t be afraid to fight with insurance. Stand up for yourself –Mackenzie Abramson
If you are the primary caregiver for yourself and your condition, start working on your existing relationships that you already have. – Dakota Fisher-Vance
Live your life. Don’t be afraid. Don’t stay in that patient mode. Do what you need to do. – Mary Morlino
Lighting a Fire in RARE
We all want more awareness and some people seem to have a knack for being seen and heard. What can we learn from them and apply to our own awareness efforts, including increasing social media success.
Never doubt that a small group of thoughtful committed people can’t change the world – Neena Nizar
You don’t have to be an expert, you just have to be an advocate and the expertise will come. – Jill Hawkins
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