2022 RARE Patient Advocacy Summit

2022 RARE Patient Advocacy Summit

Rare Life. Bonded Together

September 12-14, 2022 San Diego, CA

The first conference attended since WORLD in March 2020!  It was great to be able to get out amongst people again.

It was a full schedule with many topics discussed.  I was inspired by all of those who strive to keep showing up, despite so many challenges.  To keep persevering, to keep being vulnerable, to keep driving for those who may not have a voice, or for those who can’t find theirs.

Global Advocacy Alliance held a networking event exclusively for Global Advocacy Alliance members.  NZPN is a member of the Alliance.  The event allowed us all to come together for an “interactive program designed for organizations to engage, learn, and build off one another, to collaborate with our peers in the rare disease space on a number of different areas of expertise and topics of interest”.

From a survey that was conducted before the GG Summit, there were 10 topics which were repeatedly mentioned as most important.  The Alliance members voted on which 3 were the most important to tackle first.

The 3 topics decided upon were:

  • Mental Health
  • International Relations and Equity
  • Clinical Trials – access for everyone

Corporate Alliance also met with the Global Advocacy Alliance before we separated off.  It was a great chance for industry to hear the thoughts and ideas from the patient community.  They were also included in the 3 round table topics (as above).

Kris Pierce from Australia led the International Relations breakout group.  I joined in on that one because that is a big topic for us in NZ.  Kris is amazing, not afraid to stand up and be heard.  She was talking about the exact thing that NZ goes through – being left out of a lot because of our geographical location.  We talked about activating, collaborating, sharing, encouraging, and reducing the diagnostic odyssey.

I’ve volunteered to join the working groups for International Relations and Clinical Trials.  I’m keen to be able to share my journey on clinical trials, and also work with other countries to make sure we have more input on the needs and problems that arise from being outside of the larger countries.  I was asked by one of the pharmaceutical companies to write up a document about the challenges we face taking part in clinical trials, so that they can make better decisions for participants.

NZPN was offered a free booth at the Summit, so I grabbed that opportunity to really promote NZPN.  Our wares at the booth were our pamphlets, business cards, stress ball zebras, chocky fish, airplane lollies, pineapple lumps and Whittakers chocolates.  ALL items were well received and at some points there were queues at our booth, with many attendees saying our booth was the best one.  I like to take along all sorts of goodies as it makes us memorable to overseas people.  It really does work!

Visitors to our booth included many others with different rare disorders, parents, caregivers, industry, advocates, and friends.  It was a great hangout spot for those of us with Pompe.  I had excellent help from my travelling companion, Cherie, and fellow Pompe patients – Ryan from Los Angeles, Jared from San Diego, Maddie from Florida, all with Pompe and all enjoying being together in our Pompe booth 😊

Several industry people came to visit our booth.  They all said it was great that we make the journey to these meetings as it keeps us in the eye of the companies, and it shows we really want to make a difference for our patients and not afraid to put the work in to keep us front and centre.  I was introduced to a man from a company (he didn’t mention which one) and he took my card as he wants to contact me about 2 Pompe treatments they have in their pipeline.

The exhibit hall during the breaks is the best place to meet people as you have the opportunity to have a good conversation.  One lovely advocate was a man from Uganda who represents people with Lysosomal diseases.  I said to him to take some chocolate and lollies.  He said the Ugandan kiddies would love it.  I said fill up your bag!  So he did.  I had lovely thoughts of the children enjoying goodies from NZ 😊I have since received an email from him asking how we might work together for the betterment of the countries outside of the big centres.  I’m interested in your thoughts and ideas on that.

One of the many highlights was attending the session with the Keynote Speaker: Gail Devers, Olympic Gold Medallist.  What an inspiring story of her diagnostic odyssey.  She has “Graves’” disease.  Like many of us, took years to get diagnosed after being fobbed off, ignored and every other horrible situation we have found ourselves in before someone figured out what was happening.  I think this session will be online at some point. You can read about her here;

Gail Devers: Three-time Olympic gold medalist on how Graves’ disease ‘made me who I am’ | CNN

Most of the sessions involved a moderator, with 3 or 4 panellists.  Topics covered were so familiar to all of us;

  • 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
  • Undiagnosed? Misdiagnosed? Issues Related to Obtaining a Genetic Diagnosis How and when do you seek a genetic test, what to do if the result is inconclusive, when to retest, and can a genetic counselor advocate for you? Secondary findings.
  • The Emergency Guide to RARE Doctors and EMTs aren’t used to you knowing more about a medical situation than they do. How to get your key points across quickly and kindly so you get the best care when dealing with a new provider. Moderator: Darlene Shelton, President and Founder, Danny’s Dose Alliance (see information below on this organisation)

Danny’s Dose – a 501C3 Nonprofit – Changing Emergency Medical Protocols for Chronic Illness & Rare Disease

Danny’s Dose also provides a bright yellow cover for the top of car seats which is easy to spot in an emergency situation if one occurs when you are out and about.  I purchased one of the covers because I think I can make some for our group and send them out with information printed on them.  You can also insert a card in the pocket with important information on it.  Something to work on.








I’ve always believed even if we only make contact with ONE person willing to help us, it will be a successful trip.  I think we did much better than that.

Keep an eye on You Tube for some videos from the Summit as they are posted.  Just search You Tube ( www.youtube.com ) for “global genes summit 2022”.


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