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Tagged: rare disease, Unusual Conditions
- This topic has 16 replies, 9 voices, and was last updated 7 months ago by Nancy Keller.
July 19, 2022 at 9:04 pm #369515
July 20, 2022 at 3:03 pm #369526Patti DeMuriParticipant
July 20, 2022 at 3:37 pm #369528Io DolkaParticipant
We work as well with rare, complicated and difficult to diagnose conditions at GreyZone. Happy to connect. You can look at our website at http://www.greyzonehealth.com
July 20, 2022 at 4:07 pm #369531Bayla JacobsonParticipant
I also specialize in rare diseases. The rarer the better. 🙂 Zebras FTW!
July 20, 2022 at 7:23 pm #369535Dena Feingold, BCPAParticipant
Before joining Deb as the Co-director of APHA, I specialized in rare disease advocacy mostly for the pediatric population. I am also a caregiver (my son was diagnosed with Gaucher disease at birth). It sounds like there are quite a few here who also specialize in rare disease advocacy. There is an upcoming conference – RARE Patient Advocacy Summit in San Diego (and virtually) being held in September: https://globalgenes.org/event/rare-patient-advocacy-summit/
If you are looking to connect with peers and patients, Facebook has been a great resource for connecting with others, and NORD has been a terrific resource for patient assistance organizations that help to pay for care.
Please reach out with questions or if I can be of help.
July 20, 2022 at 7:58 pm #369536Lorelei CheungParticipant
July 21, 2022 at 2:10 pm #369550Christie CoxParticipant
I’m so glad to see other rare disease advocates on here. I too am a EDS patient turned advocate. Any interest in a shared email Google group to stay connected and share resources? I’m happy to set it up if people are interested. If you are – send me your email to email@example.com.
July 21, 2022 at 5:06 pm #369551Patti DeMuriParticipant
I’m a retired medical mom of adult kids with EDS, mast cells, eosinophilic esophagitis, POTS, and multiple other rare diseases. My approach is as a patient educator and coach to help rare disease patients and caregivers self-advocate for the care they need thru courses, a membership, and coaching sessions. The google group idea sounds great – I’ll send an email.
July 21, 2022 at 5:38 pm #369552annellewellynParticipant
What a great groups of advocates. I am on the editorial board of the Case Management society of America. We are going to do an issue on rare disease and would love if a few of you would like to write an article. This won’t be till 2023 as out editorial calendar is filled up till then. we will be looking for copy by early December, so if any one is interested, reach out to me and I can review the time line and other details.
Would like to see a variety of topics and issue people face from childhood through adulthood.
July 22, 2022 at 3:22 pm #369572Karen SilberParticipant
Hi all, I have a few rare diseases….Chiari Malformation, Syringomyelia & Pseudocholinesterase deficiency. I am currently at a Chiari/Syringomyelia conference and am thrilled that I will be invited to sit on their board 🙂
If you would like me to provide any input, I would love to. I am a success story and find people need to hear that’s there is hope. I hope to advocate for those with these conditions within my business as well.
July 26, 2022 at 5:07 pm #369674
Anne, thanks for the info on the RD summit. It’s Sept 12-14 and attendance is both in person and virtual. I will opt for the virtual because I’m attending the Healthcare Advocate Summit in person the week before.
July 26, 2022 at 5:30 pm #369676
Anne, APHA wouldn’t happen to have a discount code for the NORD summit, would it???
BTW, registration is $399
July 25, 2022 at 9:50 am #369635Christie CoxParticipant
Those of you who shared your email were invited to the Google email group today called APHARare- the email to use to group communicate is “APHArare@googlegroups.com” but you must be a member. I made it private so the public cannot subscribe. If you want to join in and did not post your email above, please let me know by EMAILING ME at firstname.lastname@example.org and I will add you.
No worries if you dont have a gmail account – see how to join here – https://support.google.com/groups/answer/1067205?hl=en#request
July 26, 2022 at 5:02 pm #369673
OMG – I had no idea there were so many responses. It’s wonderful! (I thought I would get an email notification when there were responses, but I must have been dreaming!) Thank you to everyone who replied, as well as for the information you provided.
I’ve had some exposure to rare diseases over my years in academia, but no first hand experience. I’m looking to learn and collaborate with anyone interested.
Would you like a monthly Zoom meeting (or more often) to discuss our mutual and disparate areas of focus, expertise/experiences, and best practices? I’d be happy to put that group together.
I’ve asked Christie to let me into the gmail group. That may be the best forum for connecting, or we can use this APHA forum. Suggestions? Comments?
August 23, 2022 at 1:50 pm #370520
Christie, I never received an invite.
August 23, 2022 at 2:04 pm #370521
Just letting you know that I’m going to D.C. to attend NORD in October and the Global Gene virtual conference in Sept. Let me know if there are any questions you’d like me to pursue on your behalf.
Otherwise, I haven’t forgotten about us! Life has intervened and everything else has been put on the back burner. I hope to pursue the Google Group and have a Zoom meeting so we can all discuss our shared interests. Stay tuned!
Thanks for your patience and understanding.
October 26, 2022 at 8:06 pm #373180
I attended the NORD Summit on October 17 & 18, 2022. What a wonderful experience! It gave me a feeling of community and opened my eyes to how I may help as an independent advocate. As someone just getting my feet wet in Rare Diseases (RDs), I learned so, so much there.
We heard from people with RDs and got a firsthand glimpse of what life is like for them. That was touching and inspiring. They have the strength and determination to obtain a correct diagnosis and obtain available treatments. They don’t take no for an answer.
People from both the FDA and NIH were there to give a talk or answer questions via informal panel discussion. They listened to people’s concerns over the years and took real action to make long-needed changes. Past efforts of the community are now coming to fruition, or will soon.
Lunch & Learns provided an opportunity to talk with other advocates and/or people with RDs. An alternative offered was to take advantage of Networking events in one-on-one discussions with other attendees. These were great opportunities for connecting with people on all levels in the continuum of RD care.
I truly feel that I have found my people and I will be honored to work with them.
Would you be interested in a Zoom meeting to discuss? If so, we can set something up asap.
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