When we get sick or face a new challenge in our lives, we often feel alone, but we shouldn’t. There are people who have been in the same situation and are eager to help if they only knew how to find us.
That’s one of my core beliefs, based on the fieldwork and research I’ve done over the last two decades.
Rare diseases are perfect examples of the potential of peer-to-peer health care. Pre-internet, it was incredibly difficult to find even one other person who shared your one-in-a-million diagnosis. As I’ve written before:
At no other time in history have we been able to communicate across the world, in an instant, with anyone and everyone who has knowledge and experience to share. Never has it been so easy to solve problems together. When it comes to your health, your community may be your superpower.
I have a friend who was recently diagnosed with Zollinger-Ellison syndrome. The family members are so scared. They want more information and are not finding it. They want to find an online community or others with this condition. Can you help?
I’m sorry to hear about your friends’ diagnosis — and sometimes even worse, their worry. Just in case they haven’t yet searched or contacted these groups:
- NIH NCATS which is the rare disease hub for NIH — they sponsor the Rare Disease Day symposia, for example.
- NORD
- EURORDIS
In addition to consulting Dr. Google for Zollinger-Ellison sites, I’d look for “adjacent” diagnoses and groups. Sometimes people with similar types of conditions find it useful to compare notes. I’d also search Facebook — there are thousands of public and private (secret even) groups for various health conditions. Ask clinicians if they know of other patients and families that they can connect with. Write to researchers asking the same question. Matt Might is an inspirational person to follow when it comes to rare diseases [because he and his family went from undiagnosed to gathering an international group of fellow patients to leading research for treatments]. Here’s an article about his journey. There are many more!
Previous case study: Brain surgery.
Featured image: A still from the Peer Health Advice video produced by Reframe Health Lab.
Agree with adjacent communities being useful here.
A little while ago PatientsLikeMe (where I work for those that don’t know my disclaimer) we did some work in NET, so I see 16 patients with Z-E registered on our system (you may need to be logged into see them: https://www.patientslikeme.com/patients?s%5Bc%5D%5B1343%5D%5Bhas_it%5D=true)
A lite further Googling suggests:
* Facebook’s “Carcinoid Coffee Cafe” (https://www.facebook.com/groups/163062837046205/?ref=group_header)
* The NET patient Foundation
(https://www.netpatientfoundation.org/)
Deep Google Scholar (not for the faint hearted, contains nerdery!) – https://scholar.google.com/scholar?start=10&q=Zollinger-Ellison&hl=en&as_sdt=0,5&as_ylo=2014
Amazing! Thanks, Paul, for the lightning-quick and super-helpful response.
Let’s keep it going — what other tips can we give this new member of the rare-disease community?
Hi Susannah,
For 30+ years, we have managed the only crowdsourced, long-tail, FREE, directory of support groups, information, research opportunities and so on (dozens to hundreds of fields) for 10,000 diseases. It is called Disease InfoSearch (diseaseinfosearch.org). It is populated by the support groups for each condition so the information is always up to date, free of the incredible mistakes (or, worse, misinformation) rampant on the internet (particularly for rare conditions). It is by and for the people.
And, as someone who has lived with kids (now adults) with a rare disease, I have worked these 30 years to create a home for us – people who live with disease. Another great resource is out Atlas for the newly diagnosed – http://geneticalliance.org/advocacy-atlas – a map of how to advocate for your child, your self.
Thank you, Sharon!
For those following along at home, Sharon is a legend in the rare disease world — and further afield, because she has been able to translate her experience into broader lessons and action agendas.
See:
Sharon’s TED talk: Science didn’t understand my kids’ rare disease until I decided to study it
Health Affairs: Learning Genetics
Applied & Translational Genomics: Life as a numerator: Putting the person in personal genomics
I would also try Global Genes as they are an org focused specifically on rare disease.
Thanks, Amy! The bad news is that my original reply to my friend didn’t include this and other resources. The good news is that no communication is ever over in the internet age. Grateful to you for adding this to their radar screen.
Another resource that is of very high quality – spun out of Genetic Alliance in the 2000s:
Rare Disease Information Center – https://rarediseases.info.nih.gov/
Established by Genetic Alliance and then expanded and spun off in a partnership with the National Human Genome Research Institute (NHGRI) and the Office of Rare Disease Research (ORDR), the Genetic and Rare Diseases Information Center employs experienced information specialists to answer questions from the general public, including patients and their families, health care professionals and biomedical researchers.
By Telephone
Monday – Friday, 12:00 p.m. to 6:00 p.m. Eastern Time
(888) 205-2311 (Phone)
(888) 205-3223 (TTY)
By E-mail or Fax
(Answered within 5 to 10 working days)
gardinfo@nih.gov
(240) 632-9164 (Fax)
By U.S. Mail
(Answered within 5 to 10 working days)
The Genetic and Rare Diseases Information Center
P.O. Box 8126
Gaithersburg, MD 20898-8126
For information on rare cancers, please contact the National Cancer Institute’s Cancer Information Service (CIS) toll-free at (800) 4-CANCER.
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Genetic Alliance also sponsors a community on Inspire: http://www.inspire.com/groups/rare-disease-and-genetic-conditions/ – one can search and post there on any one of the 7,000 rare conditions.
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Genetic Alliance also created a cross condition registry and biobank system such that anyone can set these up in a flash – all of the template documents, sops, regulatory requirements are provided for a very low fee. Working as a co-op (or cartel 🙂 the collaboration of various communities allow better infrastructure for all. We can do together what we cannot do alone. Sharing, leveraging, and keeping people at the center. In our systems, each person makes decisions about sharing, access, and privacy so that silos are broken and research is accelerated.
Disclaimer: I’m Co-Founder of Voro (www.voro.com), the healthcare social network where patients share doctor recommendations with their friends and communities.
Susannah –
We set up a group on Voro for the Z-E community (www.voro.com/c/zollinger-ellison-syndrome) to make it easy for Z-E families to share doctor recommendations. Our concierges will also help verify insurance benefits and schedule appointments, as that can be very difficult to sort through w/ sub-specialists.
While the Z-E group on Voro is just starting out, I’d encourage families to check out other social network based communities. A quick search on Facebook surfaced two groups, one of which has 128 members. That may be a great place to start for emotional support and practical advice on managing the condition.
https://www.facebook.com/groups/125816894106507/?ref=br_rs
https://www.facebook.com/groups/126904673602/?ref=br_rs
If your friend needs help finding specific providers I can tap into some of our expert networks, please pass along my email to them.
As always, great job marshaling and inspiring the peer-to-peer health community to get answers for patients – thanks for bringing us all together!
Tomas
Thanks, Tomas! This is what I love about our online community — when the call goes out to help someone, people respond. Grateful.
Remember that while online support is invaluable, IRL support is sometimes crucial. It doesn’t have to come from within “your” community. I got too wrapped up in online communities, and got burned. I realized what I needed to do for myself and am so much happier.
So glad to read about all the wonderful options as new technology continues to be innovative and accessible. It would be remiss if one didn’t also recommend seeking out a genetic counselor to talk to in the case of hereditary conditions. Whether or not a counselor has seen someone with a particular rare disease may not be as important as their ability to give comfort related to concerns that are often the same for people with other rare diseases, and we can expect them to be a resource for linking up with others through these great innovative digital media platforms as they are unfold.
I don’t know a lot about Zollinger-Ellison Syndrome, but some general thoughts on what to do when you get a rare disease diagnosis…
First remain calm & choose to be hopeful.
Next, use Mayo, Cleveland Clinic, or NIH’s public med resources to read about the prognosis & progression of your illness. Their addresses are https://www.mayoclinic.org/patient-care-and-health-information , https://my.clevelandclinic.org/health , https://medlineplus.gov ,
Read this info — they have different info on each site — BUT DO NOT INTERNALIZE THAT INFO OR ACCEPT IT AS YOUR PATH. Learn what’s typical, but what you’ve read is not a map of your future.
Next, realize that many diagnoses are informative but not always right. I have been misdiagnosed with many things and I believe I’ve been largely unharmed by it. My mom on the other hand… she was misdiagnosed often (even with rare diseases) and those misdiagnoses led to dramatic harm. (Also, the reason I’ve not been harmed by these misdiagnoses is because I have hewed to sort of the advice I’m giving in this reply.)
How did you get this diagnosis? Is it based on a hard evidence test or an exam or indication? Is the diagnosing physician a specialist in that area of medicine? We don’t distrust but we don’t blindly accept!
When a patient hear’s a diagnosis, they can feel a strong rush of emotion. That’s when they lose the nuance. This is a place where breakdown in the doctor-patient communication can happen
Instead, we literally say “the best or latest info I have now is that I may have xyz. And Dr. X is concerned/pretty sure/convinced the diagnosis is accurate.” This means he/she is seeing something to make them think that.
We want to know what the diagnosis is, and what this diagnosis is based on, and with what degree of surety is the doctor applying it.
We listen but we still don’t just tag ourselves with this label and then begin trying to live up to it.
All of this is to prevent someone from becoming overly emotionally invested in the idea that their future is identical to the “textbook path” that they’ve encountered.
You can go from diagnosis to “top of the world” or to “lost without hope” within an hour if you mistakenly assume that a doctor’s diagnosis is a sentence issued like a judge and you mistakenly believe that the standard progression or treatment is absolutely what you have coming to you.
Look into patient communities & be open to patient stories and advice… BUT DO NOT DECIDE ON DAY 1 OR 2 that you can see your future.
Over the years, I think my list of misdiagnoses has become longer than my list of diagnoses… and I am a rare disease success story! So, listen to others, read solid information, listen to you body, and keep this dialog with your condition open.
And, before believing any of these sites that are aggregated by professionals using the peer reviewed literature, check with sites that are crowd-sourced from foundations living with the condition. For most rare diseases, even the federal databases (like OMIM) or major ones (like Mayo) are incorrect because they rely on journal articles that are out of date or disproven. They are rarely corrected, because there is no way for these sources to stay up to date, or be expert on, 7000 diseases. It is why our Disease InfoSearch relies on the people with lived experience to create and maintain these listing, augmented by the agency and medical databases. http://www.diseaseinfosearch.org
> even the federal databases (like OMIM) or major ones (like Mayo)
> are incorrect because they rely on journal articles that are out of date
> or disproven.
Thank you thank you thank you! You’re the first one I’ve seen say this, ever! It’s so important, including for things like Google’s “info boxes” about diseases.
Dave, it is one of the major reasons why I created Disease InforSearch – information by and for the people. Of course, as research progresses, new findings occur. But the nature of the OMIM archive, and PubMed, is such that this incorrect and even sometimes dangerous information, is not removed. It stands. I argued and argued with the curators of these, and was told I did not understand the nature of scientific inquiry. Ah – our goals are different. I want people (including my family not thinking our kids would die at 30 (outdated “findings”) to get accurate and reliable information!
Maybe some day the biomedical research enterprise (industrial complex) will focus on people as the primary goal and incentives will be aligned!
Thanks, all, for coming back to add resources and details! I’ve been sharing this post and the comments on Twitter & as a reply to this question posted on The New York Times article, “Sometimes Patients Simply Need Other Patients”:
“Anyone know of respectable forum for all those who can’t get a diagnosis. The medical mystery series at the NYT is very good but there are thousands of people with unusual problems and no where left to turn for help. The big hospitals do not see people with un diagnosed illnesses.”
Unfortunately, since I included a link, I suspect my comment won’t get approved so I’m going to repost with just text. If anyone else has specific suggestions for this person, please post directly to the NYT conversation!
Thank you for this, Susannah! I owe 7 extra years with my husband Kevin, many of them in remission, directly to peer-to-peer information I found in a relentless online search.
My advice to anyone with a diagnosis of a rare condition — beware of square-peg-in-round hole protocol approaches from “top” docs who lack experience with the rare disease. Patient groups list specialists who know and treat your rare condition. Find those specialists and travel to them for 2nd and 3rd opinions. Press your insurer to pay if they don’t have comparable network Drs.
Unfortunately, I know from our experience, and many of those in our peer patient group, that it can be a big mistake to rely on the medical community for information on specialists. The doctor who eventually came up with Kevin’s diagnosis of very rare appendix cancer was the Chief of Oncology at a well-respected hospital. This best-in-class Doctor never told us of the existence of appendix cancer specialists nor of the potentially curative treatment they had been using successfully for decades. The only option he offered us was treating Kevin with a colon cancer (his specialty) protocol, saying that appendix cancer was “related” to colon cancer. This, despite the fact that there is not one documented appendix cancer cure using colon cancer treatment.
If we’d gone along with this top doc’s square-peg-in-round hole recommendation, Kevin would have been dead within months, having endured chemo side effects and never knowing of the treatment that gave him years of remission!
If you or a loved one has been diagnosed with a rare disease, you MUST insist on having your rare disease treated by someone experienced in successfully treating THAT DISEASE. Not a disease kinda like it; that is simply unacceptable!
Seek peer-to-peer recommendations of specialists who have treated MANY with your condition. And then RUN, DON’T walk to those specialists.
Hi Susannah,
A while back I had asked if I could share your Peer-to-peer health video at a workshop I am doing for palliative care professionals, to help them appreciate the value of peer to peer support and care. You said that would be possible.
What process do I need to go through to obtain a copy of the video that I can show? What information do you need?
It is such a powerful video, and it speaks to the value of peer to peer support that I have experienced and benefited from. Many thanks
Thanks, Eileen! The Peer Health Advice video is available for free for anyone to stream on DocMikeEvans’s YouTube channel.
Here’s the direct link to it:
https://youtu.be/jCGk2n2zJ-s
You can embed the video in a PowerPoint slide or just project it live on a screen — as long as you have internet access where you are speaking, it should work.
If that doesn’t answer your question, please let me know.