A Conversation on Rare Disease Community

Besides the obvious need for ties within the medical, pharmaceutical, and social industries, I have always wondered internally why it is so necessary that parents, adults, children, and loved ones have organized communities in which to gather, focused on the commonality between them: rare disease.


A bit of my own background and experience up until I was 25 years old, my family had only ever gone to one conference hosted by the original Cystinosis Foundation with Jean Hotz. The last six years I have gone to a few town hall meetings, a Cystinosis Research Foundation conference, two Cystinosis Research Network conferences,a patient experience project meeting, and two lysosomal storage seminars. As an older adult with cystinosis I felt definitely I was the outsider at the CRF (Cystinosis Research Foundation) and CRN (Cystinosis Research Network) conferences in which many families had been going since their children were first diagnosed.

I tell you where I am coming from to say this: as an individual who came to adulthood without the support of yearly and bi-yearly meetings with families touched by cystinosis, I have an outsider viewpoint of conference goers, for now. A major observation through my eyes was, and is, the constant comparison of those within the rare disease community, who compare themselves with others living with rare disease, who are somehow viewed as having less than. Thankfulness and gratefulness was, and is, not discussed unless the unfortunate circumstances of others living with rare disease was mentioned. I myself noticed my tendency to talk the same way.

I am a voracious reader because I am a writer. This phenomena of expressing blessings based on comparison of who and what an individual deems as less than is not isolated to the rare disease community. The first time I read words to surround my observations concerning my own thoughts about this concept was through a book written by Renee Watson that explored the topic of race and opportunity.

Rare disease may be the common denominator in a community bringing much diversity together in one room, but the differences among those living with the disease and their loved ones brings a whole other dimension to the struggle of living an authentic. Each person has a different set of environmental, societal, and philosophical places they are coming from.

A fellow Future by Design member, Todd Bradley, gave a stellar interview in the recent edition of the Cystinosis Advocate, Volume 11, Issue 1 Spring/Summer 2018.

The interview topic was relating to Cystinosis Research Network’s sponsored group of adults who are offering their voices and initiatives to better the cystinosis community. The group is called Future by Design. Todd was admirably honest, and I conducted a follow-up interview because I feel he can answer better to the realities going on within rare disease community, which I can wager are not privy to cystinosis communities:

Rebekah:  You mention in your interview in Cystinosis Research newsletter “I wish FbD (Future by Design) was a part of my life decades ago. Life would have been so much easier in the past”. This statement of yours is printed surrounding the context of family in Future By Design. Could you elaborate on what family looks like to you, and how FbD could be a family to others in need of family connection?

Todd: Family is where we start out in life. Whether it be our starting point for advice or how we view the outside world. In our early years we rely on them to make sure we are taken care of and who we can go to when life becomes too much to handle. No matter what problems we face, one should always know they have that shoulder to lean on: a person(s) to share our misfortunes, our triumphs and our failures.

Having a group a people who truly care and value our lives and our happiness is key. That is family and what many don’t comprehend is that some of us with the disease currently don’t have this and are in much need of a family that cares. They feel alone and lost. As we all know that when this happens treatment, self-worth and compliance (in regard to living with rare disease) is no longer a concern.

Rebekah: I thought it was most transparent that you revealed you had asked yourself “what in the world could I offer?” I feel it’s important that all persons ask themselves this question and that all persons should give back to other people and the world as a whole. In such a labels-driven culture, especially labels that are non-inclusive, it certainly feels like now is the time for anyone who falls under so many different societal categories not to hold back but give wherever they see a need. I also think it is important for the cystinosis community to understand those living with cystinosis are more than just people living with cystinosis but that we are all different because we all fall under so many different identities. You state the differences among adults living with cystinosis much more simply: “Some of us had it easier and some of us had a rougher time during our lives”. While cystinosis gives us all a similarity, cystinosis does not make us all the same. Could you go into more detail about your observations on the discriminations this has brought within the rare disease community?

Todd: Sadly within the community as a whole, we are broken. I don’t mind it when people bash me or insult me on my opinion. It’s written on the walls at every town hall meeting, all of the community posts, the conferences and the various organizations that we all choose specifically to donate to. It feels like I’m back in high school to be honest. You have your cliques and your gangs, the smart groups, the people hanging back in the corners hoping not to be seen or even addressed. It breaks my heart seeing all this division. We all want better treatments , a cure and support right? Why are we fighting the inevitable and not realizing the things we want for this community is going to take all of us! As they say the proof is in the pudding, and it does take a village. When we can overcome together, we can move mountains, but as it is going now we are just moving sand. We all need to leave the hate, the discrimination, and the stupid opinions at the door to truly make real progress. We should show love instead of hate, and we need to be consistent more than ever.

Rebekah: If other people living with cystinosis and/or other families living with a loved one with cystinosis felt their voices were not being heard, what would you recommend or suggest they do for support and future involvement within the cystinosis communities?

Todd: I first would ask what are they currently doing now to support the communities? Are they randomly wishing others with cystinosis well? Are they really concerned about their community and its well being? Why are they involved in the first place? Is it really just for their loved one or do they actually realize it goes way deeper than that ? Do they donate just to feel good about themselves or do they go out and take time out of their lives to understand these studies are not just helping their child but so many others and generations to come.

We all know that this disease is life-altering. But what some refuse to understand or ignore is the family we have at our fingertips. It’s great to celebrate happiness and triumphs with others, but there is more purpose– and that is to grieve together, cry together, and most importantly conquer together.


Rebekah Palmer

Rebekah Palmer

Rebekah Palmer is the author of two books published by Aneko Press: A Letter to my Friend and A Letter to Myself. She also has poetry included in the anthology Strength: Lives Touched By Cystinosis. She is a rare disease news curator for her blog Cystinosis Society. Please visit her author profile on Goodreads and her author page on Facebook called Jairus Daughter to ask any questions or to reach out.

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