Isabel Jordan is a mother and health advocate for those with rare disease. Today, February 29, is Rare Disease Day (which, on leap years is held on the 28th!), and I’m excited that she’ll be sharing her perspective with us, as the mother of a child who has an undiagnosed, rare disease.
KM: Tell us about yourself.
iJ: I’m the Board Chair of the Rare Disease Foundation and mom to 2 kids. I live in a small coastal town in British Columbia [Canada]. I never knew I loved skiing until I took it up for ‘the kids’ sake’ and then I became addicted. I’m lucky that I have an undergraduate degree in science because it gave me just enough science literacy to try to keep up with the medical information that is necessary in our life. I love all things nerdy – science, science fiction, and love to share it with my kids.
What’s your connection to rare disease?
When my son was 4 years old we were sent to Medical Genetics after an almost 3 year search to try to find a explanations for his small stature, speech delay and variety of other issues he was dealing with. We were told he likely had a genetic disorder, but that they had no diagnosis for us. When he was 6 we found an ultra-rare bone tumour in his jaw that led to the removal of his right mandible. We assume that it’s linked to his short stature and his undiagnosed rare disease, but without a diagnosis, there’s no way of knowing. We were very fortunate that after a very difficult surgery and post-op period, we were connected with a group of parents, health care providers and volunteers that were looking to make difference in the world of rare disease care in Canada. Out of that, we formed the Rare Disease Foundation 8 years ago.
What’s a typical day look like—if anything is even typical!
Every day is different. Without a diagnosis and managing a changing health landscape means that we do a lot of problem solving. I research online to try to find new ideas of how to help my son. Right now, we’re doing a lot of home-schooling (when he’s up to it) because school has become too difficult. We’re trying to find adaptations in the community that will help with daily life, but because we have no prognosis, we can’t really plan ahead, we just deal with what comes and try to make things better as we go. There are a lot of appointments, accomodations. We also try to have fun as a family, as much as we can. It’s hard not to have the daily stress of rare disease take over your life. It can be horribly overwhelming and finding family time, personal time is really important. But so, so difficult.
What has it been like as a parent of a child with a rare disease, and without a diagnosis?
Honestly, it has varied. Getting services is a challenge. Before we connected with other parents, we were adrift. We didn’t know about financial and social services that could have been a great help to us and frankly, we missed the boat. I don’t want to see that happen with other families, other patients. Medically, I feel like we spend our lives waiting for the shoe to drop and then reacting, rather than being proactive with his health. It’s a vulnerable feeling. For him, I wish that he could connect with other kids his age with whom he could relate, that share a similar path, similar troubles. Everyone needs to feel like somebody gets them. I feel like a diagnosis would be the beginning of a path forward for him to find others and maybe to find answers.
Since finding a community of other parents in the rare disease community it has been better. I wish I had it earlier on, but I’m grateful for what I have now. They teach me so much and lend me so much support. I want that for my son, with his peers as well.
Tell us more about the Rare Disease Foundation—what’s your role, what are you currently working on, and what do you hope to see happen in the future?
I’m Board Chair and I’m one of the people leading the charge in growing our Resource Network growth (our peer to peer support groups). We support rare disease research through our Microgrant Program and families supporting and mentoring one another through cross disease resource networks. We also have held Sibling Workshops, family picnics and Rare Disease Day events. We’re in a period of expansion right now and we’re figuring out how to support that and grow our fundraising to make sure that our community can get better connected and help each other more. I’d like to put the supports in place to make those peer-to-peer connections, not just for parents, but for adults with rare disorders. We’re not doing it now, but hopefully, increased capacity will allow us to grow into that space.
Is there anything else you’d like people to know about rare disease, or your experience with rare disease?
Peer support has been a huge support for me. That may come as a big surprise because as an undiagnosed family, there is no-one else just like us. However, our community of rare, even though it has a diversity of diagnoses, shares the same frustrations in the health care, social service and school system. We also share similar stories in dealing with a public that doesn’t always understand or cope with our struggles. My rare community has been such a huge help to me once I’ve found it. It’s family.
I’d also like to say that for many of us, complex care is a key to managing a complicated medical life and so few of us have access to it. We juggle several specialists, OTs, PTs, SLPs, therapies and it’s a lot to keep in check, especially given that we don’t have access to our health records. Having a clinic that can take lead on lassoing it all together is a huge stress relief. Rare Disease patients, families, need access to someone that can help coordinate their care. The toll on the caregiver and patient is immense.