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Loving Someone Rare

My husband is one of the 30 million Americans living with a rare disease.

His disease, Fanconi Anemia, (FA) has no color recognizable by the general public. You can’t buy cereal or water bottles or winter hats at your local Target to support its cause. Professional athletes don’t wear colorful sneakers to raise awareness on its behalf.

Upon hearing about Fanconi Anemia for the first time, well-meaning people searching for something with which to connect, pounce on the word “anemia,” making comments about how iron pills should probably help and how their uncle was once anemic, but is now doing just fine.

Even medical professionals are often unaware of the disease, though some remember the one question on their board exams that mentioned it.

Ten years into being a caregiver for a person with Fanconi Anemia, I can say without a doubt that I am grateful that this disease is rare. The effects of FA are devastating and I don’t want the numbers of people who live with it to be any larger than they currently are.

And

There are ways in which caregiving, an already incredibly challenging role, is made even more difficult when your person’s disease is rare.

All those cereal boxes, water bottles, and NBA sneakers raise funds. Funds for research and resources so that treatments can be improved upon, medical centers can be well-equipped, and family support can be provided.

By contrast, in the rare disease community there is more pressure on the families to organize fundraisers if they want to move the needle towards a cure. Holiday letter appeals are written, 5ks and bake sales are organized – all on top of caregiving for the person living with the disease. Even when beautifully executed, these grass roots appeals can fall on deaf ears due to lack of awareness of the disease. I mean, how expensive can a few iron pills be after all?

In addition to funds, it can be hard to gather support or even a level of sympathy when the people in your life have no reference point for the disease with which your family is living. If I was to say to a new colleague or neighbor that my husband has pancreatic cancer, there would be an immediate level of understanding about the severity of the illness, what treatment may entail, and what needs we may have, because the listener would likely have some experience with that disease. On the contrary, when I say, “My husband has a rare, genetic disease called Fanconi Anemia,” the listener’s brain searches in its schema files for some sort of reference point. Finding none, iron pill comments are made or the subject is changed.

Fundraisers and awkward conversations while hard, are a mere nuisance in comparison to being treated by a medical team that has little to no knowledge or experience with the disease from which your loved one suffers. As a caregiver, this means I, not medically trained, need to do and stay current with research, protocols, signs and symptoms for which to watch, and find myself needing to educate his team and to advocate on his behalf. Most families living with Fanconi Anemia and other rare diseases need to travel great distances to be seen and treated by teams who are equipped to help. But even when working with those who are experts in the field, there are often no clear paths, since being rare often means being the first of your kind. With no trails blazed before us, significant treatment decisions are left to us to research, coordinate, and decide upon using the few, if any statistics that exist.

Our family is fortunate to be connected with the Fanconi Anemia Research Fund, whose team works with dedication, passion, and compassion to move that needle towards a cure, to support families in educating their medical teams about the ins and outs of the disease, to coordinate experts in making decisions about treatments, and to intentionally recognize and support caregivers.

If you have rare disease organization that is meaningful to your family, today, Rare Disease Day, is a great time to make a donation and to thank them for all they do. If you don’t, I invite you to donate to the Fanconi Anemia Research Fund, whose work each day eases the burden of my role as a rare disease caregiver.

In addition, the next time a diagnosis is shared with you and your schema file search comes up blank, here are some phrases to consider trying:

  • “That’s not something I’ve heard of before. Can you tell me more?”

  • “What does having that disease look like for him on a daily basis?”

  • “What does that diagnosis mean for you, his caregiver?”

  • “Is there a place where I can make a donation to support research?”

Finally, as you see appeals from caregiver friends to take part in a walk, buy a t-shirt, or order some frozen pizzas, know that what they are actually asking for in that moment is recognition that they are caring for someone who is rare, for help in the work they are doing to raise awareness, for financial support to get closer to a cure, and to be less alone on the rare disease path than they are right now. As you are able, buy a shirt, help spread the word, offer to bring snacks to the walk, commend them for this and all they do, and tell them that you see and honor them.

These diseases are rare, but compassion for those who have and care for them doesn’t have to be.

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5 Responses

  1. Your words give me a glimpse of how scary it must be to house the most knowledge, when all you want is someone to help you know what to do next. Thank you for sharing this perspective, it has inspired me to donate in hopes of making the road more traveled.

  2. Thank you, Allison. I always learn something about you and Sean, something about FA, and something about being a thoughtful friend when I read your articles. Keep educating me! I offer prayers and love in return.

  3. Thank you for writing this meaningful article. I am the mother of three rare grown children. We have gone through hell and back only to learn they have an FA type C gene and are clinically diagnosed with SDS. They each have their own issues but I’m certain all connected with this disease. I’m sad I didn’t catch FA nor did any major Children’s hospitals or the five inherited bone marrow failure studies. As a result my early twenties children are frustrated and not being screeed or having their annual bone marrow biopsy and aspirate. Please keep up this research and as their caregiver and mother, I will never stop advocating for them.

  4. This is a beautiful article and I appreciate the perspective as well as what TO say that is helpful. I just want to note, as a person with breast cancer — just because there is a month and a bunch of pink stuff "dedicated" to the cause does not, by an stretch of the imagination, translate into $$ for research. In fact, "pink washing" as it is known is more often just a cash grab and marketing ploy. Before being diagnosed I assumed BC was allllllll good and figured out thanks to October. Im 35 and Stage IV. It’s not figured out.

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