Don’t let the label fool you: A rare disease diagnosis isn’t actually so rare.
About 10% of the U.S. population lives with a rare disease or disorder, which equates to about 30 million people nationwide. If you broaden the scope, 350 million of the more than 7 billion people in the world are estimated to live with a rare condition.
With such a large pool of people affected, chances are you probably know someone with a medical diagnosis considered out-of-the-ordinary.
For those living with rare conditions, navigating a diagnosis can be tricky due to lack of research and reliable treatment. Often, rare diseases stump even the most knowledgeable doctors, with experts on rare diseases few and far between — if they exist at all. In the midst of this often overwhelming reality, the need for advocacy and support is essential.
— Global Genes™ (@GlobalGenes) December 3, 2015
Feb. 29 is Rare Disease Day, a chance to bring awareness to the more than 7,000 rare diseases and disorders worldwide. It’s also a call to action. There’s a lot to tackle within the rare disease community, from the need for more medical research to the day-to-day obstacles facing those impacted.
Needless to say, thoughtful advocates are always needed — on Rare Disease Day and beyond.
To meaningfully support those living with rare diseases and disorders, consider these nine tips from people within the community.
How to support someone close to you
1. Trust those with rare diseases and disorders to know their needs.
Our health care system focuses largely on accommodating patients with the most common diseases and disorders — but that leaves those living with rare conditions a relative mystery. Often, being a rare disease patient means you can’t even rely on doctors to know your needs due to knowledge gaps. So, often, patients become the experts of their own care.
“Patients who have the disease are generally the ones who have done the most research,” Ilana Jacqueline, managing editor of RARE Daily at advocacy organization Global Genes, tells Mashable. She also has primary immune deficiency disease and dysautonomia.
We often rely on medical professionals to give us all the answers when it comes to a diagnosis. In the case of rare diseases, things shift to become more collaborative. To be an active supporter, trust a rare disease patient to know the condition best. Often, they do.
2. Just listen — it’s more radical than you think.
Having the label of “rare” means you are an anomaly — and, unfortunately, anomalies are often ignored. In a medical community that can often seem unaware of your needs, having supporters who actively listen can make all the difference.
“Many patients and families are very isolated,” Lara Chappell, communications director of European rare disease advocacy organization Eurordis, tells Mashable. “It can be very trying to have a disease or disorder that people don’t know very much about. Breaking isolation is very important.“
Take the time to practice active listening when you’re chatting with someone who has a rare disease or disorder. Let them steer the conversation — and refrain from shifting the focus to you or others.
Julie Flygare, a narcolepsy advocate and founder of Project Sleep, says this type of listening has made all the difference in her experience with narcolepsy.
“Often what I need most is simply to feel heard,” she tells Mashable. “Being able to vent to a friend makes me feel like I matter — and that I’m not invisible.”
3. Do your own research.
Someone who has a rare disease or disorder is constantly educating others on their condition. Whether it’s strangers on the street or folks in white lab coats with PhDs, it can get tiring, repetitive and frustrating. As an advocate, it’s your role to help make things a little easier — and that means helping to alleviate this burden.
“It’s really important to take time to educate yourself,” Mary Dunkle, vice president of educational initiatives at the National Organization for Rare Disorders says. “If someone close to you gets a diagnosis, the best thing you can do is learn as much as you can.”
But when studying up on rare conditions, information can often be scarce or conflicting. When this happens, have a conversation to get clarity — but don’t confuse that conversation with a schoolroom lesson. Be sure to bring research, thoughtfulness and sensitive curiosity to the table when asking for clarification. Not only will it help inform your point of view, but it will also help the person you are wanting to support see the effort you are putting in — and that can often be comforting in itself.
“When you find something interesting in your research, ask questions like, ‘Is this similar to how you experience your symptoms?'” Flygare says. “It’s a great way to open an interesting dialogue.”
4. Offer to help with specific tasks — but let them define what will actually help.
Asking for help can be scary. It’s one of the ultimate tells of vulnerability, which is a characteristic we’re taught to avoid. But for those with rare diseases and disorders, help is often necessary when it comes to navigating their condition.
“As a type-A overachiever, it’s hard for me to ask for help,” Flygare says. “If someone offers something specific, I feel like they really do care and I am more likely to open up and say how they really could help me.”
Use your research and your active listening to notice what the person struggles with — then ask if they could use assistance. If they say no to the help you are suggesting, then it’s a no. But even voicing the offer is a way to let them know they can approach you for specific help when needed.
5. Support someone with a rare disease by supporting their caregiver.
Caregivers are frequently a big piece of the puzzle for those with rare diseases or disorders. Their role, Jacqueline says, is simple to define: “Someone needs to be on their game when I’m not.”
Yet, caregiving is often taxing — and many people living with rare disorders and diseases know that. As someone who wants to meaningfully advocate, see how you can help support someone’s network of care by starting a conversation around how you could possibly help alleviate pressure.
“It’s really a relief for me when the guys even just take my husband out for the night,” Jacqueline says. “He gets the brunt of the caregiver work, and I can’t always give him a night out on the town. Knowing his friends can give him an escape is a load off my mind.”
In some cases, Jacqueline says, an advocate could even step in to take on some of the caregiving work — as long as their assistance is approved with everyone involved.
“The more people who offer to help, the less pressure it puts on one person,” she says.
6. Understand the “spoon theory” to better understand those with rare conditions.
Fielding medical appointments, living with symptoms and keeping track of complicated medications is taxing, especially on top of the already tumultuous stresses in life. It all takes an understandable toll on energy and time for people living with rare conditions.
The spoon theory helps make these barriers a little more understandable for people who don’t have to think about energy expenditure. It’s a simple and tangible way to explain what it’s like living with a disease, disorder or disability.
The theory states those with disabilities and health complications are allotted a certain amount of energy — or spoons — per day, while “healthy” people are often given unlimited spoons. Those with limited spoons must strategically decide when to use them to make it through their day — an often complicated and frustrating task.
“The spoon theory is now part of my everyday vocabulary with my loved ones,” Flygare says. “We just talk in spoons.”
For people with rare diseases and disorders, the explanation can help them communicate to others why they simply may not be “up for it” today, without the frustration of miscommunication.
“I can say to my best friend, ‘I have no spoons left today,’ and she knows exactly what that means and how that affects our plans,” Flygare says. “It’s the single most life-changing communication tool for me.”
How to support the overall community
7. Support organizations working on rare disease research.
— NLM SIS (@NLM_SIS) February 24, 2016
Research on rare diseases is, well, rare. With most of the focus and funding on diseases that impact the most amount of people, diseases impacting 200,000 or less people nationwide are considered to be lower priority.
“Most rare diseases currently don’t have treatment — and most of them have no research at all being done,” Dunkle says.
Though there are few nonprofit organizations doing general rare disease research, there are many research organizations working on specific rare conditions. Take the time to find an reputable organization that serves a condition you want to help address, or donate to a specific research effort through the National Organization for Rare Disorders (NORD).
But keep this in mind: Around 50% of rare conditions do not have an organization specifically working to help spread awareness or fund research. Your advocacy work may mean pushing for research to exist at all.
8. Support orgs working on patient advocacy.
— NORD (@RareDiseases) October 15, 2015
Especially when tackling rare diseases and disorders, patient advocacy organizations are essential to amplify the needs of the relatively few. These organizations help facilitate understanding and awareness, which is lacking in the rare conditions space.
“The innovation providing future cures is not so much driven by raising funds, but rather by rare disease parents and caring scientists who seriously understand that every person deserves a chance to live out their dreams,” Jonathan Monkemeyer, a rare disease research and patient advocate, tells Mashable.
Patient advocates are essential in getting the narratives of those with rare conditions into public conversation, hopefully resulting in more value placed on those who are living with a rare diagnosis. Global Genes, for example, is the largest nonprofit global patient advocacy organization, supporting people over a wide range of diagnoses with initiatives.
To find other notable patient advocacy organizations, visit here for U.S.-based groups. For international groups, visit here for general rare disease groups in developed nations, and here for various organizations working on rare disease patient advocacy globally, including in developing nations.
9. Help support patients’ travel and medical costs.
— NORD (@RareDiseases) September 9, 2015
Due to knowledge gaps in medicine, sometimes the best care for rare conditions can be hard to access — mainly due to cost. Basic health care is already inaccessible to many in the U.S., with low-income families often left in worse health than those who are thriving financially. Couple this with the financial cost of having a rare disease, and many are facing compounded issues in medical care accessibility.
“There are a limited number of experts — sometimes just one or two for these rare diseases,” Mary said. “Travel is often necessary to participate in clinical trials, but even assistance for medications and copays can make a difference.”
To help curb blocks in access, NORD has a patient assistance program to help fund medical costs, including travel, medication and copays. To learn more about the fund or to give to the assistance program, visit here.