Rare is Strong: One patient’s journey to strength

February 27, 2020

There are more than 300 million people living with one, or more, of over 6,000 identified rare diseases around the world. The last day of February is Rare Disease day, which aims to raise awareness among the general public and decision-makers about rare diseases and their impact on patients' lives.

We took this opportunity to sit with our founder, Kristy Dickinson, to get her insights on what it’s like to live with a rare disease and what “rare is strong” means to her.

What unique challenges do you face as a rare disease patient?

“Often times, I know more about my condition than the doctor who is treating me,” Kristy says. Kristy has Ehlers–Danlos syndromes (EDS). According to the U.S. National Library of Medicine, Ehlers-Danlos Syndrome is “a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.”

Kristy describes how the length to diagnosis is one of the greatest challenges chronic illness patients face. “It took me 7 years to get my EDS diagnosis and I know of others who waited close to ten years before they finally received their diagnosis.”

One reason diagnosis can take so long is the lack of access to specialists who are familiar with rare diseases. Patients often feel lucky to find a specialist who has taken an interest in their specific condition and they will wait (and travel) to see that specific specialist. For example, a cardiologist who has expressed an interest in EDS will pursue further disease-specific education and their knowledge will increase with every EDS patient they treat. This interest on behalf of the specialist benefits other patients of the disease but will also lead to longer wait times.  

Being sick and trying to find answers is incredibly difficult. Patients can sometimes be misdiagnosed or they don’t get diagnosis at all. “Healthcare providers are trained to correlate hoof beats with a horse,” Kristy explains. “The problem is that sometimes those hoof beats belong to a zebra.”

For someone with a rare disease, the onus often falls on them to do their own research and push to have their physician make the referrals to other specialists or clinics. “The Internet is a game changer, it lets you connect virtually with people you wouldn’t otherwise know and allows you to find those resources that can help you.”

What tools or tips do you have for navigating your journey? What was most surprising?

“I was most surprised by the resistance that I was met with from different healthcare practitioners who weren’t able to figure out what was going on with me,” Kristy explains. “My idea of a specialist came from ones like on the TV show House: they won’t stop until they figure out what’s happening and what the diagnosis is. However, now having lived the journey to diagnosis, that’s just not the reality of what a patient with a rare disease goes through.”

Kristy learned that she would need to be her own advocate in order to move towards a diagnosis. She took her searches online and joined various communities of others going through similar experiences. Her research helped her find other specialists and health care providers whose information she then took back to her primary physician in order to secure a referral.

“My advice to anyone in a similar situation would be to do your research, find out who the experts are and push your doctors for those referrals.” Kristy does note that, “It’s is important to keep your research relevant to you and to remember that no two patients are the same. You’ll need to learn to sift through, take what applies to you, and not take on other people’s journeys.”

One area that Kristy can’t stress enough is the importance of mental health. “Looking after your mental health is just as important as looking after your physical well being. You don’t know how draining it is to manage an illness until you pause and take a breath.” In an ideal world, a patient with a new diagnosis would be given the opportunity to speak to a therapist.

“There are feelings that come with the journey and diagnosis,” Kristy says. “No one grows up thinking, ‘I can’t wait until I get sick.’ There’s a grieving period as you learn to adapt to your new normal.”

What do you wish other people knew about having a rare disease?

“It’s a two-fold challenge – because of the lack of resources and lack of support. You’ve got a condition and no one knows what to do with you.” Kristy wishes that others realized how much work falls onto a patient or caregiver. A patient with a rare disease will often have to push for treatments or to get into clinical trials.

When someone gets diagnosed with cancer or diabetes, the treatment plan is relatively clear, treatment is accessible and support is in place for the patient and their family. That isn’t always the case with a rare disease patient.

The other point Kristy wishes people understood is the social impact of having a rare disease. If someone has cancer and is going through chemotherapy, their physical appearance changes. A rare disease patient may not have physical changes so it can be difficult for others to believe you are sick. “There’s a lot of stigma around invisible illness,” Kristy says.

Someone with a chronic illness can have days where it takes all of their strength to get out of bed and showered. Outwardly, they may look fine but until you speak with them, you can’t fully appreciate what they’re going through.

“As a society, we’re very much focused on highlight reels,” Kristy explains. “What we tend to forget is that people can look fine but be dealing with enormous health issues.”

Kristy’s wish for Rare Disease Day is that everyone takes a moment to pause and reflect on people they know who may be going through a diagnosis journey or living with a rare condition. “You never know what someone is fighting behind closed doors. You can’t judge the severity of someone’s illness just by looking at them.”

Where have you found your strength?

“I get my strength from my family and my children.” Kristy shares the story of when her own mother received a terminal cancer diagnosis. “I grew up knowing that my mom was very ill and living on borrowed time. I’m acutely aware of not wanting to put that kind of stress on my own children. I get up every day for them, to try and be as present a mom as I can be. My mom never complained when she was sick. She did everything she could to live each day to the fullest. I strive to live that way myself. I am truly grateful for every day that I wake up and am able to get out of bed and be present with my family. Living with my condition has changed my perception on life and what is truly important.”

Kristy also finds strength from the close group of friends she’s made, in particular one friend who is also living with EDS. “Having someone who knows what it’s like and who doesn’t need to tip-toe around me, that’s incredible. I wish everyone had that kind of friendship.”

Kristy is also a strong believer in deciding what your mindset is going to be. “I choose to be grateful for each day. I choose to be positive. It’s impossible to be grateful and sad at the same time. You can find things to be grateful for every day.”

What does "Rare is Strong" mean to you?

“Creating Chronically Simple and having attention on me hasn’t come naturally to me. Sharing the bad parts of my life also doesn’t come easily to me. I’m getting better at it because I recognize that it may help empower other people.

If you can get to the diagnosis, then you are a strong person. It’s never a clear route and you have to fight the entire way. You have to fight for your diagnosis. You have to fight for treatment. You have to fight for your health,” Kristy says. “To navigate the journey and come out on the other end – you are a fighter.”

Kristy doesn’t view herself as being stronger than anyone else, but she does firmly believe that she’s stronger than she was before getting her diagnosis. “The challenges I’ve faced have helped build my character and made me the person that I am today.”