5 Ways Developing A Rare Disease Can Change You

From Lady Gaga to yourself, rare diseases can affect anyone and can be extremely debilitating. Lady Gaga, who has synovitis, has had to cancel parts of two tours, in 2013 and 2018, due to severe pain associated with her disease and the need for surgery in 2013. In a statement posted to her Instagram in 2018 following her announcement that she had to cancel shows, Lady Gaga told her fans that she “love[d]” them, but her pain was “beyond [her] control.”

The Genetic and Rare Diseases Information Center defines a rare disease as a condition which affects less than 200,000 people in the United States. There are an estimated 25-30 million Americans living with a rare disease, and there are around 7,000 rare diseases. People living with these rare diseases face unique challenges, according to the Genetic and Rare Diseases Information Center, as drug companies are not eager to create treatments that only serve a limited population, and many rare diseases are not tracked.

When I was 18, I developed a rare disease, urticarial vasculitis. I am not able to say whether or not this disease truly fits under the definition that Genetic and Rare Diseases Information Center gives, as there are not researched estimates into how prevalent this condition is. While the impact of a rare disease on one’s life may vary, my urticarial vasculitis has had a substantial impact on mine. Rare diseases can change a person and their lifestyle, and below are five possible ways.

1. You have to become your own self-advocate

If you have a rare disease, just by the nature of how uncommon the condition is, you may be forced to become your own self-advocate in seeking the best medical treatment. According to the National Organization for Rare Disorders (NORD), only five percent of rare diseases have treatment plans. Consequently, most rare disease patients will have to speak up for themselves on what they want to try to manage their disease.

In an article for The Mighty, rare disease patient Cynthia Murphy described how she was forced to start advocating for herself in order to live a fulfilling life.

“I wasn’t born an advocate for Treacher Collins syndrome (TCS), and if anyone had asked me what I wanted to be when I grew up (which few people did), it would have been the last thing to cross my mind. Like others with disabilities, I was just trying to survive and lead a normal life by pursuing my educational studies and working full time.”

2. Your relationship with your body changes

Rare diseases have some sort of impact on your body, depending on which disorder, and the treatment can too. With urticarial vasculitis, I regularly break out in hives, have severe stomach pain, feel like my limbs have gone numb, and have swollen lips. It is safe to say I am not happy about this, nor am I happy with the swelling I get and extreme emotional side effects I get while on steroids.

Model Shanti Tilling described to Shape how developing a rare disease had dramatically changed her physical appearance.

“I’d been suffering stomach pains and exhaustion for months, but it wasn’t until a client’s husband, an oncologist, saw my stomach bulge (it almost looked like I had a third boob!) that I realized I was in serious trouble. He told me I needed to see a doctor immediately. After a slew of tests and specialists, I finally got my answer: I had a rare type of pancreatic tumor. It was so big and growing so fast that, at first, my doctors thought I wouldn’t make it.”

3. You may be in “undiagnosed” limbo

I was in “undiagnosed” limbo for fifteen months. Doctors could not figure out what was causing me to get so sick, and I was tested for everything from lupus to HIV. While the tests themselves could sometimes be painful, what was worse were my symptoms and not knowing what was causing me to become ill. Unfortunately, it seems I was fortunate when it came to how long it took me to get a diagnosis.

According to Shire, rare diseases take on average 4.8 years to be diagnosed worldwide. This is particularly dangerous because thirty percent of children with rare diseases die before the age of five – many before they even receive a firm diagnosis. On average, patients see slightly more than seven doctors before they receive a diagnosis.

4. You realize who your friends really are

Like with all hardships in life, you truly realize who your friends are when you are at a low point. Developing a rare disease made me truly appreciate the friendships that I have and made me see which friendships are fickle.

In an article for The Mighty, Macy Doverspike, who has Ehlers-Danlos Syndrome, spoke about how important her friendships were to her when she was trying to get a diagnosis and in the present through treatment.

“In the early years of my symptoms (Seven years ago?! What?!) when I was bouncing around from doctor to doctor and no one could figure out what was wrong, you never doubted me. You never even considered that it was all in my head. So many people did. So many people thought I was faking it or trying to get attention. But you never did. You supported me.”

5. You may be forced to make financial sacrifices

Rare diseases can be a major financial burden to rare disease patients and their loved ones. According to Raremark, these costs include direct healthcare costs, like medications, direct non-healthcare costs, like professional caregivers, and indirect costs, like not being able to work.

Raremark cites a study entitled Rare Disease Impact Report to show the astronomical costs that a rare disease places on patients and healthcare providers.

“For example, the average estimated annual cost for a person living with a rare blood disorder called hemophilia is €117,000 ($131,111), which is the same as approximately €7.8 ($8.7) million across their lifetime (Belgian data). For people with spinal muscular atrophy, average annual costs have been estimated at €70,566 per person ($79,143).”