Rare Disease Day 2019 #FacesOfRare

Rare Disease Day

In the United States, a disease is considered rare if it affects fewer than 200,000 people. But did you know that there may be over 7000 different rare diseases in the world? That makes rare diseases a bigger problem than they might seem.

Rare Disease Day is celebrated each year on the last day of February to promote awareness, raise money for research, and bring communities together to recognize the support that numbers can provide. On Rare Disease Day in 2019, the Faces of Rare project put rare diseases on a grand scale, literally.

About The Project

Faces of Rare—it’s time to talk about rare diseases in a big way

On Rare Disease Day in 2019, we shared the stories of different people affected by rare diseases in a way that could not be ignored. Portraits of people living with a rare disease were projected in a larger-than-life format on the side of Boston City Hall Plaza.

This initiative aimed to raise awareness for rare diseases and get the general public involved in the conversation—we can all do our part to help raise awareness. You can join the conversation on social media with #FacesofRare.

Meet The People

Meet Diane

A daughter, sister, friend, and advocate living with familial chylomicronemia syndrome (FCS)

But, most importantly, Diane is a FIGHTER.

Meet The People

Meet Diane

A daughter, sister, friend, and advocate living with familial chylomicronemia syndrome (FCS)

But, most importantly, Diane is a FIGHTER.

Diane’s journey started when she was 4 years old. She remembers spending the better part of her childhood in a hospital bed or sitting on the sidelines while other kids played. Without a diagnosis or friends who understood what she was going through, Diane felt alone. “…When you’re a kid, you don’t really know what’s going on…you think you’re weird, [you wonder] why doesn’t anyone else have this?”

In addition to the emotional pain, Diane has endured a great deal of physical pain, including countless episodes of pancreatitis. “[With pancreatitis] you have excruciating pain, you’re nauseous, and when you’re finally discharged from the hospital, you still don’t feel good.” But before doctors recognized that Diane was experiencing pancreatitis, she underwent more than 30 exploratory—and unnecessary—surgeries on her stomach, alone.

Diane’s mission was to find out what was causing her to be sick. After searching for a diagnosis for almost 60 years, she finally learned she had been living with FCS all her life. Diane credits her cardiologists with giving her a new perspective and helping her see that she’s not alone. “…She made me feel so much better about myself because there are other people out there…to know there are 5000 people [with this disease] in the world, to me, is amazing.”

Now, Diane’s mission is to help others living with a rare disease. “…now what can I do to help somebody else so that they don’t have to go through what I went through?”

Meet Francesca

A daughter, athlete, student, and friend living with familial partial lipodystrophy (FPLD)

But, most importantly, Francesca is BRAVE.

Meet Francesca

A daughter, athlete, student, and friend living with familial partial lipodystrophy (FPLD)

But, most importantly, Francesca is BRAVE.

Francesca lived with symptoms of lipodystrophy for many years before she actually had a name for the disease. She was diagnosed with insulin resistance, nonalcoholic fatty liver disease, and diabetes throughout her childhood before receiving the diagnosis of FPLD. When she first learned of her diagnosis, Francesca was understandably scared. “The longer I thought about it, the more unsure I became,” she said. “I just felt helpless.”

Physical differences are characteristic of FPLD, and she was bullied as a child. Unfortunately, she knows others with this condition have experienced the same. She shares, “I may not look as outwardly sick as I am, but the burden is immense.” Francesca believes it’s important to treat everyone with respect—and that’s how she lives her life.

Through everything, Francesca has not let her disease or anything else get in the way of living her life. She’s used some of the physical changes to her advantage. “It gives me more of a muscular and strong build to compete in track and field,” she says, “and I do my best to not let [the disease] get in the way of my love of singing and performing in musical theater.” She’s also very focused on school and is planning to attend college for a career in the medical field.

Francesca has used her positive spirit to move forward and set goals for herself. Francesca has used her positive spirit to move forward and set goals for herself, like her spring play in 2019. She always focuses on doing what she can to help others like her. She would tell someone in her shoes, “Things will be difficult, and unfortunately, that’s the reality, but you’re not alone. Sometimes you will feel like you’re not strong enough, but I promise that you are.”

Meet Bella

A sister, dog lover, daughter, and friend living with Morquio A syndrome

But, most importantly, Bella is KIND.

Meet Bella

A sister, dog lover, daughter, and friend living with Morquio A syndrome

But, most importantly, Bella is KIND.

Living with Morquio A syndrome is nothing new to Bella—she was diagnosed when she was just 2 years old. “I grew up with it, so I don’t know what it’s like to not have it.”

For Bella, this is the only journey she has known—and it hasn’t been an easy one. “I’m in the hospital at least once every week for doctor’s appointments. It’s hard to keep up with school and all that.” But it’s not just the hospital visits and appointments that Bella struggles with. She says that people sometimes treat her differently because she has Morquio A syndrome. “I want [people] to see me, not my disease.”

In spite of all this, Bella has a positive outlook and is wise beyond her years. “[The most important lesson I’ve learned] is patience, I guess. Because I know if I just got out of surgery, it’s going to get better and it’s going to help me.”

Fortunately for Bella, her friends, family, and her support dog, George, help get her through the tough times. She credits her sister, Gabi, with keeping her spirits high. “She makes me laugh. We play games together.” And having been on this journey all her life, Bella has some words of encouragement for others who may be going through something similar. “It’s going to get better…you’re going to get healthier.”

But perhaps the best advice we can all take from Bella is to remember to be empathetic and kind. “You never know what someone is going through. Always be kind to people.”

Meet Arista

A twin to sister Arielle, daughter, wife, and friend living with hereditary angioedema (HAE)

But, most importantly, Arista is SUPPORTIVE.

Meet Arista

A twin to sister Arielle, daughter, wife, and friend living with hereditary angioedema (HAE)

But, most importantly, Arista is SUPPORTIVE.

Arista first learned about her diagnosis of HAE in a way you wouldn’t expect. In fact, she didn’t feel sick at all. It was her twin sister Arielle who had been dealing with the unpredictable swelling attacks of HAE for a few years without any answers. Because they are identical, Arista received her own diagnosis—with a little bit of shock.

Arista’s sister, Arielle, has had a tougher time with HAE over the years with more severe and frequent attacks. “The hardest part of having HAE is watching my sister struggle,” Arista said. “But the best part is that we have each other. Being a twin is special in its own right, but knowing that she can take care of me and I can take care of her is truly something special.”

Arielle couldn’t agree more. “I’m a nurse, so I can take care of myself. But I am also fortunate to have an identical twin sister who is extremely helpful and supportive.”

Arista is in the midst of a really happy time in her life, so it can be difficult to remember to slow down and take care of her health. “I’m 28 and young, and I want to do what others are doing,” she shared. “But I need to listen to my body to prevent myself from getting sick.”

Through it all, Arista appreciates the perspective that HAE gives her. She likes to tell herself, “You can’t enjoy sunshine without some rain. I can’t always be healthy, but when I am, I need to enjoy every minute of it.”

Arista thought about what it means to have HAE, or any rare disease, and she truly doesn’t like the word “disease.” “It makes you sound like you are infected,” she said. “But that’s not true. You are a person and deserve more than what your disease has to offer. Just look at the definition of rare—not found in high numbers. Your rare disease makes you special, high value, and unique.”

Meet Christian

A son, brother, and friend living with hemophilia A

But, most importantly, Christian is HOPEFUL.

Meet Christian

A son, brother, and friend living with hemophilia A

But, most importantly, Christian is HOPEFUL.

Christian and his family have known about his hemophilia A diagnosis since he was just 2 weeks old. Hemophilia, a blood clotting disorder, often runs in families and his grandfather had the condition as well.

His parents were understandably very careful with Christian as he was growing up, knowing that any bumps or falls could result in a trip to the emergency room. “As a kid, I always wanted to play hockey and wasn’t allowed for obvious reasons,” Christian said. “I finally got fed up with hearing ‘no’ and asked why. That’s the first time I remember a serious conversation about exactly what hemophilia is.”

He still is thankful that his parents let him be involved in a lot of other activities growing up, so he didn’t fully miss out. He shared that they did a really good job of still letting him be a kid—which sometimes means making mistakes and learning from them. “It helped me gain some perspective,” he said.

Throughout his childhood, Christian met other kids who are living with the same condition. He has built lasting friendships through the tight-knit community. “Hemophilia has opened up so many doors for me and brought so many people into my life and the lives of my family,” he said. “I think it’s really made us better people.”

Christian reflects on all the progress he’s seen in his lifetime. “The hemophilia community is really lucky, in a way, to have been on the forefront of research,” he said. “But there’s so much that can happen scientifically for any rare disease in 2019. There’s hope for everyone.”

Rare Disease Day

Faces of Rare—it’s time to talk about rare diseases in a big way

Meet Diane

A daughter, sister, friend, and advocate living with familial chylomicronemia syndrome (FCS)

But, most importantly, Diane is a FIGHTER.

Meet Diane

A daughter, sister, friend, and advocate living with familial chylomicronemia syndrome (FCS)

But, most importantly, Diane is a FIGHTER.

Meet Francesca

A daughter, athlete, student, and friend living with familial partial lipodystrophy (FPLD)

But, most importantly, Francesca is BRAVE.

Meet Francesca

A daughter, athlete, student, and friend living with familial partial lipodystrophy (FPLD)

But, most importantly, Francesca is BRAVE.

Meet Bella

A sister, dog lover, daughter, and friend living with Morquio A syndrome

But, most importantly, Bella is KIND.

Meet Bella

A sister, dog lover, daughter, and friend living with Morquio A syndrome

But, most importantly, Bella is KIND.

Meet Arista

A twin to sister Arielle, daughter, wife, and friend living with hereditary angioedema (HAE)

But, most importantly, Arista is SUPPORTIVE.

Meet Arista

A twin to sister Arielle, daughter, wife, and friend living with hereditary angioedema (HAE)

But, most importantly, Arista is SUPPORTIVE.

Meet Christian

A son, brother, and friend living with hemophilia A

But, most importantly, Christian is HOPEFUL.

Meet Christian

A son, brother, and friend living with hemophilia A

But, most importantly, Christian is HOPEFUL.

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