What I Wish I Could Say to My Rare Disease

Medically reviewed by Peggy Pletcher, MS, RD, LD, CDE on February 10, 2016Written by Kareem Yasin on February 10, 2016
Lindsey Sutton

Lindsey Sutton was only 5 weeks old when people noticed she was having trouble digesting fats. But it wasn’t until after a year of tests and weekly appointments that she got an official diagnosis.

Familial lipoprotein lipase deficiency, or familial chylomicronemia syndrome (FCS), is an extremely rare condition. So rare, in fact, that it only affects about 1 in 1 million people, and is officially classified as a rare disease.

People with FCS lack an enzyme called lipoprotein lipase, which is used to break down fats in the blood. This can lead to pancreatitis, severe abdominal pain, skin lesions, and problems with the liver and spleen. There is no known treatment. 

Rare diseases receive limited funding for research into causes and treatments, mostly because they affect a relatively small portion of the population. But people who have rare diseases still suffer from the effects of having a debilitating illness, and often don’t have a built-in treatment path to follow, or community to share it with.

What is the most challenging thing about having a disease that is considered “rare”?

Lindsey Sutton: I would have to say that the main challenge is not having others who understand the symptoms I deal with on a regular basis. My friends and family make for a great support system, but it’s not the same as connecting with someone who experiences the same issues I do.

What have doctors told you about treatments and therapies?

LS: I know that there is some research being done, but not sure of how much. Currently, there is no FDA-approved therapy that effectively works for me, which is why recognition is so important. I am hopeful that there will be a treatment in the future.

Do you feel like there is a community out there for other people who have FCS?

LS: I have found a small community through RareConnect, which has been helpful. However, I wish there was a way to make the connection between members stronger so that people could speak freely about this disease on the site. As of now, I do not feel like I can talk to anyone on the site about the problems I face with this disease. 

Why Rare Diseases Deserve Your Attention »

I have met a couple of people with FCS and it was an amazing experience. Being able to talk to others who understand exactly what it is like living with this condition was a breath of fresh air. It was one of the best experiences I have had. 

What prompted you to want to write a letter to your disease, FCS?

LS: Someone suggested to me that I write a letter to release some [of the] emotion and tension that comes from not feeling well most days. I had no idea how good it would make me feel to express myself through writing. By doing this, I felt extremely empowered, and it reinforced that this disease does not, and never will, define me. 

Read on to see what Lindsey wishes she could say to her condition.

“Dear FCS,

“We sure have been through a lot together, and after 25 years, I am still trying to figure you out.

“You make my life so hard almost every single day. I cannot go an hour without stressing that, because of you, I am going to get pancreatitis. I worry every single day about the symptoms you may bring, and also how we are going to work together in the future. I want to have children and not have to spend my entire pregnancy in the hospital, and I definitely do not want my children to endure what I have had to. 

“I know that I am nowhere near perfect when it comes to eating, and I am the first to admit when I overdo it. You tolerate it when those brownies look too delicious to pass up — and by ‘tolerate’ I mean you don’t send me to the hospital. But you still make me pay for it the next day.

“I feel like I try and treat you so nicely, but nothing works. Even when I eat perfectly — low carbohydrates, low sugar, high protein, and under 10 grams of fat — you are still unhappy, causing that awful and all too familiar rib cage and scapula pain. I can’t take pain meds 24/7! I have things to do: work, spend time with friends and family… you know, live a normal life. 

“I don’t think you’re aware of how scared of you I am. You scare me more than anything, because you hold my health in your hands. I have been hospitalized more than 30 times, one bout landing me in the ICU. I know that I have caused a couple of attacks with poor choices, but the rest is all you. I know you have heard me cry myself to sleep countless nights, and have felt my anxiety and anger. 

Learn About Amylase and Lipase Tests »

“The worst part is, I have grown so accustomed to feeling crummy every day that I have forgotten that it isn’t normal.

“I have seen the stress and concern that you have caused my parents, especially when I was sick every two months for two years. You have caused us hell — oh, and getting sick on my dad’s birthday a couple of weeks ago, that was really great. We really appreciated celebrating in the ER.

“One of the worst things is that I don’t feel like I have an outlet. When I am feeling really bad, I don’t want to be a burden on anyone. I don’t want people to ever think, ‘Oh, she feels sick again, she never feels well.’ I hate that many people do not understand what it is like living with this disease.

“You have caused me to shut down, even around family and best friends, because I do not like to see them worry about me all the time. You have helped me become a great actress, because I fake how I feel every day. Faking that I feel well is mentally draining, and I hate you for being the root of my health problems.

“But as much as I want to sit here and tell you how much I despise you, I can’t. Although I strongly dislike you, because of you, I have become so strong, an advocate, independent, and incredibly positive. I know that no matter what, you will never stand in my way.

“At the end of the day, you are a part of me, and I hope that as time continues, we can learn to better work with one another, instead of against. 

— Lindsey” 

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