Dealing With A Rare Disease: Turning Anger Into Action


Like most mothers-to-be, I waited for my daughter to be born with the usual mix of anticipation and hope. I couldn’t wait for her to arrive, and I dreamed that she would be healthy and happy and full of spirit. I could never have anticipated that my experience would propel me to learn about a rare genetic disease that I had never heard of before. Or that my daughter would inspire me to become something I never even dreamed of – a patient advocate for others who might be affected by familial chylomicronemia syndrome (FCS).

The path from parent-to-be to copresident of a new patient advocacy organization has been filled with many personal and emotional challenges. I had to learn a lot fast. I especially had to learn that I could not take “we don’t know” for an answer, not when it came to my daughter’s health and not when it came to helping others. And I do hope that my experience will help others affected by FCS and by other rare diseases and conditions where there is not much information or support available.

013My daughter Giuliana was born in December 2012 after a relatively uneventful pregnancy. I was prepared for the usual event-filled role as mom. I was so excited. And I didn’t think much about it when Giuliana developed a cold at just three weeks old. Babies get colds, right? When the cold worsened and she had trouble breathing, we took Giuliana to the emergency room. During routine blood work in the ER her blood came out milky pink and thick instead of a normal healthy- looking bright red. The nurses exchanged glances in front of me and I knew something was not right. While they continued to treat her labored breathing they called in lipid and metabolic specialists to try to determine the cause. She did have very high levels of triglycerides, a type of fat found in the blood, with lab numbers around 24,000. For comparison normal triglycerides are around 150.

With the names and numbers of specialists, we returned home with an unconfirmed diagnosis of lipoprotein lipase deficiency (LPLD) but still had very little answers. Ten days later Giuliana developed a very high fever. She was not eating, was vomiting and experiencing severe pain associated with pancreatitis as well as kidney and liver infections. We were immediately admitted back to the hospital where she received days of IV fluids. I was asked to terminate breastfeeding, which was devastating and hard to reconcile. She was treated with a special formula which she initially refused, adding to our stress and angst, and she remained in the hospital for a week. Doctors considered doing surgery, but again there were no clear answers or reasons why. At this point I started doing research on my own, trying to find a doctor who could help. With so little information available I emailed anyone whose name was associated with any research concerning LPLD, begging them to talk me through our options concerning treatment. It felt like no one could tell me what I wanted to hear: will Giuliana be alright? We finally found a geneticist at Boston Children’s Hospital who ran some tests and confirmed that she had LPLD, which would be causing elevated lipid levels in her blood. This was also the first time I heard the term familial chylomicronemia syndrome (FCS), which is a term used to describe LPLD and the other mutations that can cause this syndrome.

In the body, an enzyme known as lipoprotein lipase (LPL) works to break down triglycerides (fats). FCS is a condition where LPL is genetically decreased or does not function properly. As a result, there is a buildup of triglycerides in the blood that can increase the risk of severe abdominal pain and potentially fatal attacks of pancreatitis. It is also sometimes known as Fredrickson Type 1 hyperlipoproteinemia and familial  hypertriglyceridemia. We learned that most patients take steps to reduce their risk of pancreatitis through lifestyle changes including strict diet modifications.

By the time she was diagnosed, Giuliana was nine months old. Through speaking with many doctors and doing my own research, I learned that there are no drugs approved to treat FCS. One of the few things patients can do after a diagnosis is to strictly limit the amount of fat in the diet, and adopt other healthy lifestyles like staying active, managing stress, and keeping hydrated to avoid attacks. At this point we at least had an explanation for our daughter’s frequent pain.

The effort to limit fat in her diet has been challenging, and it remains a constant focus in our lives, but it seems to be working. Simple activities like holidays, birthday parties, school events and spontaneous dining out can cause a lot of stress and require a lot of planning. She still experiences frequent stomach pain, but has not had a pancreatitis attack and has not been hospitalized because of her FCS for several years. She will celebrate her fourth birthday in December 2016.

As with any parent who has a child with a serious illness, our experience has had a significant impact on our entire family. My son Christopher and my youngest daughter Catherine do not have symptoms of FCS, but they will of course always be a part of our effort to help her maintain Giuliana health as she grows up. And in my research, I learned quickly that for FCS and for many other very rare diseases and conditions, it often takes years for patients to get a proper diagnosis. There can be very limited information and few support services available.

These circumstances also force any parents to think about the future for their child. Will she be healthy? How will this disease affect her development? Will she have a good quality of life? Once again, with no treatments available, doctors were not able to offer much counsel or comfort regarding what the future would hold. We felt like we were on an island alone just waiting for someone to rescue us. We were mourning the life we thought she’d have while accepting a lifetime of a life threatening diagnosis we never asked for. It was a challenging time.

The fact that we had a diagnosis did eventually bring us an opportunity that has led to many positive developments. Through an online forum called, in 2015 we were invited to participate in a first-ever advisory board meeting that included several families affected by FCS. For the first time, we met a small group of families who faced similar challenges in their path to diagnosis and their efforts to get information and support. While before I felt like we were facing this challenge alone, almost instantly with this meeting, I felt a sense of relief. Here were other people who understood what we were going through. Even more than speaking with medical experts, talking to other parents and patients living with FCS provided us with insights and comfort we had never experienced before.

In addition to meeting families, we also learned about research that could help people with FCS in the future. But despite these signs of hope, the reality was that there was still very little information and very few services available for families affected by FCS. I was angry and frustrated, but I decided that I should channel those feelings into something positive for my daughter and for others affected by FCS.

The FCS Foundation is in its infancy, but the near-term goals are to build broader awareness of familial chylomicronemia syndrome that can help more doctors and other healthcare workers to be familiar with FCS and to help more patients get a proper diagnosis faster.


Through this process, I came to know Lindsay Sutton a young woman who was living with FCS. Her story was very similar to Giuliana’s. She shared many of my frustrations from her own efforts to get information about FCS. She too wanted to help others who might be facing the same challenge. So together we decided to co-found the FCS  Foundation, the first ever patient advocacy organization dedicated to supporting individuals and families affected by FCS.

The FCS Foundation is in its infancy, but our near-term goals are to build broader awareness of FCS that can help more doctors and other healthcare workers to be familiar with FCS and to help more patients get a proper diagnosis faster. We will develop a range of both educational materials and support services. We will also work to support research targeting new treatments for FCS.

From our own experiences, we know firsthand that there is a critical need for the information and support that The FCS Foundation can provide. People are still being misdiagnosed and many are suffering as a result. Many parents will be searching for the answer to the question I had for Giuliana: Will they be okay? In most cases, patients may be at risk of developing severe and even fatal attacks of pancreatitis. Even though there are no approved treatments, there are steps patients can take to reduce their risk – but they need a diagnosis first. And they need easy-to-understand information on how to protect their health.

The developments over the past year have given our family new hope about the future. And this makes the work of The FCS Foundation even more important. There are reasons to be optimistic, and there are many important reasons for families to join together to share information and support. I am hoping that our family’s experience can lead to support that can make the journey easier for other families in the years ahead. And I want to make sure that the information and support that can bring Giuliana and other people affected by FCS will be available when they need it. This wasn’t the life I envisioned but I realize now it was the life I was meant for. •

Melissa Goetz lives in Albany, NY with her husband and three children: Christopher, Giuliana and Catherine. She helped found the first ever patient organization for a disease called familial chylomicronemia syndrome (FCS) on behalf of her daughter Giuliana who was diagnosed with FCS at 9 months old. The FCS Foundation is a nonprofit dedicated to providing information and support for others affected by FCS. You can learn more at the foundation’s website:

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