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Why I Decided to Start the First Patient Foundation for My Daughter's Rare Disease

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Giuliana smiling.

Before my daughter Giuliana was born, I envisioned quiet moments feeding her, playing with my then 2 and a half-year-old son and soaking in all those early postpartum moments. I never would have believed that only a month into her life I would be learning about a rare genetic disease I had never heard of before, or that my daughter would inspire me to do something I never even dreamed I could do – starting the first patient foundation for this rare disease in the United States.

Our journey with familial chylomicronemia syndrome (FCS) started when Giuliana was 3 weeks old and developed a severe cold. We had to take her to the emergency room. During a routine blood draw her blood was found to be milky pink and thick instead of a normal healthy-looking bright red. We discovered this was because of extremely high triglycerides (a type of fat) – she had over 20,000 instead of the normal 150. Although this was addressed, it wasn’t until a month later when she was hospitalized with pancreatitis, and infection of the liver and kidneys that we started to realize this was bigger than we thought. Through multiple hospital and doctors’ visits, Giuliana was officially diagnosed with FCS at 9 months old. We learned FCS is a rare lipid disorder that can lead to the risk of severe abdominal pain and potentially fatal attacks of pancreatitis due to the high triglycerides. We also learned there are no treatments available, and that most patients take steps to reduce their risk of pancreatitis through lifestyle changes, including strict diet modifications and eating less than 10 to 15 grams of fat a day.

We felt very alone – there was little information available and doctors could not tell us what Giuliana’s life would be like. Even with a diagnosis, it still took much more time than seemed appropriate to develop a treatment plan. There was no standard of care surrounding this diagnosis. It was difficult to find answers, and most searches yielded high-level medical journals. I spent Giuliana’s early months searching for answers online, anxious and angry about the lack of information, while working and trying to keep our family functioning as “normal.”  I had finally come to terms with the idea that we were on this road alone, and that we’d just have to make due.

However, this all changed when Giuliana was almost 3 years old and we had the opportunity to participate in a first-ever advisory board meeting that included several individuals affected by FCS – the first time we met other people who had the same one in a million disease as my daughter. Finally, we could talk to families who faced similar challenges about their path to diagnosis and treatment, and their efforts to get information and support. It felt like a life-changing moment, and it was.

In addition to meeting other 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. I continued to be anxious about Giuliana’s future and frustrated by the lack of information. Rather than letting those feelings bring me down, I decided I should let them motivate me to do something positive for my daughter and others affected by FCS.

During my experience, I met another woman who was herself living with FCS. Her story was very similar to Giuliana’s. She shared many of my frustrations about efforts to find accurate information about FCS. She also said that she wanted to do something to help others who might be facing the same challenge. So together we decided to co-found The FCS Foundation, the first patient advocacy organization in the U.S. dedicated to supporting individuals and families affected by FCS.

The FCS Foundation is still in its infancy, but our near-term goals are to build broader awareness 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 are working now to develop a range of educational materials and support services for patients and families. We will also work to support research targeting new treatments for FCS.

From our own experiences, we know firsthand there is a critical need for the information and services the FCS Foundation will provide. Lack of an accurate diagnosis is putting many people at risk. And many other parents are searching for the answer to the questions I had for Giuliana: Will my child be OK? What can we do to reduce the risk of pancreatitis? Is there research targeting new treatments? We can help families learn about the risk of developing severe and even fatal attacks of pancreatitis and what steps they can take to try to reduce the risk and protect their health.

Through this journey I’ve realized there are truly good people who want to help and want to know our story and struggle. Although the road to creating a non-profit is certainly not easy, the individuals we’ve already connected with have made this all worth it. We are looking forward to continuing our path to connecting patients, educating doctors and spreading the word about FCS.

Many advances in research 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. With new reasons to be optimistic, it is crucial for families to join together to share information and support each other, no matter what the diagnosis. One in 10 Americans is diagnosed with a rare disease, and bringing awareness to the rare disease journey is important. I am hoping our family’s experience can make the journey easier for other families. I want to make sure that the information and support for 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 is the life I was meant for.

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Originally published: November 3, 2016
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