Fiona Waddell embraces Rare Disease Day as a patient and advocate

| Written by Guest Blogger
Fiona Waddell

On February 26-27, 2016, Hudson Freeze, Ph.D., director of SBP's Human Genetics Program, will lead the 7th annual Rare Disease Day Symposium at SBP. With the theme of human glycosylation disorders, the event will unite researchers, clinicians, patients and advocates to find better diagnostics, treatments and maybe even cures for people like Fiona Waddell, a CDG patient. 

In honor of this occasion, Fiona has contributed her story of what it’s like to live with a rare disease, and how she benefited from experts that worked together to diagnose and treat a disease that you probably haven’t heard of, but that she lives with every day.

For you, Rare Disease Day 2016 may be a day that you are introduced to a disease that you have never heard of. For me, Rare Disease Day is more than a day—it’s a life. A rather complicated one, but with a good outcome.

When I was eighteen months old the doctors discovered that I had liver fibrosis. I was sick every few weeks, usually with diarrhea, fever and frequent periods of vomiting. Sometimes it was more severe and I spent a couple of times in the ICU with sepsis. I've also had a couple of incidents of esophageal bleeding and quite often inflammation of my intestines.

I normally went to the bathroom up to fifteen times a day. I had very little energy, a swollen abdomen due to enlarged organs and because of gas in my intestines from protein loss. The protein loss was something the doctors never understood, because it didn't fit a diagnosis.

The reason for these problems became clear when I was fifteen years old. I was in the hospital for more than a year, due to unexplained severe abdominal pain. During that period I was diagnosed with a CDG, many parts of my body. Although most of the unexplained problems from the past were now explainable, there was still a lot the doctors didn't understand.

We gathered as much information as possible and I went to a hospital in the Netherlands where they have a center with specialists on CDG. My father fortunately came into contact with Dr. Hudson Freeze, an authority on CDGs, via a CDG online group.

Dr. Freeze worked closely with my doctors and family to ultimately propose a liver transplant hoping to normalize my metabolism. Although the transplant was experimental—nobody with this disorder had ever had a liver transplant—it worked! My CDG blood test results are now negative. My team of metabolic specialists, including Dr. Eva Morava from the University Hospital Gasthuisberg in Leuven, Belgium, and Tulane University in New Orleans and Dr. Mirian Janssen from the University Hospital St. Radboud in Nijmegen, the Netherlands, then fought to convince the transplant center that this intervention was appropriate for my condition. I'm also indebted to the transplant team at the University Hospital in Groningen, the Netherlands.

I've had a lot of complications after the transplant, but I'm doing great now. I'm working as a journalist and write for a Dutch newspaper. I’m also using my journalistic skills to create greater worldwide awareness around rare metabolic disorders such as CDG. I write for a Dutch foundation for people with metabolic disorders and I'm the Dutch coordinator of Rare Commons, an international research project focused on the biomedical study of rare diseases. I'm really enjoying everything I can now do.

The Rare Disease Day Symposium is free to attend but requires registration

For more on diagnosis of rare diseases, see this article in the Washington Post, including quotes from Freeze.

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