2019 marks the 85th anniversary of the landmark discovery of PKU by Dr. Asbjørn Følling. The discovery of PKU was a fundamentally important step forward for the fields of biochemistry, genetics, metabolism, and medicine. It led to subsequent work that has saved the lives of thousands of children born with this rare disease.I met Kaisa Haugen in Norway during a planning trip for my trek across Norway. She shared this essay with me, and I wanted to share it with you.
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My name is Kaisa Haugen and I live approximately a 2-hour drive from Følling, a tiny place in northern Trøndelag. To most people this is an insignificant place in a small rural area in a small Scandinavian country. But to me and to many other people with PKU (or “Følling’s disease” as it is sometimes called in Norway) this is a very important place. This is where the doctor who gave us a chance at life came from, a man whose discovery would have a nearly incomprehensible effect on the lives of PKU patients and their families. This place is the hometown of Dr. Asbjørn Følling.
My own relationship to having PKU and following treatment can probably most easily be described as “complicated”, as is true for many patients. For a long time, I was reluctant to explain what would have happened to me if I had not been on diet my entire life.
Every time I get the famous question, “well what would happen if you didn’t stay on diet?” or “what would happen if you weren’t screened?” I have to take a deep breath, collect my thoughts before stating that “I would be permanently physically and mentally disabled.” Although this is now my standard response and has been for the last few years, for a long time I was not always this candid.
If pushed, I could tell someone that I would never be able to speak or function and would probably be sent to an institution because I wouldn’t be able to care for myself.
For a period of time when I was not in as good a place in terms of my relationship to my diagnosis and treatment as I am now, I would rather say that I would have died as a newborn than explain the ways in which something as simple as protein could damage my body and mind.
Even now, I try to spare people the more specific details, like the fact that my hair would lose pigment, my body would give off a musty odor, or that I would have seizures, tremors, eczema, and severe cognitive disability. The list goes on. I would tell myself that it was because I couldn’t stand the look of concern and sympathy when I explained it, and while that is definitely a factor, the truth is that it’s not something I like to think about. Even writing this now is uncomfortable because I don’t want anyone to picture me like that, I don’t want them to associate me or any other patient with that image it forms in their minds, and if I’m being completely honest, I don’t want to picture myself like that.
I realize for some people this may be a difficult essay to read (it certainly wasn’t easy for me to write), whether you are a patient yourself, or you love someone who has PKU. But let it serve as a reminder that the advancement of PKU research is vital.
Today I am 19 years old, I graduated high school, and I am a full- time student at the Norwegian Institute of Science and Technology. In my free time, I am on the board of the Norwegian PKU Association and the advisory board for the Norwegian Center for Rare Diagnoses. All of this is only possible because of the discovery that Dr. Følling made and the medical advancements that have been made since.
We owe our entire lives to Dr. Følling and his discovery of PKU, the implementation of newborn screening, to professor Horst Bickel who came up with the dietary treatment, and to Sheila Jones, the 17-month-old already brain-damaged child who he tested it on. We are also extremely grateful for all of the trailblazing medical professionals who have been finding new ways to improve our treatment ever since, and who will someday hopefully find a cure.