This post is also available in Dutch.
As a scientist, I am aware that the type of research I do is often far removed from everyday reality. This is not a bad thing because not all research needs to be directly relevant to society. Nevertheless, this issue is something I am sometimes extra aware of. Especially because, to a certain extent, science has saved my brain. Because I have PKU.
I have PKU
PKU (stands for phenylketonuria) is an inherited metabolic disease in which the body cannot properly break down a specific amino acid (phenylalanine, a building block of protein). The result is a surplus of phenylalanine in the blood, which can seriously affect the brain through the blood-brain barrier and severely hamper child development. This is not very noticeable in the short term, but if PKU is not treated, it can lead to spasticity, epilepsy, and even mental retardation after a number of years.
Fortunately, PKU is relatively simple to treat
As soon as a heel prick reveals PKU in a newborn child, a low-protein diet (read: a few grams per day) is sufficient to limit the accumulation of phenylalanine and to protect the brain. In practice, this means that the child should not eat dairy products, meat, fish, nuts, protein-rich meat substitutes, etc. This was also the case for me and my brother. When I started working at McDonald’s at 17, I had never eaten meat, let alone a hamburger!
PKU children often lag behind cognitively
Although PKU children on a diet can grow up healthy, the diet is not a miracle cure. It appears that PKU children on average lag behind in (social) cognitive functioning compared to their siblings without PKU. This may be because, even with a low-protein diet, the phenylalanine values in their blood are often still higher than in non-PKU children.
The consequences of these increased levels are a decrease in important neurotransmitters and a disruption in the production of myelin, a substance that is of key importance for good communication between brain cells. Common symptoms are hyperactivity, attention problems, and mood swings. In addition, PKU patients on average score worse on so-called ‘executive’ functions such as memory, planning, and inhibition (e.g., suppressing impulses).
But it is not bad to have PKU
While writing this blog, I realise that this all sounds quite intense, and I can imagine that parents can be quite shocked when they first hear that their child has PKU. However, it is absolutely not my intention to give the impression that it is bad to have PKU. Of course, as a child it is sometimes difficult that you cannot always eat the same as your peers, and I think it can also be very complicated for parents.
At the same time, when I look back at the role PKU has played in my life, I find that it has also given me an enormous amount of appreciation. Appreciation for PKU patients, parents, and yes, also for food. About 10 years ago a medicine appeared on the market that meant that, all of a sudden, I could practically stop following any kind of diet (!) and that I was allowed to eat things that had been ‘forbidden fruits’ for 18 years. So now, on the surface, I am almost indistinguishable from a non-PKU person. Isn’t that bizarre!
I owe my brain to science
So now I realise that I owe my brain – and indeed the rest of my life – to science. Without science, there would be no heel prick, no diet or medication, and thus a very different life for me and my fellow PKU patients. This makes me all the more grateful that I can now be a scientist myself. So although I am now almost indistinguishable from non-PKU people, my PKU will always be there and it will always connect me to science. Because without science, I would not be here now in the way I am.