A rare disease will not deprive her of dreams. She became an astronomer, plans to become a mother

Phenylketonuria is a rare metabolic disease that, if left untreated in early childhood, threatens the normal development of children. However, if the parents take care of a properly balanced diet of the toddler, there is nothing to stop it, which is clearly demonstrated by the case of Joanna Więckowska. We spoke to the 29-year-old astronomer on World Phenylketonuria Day.

1. Joanna Więckowska in an interview with Medonet talked about her personal experiences with phenylketonuria from her early youth to now, when she plans to become a mother
2. Already at the beginning of school, she met with misunderstanding on the part of her peers, but thanks to the support of her parents and interest in the world and science, she discovered a passion for astronomy, which resulted in taking up studies and work
3. In an interview with Medonet, the astronomer emphasized the importance of a proper approach to phenylketonuria in a child, which translates not only into his health, but also in developing good habits for years.
4. You can find more such stories on the TvoiLokony home page

Phenylketonuria – what is this disease?

Phenylketonuria, or PKU, is an inherited metabolic disease. In Poland, one in seven to eight thousand newborns are born with this disease, which means that each year about 50 children with PKU come to our country. Phenylketonuria is caused by the lack or significantly reduced activity of phenylalanine hydroxylase, an enzyme found in the liver. This enzyme allows the body to metabolize phenylalanine, which is an amino acid that is a component of protein.

Excess phenylalanine is toxic to the development and function of the brain. Untreated phenylketonuria can manifest itself in intellectual disability, epilepsy, mental disorders and physical disability, therefore its early diagnosis and implementation of an appropriate therapeutic diet play a key role. In Poland, for several decades, screening for PKU is carried out on the third or fourth day after the birth of a child, by performing the so-called a dry blood drop test, which allows you to detect the disease before its symptoms appear. The test consists in collecting a few drops of blood, which are then applied to a special diagnostic paper, which is dried and labeled. Then the material is sent to the laboratory, where it is tested for metabolites of given diseases.

Phenylketonuria does not stop you from making your ambitious dreams come true

The only effective treatment for phenylketonuria is to eat a low-phenylalanine diet. Its essence is to limit the supply of phenylalanine, which is abundant in, among others, meat, fish, dairy and legumes. In order to motivate people with PKU to follow the diet and to promote knowledge about the disease and how to deal with it on a daily basis, the PKU Connect platform and the #Fenymenalni campaign, one of the faces of which is Joanna Więckowska, was created.

In an interview with Medonet, the 29-year-old astronomer told about her personal experiences with PKU from the early years of her youth until now, when she and her fiancé are planning to enlarge the family.

How did your parents find out about the phenylketonuria you have?

After the baby is born, the baby’s heel is blooded and screened for screening. All newborns are tested in this direction and nowadays it is impossible to miss something. My parents have been following my diet from an early age, from birth.

A strict diet is certainly a challenge for both children and parents. How did your family handle it?

It is a diet and a bit of a lifestyle, which is difficult for children and parents, because they have to enter the right mode and cannot afford to feed their child. My mother admitted that at the beginning it was hard for her, because like my parents, together with my dad they wanted to share the halva they ate with me, but they could not do it. Whenever my parents wanted to eat something forbidden for me and my sister (who also suffers from PKU), they … hid with what I found out only years later.

How did you manage to develop a dietary regime?

In my home there were no prohibitions or punishment system, no anger and nervousness showed because of illness or possible deviations from the diet. From an early age, my mother explained to us why we cannot eat certain products and why they are harmful to us – of course, she did it in a way that was accessible to small children. She also did not buy home products that we might be tempted to – either they were absent at all or they were well hidden.

Children like to rebel and experiment, which can be dangerous in the case of PKU. Has it happened in your case?

Yes, the period of rebellion appears in the life of every child. I remember this story – my mother gave me four zlotys and I bought a chocolate in the school shop. But my brother caught me and told my mother about it, so after returning home we had a conversation. My mom reminded me of the rules, told me again why I couldn’t do such things, then counted the values ​​in the diet and it was fine.

When I was a bit older and about 10 years old, I had similar ideas from time to time, but at our house there was a simple rule – my mother preferred to know if we ate something outside the diet and she did not punish us for it, she only talked to us on this topic, addressing the importance of diet in our lives.

We also had a contract – once a year we could choose one high-protein thing that we couldn’t eat, and which we wanted to try. So I eagerly reached for a piece of pork chop during New Year’s Eve, and my sister ate a whole bar of chocolate. Of course, later she lay with a stomach ache, but she was happy. Of course, my mother included everything and nothing bad happened to us later.

Have you ever given up on your diet or included prohibited products?

At one point in my life, I did not follow a diet. It took place in college and was due to the fact that I had an additional illness of Cushing’s disease, which meant that I had to follow an even more restrictive diet related to insulin resistance. I had to exclude a lot of foods from my diet and for two years I was able to eat very little.

It was very hard for me and I think that after all this I just had to react mentally, which made me indulge a little more with food for six months. I functioned asymptomatically for three weeks, lived a normal life, but after three weeks I already noticed the first symptoms of PKU, i.e. irritability and attention problems. It was enough, however, to return to the diet relatively quickly and all symptoms disappeared without any problems.

Now you and your fiancé have made a decision to enlarge your family. Preparation for pregnancy involves a restrictive diet?

Yes, I have calculated that I can eat 350 mg of phenylalanine a day. So I have to recalculate my diet to eat 2 a day. kcal, but at the same time take very little phenylalanine. I base my diet mainly on products such as low-protein flours, pasta, rice and bread. Almost every product can be exchanged, so I swap, and what can’t be changed, I just count. You can learn it, but you have to want it and sit down to it. Of course, you also need financial resources, because food is very expensive for us.

What prices are we talking about?

I pay 300 zlotys for 10 grams of bread, which is a very high price for me. This diet is very demanding. However, it is easier for adults, because if I do not buy something, I will eat “ordinary” food and I will survive somehow, but I am afraid to think about those little children who are just starting to eat like this. They have no choice but to consume only low-protein foods. There are no substitutes here.

Parents of such toddlers spend a lot on baby food, and prices have soared recently. However, there are foundations and a large group of people use them. Foundations help to buy food at a slightly lower price because they collect an order from a large group of interested parties and negotiate the price with the producer.

The years of primary school were difficult for you because of misunderstanding on the part of your peers, which you mentioned in the video material for the #Fenymenalni campaign. However, your parents, curiosity about the world and willingness to learn helped you overcome these difficulties. Where did the interest in astronomy come from?

I was about 11 years old when I became interested in astronomy. I’ve always liked reading books and studying, so when my parents gave me books on astronomy, I started to read them and I was hooked. I absorbed a lot of books, all the amateur knowledge that was available, I absorbed very quickly. I got my first telescope when I was 12 years old and started going with my friend to do some small observations in the yard. In my small town, where I come from, there was no proper interest club at school, so we educated ourselves and helped each other.

Then I entered the math and physics class, and then I was advised that I should continue my education at the polytechnic. I chose the Wrocław University of Science and Technology, where I graduated in biotechnology, I also did astronomy and I became interested in life in the universe from the hybrid. And so I stayed in astronomy and now I popularize astronomy among children and teenagers working for the Cordis Science Center.

What is your passion besides astronomy?

During my studies, I was delegated to Alaska for a conference and represented the university. I spent a time full of adventures and interesting lectures, which I remember very well. Alaska is a beautiful land. Then the disease appeared, but recently I have returned to traveling. With my fiancé, we focus on island tourism and visit places where it is warm, because we like such a climate. We’ve been to Tenerife, Sicily, Sardinia, Cyprus, and this year we’re going to Madeira.

What is your life like now apart from work and travel?

We have now settled in a village where 15 people live and there are five houses on the cross. We live practically in a forest and we are 15 km from civilization, which is a larger, but small town. I found a good metabolic and endocrinology clinic in Szczecin, which I use regularly. I also have two lovely dogs that I love to walk with.

We encourage you to listen to the latest episode of the RESET podcast. This time our guest is Marek Rybiec – businessman, as one of 78 people from all over the world, he completed «4 Deserts» – ultramarathon taking place in extreme places around the world. She talks to Aleksandra Brzozowska about the challenge, mental strength and mindfulness training. Listen!