Who are the Phenymen? 28 June marks World Phenylketonuria Day 2021
#Fenymen are a community formed by people who have phenylketonuria (PKU) and their loved ones. PKU is an inborn defect of metabolism that requires adherence to a strict phenylalanine-deficient diet throughout life. It is a daily challenge, but if followed consistently, it offers a chance for a normal life. On the occasion of World Phenylketonuria Day, celebrated on 28 June, it is worth exploring the world of people who have been brought together by phenylketonuria and, through shared experiences, stick together and support each other in adhering to a specialised diet.
Phenylketonuria (PKU) is an inborn metabolic disease, inherited from both parents, who do not have symptoms of the disease, but are carriers of the altered gene. In Poland, one in seven to eight thousand newborns is born with phenylketonuria. This means that every year there are approximately 50 children with PKU in our country.
- The cause of phenylketonuria is a partial deficit or total lack of activity of the enzyme phenylalanine hydroxylase produced in the liver. This is responsible for the conversion of one amino acid, phenylalanine, to another amino acid, tyrosine. Amino acids are the small 'bricks' that make up all proteins, which are essential for the proper functioning of all living organisms, including humans. As a result of blocked phenylalanine metabolism, excess phenylalanine accumulates in the blood and has a detrimental effect on the body's tissues, particularly the nervous system. The main clinical manifestation of untreated phenylketonuria is progressive intellectual disability, usually of a severe degree. An untreated PKU patient is not independent, does not acquire skills appropriate to a particular stage of development, and often loses skills already acquired. In extreme cases, they do not walk, speak or eat independently. Other neurological symptoms also appear, including epilepsy -. explains Dr Dorota Korycińska-Chaaban from the Metabolic Diseases Outpatient Clinic at the Institute of Mother and Child in Warsaw.
Diet Poor-phenylalnine treatment is the only treatment in Poland
Although there is currently no causal treatment for PKU, there is an effective method of preventing the onset of symptoms of damage to the nervous system - this is a special low-phenylalanine diet, the only treatment available in Poland for phenylketonuria. A prerequisite for success is to start treatment with a phenylalanine-restricted diet before the clinical symptoms of the disease appear. This is possible thanks to the Newborn Screening Programme funded by the Ministry of Health. On the third day of life, blood is drawn from the newborn on a special blotting paper and then sent from the hospital to the Screening Unit. From the dry drop of blood on the blotting paper, tests are performed for a number of inborn defects of metabolism, including phenylketonuria. The finding of an elevated phenylalanine concentration in a child's blood requires further diagnosis in specialised centres. In Warsaw, this is the Department of Inborn Malformations of Metabolism and Paediatrics at the Institute of Mother and Child.
- The diagnosis of phenylketonuria in the first days of life and the implementation of appropriate treatment ensures that patients develop intellectually similar to their healthy peers. Properly and systematically treated PKU patients attend nurseries, kindergartens, graduate from schools, studies, work in selected professions, obtain degrees, start families and give birth to healthy children. High concentrations of phenylalanine have a toxic effect on the brain at any age, and high concentrations of phenylalanine in the blood of a pregnant woman with PKU have a detrimental effect on the developing foetus, causing a syndrome of birth defects called Maternal Phenylketonuria Syndrome. Therefore, treatment with a ubophenylalanine diet is necessary for life. It is very important that every PKU patient, at any age, receives care from the Metabolic Clinic. This is especially true for young children, adolescents and women of childbearing age - the says Dr Dorota Korycinska-Chaaban.
What the diet consists of poor-phenylalanine?
The elimination diet used in the treatment of phenylketonuria is a diet that covers the needs for all macro- and micronutrients, vitamins and energy as in healthy people, but with reduced phenylalanine and increased protein.
High-protein products, which have a high proportion in the diet of healthy people such as meat and meat products, dairy products, fish, eggs, legumes, flour products, nuts, cocoa, chocolate, must be excluded from the diet of PKU patients.
The basic recommendations of a phenylalanine-deficient diet concern the following components: phenylalanine, tyrosine, protein and energy.
- Daily adherence to the diet requires detailed planning of the patient's meals, accurate weighing of each product and calculation of the amount of phenylalanine, protein and calories consumed. The patient may receive a strictly defined amount of phenylalanine with meals, according to their current tolerance. Fortunately, special PKU calculators are available to help with the calculations. Protein, which is necessary for the body to develop adequately, is given to PKU patients in the form of special preparations - mixtures of synthetic amino acids, devoid of phenylalanine, which are equivalent to protein. A wide range of low-protein products is available in an increasing number of regular shops, which makes it much easier to compose an attractive and varied diet - comments Joanna Żółkowska, MD, PhD, a dietician at the Metabolic Diseases Clinic of the Institute of Mother and Child in Warsaw.
I can't eat everything, but I can eat everything.
Information about a child's disease usually causes shock, uncertainty, fear and denial. The fact that there is so little information about rare diseases in the public space can add to the fear. It is therefore important to use different sources of support, such as metabolic counselling centres, family and friends and other patients.
It is this last group and their stories in particular that help people to understand that, with the right diet, illness does not have to be a limitation. The patient, by talking about the experiences of other sufferers, can begin to see the use of a restrictive diet as a means to an end, allowing them to do what gives them real satisfaction. Those around them are a source of support in times of doubt and motivation to enjoy life to the full. Because although everyone is different, together they form the strength of a community!
The diet has taught me responsibility and strength. I think it will be my companion even at the end of the world, but that is not a problem. Thanks to it, I can pursue my passions and not feel that I am sick. The greatest motivation to be consistent in adhering to a low-phenylalanine diet I draw from friends and family. They are the ones who drive me to take action. I am also aware of the problems that can arise if I give up on the diet. That is why I try to share my positive energy and get heavily involved in the #Fenymen community. They are the ones who help us all to feel freedom, despite the dietary restrictions that accompany us every day - says Kaja Rogala, a 19-year-old patient.
#Fenymen
With the aim of supporting people with phenylketonuria on a daily basis, the PKU Connect platform was created more than seven years ago, through which people with PKU can gain knowledge, meal ideas, as well as positive energy and motivation for action. It is not just a virtual space. Patients also meet each other in person at workshops organised by Nutricia Metabolics, a brand within Nutricia Polska. A printed magazine is also published periodically, composed by experts and #Fenymenal patients.
More information can be found at: https://fenymenalni.pkuconnect.pl/
Nutricia Foundation was established in 1996 by Nutricia Polska Sp. z o.o.. Since its inception, the Foundation has been raising awareness about the role of nutrition, initially engaging, among other things, in nutrition education during the first 1,000 days of a child's life. From 2019, the Nutricia Foundation's mission is to educate about the role of nutrition at different stages of a person's life. The Foundation addresses its activities to children and parents, patients and their relatives, representatives of the medical community, public institutions and non-governmental organisations. The Foundation runs nationwide educational programmes such as: "1000 first days for health" or the campaign "Medical nutrition - Your meals in the fight against illness". It also runs a nationwide grant competition, enabling scientists to conduct scientific research in the field of human nutrition.