We talk to Dr Kalina Plutowska-Hoffmann, paediatrician and neonatologist at the Upper Silesian Children's Health Centre, about what life with phenylketonuria means, especially for parents of young children, their nutrition and the many limitations of the disease.
Doctor, how does life change for a family with a young child who is given a diagnosis - phenylketonuria?
Kalina Plutowska-Hoffmann: I can safely say that the life of such a family will be turned on its head. The news that a child is suspected of having an inborn error of metabolism disease, namely phenylketonuria, is extremely traumatic for the parents. In our country, screening tests are taken in every newborn baby between 48 and 72 hours of life. This usually takes place at the time of discharge home. The parents are overjoyed because the pregnancy and the difficult and stressful moment of delivery have passed. They see that their baby is healthy, beautiful and has received 10 points on the Apgar scale. A few days later, they receive a phone call informing them that the result of the screening test, which seemed just a formality, is abnormal and that their child is ill. This is extremely difficult information, the parents reach out to internet resources - they always do - they come across a lot of information about the disease even before the era of screening and proper treatment. This is not good information. Phenylketonuria is a devastating disease if left untreated or diagnosed late, it leads to severe, irreversible disability. So that first moment when parents find out about the disease, the need to return to hospital and seek the first information on their own is devastating. All my patients, all the mums, recall that moment as one of the most traumatic of their lives.
The biggest challenge for children with phenylketonuria is the nutrition of such a child. How does feeding a child with phenylketonuria differ from feeding a healthy infant?
Yes. The scope of the parents' responsibilities, the organisation, the logistics involved in such feeding is incomparable to that of feeding a healthy child, because there is no way to act here without a plan. A patient with phenylketonuria has to pay very close attention to every single thing they eat. This is a norm-protein diet. The child must receive an adequate amount of protein in order to develop. This protein is necessary for the formation of new cells, for the child to grow and develop, but unfortunately with a restriction of the very amino acid phenylalanine. And protein is practically in every food we eat. We don't usually realise this, because we only associate it with meat, fish and eggs, but in fact there are very large amounts in bread, carbohydrate products, pasta and rice. These patients really have to plan their diet extremely strictly. This is not a natural diet, it is a vegan diet and mainly based on special phenylalanine-free preparations, available from pharmacies, which provide safe protein. It is, unfortunately, taste-wise and organoleptically not as good as what we usually eat.
That is, a very important part of the nutrition of children with phenylketonuria is the use of foodstuffs for special nutritional use.
Yes.
Say, what role do these special foods play in a child's diet, and can parents even opt out of giving them?
This is the absolute basis of the diet. Without phenylalanine preparations it is not possible to treat patients. There is currently no treatment for phenylketonuria in Poland or worldwide. We do not have a causal treatment. It is a symptomatic treatment. However, it is a miracle treatment. Thanks to the fact that we have a quick diagnosis thanks to screening tests, we can immediately implement a low-phenylalanine diet. We completely avoid symptoms of damage, impairment or developmental disorders in the young patient. Therefore, a diet for such a child based on special foodstuffs is absolutely essential. Without it, treatment is inconceivable. The diet in this disease is the medicine.
Are breaks in the use of these preparations acceptable?
Absolutely not. This is the worst thing that can happen.
What developmental sequelae can occur in children with phenylketonuria who do not receive these foods? Can we treat them? Because complications certainly arise.
Fortunately, nowadays, in our country, with the current development of screening and specialised care in centres treating children with this inborn error of metabolism, we do not have patients who develop full-blown disease. Unless there is significant neglect. In general, the picture of the disease as we knew it in the past with severe intellectual and motor impairment, without contact or the ability to communicate by speech, is a historical picture. We can see it today, for example, in care homes where there are patients who were born before the screening era. Children who are born now are fortunate that such symptoms should not occur in them.
On the other hand, of course, any attempt to stop treatment, especially for the youngest children up to the age of three, leads to changes in the central nervous system, because phenylalanine is a toxin to the brain. And an increase in phenylalanine levels every time leaves irreversible changes. If it's a short-lived increase, at a time when the child, for example, is ill, vomits, can't take his formula then there are usually no serious consequences. But if the interruption lasts a few weeks, a few months or longer then these changes are irreversible and we are not able to cure them. Even if we then return to a very restrictive diet.
Can you imagine a situation where it would be necessary to suddenly change the use of a preparation or swap these preparations. For example, loss of reimbursement. Can foodstuffs be substituted, on the same basis as the original medicine with a generic?
No, these are completely different preparations. They differ in their protein content, in their calorie content. And in this case, the right amount of calories that we provide to the child is as important as the protein, because patients are growing all the time. If they don't get the right amount of calories, they will be hungry and want to eat things that are not allowed for them. So in their case, this formula meets their basic needs. Every preparation is a little different. We are happy to have some choice of reimbursable preparations because every patient is different. There is a huge spectrum of symptoms in this disease. Every patient has a different phenylalanine tolerance, a different protein requirement, a different calorie requirement. And the more preparations we have available, the more chance we have of getting the perfect match for the patient.
Not to mention how important it is that the products taste good. As I said, they are not as good as natural foods, but because our patients eat them from the beginning of life, they usually accept the taste. We can't change it from one day to the next because the child won't accept such a sudden change in taste. It is such a huge difference for a toddler, similar to the introduction of solid foods at five and six months. After all, the baby doesn't switch from milk to soups, dinners and desserts overnight. Always start with a spoon. We do the same if we want to change formula. The baby has to be prepared for this, it usually takes many days and is not always successful. Because the patient also has the right to choose his preferred taste, the things he likes. Some like sweet flavours more, others prefer dry flavours. It is difficult to explain to a young child that they have run out of a preparation they like.
Why was the introduction of PKU GEL to our market such a breakthrough in the treatment of young children?
We have been waiting a very long time for this preparation in Poland. I myself remember how, at conferences or meetings of specialists dealing with the nutrition of patients with phenylketonuria, we discussed this topic. We are very pleased that it is finally here. Patients have been waiting for it. After all, they are aware of what access to treatment looks like in other countries. And this preparation differs from others in that it is a condensed preparation. In a very small volume, we have a high content of the protein needed for the development of small and young patients and, I emphasise, a protein without phenylanaline, i.e. very safe. And what is more, we have an innovative form of this preparation. All other registered preparations on our market for this age group are liquid preparations. Patients say they are milks. So these children drink their milks. However, in order to fit a high protein content into a liquid, a large volume is necessary. If there is a problem with intake when, for example, a child refuses to drink, is an eater, when they are ill or even just have a runny nose, this condensed form is ideal.
The second advantage of this formula is that it is in the form of a gel, the kind of mush that can be given with a spoon and there is very little of it. This is important when the child has no appetite, because it provides a supply of protein. It is especially important when the child has a fever and should get more protein than usual. Then we are able to give him a couple of teaspoons. On the other hand, there is no need to dream that the baby will drink his usual several hundred millilitres of liquid.
Another important thing is that children in their fifth or sixth month should be taught to eat solid foods. Not only drinking liquids, but also eating solids. For a six month old healthy baby we include vegetables, fruit, porridge served with a spoon and he gradually goes from drinking milk to eating with a spoon and then eating with a fork and knife and eating like an adult. On the other hand, unfortunately, it happens extremely often that patients with phenylketonuria who are attached to their liquid formula go to kindergarten, to school and still the liquid consistency is the basis of their diet. And we see a seven-year-old who still walks around with a bottle, with a non-cap cup, and drinks his formula from that. In this way we are doing a disservice to the child, disrupting their natural development, setting them apart from their peers. Therefore, introducing in this window, which is quite short, the infant's openness to new tastes and textures of food is extremely important. This is, in fact, the only formula on the market that can be given to an infant in this form as early as six months of age.
You have spoken of the indisputable advantages of preparation. From the perspective of a doctor who treats children on a daily basis in his clinical practice, the constant availability of such food is probably particularly important. Probably everything depends on administrative decisions. Which recommendations of the Polish administrative bodies are particularly important to you in order to be able to carry out treatment as effectively as possible.
As far as reimbursement is concerned, this is a sine qua non. Patients will not buy a phenylalanine-free preparation without reimbursement. Its prices are prohibitive. These are innovative products that are difficult to produce. It is also a food for a small group of patients. Consequently, people who are recommended to use a particular product without reimbursement are unlikely to use it because it will be beyond their financial means. So here, without state support for reimbursement of preparations that form the basis of treatment for children with phenylketonuria, we are unable to adequately help them and ensure continuity and appropriate standards of this treatment.
That is, we can say that without reimbursement, parents of children with phenylketonuria will not be able to benefit from food therapy. Let us remember that this is a therapy by which these very negative consequences can be avoided. I understand that the lack of reimbursement simply prevents the use of this therapy.
Yes, this is not a situation we sometimes encounter in other diseases, where patients do collections for treatment. They take advantage of them and have a chance to recover. In our situation, these children do not have a chance of recovery. As I mentioned, we treat effectively, but only symptomatically. According to current recommendations, the diet must last a lifetime. There is no way, according to current knowledge, to cure phenylketonuria. So the preparation is something that stays with the patient forever. Therefore, if we want the patient to be treated properly, to be a healthy, productive member of society, to work, to be intellectually able to cope with ordinary, normal life, then we have to provide them with these preparations. Because otherwise we will have patients who will require constant and continuous care.
Doctor, thank you very much for all this information and for the interview.
Source: medexpress.co.uk