July 27, 2021

Biology Reporter

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About Phenylketonuria at Health Summit 2021 :: MedExpress.pl

About Phenylketonuria at Health Summit 2021 :: MedExpress.pl

Experts argued during a panel discussion on rare diseases at the 2021 Health Summit that a lot has and is happening in the field of rare diseases, but there is still more to be done. Patients with one of several thousand rare diseases are not sure what fate they will paint: the quality of treatment and the quality of life depend on the disease they have, where they live, and even their age.

Experts argued during a panel discussion on rare diseases at the 2021 Health Summit that a lot has and is happening in the field of rare diseases, but there is still more to be done. Patients with one of several thousand rare diseases are not sure what fate they will paint: the quality of treatment and the quality of life depend on the disease they have, where they live, and even their age.

a. Jolanta Sykut-Cegielska, national advisor in pediatric metabolic medicine, spoke about a special group of patients: pregnant women with phenylketonuria. A common problem is that pregnant patients do not take the necessary preparations during pregnancy. The reason is its large size and the constant vomiting associated with pregnancy. As a result, pregnant women with phenylketonuria cannot take the necessary amount of the preparation. The consequences are dire. – Last month, a child was born again with healthy ketoacidosis, with microcephaly and neurological symptoms – said the professor. Sikkot Sigelska. She added that it was very painful because there was a possibility that the baby would be born healthy. – This is 9 months of struggle for a healthy baby – adds the professor. Julanta Wiersba.

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As Ewelina Cordell, mother of Julia who has phenylketonuria, points out, patients are waiting to be reimbursed for new innovative preparations. – Expecting future mothers who plan the offspring of such impulses are especially awaited. These are the people who do not tolerate the currently available preparations. We hope that PKU Sphere, available throughout the EU outside Poland, will also appear in the pharmacy – said E.Kurdel and added that it is the only preparation that has been shown to be effective in research.

Another problem is the availability of food for special medicinal purposes. – It is a matter of safety, for example, when this measure is out of reimbursement, or if its rules have changed significantly. When it is the only safe product that can be used, the patient and his relatives go through hard times. And we, as attending physicians, – explained Professor D. Sykut-Cegielska, stressing that neither parents nor doctors should be put in a position where they have to “organize” a preparation for the patient, without which it cannot function.

Eulina Cordell spoke about the life of a family who had a child with phenylketonuria. It is the parent or guardian who implements all nutritional recommendations that form the core of treatment in this disease. Any inconsistency can quickly affect your child’s nervous system. She stressed that this was a great incentive to comply with the system.

In addition to the diet, a patient with phenylketonuria should take a specialized preparation every day in a strictly defined dose – certainly not lower. “Foods for special medical purposes,” said Prof. Dr. Although Jolanta Wierzba is not a drug, it has the same meaning as a drug. Patients, including children, should take it several times a day after a meal. The problem is the rather large size, which causes some (and not only) children to have significant problems: vomiting and abdominal pain. Also, as Dr. Willow, the size of the preparation and its poorly tolerated taste and smell are problematic, for example in the case of pregnant women. – She confirmed that stopping taking this product immediately affects the patient’s health, and in the case of a pregnant woman, it threatens the life and health of the fetus. – We are fighting for a perfectly healthy man. Untreated phenylketonuria is a very dangerous disease, but at the same time it is the greatest success of metabolic medicine. Properly managed patients can lead a normal life – starting a family and working – the specialist said. Condition: adherence to a strict diet and regular use of the preparation.

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Preparations of the new generation are an opportunity for patients who do not tolerate food that is currently repaid for special medicinal purposes: they have a much smaller volume (a few teaspoons), they are easier to take, easier – in the case of children – “with food. They are better tolerated. However, the It is not only about the patient’s comfort, although healthy people may have such an impression, but literally – about life and death.

Thomas Latos, Chairman of the Parliamentary Committee on Health, emphasized that rare diseases are at the center of attention of the Health Committee, the Ministry of Health and the National Health Fund. – There is a plan for rare diseases that will be implemented – he reminded. In his opinion, announcements about the financing of new treatments look very promising, and the introduction of new technologies in reimbursement or public financing will be easier with increased spending on healthcare, but also with the emergence of a different path offered. by the medical fund. Thomas Latos emphasized that the Health Committee and himself are open to a greater commitment to work for patients with rare diseases, who are counted in the thousands.