• 15/11/2022
• By wizewebsite
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The story of Pavlínka (2): She suffers from an incurable syndrome!<

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Ms. Pavla and her husband Marek were extremely looking forward to the birth of their long-awaited baby girl. Unfortunately, the pregnancy was risky from the start. "The first screening was positive and indicated an increased risk of a genetic defect. That's why I didn't hesitate to submit to all possible further tests, samples and examinations," recalls Mrs. Pavla. But she showed that everything was fine. "I remember saying: the main thing is that he doesn't have any syndrome. I had no idea what was waiting for us.'

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After giving birth in the ICU

Immediately but after the birth, the parents suspected that something was wrong. The doctors immediately transferred the newborn to the intensive care unit. "After two weeks, they told us the diagnosis, which was Smith-Lemli-Opitz syndrome. It was a shock and after finding out what the disease entails, it took me a while to admit the truth," continues the mother, who had to learn what they have to do with.

Smith-Lemli-Opitz syndrome is an inherited genetic disorder caused by a mutation in one of the genes responsible for cholesterol metabolism. As a result, there is a decrease in the level of cholesterol, which is needed for the normal growth and development of the child, and the accumulation of toxic substances in the body. Cholesterol also plays an important role in the production of hormones and digestive acids.

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The cause cannot be treated

Although the disease manifests itself slightly differently in each patient, the common features are growth and development disorders, birth defects including specific facial features and organ damage. The cause of the genetic disorder cannot be cured, but its consequences can be corrected with a special diet and administration of synthetic cholesterol. The parents therefore firmly believe that their Pavlínka is dealing with the mildest possible form of the disease. With good nutrition and medical care, many people with SLO syndrome can live a normal life expectancy. However, mental disabilities often prevent them from living independently with the help of others.

Rehabilitation helps

Pavlínce is two years old today and her parents regularly take her to rehabilitation and visit various specialists. Thanks to them, he makes small progress. "Pavlínka is currently at the level of a one-year-old child. He crawls on all fours, walks around furniture. She is very picky about food, she doesn't want to eat pieces yet, so we mix everything, but it's still better than having a feeding tube," the mother describes her current worries. Pavlínka makes her parents happy with little things. “She loves bathing and also likes to show off when she has an audience. She likes to show what she can do - how big she is and how different animals do," adds Ms. Pavla with a smile.

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Money is needed

Every serious illness affects the whole family not only psychologically, but also financially. Of course, Pavlínka's parents also know about this, especially Mr. Marek, who works as a locksmith and provides for the family. Fortunately, at the beginning of the year, the Good Angel Foundation also started helping, for whose contributions the parents are extremely grateful.

"They help us secure the necessary rehabilitation aids and motor development aids for Pavlínka. With the donated money, we also buy special nutrition and other necessary things. They also help us pay for trips to the doctor, because it's a crown for a crown, and at the end of the month you can't stop wondering how much everything cost," says Mrs. Pavla. He believes that if the family uses all means and possibilities, Pavlínka will one day be able to function independently. It's just going to be a longer journey than they hoped.

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