Two -year -old Pavlinka suffers from syndrome that cannot be treated.Yet her parents try to be self -sufficient once<

As a result of an incurable disease, Pavlínka decreases in cholesterol levels needed for normal development and toxic substances in the body.Each patient's manifestations are different in the disease.Typical are growth disorders, non -enforcement, congenital defects including specific facial features and organ damage.The cause of the disease cannot be cured, it is only possible to correct its consequences with a special diet and serving synthetic cholesterol.Parents firmly believe that their little Pavlinka is struggling with the milder form of the disease as possible.

At the birth of the desired little girl, Mrs. Paul and her husband Marek enjoyed extremely.Unfortunately, pregnancy has been risky since the beginning.”The first screening came out positive, pointing to an increased risk of genetic defects.Therefore, I did not hesitate to submit to all possible other tests, consumption and examination to make sure it is small healthy.All the results were fine, ”recalls Mom, Mrs. Pavla adds:” I remember saying - so most of all that she has no syndrome.At that time I had no idea what I was talking about.”

That something was wrong was found by parents right after giving birth when doctors Pavlínek immediately placed in the ICU department.“After two weeks in the ICU they told us the diagnosis of Smith-Semli-Etzz syndrome. Byl to šok a trvalo mi, než jsem si pravdu vůbec připustila,” vypráví dál paní Pavla.

Today, small Pavlines are two years old and parents regularly commute to rehabilitation and visit a lot of specialized doctors.Especially because of their efforts to make small progress.“Pavlínka is currently at the level of an annual child.Climbs four, walks around furniture. V jídle je hodně vybíravá, nechce zatím jíst kousky, takže všechno mixujeme, ale pořád lepší, než aby měla nějakou sondu,” popisuje maminka aktuální starosti s tím, že se ale také snaží užívat každé malé radosti.“Pavlinka loves bathing and she also likes to show off when she has an audience. Ráda ukazuje, co všechno umí, jak je veliká a jak dělají různá zvířátka,” dodává paní Pavla s úsměvem.

Every serious illness affects the whole family not only mentally but also financially.Her parents felt it because of Pavlínka's disease.Mr. Marek works as a locksmith and ensures the family's financial needs mainly on him.At the beginning of this year, the good angels began to help them through the Good Angel Foundation.

“We are grateful for good angels for their contributions.They help us to provide the necessary rehabilitation aids, aids for motor development, we also buy special nutrition and other necessary things for them.They also help us pay for the doctors, because it is the crown to the crown and one at the end of the month is not enough to wonder how much it cost.So we thank you very much for everything!We believe that when we use all possible resources and possibilities, Pavlinka can work once and separately. Jen to bude delší cesta, než jsme doufali,” říkají její rodiče.