When Andulka Gipshmanova (4) from Huchel-u-Semil was born, she looked like a perfectly healthy child. It wasn’t until she was two years old that her parents discovered that she was suffering from a very rare disease, which she was the only one in the Czech Republic. There is no cure and the prognosis is very uncertain.
Happiness after childbirth did not last long, after a few days, mother An Gipshmanova noticed that something was wrong. The daughter was constantly crying, did not want to eat at all and was very restless.
“I can’t count how many times we’ve been to a therapist and for checkups. At that time, I could see the unpleasant looks of the health workers, which indicated to me that I was a hysterical mother. But my child really had a reason to cry, only later did we find out that he was experiencing severe pain that accompanies the disease. An recalls difficult moments after returning from the hospital.
Bodies tense up
The newborn was observed by doctors in several hospitals in Prague. The days spent in specialized wards prevailed over those when the family was together at home. It was still not clear what was bothering Andulka. And only two years later, and after the third genetic test, doctors confirmed a serious disease – infantile systemic hyalinosis syndrome, which causes a gradual deposition of collagen in all tissues except the brain.
The disease affects the digestive system, joints, bones, muscles, heart, kidneys, lungs. “Organs stop working, they freeze. The disease makes it impossible to move, affects speech, fine motor skills and causes severe chronic pain.” mom describes for Blesk.cz.
20 patients worldwide
“Our doctors have never encountered this disease before, Andulka was the first and remains the only child here. This is a rare disease, there are only twenty cases in the world.” An approaches the diagnosis. After this discovery, the girl searched the Internet for more accessible information, but all professiol texts were in English. Unfortutely, which was confirmed, there is still no cure for her daughter’s illness.
The parrot does not have a digestive system, so it is constantly connected to parenteral intravenous nutrition and must have a special “backpack” with a liter and a half of liquid on hand. He gets it straight into a vein with a catheter. Parents can only turn it off for four hours a day, even with the help of a nurse who visits the Gipshmans regularly. They are not allowed to eat or drink anything else, which is very difficult for everyone.
He watches other kids
And not only this. “The parrot knows everything and wants to live his childhood like other children. They see how children run, how they swing, they see how we eat. And she can’t do any of that. We’re trying to pamper her somehow, but it’s hard.” the mother confesses, adding that her daughter also knows that people point fingers at her because of her appearance.
As already mentioned, there is no cure for Andulci disease. “The prognosis is poor, but I am in contact with the mothers of the world and I know that these children are dying before the age of two. However, this disease can manifest itself in different ways for everyone, it also affects other organs. Aninka was already four years old, and she felt well. I think it’s also because of the special nutrition he has.” mom believes.
Caring for a little girl requires not only physical and mental, but also fincial and material costs. “Her disease is so rare that it does not fit into any tables,” also described the pitfalls of a mother who reports on life with a serious illness in a blog on a social network.
With the assistance of the Accompaniment Center
When Andulka was about one and a half years old, she was hospitalized for six weeks at the Central University Hospital in Prague. So the family first met with the employees of the Escort Center.
“They helped us in an incredibly human way. I remember the moment when we were packed and my husband followed us 120 km. But according to the results of the tests, it turned out that Aninka still cannot return home and needs a blood transfusion. At that moment, Mrs. Janichka Grachova from the Escort Center arranged so that my father could spend the night with us there and not return home unnecessarily.” added An Gipshmanova. The help was not the only one, they then regularly met with the Escort Center, thanks to which, for example, they receive monthly support from the Good Angel Foundation.