They were looking forward to their first child, and there were no signs that the long-awaited boy would get sick. However, after six months of Vincent’s life, it became clear that he was one of two people in the Czech Republic who were born with a very rare metabolic disorder. There are only a few hundred people worldwide with this disease, so unfortutely little is known about this disease. But one thing is certain, there is no cure for it yet.
At first everything went as it should. Both the pregncy and the tests were in order. But Vincent really did not want to give birth, due to the fact that he was born, the birth was eventually provoked. “We had a healthy, beautiful baby, and everything seemed flooded with sunlight. The only complication was Vincent’s collarbone, which he broke during childbirth.” remembers his mother An.
He was crying unconscious
However, at about 6 months of age, parents began to notice the first warning signs. Compared to other children of the same age, Vincent did not want to take up hobbies, he did not roll over on his stomach and it was almost impossible to motivate him at all. And that was just the beginning…
“He began to have more frequent emotiol attacks, when he cried so hard that he stopped breathing, choked, turned blue and pale. For us parents, it was a terrible moment, and after another severe attack, when he even lost consciousness for a while, we immediately went to the hospital.” Mom describes.
The hospital began a marathon of all kinds of examitions, especially for delayed motor development. Vincent’s condition did not improve at all. As if his development had stopped at the level of a 3-4 month old baby.A probe was inserted into Vincent’s esophagus, magnetic resonce imaging, blood tests, examition by a neurologist, genetics, and so on. Only a lumbar puncture and subsequent skin biopsy resulted in a shift.
Results after a year of waiting
After a year of waiting, the results of genetics came. Vincent’s metabolic disorder is so rare that the boy is officially the second person in the Czech Republic to be diagnosed. “Knowing this diagnosis was a relief, on the one hand, after so many months, we now know what is happening and why. On the other hand, it destroyed our hopes that our son would soon recover from this and someday live a full life.” explains Mrs An.
She and her husband went through a difficult time when they had to come to terms with the fact that much of what they dreamed about for Vincent as parents would not come true. “We have a disabled son who will never be able to walk or be self-sufficient. Luckily, we weathered it, and the love for our son strengthened our partnership. The husband is the best father that Vincent could dream of. He is always optimistic and fully involved in the care.” mom says.
We hope a cure is found
Thanks to regular physical therapy and neurorehabilitation, the baby is now able to turn on his side and hold his head better. He does not sit, does not walk, and does not hit his mouth with a spoon, he barely holds a toy in his hand. “He is still like a child in terms of motor skills. But socially, he reacts to us and his environment, he clearly understands something and is very hardworking.” describes Mrs. An and adds: “We believe that the development of science will go forward and someday a cure will be found for this diagnosis. Until then, we will do everything in our power to give Vincent the best possible life.”
Good angels help
Of course, the demands of care are reflected on the fincial side of the family. For this reason, the Good Angel Foundation also began to support him. “The monthly dotions we receive from donors, the Good Angels, help us cover the costs of various rehabilitations, exercises and a few hours of babysitting a week when we can get some rest or arrange for the bare necessities,” adds with gratitude to Mrs. An.
For almost 11 years of its activity, the Kind Angel Foundation has supported more than 10,000 families with children in which a parent or child is struggling with a serious illness. If you also want to become a Good Angel, it’s easy. Just register on www.dobryandel.cz, choose any amount of contribution and start paying.