– We can only love and nurture him. Because there is no cure for this disease – says Agnieszka Słuszczak, Frank’s mother. Her son is one year and seven months old and is the only De Barsy band in Poland. This disease occurs once in a million births, even less often. For half a century, only a few dozen cases have been described in the medical literature. As many as two happened in the Słuszczak family.
They had two sons (9 and 15 today) when they decided to have a third child. – The pregnancy was normal, there was no reason to worry, nothing disturbing was shown by the prenatal tests. We only knew that the baby would be born smaller. It was only in the delivery room that I heard that “there is a problem with him” – recalls Agnieszka.
Death of a child
It was 2010, on November 24, Antoni, Frank’s older brother, was born. He was indeed born much smaller than any other child. He was not gaining weight, had flaccid skin, hearing loss, eye problems, and was vomiting. But it was not known what was wrong with him. The parents were looking for the cause, the family doctor sent him to the hospital. The boy spent almost the entire first year of his life there, and finally he was taken care of by a home hospice. He died in September 2013 at the age of less than 3.
Agnieszka Słuszczak: – We did not know what Antoni was ill with and after his death we decided to have another child. The diagnosis was that it is a genetic mutation, but one that is not inherited. Our two sons are healthy, we were convinced that Antoni’s disease was a coincidence, which was confirmed by the doctors. But when, at 32 weeks of pregnancy, it turned out that the baby was not growing, I knew, I felt that it would not be well. Franek was born like Antoni.
The parents began to look for the reason, because this time it could not be a coincidence.
Thanks to the determination, the geneticist Dr. Robert Śmigiel and the previously unavailable NGS study (next-generation DNA sequencing) at the Medical University of Warsaw, with Professor Rafał Płoski, managed to determine the cause of the problems. It turned out that Franek suffers from De Barsa syndrome – a very rare disease from the group of premature aging syndromes.
DNA research
– Our son is the first diagnosed case in Poland – says Sławomir Słuszczak, the boy’s father. – The genetic material of the deceased son has been preserved at the Institute of Mother and Child in Warsaw. Repeating DNA tests showed that he had the same.
Franek, like his deceased brother, has epilepsy, spasticity and cataracts. He doesn’t hear, sit, play, or gaze, he’s suffering from monstrous reflux and constantly vomits. He cannot be alone for even a moment. – I don’t work, you can’t work with Frank, you have to keep an eye on him. We are at the crib day and night, we change with my husband – says the boy’s mother.
Sławomir Słuszczak: – We do not have such situations that I go out with my wife somewhere. If we go together, we take Frank and we pack all the equipment into the cart. It’s really hard. Sometimes I don’t know my name. Of course, there are better days and worse. If there are better ones, you can get enough sleep, on the worse ones you stay all night at the bed.
There were only two weeks in the boy’s life during which he did not vomit. In the remaining cases, he paid even a dozen or so times a day. He has seizures of epilepsy just as often.
Due to his serious underweight, Franek is fed with a tube inserted directly into the stomach. Food is given for 20 hours a day. Sometimes the tube falls out. – You have to replace it within an hour, because the stomach quickly becomes overgrown – the boy’s father explains. – I already learned it. I had to. We always carry a spare catheter and anesthetic.
Hospice care
When Franek was born and it turned out that he was also sick, his parents decided not to fund him what Antek had experienced.
– Moving from ward to ward, constantly stabbing needles, testing many times a day. Now we know that such situations can be avoided – they say. Today, Franek is under the care of specialists from the Hospice for Children of Lower Silesia. – We spent months with Antoni in hospitals. We came to the hospice, to be honest, when we couldn’t cope anymore. After that month spent in the hospital, Franek was discharged and transferred directly to the care of a home hospice for children. He does not visit hospitals, unless for scheduled procedures – cataract surgery or hernia surgery, which he had to undergo.
– We had no experience with Antek. We were under the delusion that someone would help him. We didn’t know what disease we were dealing with, how it could turn out. We live differently with Frank. We’re home, all of us together. Older boys hate the fact that one parent is constantly in the hospital, the other one commutes to him, and the family is broken – says the boy’s dad.
A physiotherapist visits Frank three times a week, a nurse visits him twice a week, and a doctor visits him at least twice a month. – They provide us with hygienic materials, catheters, filters. I no longer run around medical stores and look for these things. It is much easier – the boy’s mother assures.
Agnieszka Słuszczak: – Of course, our older sons are losing due to Frank’s illness. Because we cannot devote as much time to them as we would like. We can’t say: it’s Saturday, let’s go somewhere together. But they are extremely mature. Experiences change people, and so do children.
There is no cure
On the last Christmas Eve, the family had already said goodbye to Frank. Infection, pulmonary edema, it looked like it was over. – The situation was overwhelming for everyone, luckily Franek showed that he had strength and got out of it. Then my second son, Wiktor, said: “If something happened to Frania on this Christmas Eve, all Christmas would be sad”. Sometimes I think that a nine-year-old child should not have such thoughts – says mom. – Wiktor is aware that anything can happen. She remembers what it was with Antoni. In the evening it was in good condition, we went to bed, it suddenly worsened at 2 am, and in the morning the son was already dead. It was only four hours. I think there is a fear in boys that Franek may leave suddenly, unexpectedly. They know the disease is incurable.
There is no cure for De Barsa syndrome, the sick can only be looked after. – We provide supplements, amino acids that are lacking. The son is constantly rehabilitated so that he does not have contractures, that he can breathe better, maybe he should sit down, because we do not really know what the course of this disease can be – says the boy’s mother. – And we hope there will be a breakthrough. It’s not easy to watch a child suffer – adds Dad.
Agnieszka Słuszczak: – If someone told me that there is a medicine somewhere, some magic herb that would help, I would get it, at the end of the world I would go barefoot, even on my knees. But for now, everyone tells me it doesn’t. And you have to accept it.
Fania’s parents run a blog where they describe the days spent with their son (www.franio.sluszczak.pl). A fight for what you can fight for – not for health, but for a better quality of life for Frank. Rehabilitation helps him a lot, after the treatments he relaxes and sleeps longer. Unfortunately, these treatments are not reimbursed. The boy can be helped by paying money to the Hospice for Children of Lower Silesia: 64 2030 0045 1110 0000 0417 6840 (with a note for Frank Słuszczak).
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