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Metabolic disease
“In those months we noticed that his motor development was stagnating,” says Sanne. “I started to worry a bit, I was ready for the results of what was wrong with him.”
“But when we received the results on January 2, everything came to a standstill. The pediatrician called and said, “It’s not good. You both carry the gene that causes the metabolic disease metachromatic leukodystrophy. He’s not going to get old.’”
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Death sentence
Jelte’s father picks him up from the shelter that day. “He was exactly the same as when we brought him in, but everything had changed in the meantime. We received his death sentence that day, while we saw a child who was relatively healthy. He chattered a lot, just couldn’t walk. He didn’t feel sick either. When he saw that I was crying, he said, ‘Mama don’t cry’.”
More tests will follow, all to confirm that he has the metabolic disease and to see how far along he is. There may even be a treatment option, such as gene therapy or a stem cell transplant.
But the studies show that the disease is too advanced and is already in his entire nervous system. “His legs and arms were already affected. Therefore, he will never be able to walk. The doctor said, “If there’s anything else you want to do with him, do it now.” Because within four to six months he loses all his functions. At some point he will not be able to talk, swallow and move, he will have spasms, epilepsy and he will become completely locked up in his own body.’”
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In the moment
It is now almost seven months later and Jelte is still there. “We had heard about four to six months, but now it takes longer. Doctors also cannot say how long he will live. It is very rare that children with this disease still function in this way.” It did lose some features; this way he can no longer walk by hand and he is very weak. But he can still sit. He also has a stomach tube, which will give him his food and medicine.
Her son still talks for ten and a huge one drive to play, says Sanne. “When we lie on the couch, he puts his hand over my eyes and counts down from ten to zero. Then he says: ‘Whoever is not gone has been seen. I am coming!’ He looks at what is possible. You can see him losing, but he lives in the moment.”
Hereditary burden
“We really didn’t know that we were both carriers of the gene. I also have two other children, they are both healthy. We were not allowed to have them tested whether they are carriers, they can decide for themselves when they are 18 years old.”
“Sometimes you think: why us? In the Netherlands, one child is born with this variant of the disease each year. Even the chance of winning the lottery is higher. But we don’t get stuck in it, we really can’t do anything about it.”
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“The future is very difficult for us to plan,” says Sanne. “We try to give Jelte the best possible life and at the same time we also try to be there for our daughters. We also take into account that there will soon be a life after Jelte. But as long as he is there, we are not trying to add days to his life, but life to his days.”
Mourning
In the long term, she wants to set up a campaign to raise money for research and to raise awareness of the disease. “They don’t get this disease from the heel prick, while many other metabolic diseases are included in it. Changing that costs about two million, but then treatment would still have been possible. It is too late for Jelte. But it would be so nice if children born with this disease would have a chance in the future.”
In addition, Sanne shares her story to make grief negotiable. “Many people don’t dare to talk to us, but I always say that there is nothing wrong in this case. Keep asking about it and if possible: give your children an extra hug and tell them you love them. Just because it’s possible.”
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2023-07-01 12:09:34
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