My illnessAbout 1 million Dutch people have a rare condition. As a result, it is often complicated to make the correct diagnosis and find the right treatment. In this series, experts by experience talk about the impact of this. Today Bendert de Graaf (44) about the Bardet-Biedl Syndrome.
The chance that someone has Bardet-Biedl Syndrome (BBS) is about 1 in 150,000. But that small chance does not mean much to Bendert’s son Jayke (8): he has the syndrome, his parents are both carriers of the underlying DNA mutation. Bendert: ,,It doesn’t happen very often, then you still have to meet each other and then also pass it on.”
What is Bardet-Biedl Syndrome?
It Bardet-Biedl Syndrome is a hereditary disorder of the cilia (cilia), caused by a change in the DNA. Ciliary dysfunction causes problems in several organs, including the retina, kidneys and brain. The occurrence and severity of symptoms vary widely, but common include extra fingers or toes, kidney problems, visual field loss, intellectual disability and obesity. It is estimated that there are between 100 and 150 people with BBS in the Netherlands.
Jayke was born in 2013 after an emergency caesarean section with extra fingers. The first reaction from Bendert, who has studied molecular medical genetics himself, was: does he have a syndrome? “But I almost got kicked out of the operating room. He looked normal, didn’t he? I thought: maybe I am also that overprotective father.”
Once we went to the doctor, we were also swept away like overprotective parents for a while
Yet Bendert and his wife soon noticed that their son moved a little more woody than other children, rolling, crawling and running. ,,First you talk that away, because every child is different. But once we went to the doctor, we were also swept away for a while as overprotective parents.”
The syndrome was diagnosed in 2016. “On the one hand, it’s something you don’t want to hear. On the other hand, you finally have the hope that you can do something about it.” For example, Jayke was able to go to school with intensive speech therapy at the age of two. He is still difficult to understand. In terms of motor skills, he remains clumsy and his weight increases. “But we still have this under control. We now know that he has the mildest mutation.”
When Bendert thinks about the future, he is mainly concerned about the loss of sight. ,,That is terribly natural, if you can see first and then no more.”
The consequences of the syndrome extend further within the family. When it was still unclear what was going on, Jayke’s mother was expecting a girl. “During the pregnancy, she was found to have enlarged and malfunctioning kidneys, extra fingers and club feet.”
Bendert and his wife faced a difficult choice and decided to terminate the pregnancy, especially since the girl would probably die immediately after birth. Then came another difficult choice: did they want an autopsy?
Genetic testing can be a kind of death or disease sentence for yourself. The naivety of just thinking you can quietly turn 80 is really taken away from you
Bendert: ,,Genetic research can be a kind of death or disease sentence for yourself. The naivety of just thinking that you can quietly live to 80 is really taken away from you.” In the end they opted for an autopsy and during the next pregnancy they received the result: BBS. Fortunately, their youngest son did not carry the mutation. “It stops with him, what a relief.”
Bendert and his wife have a kind of dichotomy: she is more involved in the care, he mainly takes care of the ‘business’ side. ,,Of course I also do fun things with Jayke, but I do the conversations with the doctors, for example. We keep him out of the wind as much as possible.”
The long road to diagnosis has taught Bendert a lot. He advises other parents to be a little cheeky. “Otherwise it is difficult to get things done. And don’t take everything for granted. If you have any questions, look up interest groups. They understand what you are going through and can help you on your way.”
The VSOP, the patient umbrella organization for rare and genetic disorders in the Netherlands, has been of great help to him. And within two days of Jayke’s diagnosis, he set up a specific foundation for BBS himself. “I couldn’t believe that we were more expert than doctors, and that there was nothing for parents or adults with BBS.”
Some with BBS eat an apple, so to speak, and still get very fat
The lack of awareness creates challenges in many rare conditions. “All the attention and money go to bigger causes. Everyone knows someone with the condition, or has to deal with it themselves. With less than 150 people with BBS in the Netherlands, it is more difficult to notice.”
Bendert therefore expands the network of his foundation through a worldwide collaboration, ‘this quickly involves tens of thousands of people.’ And there are hopeful developments. “Some with BBS eat an apple, so to speak, and still get very fat. Now there is a trial with medication for weight loss, which has worked very well so far.”
There is also a trial with gene therapy to prevent visual field deterioration or even blindness. “That’s really the first thing you want to do something about. It is psychologically and socially very difficult when you become blind at a later age.”
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