On Thursday, International Batten Awareness Day, worldwide attention will be drawn to Batten disease, an extremely rare and incurable neuro-metabolic disease. In our own, Sarah van den Weingart and Bart de Keyser of Sint-Job (Brecht) were told in December 2020 that their daughter Aline (5) has CLN2. On the occasion of International Patten Day, Sarah wants to draw attention to a genetic test that costs 1,400 euros, but can prevent much suffering. “Because you never think, ‘This is not going to happen to us,'” Sarah says.
In December 2021, Sarah posted her story to the public on the Facebook page Aline Verhaal – Batten disease CLN2. 1,800 people now follow the page that Sarah posts a monthly update on.
There are thirteen types of Batten disease, but CLN2 is one of the most brutal types of Batten disease. In Belgium, Sarah was unaware of Allen’s patients suffering. But via Facebook, she reached out to her other Flemish parents who are going through the same suffering. Children with CLN2 lose their ability to talk, walk, and swallow after a few years and go blind. Life expectancy is between 8 and 12 years.
rare metabolic diseases
Precisely because it is a rare metabolic disease, the diagnosis is usually not made until the first symptoms appear at the age of three. “Which makes it so unfortunate that the existing treatment can’t start until so late,” Sarah says. “It is not a life-saving treatment, but one that allows our children to maintain a higher quality of life for a longer period of time,” Allen continues. Enzyme replacement therapy. Sometimes we wonder if treatment helps, because people see Allen deteriorating further. But we notice a difference. Without this treatment you will not be able to walk independently. The regression she would normally go through, say, six months, is now spreading over years. Her anxiety has improved. Whereas in the past she had reacted obsessively to unfamiliar sounds, now this was much better. She has an impulse processing disorder, but we can do the activities again as a family like another family with children. To a family party from work, to the fair, the zoo: it’s running again, although we try to finish on time and include a moment of rest. Aline is still our child who worries about multiple disabilities, but her quality of life and the quality of our family have improved since treatment.”
Detecting genetic errors before pregnancy
CLN2 is a storage disease. The earlier the diagnosis, the better, because the faster treatment can be started. “Although Bart and I come from healthy families, we actually had a NIPT test when I was pregnant with Allen. Then you think our baby is healthy. But what I wasn’t aware of at the time is that this non-invasive screening test only tests for three abnormalities. In the chromosomes by analyzing the DNA of the child in the mother’s blood.It would be better to know before pregnancy by checking the genetic carrier for the genetic errors that you and your partner are carriers of, because we all have it.When both parents are healthy carriers of a mutation in the same gene, it is with For every pregnancy there is a 25% chance of having a child with a genetic disorder.If you know that many people have a NIPT test, but the genetic carrier screening that checks for more than a thousand genes linked to all kinds of genetic diseases is still virtually unknown, I hope that changes. The price is high, about 1,400 euros they are tested as a couple. But if Bart and I had known, we would have done it anyway.”
Sarah hopes that genetic carrier screening will be well established and compensated like NIPT within ten years. “Heel pricks would be expanded to detect SMA, for example, but why not better preventative screening for parents? Couples who know they have an increased risk because they carry a specific gene defect can use IVF to screen embryos with genetic testing before implantation in the womb.”
Nathan, Allen’s younger brother, has already been tested, but he does not have Batten disease. You can order the test at one of the eight Belgian genetic centers or through your doctor, before you want to become pregnant. “On the eve of International Batten Disease Day, I want more people to know this,” Sarah says. “We were also ignorant.”
Facebook: Allen’s story – CLN2 Batten disease