A year after her birth, Lia's parents received the results of the genetic test, which was to explain the "disorder" that caused her symptoms. A problem with her heart was already found in the womb and at birth, it turned out that in addition to being underweight she also had weak muscles and, for example, an increased palate. "I remember that in the beginning I was particularly angry, with everything and everyone," says Annelies. “We had never heard of Kabuki, either. Then you go googling and you find all sorts of things. Our doctor at the Antwerp University Hospital then went through the list with us, which symptoms Lia had exactly. Just like with normal children, a lot of variation is possible within Kabuki."

No longer a ‘special case’

On a family day for Kabuki children, they came across clinical geneticist Prof. Connie Stumpel. Among other things, she leads the MUMC + Kabuki expertise centre and has been working with these children for decades. Since then Lia comes twice a year from Kalmthout to Maastricht with her parents. Father Koen: “We have received excellent assistance in Belgium and still do, but the knowledge and experience that the team has here is new to us. We receive information here that we did not find in Belgium." An example: the parents hope that Lia will one day be able to walk. “Based on her expertise, doctor Stumpel thinks that this will happen. That reassures and gives hope." Mother Annelies adds: "I also like the fact that you are not the ‘special case’ here, but part of a larger group."

Bundling of expertise and research

This group consists of approximately one hundred children in the Netherlands. Stumpel remembers well the first time she recognized a Kabuki child, back in the nineties. Since then, she has built up a team of experts in Maastricht, which in 2015 became one of the expertise centers officially designated by the Ministry. The purpose of these centers is to bundle research, expertise and treatment. Stumpel: "People absolutely must have a care team in their own region, we do regular check-ups and give advice." A PhD student from Stumpel, pediatric endocrinologist Dr. Nina Schott, recently investigated the effect of growth hormone on Kabuki children. "That works great, not just for their height, but especially for the muscle-fat balance, which makes these children get rid of the muscle weakness that makes them take longer to learn to walk."

Growth hormone treatment for Kabuki children

In the Netherlands, health insurers and practitioners have changed tack: from the age of four, Kabuki children can receive growth hormones if they meet a number of conditions. Annelies: “We live in Belgium, ten kilometers from the border and the question for Lia is whether she is eligible. We're going to do everything we can to make it so." The team from Maastricht is also going to fight for the Belgian children, Stumpel promises. For the past three years, MUMC + has also worked closely with institutions in Belgium and Germany on a Euregional project. “It was important for knowledge transfer and to find each other's expertise back and forth. More attention has also been paid to rare diseases, for example among general practitioners in the region. It is not always easy for them to recognize."

In the meantime, Lia is sitting happily on everyone's lap that she gets in her sights. Annelies: “If she can walk, we give a step party. Then all of Kalmthout can come!"

The euregional project on rare diseases is called EMRaDi; Euregio Meuse-Rhine Rare Diseases. It has just been completed, more information on www.emradi.eu

The Kabuki Syndrome Foundation also has a website: www.kabukisyndroom.nl