Laura Steinbusch, mother of Enzo living with Leber congenital amaurosis Life around the diagnosis with Leber congenital amaurosis

How did your son’s diagnosis come about?

“When Enzo was born, he had clubfoot. So initially he was treated for that, which included seeing a physiotherapist. She did exercises with Enzo, but whenever she would move a toy in front of Enzo’s face, she noticed that his eyes wouldn’t follow. That was the first inkling that started the search for a vision pathology. First, we visited a pediatrician, then a pediatric ophthalmologist and then a neurologist. He was around four or five months old when they made an electroretinogram, or ERG. It showed that there was no signal coming through from his eyes. The results from a genetic test took nine months. When he was around 18 months old, we knew the cause was his CEP290 protein and he had LCA10.”

What were the consequences of the diagnosis for your family?

“We were actually relieved to know what was going on. Before you have the diagnosis, you start out by looking for things yourself and considering all the options. But you never know for sure until you get genetic testing. Now it’s good to know where this is going, and to know that he is only going to be blind. It could have been something else with more complications. Practically it didn’t change much at the time, because we were already living and dealing with the situation, so it mainly gave us an idea of where we stood. A lot has changed of course, but because Enzo was our first child a lot was bound to change anyway. With some changes it’s clear that it is because of his disease. A lot of things take more time for example. We have to bring him to school with the tandem, because he can’t ride a bike alone, and when he goes on a playdate, we always have to join him the first time to show him around and to make sure the parents of his friend are comfortable.”

What is the situation like now?

“We moved back to the Netherlands, and there you actually need the diagnosis to be eligible for aid or certain specialized schools. You could, for example, get a subsidy to arrange an individual aid in the classroom. He goes to a regular school because we wanted to let him enjoy an education that is as normal as possible. The funny thing is that there are now special apps and digital technology that have made life easier for blind people. Enzo uses a lot of that at school, and now he is often actually showing his teacher how the iPad works! He really is just a bright kid.”

He has bright parents too, as you have a scientific background. Did that help in this situation? 

“Yes, I studied molecular life sciences and then got a PhD in heart metabolism. Now I work at the Maastricht UMC on the diagnosis of metabolic diseases. But I am embedded in the clinical genetics department, and coincidentally I occasionally work with one of the scientists who invented ProQR’ LCA10 therapy, at the Radboudumc in Nijmegen. So yes, I am very aware of genetic diseases and the research and treatment around them. And I’m glad about that, because the different varieties of LCA and their treatment are a complicated story and I can imagine that a lot of parents struggle to understand it all.”

It seems you are doing your best to help them. In what ways are you acting as a ‘patient advocate’?

“I wrote blogs, and I translated many pages from the website wonderbaby.org to Dutch to inform Dutch people who know or have children with blindness. I also visited ProQR to talk about my experiences. Right now I’m excited to say that I have created and published a multilingual songbook! It’s called Lux+Louise and it’s a tactile and musical book, using textures and songs to educate blind kids in a playful way. It was inspired by Enzo, because he uses music a lot to learn things and languages. And with the limited amount of resources for blind people in Dutch, it’s useful and liberating to learn a second language. When he learns English or French his world will become so much bigger.”

How do you feel about Enzo’s future?

“He will always be different, and he won’t have all the options. That is sad. But it would be nice if a treatment could improve his sight, even just a little. That he would be able to see contours instead of the light-dark distinction that he senses now. Reading print would of course be amazing, but for his orientation and energy levels seeing contours would make a huge difference”

Learn more about genetic testing for inherited retinal diseases.