Amount of research gives hope for treatment

Ralph is 48 years old and lives in Utrecht. He has three children, one of whom has already left home. Ralph works at Schiphol as an air traffic controller and in his spare time he enjoys sports and DIY. He is only a carrier of ADOA and experiences no complaints himself.

'My youngest son has ADOA, we found out about that about four years ago. His vision deteriorated from 80 to about 50 percent within a short period of time. Then we started looking and it turned out to be ADOA.' Through his son's diagnosis of ADOA, Ralph discovered that he himself is a carrier. 'My father, now deceased, also had very poor eyesight, so there is a good chance that he also had ADOA.'

What was it like to receive that diagnosis for your son and how do you deal with it as a parent? 'This was of course quite a shock for me and my wife. You mainly don't know what the future will bring for him. There were also a lot of changes after the diagnosis. For example, we were once in an ice cream shop that was very busy. When we asked my son to check which flavor of ice cream he wanted while waiting, he turned out to be unable to read the signs. My wife has herself

mainly focused on what he needs now. This way he gets extra time for tests at school and he can take them on his laptop. I have mainly been concerned with what is going on in terms of research into ADOA, in other words, what we can expect in the future.'

 

Ralph's other children have been tested and do not have ADOA. 'We are happy that we know that now, but in retrospect we may have had them tested a little too quickly. Bartimeus advised us that and we did not really think about the possible consequences. When the clinical geneticist gave us the results, we only became aware that we could perhaps have waited until the children could decide for themselves whether they wanted to be tested.'

Ralph is involved with the Cure ADOA Foundation. He looks for ongoing investigations and tries to gather as much information as possible. 'How did you become involved with the foundation and what is your motivation for this work?'

'It started with the Facebook group, where I read an article about Stokes' research. I wrote to them and shared my results with the board. I came into contact with Hedy from the board and she had a large document with all kinds of research. I started looking into that. Lots of calling, emailing and asking questions. I make the first contacts with research organizations and try to separate the wheat from the chaff. Do we have to delve into something or is it still far too vague? I often do this together with a number of other board members of the foundation.'

Ralph is hopeful when it comes to investigations. ' Compared to 5 years ago, there is a lot of research in the field of ADOA, Glaucoma and Leber. There's a lot going on. There are two or three commercial companies seriously developing a drug for ADOA. I maintain close contacts with them. The researchers outline a timeframe of 5-10 years for treatment to keep vision stable. Unfortunately, it is a bit more difficult for ADOA+. Most researchers do not dare to say much about this yet. Other processes in the body also play a role. Gene therapy is also being worked on. That timeframe is closer to 10 years and there is also an expectation that there will be a limited degree of improvement in vision. So positive!'