Home>Stories and interviews

Daniëlle talks about her passion for cooking and baking

2022-09-11T11:44:26+02:0011 september, 2022|

Daniëlle has ADOA. Although her vision is, to put it mildly, not optimal; cooking and baking are her passionate hobbies.

Ever since I was a child, there has been one thing I have loved to do, and that is cook and bake. I am glad that at a young age, I was allowed to help my mother and grandmother in the kitchen with chores such as shelling the beans.

In the meantime, cooking and baking have become a hobby that has got a bit out of hand and with which I also partly earn my living with as a foodie on social media. I find baking in particular very relaxing to do and in the end, it almost always results in something delicious!

While standing in the kitchen, I enjoy the smells that are produced.

My eyesight (16%) does not hinder me in the things I make or want to make. I love to try new things. Sometimes it takes a bit more time, but I don’t mind. I take my time! As long as I don’t have to take part in a tv programme with time constraints, I’ll manage!

I don’t have any other adjustments for when I’m cooking. In terms of timers, I do use the smart speakers in the house, they are fantastic!

I also do a lot by feeling, I use my sense of smell and I particularly enjoy being in the kitchen.

Would you like to follow Daniëlle? You can do so via Instagram (over 11,000 followers!) or via Facebook (over 1500 followers!).

Too visually impaired for a normal driving license, but still able to drive

2022-09-12T09:07:04+02:005 september, 2022|

For people with a visual impairment, driving a car is not as straightforward as it is for most people. Being visually impaired does not always mean that obtaining a driving license is impossible, but people with visual impairments do need to be regularly examined. Rejected for the normal driver’s license? In the past, you would have been out of luck, but since 2009 there is a new regulation: driving with a bioptic telescope (BTS). Kirsten Smit (21) is happy to tell us about her experience with the BTS.

Hello! I am Kirsten Smit. I am 21 years old, and I study Fine Arts and Design in Education in Groningen. I also have ADOA and currently only have 30% vision.

When I was little, it already became clear that driving a car was not for me. The limit for driving is 50% vision, which I had already passed at that point. I have always found this a bit unfortunate, but there were no exceptions or regulations to assist visually impaired people at that time. When I turned 16, I got my scooter license, because there are no medical requirements or examinations for that. I was very happy with it. I always enjoyed riding my scooter and jokingly said I would later pick a very handsome car driver who could drive me around, since I was not allowed to do so. But when I turned 17, it was suddenly possible for me to drive a car while using a device called a BTS. A BTS is a kind of spectacle with a telescope in it that allows you, for example, to see the road signs or exceptional situations on the road. It took some getting used to, but after a lot of special lessons at VISIO in Haren and driving lessons with Rosita, I learned to drive using this brand-new device. It was like a whole new world opened for me, even though there were exceptions and limits attached to my license. For example, I was only allowed to drive one hour after sunrise to one hour before sunset. During the summer, this is fine; however, during winter this can be come increasingly difficult. The sun already goes down around five o’ clock.

Even this changed a year ago. All people using a BTS to drive were allowed to take the driving test again, individually, but this time for driving in the dark. I attended the exam together with my mum and passed it! Now I can drive with the BTS whenever I like.

I live in Groningen, so I often drive home to Drenthe over the weekends. It’s nice that it can be done this way today and that I now can be my own handsome driver 🙂

Kirsten has emailed the created of the BTS with some questions. WE hope to get an answer soon, so we can share some more information with you!

Contributing to the quality of life for people with visual impairments

2022-09-05T12:01:53+02:005 september, 2022|

Interview with Ruth van Nispen. As of the 1st of June 2021, Ruth has been appointed professor of ‘Visual Functioning & Health’ at the Department of Ophthalmology of Amsterdam UMC. This new permanent academic position is associated with the Amsterdam Public Health research institute and the Free University of Amsterdam. The creation of this new position acknowledges the need for much needed attention on the impact that a visual impairment has on the overall health and functioning in daily life and society. For over 15 years, Ruth has been contributing to improving the quality of life, mental well-being, and participation of this target group. You can find more information about the research and treatments here: https://lowvisionresearchamsterdam.com

Could you introduce yourself to us?

I am 49 years old and grew in in Vlissingen, Zeeland. Thirty years ago, I moved to Amsterdam to study psychology. There were very few jobs in social work, but an internship at the Antonie van Leeuwenhoek hospital got me hooked on doing scientific research. You may be more at a distance and not directly helping people in t

he field, but you may be able to discover things on a larger scale which indirectly helps a larger group of people. That’s what the true appeal of doing research was for me.

What did you do after your studies?

After my studies, I worked at Nivel for a few years. It is a research institute in Utrecht that conducts research into general healthcare. One of the things I did research on were people with rare diseases. It included research into the quality of life of this focus group in comparison to people with more common diseases. If you are doing research and you want to make progress, at some point it is a good idea to study for a PhD. In 2005 I found a PhD position at the VU Medical Centre in Amsterdam. I ended up in the ophthalmology department with ophthalmologist Ger van Rens, professor of visual rehabilitation.

There I spent four years doing research on the effects of rehabilitation of people with visual impairments. I also did a lot of work on questionnaire development to be able to reliably find out what is going on with people.

At the time I also found out that depressive symptoms occur in about one in three people who are partially sighted. This was also mentioned in the literature, but I saw it confirmed in my own research.

I then devised a study to see how these depressive symptoms could be prevented from developing into a real clinical depression. After all, mild complaints increase the risk of developing a depressive disorder. One of the first follow-up studies that I did with my PhD student Hilde van der Aa was into the cost-effectiveness of a treatment that prevents people from developing a disorder. The treatment turned out to be highly effective in reducing complaints and preventing disorders.

What other subjects are you researching?

In the meantime, all kinds of other questions came in from various groups of visually impaired people; especially through Royal Visio and Bartiméus. I have addressed these research questions as much as possible, applied for grants, and now I have quite a large group of people conducting research on various topics relating to visual impairment. For example, we are conducting research into fatigue, another common problem.

I also do research that is more in the direction of clinical research. For instance, I am currently conducting a major study on the effects of corneal transplants. In particular, the effect of the disease and surgery on the quality of life and participation of patients. In other words, can you continue to work, take part in society, and what about your mental health? After a cornea transplant, patients can continue to suffer from pain, dry eyes, and discomfort from light, this can make it physically difficult to continue to do certain things.

Can you tell us something about your professorship?

Presently, I have made a career in my department and have become a professor. As a professor, Ger van Rens held a special position for 20 years on behalf of the General Society for the Prevention of Blindness and then on behalf of Royal Visio. The Robert Coppes Foundation was interested in linking our department and me through a special professorship. They wanted more attention for research into people who, in addition to a visual disability, also have other disabilities, such as psychiatric problems.

The Vrije Universiteit (Free University) in Amsterdam thought that, after having had a special position for 20 years, it was time for a permanent position. That is fantastic, because it is an enormous recognition for the target group of people with visual impairments. The VU considers this topic to be so important, both scientifically and socially, that they want it to be given permanent attention, so to speak. We have had a close collaboration with the Robert Coppes Foundation for a long time, so the research for their specific target group has become an important part of my line of research.

What is your drive, what makes your job fun?

Helping people. Ultimately, with this research I want to achieve that people experience less misery from the limitations they have, and so truly improve their quality of life.

What makes me happy is that we have developed a treatment for depressive symptoms. We have been able to calculate how many people have genuinely improved compared to people who did not receive the treatment. We are now doing the same with the treatment for fatigue related complaints.

We devise such a treatment together with other scientists and have adapted it for people with visual impairments. Experts by experience, i.e., people with a visual impairment, also are part of our design team. We are now testing this treatment in a large study to see if people really benefit from it. I think it is very cool to be able to test your research and see that people are experiencing direct results. For some, this means that they can pick up their hobbies again and for others that they can go back to work. And that they can take part in society again and that you don’t have to sit in a corner because your vision is impaired.

How can we access the treatment for sombreness and depression?

The stepped care treatment for the elderly (50+) with somberness or depression can be taken via the Robert Coppes Foundation, but also Royal Visio and Bartiméus have this and other treatments. 

More information: https://www.visio.org/nl-nl/home/actueel/nieuws/2021/januari-2021/behandeling-somberheid-ouderen-visueel or https://www.bartimeus.nl/specialistische-kennis/verlies-van-zicht-een-levend-verlies.

What are you currently working on?

Many different projects. We are still developing Patient Reported Outcome Measures (PROMs). For example, one project is aimed at people with macular degeneration, in which one can get haemorrhages in the retina, which can nowadays be treated with injections that reduce the haemorrhages. The questionnaire for these patients is about quality of life, but also about how you deal with it in daily life. So how do you cope with reading, driving a car, shopping independently. That sort of thing.

The idea is that the PROM reflects the patient’s perspective as well as the ophthalmologist’s perspective, which is about treatment. The ophthalmologist knows how things are going clinically, because each time the vision is measured, but the ophthalmologist does not know how things are going practically at home.

Through the PROM questionnaires, the ophthalmologist can get a better idea of this and, if necessary, call in extra help. This improves the care a little.

Other projects deal with depression and anxiety because they are and will continue to be important themes. For instance, there is fear of going out on the street or fear of going blind, so we are researching the psychosocial aspect of a visual impairment.

In the field of public health, we have a large study on eye screening in home care. This is mainly about the elderly because severe visual impairment is most common in the elderly. It is often age-related eye diseases that cause permanent visual impairment, such as macular degeneration, glaucoma and diabetic retinopathy.

It is known that many people in nursing homes are severely visually impaired, but this is much less well known among the elderly who still live at home with home care. Since people are living at home for longer periods of time, we thought of working with nurses to see how the eyes of these elderly people are doing. There is not much attention for this yet, while many health problems arise from this. Depressive symptoms, and an increased risk of falls and bone fractures, such as hip fractures, are a few examples of this.

A vastly different research project that I have become involved in, are some studies on biomarkers in the eye related to Alzheimer’s disease. We are investigating whether we can detect Alzheimer’s at an early stage by conducting different types of scans of the retina at the back of the eye.

What other types of research is conducted at the ophthalmology department of Amsterdam UMC?

In my line of research, I am mainly concerned with the impact of visual impairment on daily life and quality of life. But we also have research going on in the field of macular degeneration (Prof. Schlingemann), the heredity of eye disorders (Prof. Camiel Boon and Prof. Arthur Bergen), retinoblastoma, a rare eye cancer in small children (Prof. Annette Moll) and in the field of orbital surgery (Prof. Saeed), which involves the eye socket and problems caused by Graves’ disease, for example.

The merger of the AMC and VUmc sites into Amsterdam UMC has enabled us to bring together some exceptionally good areas of research. We do a lot of fundamental work from the laboratory, clinical research (into the effectiveness of medication and gene therapy) and I mainly do applied research (practice-oriented and focused on the impact on people’s lives).

Apart from my own research, one of my tasks as a professor is to publicise the fact that our Amsterdam Eye Centre conducts high-quality scientific research from the laboratory bench to the kitchen table.

Were you familiar with ADOA and ADOA plus?

No, I did not know it. I have seen a lot of rare diseases in recent years, but not this particular one. Of course, I am familiar with the phenomenon of opticus atrophy, but I did not know that it had a specific dominant inheritance.

Do you have any tips for people with ADOA or ADOA plus?

Although it is not a tip, we have a large study underway together with Visio Het Loo Erf that also deals with people who have both a visual and a hearing problem. A well-known example is Usher’s disease. We want to look at how these two senses work together and compensate each other when one or both becomes impaired. We look at the tipping points, when does the degree of vision loss and/or hearing loss affect mobility, information processing, communication and energy balance. People don’t seem to notice this compensation mechanism themselves. We discovered this by asking people who have this joint impairment. It turns out that people find it exceedingly difficult to describe how compensation works. Hopefully, we will soon be able to measure this and find leads as to how we can advise people specifically with aids or training. This research is perhaps relevant to your target group given the hearing impairment that can also occur with ADOA.

Realization – Saskia Veenstra 

2022-08-02T19:32:21+02:001 maart, 2022|

As a child I never felt different from other children. My mother was visually impaired, and around the age of six it became known that I was also visually impaired.

In my younger years I went to special education for blind and visually impaired children. After school I played with the neighborhood children, like every normal child. I guess I had already taught myself tricks, so that I actually did not suffer from my disability or felt different than others. For example, I stayed near to my friends, so I couldn’t lose them so quickly. Of course I missed some things in my life, but I just didn’t know any better.  In my adolescence things were the same. In that time I have always said that my disease did not make my life any worse.

But when I got children of my own I realized how poorly my vision was and how much things I actually missed. That realization was very painful and still is. There are so many little things I can not do or see because of my vision.

When I brought them them to preschool for the first time. All the other moms were looking through the window and said things about their children, while I couldn’t even see my child. And when I picked them up I could not see if they were happy or not. I also questioned if they could even see me, because I could not see them. That often went well, by the way. They also didn’t know better than that their mother is visually impaired.

When there was a Christmas performances from school I of course came but I often couldn’t even find them on stage. I couldn’t see if they liked it or not. I did often ask their father, but still it’s no fun not being able to see your own child when they perform.

Simple things like letting my children go play at a classmate’s house were already challenging. Especially if I didn’t know the address. Luckily my children helped me with reading the house numbers. If friends came to play at our house this was also a little bit stressfull. Because what if they just leave and I’ll have to search for them. Impossible!

Yes, I’m kind of glad they’re older now. The oldest two are adolescents and the youngest is starting to show signs of puberty as well. Sometimes they were a bit embarrassed for me. Happily, this went away quickly.

I don’t think it bothers my girls much that I am visually impaired. For myself I find it much more annoying and, as I wrote, also painful. But the main thing is that I always try to stay positive. I do as many things with my children as I can.

And now when they are a little bit older I can go shopping with them. They are no longer embarrassed by me. I can also have a good chat with them about my visual impairment. The oldest sometimes says: “It doesn’t bother me at all that you can’t see well. It is just the way it is. I’m used to it and I think it’s great how you do everything.” Well that’s nice to hear, isn’t it?

I am super proud of my girls! We are having a good time together. I don’t need to see their faces to know how they are doing. I do not have to hear them either. I feel immediately upon entering that they are cheerful or not. And I think many blind or visually impaired mothers recognize this. Never doubt your feelings. They are always right. And whether you’re blind or partially sighted or fully sighted, you are a good mother. Especially when you want to be one!

Going to school with some extra guidance – Henk Benjamins

2022-08-02T19:32:38+02:001 maart, 2022|

Note: this article is about guidance in the Netherlands. Do you know agencies in your own country that provide similar care? Please let us know by emailing us at kim@adoa.eu and we will add it to this article!

What does my student see and what doesn’t he? Are there any adjustments needed in the classroom? Won’t my classmates think my aids are weird?
Won’t my son be bullied more quickly because he is visually impaired? Will my little daughter be able to participate in gymnastics?

These are questions that I get asked regularly in my daily work. My name is Henk Benjamins, ambulatory educational supervisor with Visio Education in Haren.

Visio Education is part of Royal Visio, a national institution that deals with Research, Rehabilitation, Education and Living for the benefit of people – young and old – with visual impairment.

When a child with a visual impairment attends regular school, a lot of school things go just as they always do. Some things, however, go differently. This can raise questions with teachers and parents, but also for the child or adolescent or among fellow pupils. At Visio, we have specialized teachers – called itinerant educational assistants – of whom I am one, who can answer these questions and who support a visually impaired pupil in all school matters that are a little different. Together with my colleagues, I support not only the student but also the teachers and tutors at school. We do this in all forms of education and from preschool to student. For children and young people with a visual disability it is also nice to go to school or follow an education in their own environment. Because of the itinerant educational guidance this has been possible for many years and with success!

The goal of itineranty educational support is to enable a child or young person with a visual disability to participate in regular (or special) education as good as possible. The paediatrician, together with the pupil, the teachers and often also in consultation with the parents, looks at what is needed to make this possible. This could involve special aids, such as a laptop with magnification software or adapted teaching materials on A3, digital or in Braille, but also, for example, better lighting during schoolwork or extra time for a test or exam. Giving advice and teaching skills is customized, aimed at the specific situation and needs of the student or pupil. For example, a child or young person who is partially sighted as a result of, for example, Autosomal dominant optic atrophy (ADOA) requires different adjustments than a child with another visual disorder. On top of that, each child is also unique with their own personal characteristics and abilities.

“I like to talk to my itinerant educational assistant about school and how best to approach something. For example, drawing with a thick pen is more convenient than with a pencil. And I have now exchanged my school books for digital books on a laptop. I also like that he explains to the teachers what condition I have and how they can best deal with it. Through simple tips like writing larger on the board or by sharing the image of the IWB with me and extra time during a test, the lessons are a lot less tiring for me”.

The itinerant educational guidance is not only aimed at good education, but also at the formation of the child or young person into a person who later, despite his or her disability, can participate fully in our society. In this process, the stimulation of self-direction of the child or young person is an important aspect. Furthermore, the educational supervisor thinks about the future possibilities of the student and informs the school and parents about the legal and financial regulations.

In secondary education, guidance takes on a different form than in primary education, and similarly in vocational training and higher education. Guidance is directed towards what is needed in the educational situation, working towards the young person being able to find his or her way independently with the right skills and necessary aids. The educational educator gradually takes on a more coaching role. Of course the responsibility for the education of the pupil or student lies and remains with the school concerned.

For questions that fall outside the expertise of the itineran educational assistant, he or she will refer teachers and parents to other support services within Visio. Examples include relevant activities and training, ophthalmological examinations, ICT training, automobility solutions (getting your driver’s license) by Visio Revalidatie & Advies. In short, the itineran educational assistant is the contact person for everything that is involved in the visual disability of the pupil or student at school.

General information about Visio can be found on their website: Royal Visio
For information or registration, please contact our Client Services Office: 088 585 85 85

My view of the world – René van Gerwen

2021-10-03T15:49:00+02:003 oktober, 2021|

3 July 2021, René van Gerwen

As a small child, I probably had 30-40 % vision; it is probably because my file disappeared thanks to arguments between eye doctors. Now, at 64, I can see 5-10 %; the deterioration is slow but steady. I have ”normal” glasses. -4/-5 glasses. Within my family (incl. nieces/cousins, through father’s/grandmother’s line), the OPA1 gene defect has been diagnosed in at least 5 relatives. I have no ”plus symptoms” so far, not even in the family, as far as is known. I experience my life as normal and privileged because of all the opportunities I have been given to make something beautiful out of it.

Since I have contact with fellow-sufferers, I have noticed that not everyone has the same view on what a normal life is. This gave me food for thought and a reason to tell something about my life in 500 words. With this, I hope I can encourage and inspire others in a similar position.

I was taught from an early age to act ”normally”, not to see myself or behave as an exception or as being limited. That’s how my parents brought me up. My father had a similar visual impairment, had a great business career and never set himself up as ‘limited’ either. With this strategy in mind, I studied mechanical engineering in Delft and then worked for various companies, including TNO and Unilever. At Unilever, I spent 16 years travelling all over the world to design the technical installations at factories, supervise construction, solve problems and train employees. The limitations I encountered during all that travel and work were always solvable. Over 5 years ago, I got fed up with this beautiful rollercoaster job and resigned to start my own one-man engineering company, which has been running like clockwork ever since.

Looking back on my life so far, I am happy with my strategy, because it has helped me to get a lot out of my life and has given me a pleasant sense of autonomy. But that this does not always happen automatically became clear when I applied for my first permanent job, with an engineering degree in my pocket. The medical examiner (it was obligatory in those days): ‘But sir, what are you doing here with me? If a typist stands in front of me with one hand, I don’t approve of him either, do I? Here is a leaflet with the application procedure for incapacity for work and benefits. Good luck.” After a formal objection procedure, I was temporarily approved for one year; then it turned to: ”You have shown that you function well and there are no problems; why should I, as an examiner, start making problems?”

With these and other experiences, I can advise fellow sufferers to stand up for themselves, to make good use of all the help and support available, but also to stay in control and to remain critical of patronising and pampering. And also: follow your dreams and ambitions; much more is possible than you initially think. If you want to know more or want to discuss something with me, you can contact me via one of the boardmembers of the Cure ADOA Foundation.

‘Amount of research gives hope for treatment’

2021-10-03T15:32:28+02:003 oktober, 2021|

Ralph is 48 years old and lives in Utrecht. He has three children, one of whom has already left home. Ralph works at Schiphol Airport as an air traffic controller and in his spare time he likes to sport and do DIY projects. He is only an ADOA carrier and experiences no symptoms himself. Our board member Maud interviewed him.

What is your link with ADOA?
My youngest son has ADOA, we found out about it about four years ago. His vision deteriorated within a short time from 80 to about 50 percent. Through the diagnosis of ADOA in his son, Ralph found out 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 this diagnosis for your son and how do you deal with it as a parent?
Of course it was a big shock for me and my wife. You mainly don’t know what the future holds for him. A lot of pennies dropped after the diagnosis. Once, for example, we were in an ice cream shop where it was very busy. When we asked my son to look for the flavour of ice cream he wanted while we waited, it turned out he couldn’t read the signs. My wife is mainly concerned with what he needs now. At school, he gets extra time for tests and he can do them on his laptop. I have mainly been busy with what is going on in terms of research into ADOA, or in other words, what we can expect in the future.’

Ralph’s other children have been tested and do not have ADOA. We’re glad we know that now, but in hindsight we may have tested them a bit too soon. Bartimeus advised us to do so and we didn’t really think about the possible consequences. When the clinical geneticist gave us the results, we realised that we might as well 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 research and tries to gather as much information as possible.

How did you get involved in 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 to dig into it. I made a lot of phone calls, sent e-mails and asked questions. I made the first contacts with research organisations and tried to separate the wheat from the chaff. Do we have to delve into something or is it still too vague? By the way, I often do this together with some other board members of the foundation.

Ralph is hopeful when it comes to research. Compared to 5 years ago there is a lot of research in the field of ADOA, Glaucoma and Leber. There is a lot going on. There are two or three commercial companies seriously working on developing a medicine for ADOA. I maintain close contacts with them. The researchers outline a time path of 5-10 years for a treatment to keep sight stable. For ADOA+ it is unfortunately more difficult. Most researchers do not yet dare say much about it. Other processes in the body also play a role. Work is also being done on gene therapy. That timeframe is more likely to be 10 years and it is also expected that there will be a limited improvement in vision. Positive therefore!

The story of Elina

2022-08-02T19:33:27+02:0013 maart, 2021|

When I was in 7th grade I noticed that my eyesight was worse than that of all my classmates, I could not read the IWB and was bothered by the bright light of the fluorescent lamps. I asked the teachers if the screen could be a bit bigger, but apparently I was a big poser, because they didn’t believe me. Finally, together with my father, I went to the eye doctor in the village. He sent me to an ophthalmologist in the hospital who referred me to the UMC in Utrecht. This all left a deep impression. What a lot of tests! Later it appeared that my optic nerve was small, but they said ’this will grow back’. At that time I saw about 80%, but glasses did not help. I had to wear a cap in the classroom and then I would have less problems.

Years later
The years that followed I denied that I really had something wrong with my eyes until 3 years ago. Meanwhile, I was 18 years old and I met my boyfriend. Together we had a lot of fun, went to amusement parks, watched movies and went out for dinner a lot. My boyfriend and his mother noticed that I was making a lot of effort to, for example reading the subtitles at movies and when walking between small things. This was followed by a hard struggle with myself: I saw 80%, 20% less than them, well that was just the way it was. But my friend and my mother-in-law told me to have it checked again, maybe it had diminished. Together with them I went to the eye doctor in the village. He could not measure anything wrong, my eyes were fine, but still I saw badly. He did not understand this and sent me to the ophthalmologist in the hospital. I first thought, not again, I do not want this! And yes, again some tests. Yet he did not trust it, so I was sent to Bartiméus in 2019. I got several tests and there was the ‘redeeming’ answer: I have ADOA. And what did I think? I was shocked and didn’t understand anything anymore. I got a lot of explanations and we did not understand why the UMC had treated me like that. But that was the past!

The Future
Now I could finally look ahead. Although I often find that difficult. I often think: “If I start a training course now in what I like, will I be able to do this work in two years or will my eyes have deteriorated again by then? I received and am receiving guidance in this. They have been to my home to give explanations to those who are close to me and who can guide me well. They have made sure that I can do my work well by adjusting my workplace slightly. My computer has also been adjusted with the colors and I learned to be more handy with it, which benefits me a lot. Recently I started wearing filter glasses with a light transmission of 11%, which helps to reduce the many headaches and fatigue due to the light and efforts during my day. I can’t accept it very well yet, I can see about 35% now. What if I didn’t have this, then life would be a lot simpler. Despite that there are also a lot of nice things and I can more easily indicate what is going on or if I need help: ‘I just don’t see it!’

I’m grateful for my boyfriend and mother-in-law, who, just like my father, help me enormously through this sometimes difficult struggle by, for example, reading letters that are in too small print, holding my hand in the dark so I don’t have to concentrate too much or just listening when I’m having a hard time and experience too many struggles. But most of all accept me as I am and help me as much as possible!

Lia tells her story

2021-03-14T17:03:06+02:0013 maart, 2021|

Dear fellow sufferers,

In the piece that follows, I share my experiences with Adoa+. When I was about 45 years old (1989), I went to the ophthalmologist in Amstelveen for the semi-annual check-up. At the end of the consultation, he asked if I had any questions and I said that my vision was poor even with my glasses on (I am nearsighted). He immediately replied that my optic nerves were dying and that I would slowly go blind.

He immediately added: “Well, see you in six months” and led me to the exit. Bewildered by this unexpected announcement, I then stood outside again. I had had no opportunity to ask questions and tried to forget about it, but still often had to think about this remark, which was puzzling to me. After six months, of course, I was back again.

The ophthalmologist then said that this condition occurred in several of my relatives and also in my mother. He wanted to do a PhD on it, but since my mother was not in the mood for all kinds of examinations (she was about 83 at the time and demented) this was not possible.

A few years later we moved to Hoofddorp where I got an ophthalmologist who immediately mentioned the name of my condition and said he knew something about it, because he had assisted a couple who had done research into it. During my next visit to him, he asked me if I wanted to participate in a color test. Of course I wanted to and so I learned that I had arranged the colors incorrectly exactly according to the book. According to this introverted doctor, who was very exited and was almost cheering for joy, this proved that I was color blind and had (A)DOA. He also told me that the Normans had brought this condition to the Netherlands long ago and that most of the Dutch patients live in Katwijk. I still knew little about it and so did the eye doctor, as it turned out later. When I got an iPad and could look up what (A)DOA does to your optic nerves, I understood a little more.

Years later I looked again and saw that there was also a DOA+. When I read about that, everything fell into place. I suddenly understood why I had fallen over so much, why my hearing had also deteriorated, why I often choked and why I had trouble pronouncing difficult words in the evening, and also had neuropathy in my feet, legs and hands. And then I suddenly remembered that my mother, who died in 2000, also suffered from all these things. But at the time, we didn’t even know the name of our condition, let alone the symptoms.

It was nice to understand why I have these symptoms, but also frightening. I could see me in 10 years sitting in a chair: Blind, deaf, no longer able to talk, eat, move, etc. Not a nice prospect! After a few gloomy days, I spoke sternly to myself and resolved to live in the “now”. Nobody knows what the future will bring, including me. Maybe it will all turn out better than expected.

The ophthalmologist of the color test has now retired. The years before that I always informed him about the facts that I found out on the Internet. He was always very interested in this. I was also examined for half a day at the AMC in Amsterdam. These examinations also showed that I most probably have (A)DOA.

The last few years I felt the need to meet fellow sufferers more and more. I was told that I had to go on Facebook. I never wanted that, but then I did it anyway. The next day I had about 200 friend requests from people I did not know at all. I was shocked and got off quickly.

A while later I suddenly got the idea to call the Oogvereniging, a Dutch patient association for eye diseasses. They gave me the phone number of the secretary of the ADOA patient group: Cure ADOA Foundation. I called immediately and got Gabriëlle on the phone, who told me that she also has Adoa+ and that few people have this plus. I was so happy to have finally found a fellow sufferer and then someone who also has a plus! At the same time I sympathize with her because she still has a whole life ahead of her and also has two young children.The zoom-meeting on the internet last year was also a very special experience for me; seeing and hearing people who have the same condition as I have. It struck me how cheerful everyone was.

Hopefully a cure will be found in the near future!

With kind regards,

Lia Krayenbosch – Kellenbach

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