MACHTELD SUFFERS FROM THE RARE USHER SYNDROME
“Film maker Hetty Nietsch followed me for six years. She wanted to register the daily life of a person suffering from the Usher Syndrome as well as possible. I remember me saying: ‘But there is not much happening in my life. I take the children to school, I do some housekeeping and for the rest I am mainly struggling with myself.’ That was exactly what she wanted to record. Recently, the documentary was broadcast. The response I received to this was overwhelming. So many people sympathised with me. Someone wrote: ‘I am 65 years old and blessed because I can still see a bit.’ This is what keeps me going. On the other hand, I am also realistic, for I also know women of my age who can hear and see almost nothing anymore.’
“When I as about two years old, it was discovered that I was hard of hearing and I got hearing aids quite soon. The link with a poor eyesight was not made yet at that time. This aspect became clear with me only in my puberty. Initially, I noticed that my ability to see in the dark gradually deteriorated. In the beginning this was no reason to do an examination, but soon I also stumbled over or knocked against things more and more often during the day. When I was seventeen, the Usher Syndrome was diagnosed, a hereditary disorder which increasingly deteriorates hearing and eyesight. This may eventually end in total blindness and deafness.
It is really bizarre to receive such a message. I got into the room of the ophthalmologist and stepped out an hour later. I felt exactly the same and still my life had changed in one fell swoop. The diagnosis was so unreal. I was in shock. For I could not imagine what it would be like to be deaf and blind. Who can imagine this? Certainly not a child in the midst of puberty. I thought: yes, sure. Tell me another one. So I just went to school the next day as if nothing had happened.
By the way, I stayed down that year, for I became a bit careless and got an attitude of: what difference does it all make?? I did not want to talk about it, in particular not with my parents. My friends also actually did not know how to deal with this. Of course, contacts were made with patients’ associations and organisations of fellow sufferers and I talked with social workers, but I rather wanted to live as normally as possible. This was partly denial, for any form of coaching is of course a confirmation that you have an impairment.”
A bit worse all the time
“Only when I was 28 years old, my life completely changed. I was intensively coached in a rehabilitation centre for six months. Here I learned how I had to deal with audiovisual impairments in the future. Then I realised that I really had to adjust my life. Of course, my disease also played some role in my life before that time. For instance, I decided not to learn how to drive a car on my eighteenth birthday. What use is a driver’s licence when I have to hand it in again after a couple of years? The same applied to choosing a study. I really wanted to be a qualified nurse, but when the moment arrived, I realised that this was not a smart choice. In this profession I would have to be able to move well and to often have a good view of the situation. For this reason I eventually decided to go and study Human Resources Management. The problem of Usher is that physicians cannot say much about the course of the disease. It is hard to predict how fast the deterioration will go. This differs per person. In my case it happened very gradually. Because my eyesight and hearing gradually deteriorated, I adapted to the changes as they occurred. I learned to adjust myself bit by bit. That does not alter the fact that every form of deterioration confronted me with the harsh reality.
When I worked in Amsterdam after my study, I used to cycle through the city. Then the moment came when I realised that it really was no longer sensible to do this. The moment that I had to make this choice was really difficult. When is the moment to decide never to ride a bike again? I actually did not want to give up this freedom. There have been more such moments in the course of the years. This continuous process of saying farewell to things makes this disease quite difficult to cope with.
What I still can see at this moment can best be described by the image that someone sees when looking with both eyes through a straw. Those two rounds together make one image. This image is for me full-screen, so no black frames around it. It is a bit like looking through binoculars. When I concentrate on one point, I only see this round. In order to get a more complete image, I subconsciously scan the surroundings continuously. Even when I am talking with people, I often look around me, in order not to loose contact with what is happening around me.
I really consciously do not learn Braille, because I can still normally read newspapers and books as long as the words are within that round. It only takes some more time and energy. I will start learning Braille when it is really necessary, but not a minute earlier. The same holds for tactile signing (with which the hands of the receiver are placed on the hands of the signer to perceive the sign acted out). I just rather not do this.”
‘I can still run thanks to a buddy. This really helps a lot!’
“I was 26 when I met my husband Lars. My field of vision was a lot larger at that time than it is now. I had hearing aids, but for the rest there was not much to notice about me. I worked in Amsterdam and was still playing hockey. The story of my disorder did not scare him off, but I think he could not really imagine what it was like. Actually, neither could I.
I have doubted for a very long time if I wanted to have children. Not even because of the fear that they could also get this disorder, for this chance is really small. The defective gene must be transferred from both parents and the chance that Lars is also a carrier was smaller than the chance of having a child with down syndrome, just to mention something. Therefore we did not do the test.
No, my largest fear was whether I would be able to take care of a child. When I change a baby’s nappy, I cannot see what its hands are doing at that moment. Simply because I do not see the entire baby in one view.
Eventually, my disorder has never caused any big problems with respect to taking care of the children. It has never led to any dangerous situations, anyway. It did cost me a lot of energy, though. Because of Usher I have a great need of overview and control. I preferably plan things as much as possible in order to prevent any unexpected situations. Of course, this is totally impossible with a baby and I sometimes had problems with that. It was an intensive period. By now, the children are four and eight years old and things are much easier. The oldest one understands very well what is the matter with me, perhaps sometimes even too well. I will never ask him for help, but he often says of his own accord: ‘Mum, let me help you with these steps.’ This is really moving, but I will never give them the impression that they have to help me. The last thing I want is my children feeling responsible for me.”
This is our life.
“The main reason for me to cooperate in a documentary was to make the Usher Syndrome more widely known. After all, such a personal portrait is quite heavy. We have literally given people a look into our lives. Lives that do not always run smoothly, because this disorder has a huge impact on our daily existence.
Additionally, the film covers a period of my life in which I was quite through with it. In particular 2012 ad 2013 were very difficult years. During the preceding years I was mainly busy taking care of the children, but when I got some more room to breathe and time to think about myself, the struggle and the frustration emerged.
I am a person who loves to do nice things by nature, but this disease literally slows me down. When I want to spontaneously say something in a company of people, such a remark can be completely out of place, because it may turn out that I have not been able to follow the conversation well. The result is that I more and more often say nothing. I found it very hard to pick up my social life again anyway. I had a feeling that I had nothing interesting to tell. I did not work anymore and the initiatives I took in order to change this I always came up against closed doors. I did not dare to just step up to people, because I was always afraid that I would stumble over something.
I became very careful and as this is actually contrary to my true nature, this made me very insecure. There were periods in which I often thought: what can I still do? People are used to link their identities to their work and social lives, but if these are taken away, what is left of them? I did not know anymore where to get my satisfaction and this gave me an enormously negative self-image. I dared not make plans for the future for a very long time. In the film I literally say: ‘I live from one day to the next.’ Now I start to let this idea go more and more. I have to make plans, for I still have a lot of ambitions.
Fortunately, I have been able to come out of this dip of a few years ago. Now I even dare say that it may have been good to go through a period of frustration and anger. Sometimes people need to go through a heavy crisis in order to come out stronger.”
“I recently completed a training for vitality coach. With this I want to coach people in the areas of exercise, nutrition and stress management. I have experienced myself that there really is something to gain in these areas. Not only for people with an impairment, but for everyone. Besides, I want to share my experience and knowledge with fellow-sufferers. People suffering from Usher often have a tendency to mainly focus on their deterioration, on the things that they can do no longer.
My message is that there really is a lot you can do, despite this impairment. Try to be open to the possibilities. When I had to stop rowing, this was quite a blow for me. Eventually I have found a buddy to go running with. Together we follow running trainings. I follow boot camps with another regular coach. People have to make out for themselves what gives them energy. For one this will be music, for another something creative, and for me this is sports. Talking helps as well. I have been to a psychologist for two years and this has been a big help. She taught me how to deal with my emotions and with loss. I have learned to share my fears and worries more with others, so they understand how I feel.
For example, I now dare to say when I had a lousy day or when I am feeling sad. This has really improved the relationship between Lars and me. This disorder has a great impact on our relationship, especially because Lars has to receive the blow when I am through with it. By talking I can better deal with gloominess, which automatically made me think less negatively about myself. This brings quietness in our relationship.
However, thinking about the possible picture of the future with respect to my disease remains fearful. The fact that there is a chance that there will come a time that I can no longer hear or see anything remains unreal. To be honest, I do not expect this at all.
Lars always says to me: ‘This is not going to happen to you.’ This may sound like hiding my head in the sand, but what good will keep dwelling on a doom scenario bring me? I just always keep looking for the possibilities.”
‘I continuously have to say farewell to things I can do no longer, such as cycling’
The Usher Syndrome
Usher is a rare hereditary disorder which may eventually lead to both deafness and blindness. The syndrome knows three types: type I, with which people are born deaf and their eyesight slowly deteriorates, type II, (the type of Machteld) with which a person is born hard of hearing and the deterioration of the eyesight starts later than with type I, and the rare type III, with which the deterioration of hearing and eyesights starts only at a later age. The number of people suffering from Usher Syndrome in the Netherlands is estimated to be 800. There are no treatment methods at this moment. However, scientific research is done in the area of gene therapy and the results of this are very hopeful. This treatment could slow down the deterioration caused by the disease.
See for additional information: www.ushersyndroom.nl
Do you want to watch the documentary about Machteld and her family?
interview: machteld vos. photography: bart honingh. styling and cosmetology: linda huiberts.