Two sides to the story


When your world turns dark

Joyce de Ruiter was sixteen years old when her parents had to tell her that she’d been diagnosed with Usher syndrome: an inherited dis- order which deteriorates hearing and especially vision during life, often resulting in people becoming deaf and blind. “Finally, the puzzle pieces of hearing loss and night blindness had been named, but at the same time your whole future outlook wavers.” Joyce tells us about the impact this diagnosis had on her life and how it gradually turned into something she now draws strength and courage from.

Joyce and her brother were hearing impaired from birth and started to experience initial symptoms of night blindness around puberty, which was strange, as it didn’t run in the family. A diagnosis was lacking until her then 18-year-old brother’s vision deteriorated even further and an ophthalmologist diagnosed Usher syndrome. Joyce was diagnosed with the same disorder when she was just sixteen years old, radically changing her life and future plans. “I wanted to study, work, get married, and have a family. Would that still be possible? When I discovered the study Visual Marketing the fire started burning again, even though the name of the study didn’t sound very useful when you have a visual handicap. But I always kept making choices that made me happy and I’m convinced this enables me to do the things I want to do – despite all the limitations.”

Rushing life no longer
Joyce has worked in HR, Communications, and Events. “I crossed my own limits for too long, because I felt like I had to cram a whole life into half. After my third burnout at age 30, I was declared incapacitated, also because my vision kept deteriorating. It was another one of those moments: what can I still do, what do I want? My eyes and ears didn’t work so well anymore, but there was nothing wrong with my brain.”


She decides to tell her personal story in the newspaper, on radio, and on TV as an ambassador for the Dutch Usher Syndrome Foundation, in order to underline the importance of scientific research and development of treatments. This is how the speaking profession came on her path and she has been working hard on her business for 6 years, with success: “As an independent entrepreneur, I now speak at conferences and events about change and agility. Usher constantly confronts you with problems and changes that you have to learn to deal with. I link my personal story to insights in psychology about how to develop an agile mindset. With that, I try to be of value to other people. I think that is the most meaningful thing you can do in a human life.”

Tunnel vision, literally
Joyce is now 38. Her hearing loss is 70 decibels, but with advanced hearing aids she can still function reasonably well. Her vision is greatly reduced, though. “Last year I still had 18 degrees of vision, which is less than a toilet roll I can see through. My orientation on the street is becoming more and more difficult, I haven’t been able to ride a bicycle for years and I feel unsafe in crowded environments; all because of my reduced vision. This is why scientific research is so important. Investing in a possible treatment is ultimately cheaper than living with the limitations. It would be fantastic if a treatment can be found that stops the deterioration and that children do not have to experience any hearingor sight restrictions at all. Of course, we hope that all patients with Ushers syndrome will recover.

That is why the volunteers of the Usher Syndrome Foundation are putting their heart and soul into continuing to make research into a treatment such as that at the Radboud university medical center possible.”



Bringing light to the dark

From discovering the gene to, hopefully, developing a therapy which will give patients a positive outlook. Erwin Van Wijk has been involved with Usher syndrome research from start to finish, which is quite unique in this field of work as it shows how rapidly developments are following up on each other. “In the most severe form of Usher, children are born deaf and slowly start to lose their vision before puberty. We developed a genetic patch that may be able to limit the damage to vision, our data and the results of the trials look positive.”

 “The hearing problems in Usher are not easy to treat because the underlying cause already arose during development in utero”, says Erwin. “With my research group, I have focused mainly on the visual problems. These arise during life, so there are more opportunities to do something about them at an early stage. The goal of the research was therefore to slow down or even prevent the deterioration of vision. First of all, we need to know which and how genetic defects lead to problems. Mutations in the USH2A gene are the most common, so we took that gene as the primary starting point for developing a therapy.”

Restoring the function of light-sensitive cells
Usher syndrome arises from a genetic mutation which causes the loss or malfunctioning of the corresponding protein usherin. Slowly but surely, the light-sensitive cells in the eye progressively die as a result, and people become vision impaired or at a later stage even completely blind.

The question is: How can this disease process be stopped? Erwin: “Replacing the mutated gene was technically almost impossible because the USH2A gene is extremely large. Instead, we taped the region of the gene with the mutation with a genetic patch. As a result, a slightly shorter protein is produced, lacking the mutation. When carefully selecting the region to skip, the resulting ‘shortened protein’ could work almost as well as the original protein. In principle, this would then solve the problem. In cells we saw that the genetic patch indeed masked the region of the hereditary error. Next, we had to demonstrate that the shortened protein is also functional in the eye.”

Zebrafish as part of the solution
Erwin stumbled upon an unexpected animal to establish whether the genetic patch could preserve visual function. “Zebrafish happen to have an USH2A gene and protein that’s very similar to those of humans. If a mutation is introduced into this gene, the visual function of the zebrafish is also significantly reduced. They are an excellent model for studying USH2A-related visual dysfunction and for determining the effect of a therapeutic intervention. Indeed, visual function of USH2A mutant zebrafish treated with the genetic patch was highly improved.”


 After this, the first careful steps towards the translation of the results into a use in humans could be taken. First tests in Usher patients with a mutation in the specific region of the USH2A gene showed promising outcomes, resulting in the design of a large multicenter follow-up study in which the results of the initial clinical trial will hopefully be corroborated in a large cohort of patients. If results hold up, a request for market introduction can be submitted to the American FDA and the European EMA.”

Source: PULSE Magazine #1 2022

How is Machteld Cossee doing today?

Overwhelmed with reactions
The film moved people from Machteld’s wide social circle as well as other viewers Director Hetty called the number of reactions to the documentary ‘overwhelming’. Machteld continues: ‘People around me know that I suffer from Usher, but the film zooms in on this. It shows the rough side of Usher.’ She confesses that she did not pick up the children from school herself the first four days after the broadcast. ‘When I appeared in the schoolyard again, other parents came to me. They offered their help and said they now had a better understanding of what was going on. How often was I called ‘arrogant’ or ‘a muddlehead’? I would never call myself that. The film gave people more insight.’ Hetty adds: ‘People looking at Machteld from a distance don’t have any idea how much difficulties she continuously has to overcome. I saw her on a photo with her husband Lars on the tandem in the JAN and I immediately knew that I wanted to watch at things along with her.’

The film did not only have influence on Machteld’s environment but on that of her fellow sufferers as well. ‘Six months ago, a woman I didn’t know came at my door. She stammered a bit while she was standing there and I really had no idea why she had come. Her son appeared to suffer from Usher. When she saw me walking one time, she mustered up her courage and rang at my door. In the period after that we had coffee together twice to talk about this.’ Actually, Machteld has become a kind of standard bearer. ‘Usher Syndrome Foundation received a lot of reactions after the broadcast and various young people had their “coming-out” as I call this after the film.’

Put things into perspective because of Usher
Hetty Nietsch made the film with her daughter Lisa Bom. ‘She had just finished the academy of arts. Working on a film for a few years really costs a lot of money, so we took a small camera and started to work with the two of us. The cameras became better in the course of the time.’ Lisa sometimes even slept at the home of Machteld and Lars.

Source: NPO
Text: Wieneke van Koppen
Photo: Lin Woldendorp

Run in pace, following a pacer

With a simple gymnastics band, Usher patient Ivonne Bressers (51) from Arnhem keeps direct contact with her buddy, Edith Mulder during the 7 Hills Run.
Mulder: ‘If necessary, I call “high” to let Ivonne know that she has to lift up her knees a bit higher for, for instance, a threshold. Or I call “right” or “left” when we have to go around a hole or a puddle. I love doing this. Everykilometre is exciting, but really beautiful too!’

Out of the 35,000 participants of the 7 Hills Run held on 19 November, 144 people ran in the Run4Usher team to collect money for research for the benefit of people suffering from Usher Syndrome. This hereditary disease can lead to full deafness as well as blindness. In this fourth year of their participation in the running event, the number of participants was doubled and at this moment twice as much money has been collected as well. Apart from runners without an impairment there also is a small number of people with an impairment, like Bressers.

About 1.5 metre before and after Bressers and Mulder three ‘pacers’ are running, who keep the path clear for a total of seven badly hearing and seeing runners of the Run4Usher team. Bressers: ‘I thoroughly enjoy this. Because of my impairments everything goes slowly in my life. When running, I can give myself a free rein. Besides, we enjoy each other’s company.’ Bressers fully trusts her buddy and the pacers.
‘This was my first 7 Hills Run and it went very well. Fortunately, it was only raining exactly before and after the run. One time someone was grumbling about the pacers until she saw who we were and she excused herself a thousand times.’ Bressers was very satisfied with the wonderful route along the hills.

Annouk van Nunen (41) from Leiden also ran with her permanent buddy, Leen Ooms. Ooms thinks it is great to be able to offer blind and visually impaired people this experience. ‘It is a really responsible task. People cannot see straight away that people with an impairment are running here. Especially not at a crowded event like this. The runners and their buddies are running widely and therefore have to pass widely. Sometimes we really have to elbow our way through the crowd, when necessary with a lot of noise, to clear the way for our runners.’

Four people suffering from Usher Syndrome also ran the 7 Hills Night. This was extra difficult because of their night-blindness. The disease is progressive and shows itself in a lot of variations. It often begins with being hard of hearing until night-blindness is developed in puberty and later tunnel vision. Bressers: ‘It is like she is looking through a straw. I cannot see anything outside that central point. For my hearing I now have implants, but there is no remedy yet for the blindness. I really hope more research will be done soon. The solutions may also be applicable to other eye disorders.’
The woman from Arnhem finds it hard to be forced to accept the growing loss of two senses. ‘The possibilities to compensate the one impairment with the other are decreasing as well. Still, I try to find a balance between asking for help and being independent over and over again. Fortunately, more and more actions are organised and Usher Syndrome is becoming increasingly widely known.’

Source: De Gelderlander, Nijmegen e.o.
By: Loes Wijffels
Photo: Gerard Verschooten

‘I do not see myself as a person with restrictions. I am just Jeff.’

He was born deaf. And he will be blind as well. Jeff Horsten sings a self-written song about his restrictions on YouTube. The 23 years old man from Waspik, the Netherlands, suffers from Usher Syndrome, a very rare disorder. Still, Jeff surprises the people around him with his laughter, his creativity and his optimism. ‘I want to inspire people. I do not see myself as a person with restrictions. I am just Jeff.’ The film of his song ‘Welkom in mijn wereldje’ [Welcome to my small world] has been watched thousands of times and dozens of people have shared it on Facebook. The film was put on-line a couple of weeks ago. ‘Tears’, ‘respect’ and ‘goosebumps’ are responses to the touching song.

Not alone
‘I want to show other people suffering from Usher Syndrome that they are not alone’, says Jeff. He sings the song together with singer Jorien Habing. The text is about the ‘tunnel’, as the man from Waspik experiences his life. It refers to his deafness and poor eyesight: Jeff looks through two holes of half a centimetre in diameter. ‘People usually can see 180 degrees.’ When Jeff looks at someone, he must move along his head. His eyesight is blurred: now 50 to 60 percent. Jeff will eventually become blind. With the help of his friend, Joep Rijk, Jeff had the song recorded in the Swamp studio in Raamsdonk. The idea came up in rehabilitation centre Het Loo Erf in Apeldoorn, where Jeff has spent nine months by now. He hated music for years. Just because he could not hear it. “One moment I heard Ring of Fire by Johnny Cash. I managed to listen to the rhythm. Later I started to experiment with music. I sometimes take a guitar and play a little. However, it remains difficult because I cannot listen well myself.’ Jeff has plenty of texts. He writes a lot. ‘Writing is my way of release. It provides a means to express myself. As a teenager I often picked up the pen. It was a kind of game to me. Suddenly all emotions are lost.’ Jeff’s parents think that the song is really confrontational. Father Pierre: ‘I listened to the first lines but I let the rest of the song rest for a few days.’ ‘Of course, this is not new to us, but many tears were wept in our house when we heard the song’, according to mother Marja. Jeff’s parents experience their lives as a struggle for their son. To get him to the right school, to give him the proper guidance. His poor eyesight was discovered only after seven years. ‘As a boy, Jeff often had quarrels. I was at school almost every day to stick up for Jeff. Now we know that he could not express himself. He felt misunderstood.’

Jeff often stumbled over things, he became night-blind and fell over other children while playing. Marja and Pierre later heard in the Radboud Hospital in Nijmegen that Jeff suffers from Usher Syndrome. ‘We had looked up a lot of things on the Internet. Then everything clicked. We were quite sure about it. When then things are actually confirmed, the world stops turning.’
It is hard to accept that Jeff’s restrictions are increasing. He cannot participate in things that are self-evident for other people of his age. Marja: ‘Like riding a bike or a moped. Jeff loves cars, but he will never be able to drive one.’

I am always mentally tired.
I seem to get up with an energy level of 10 percent.

‘It is putting up with things again and again’, Jeff describes the setbacks. His resilience has grown in the course of the time. ‘I give things a place and I have become more flexible. Now I can say “I cannot do it”. I have no choice. In the past, I was only surviving. Now this has been changed into living. I am living. I have switched over.’ Thanks to a cochlear implant he can follow conversations fairly well. He can also talk. His voice is not really bright, because he missed sounds in his early childhood. Jeff manages to follow an education at the Prinsentuin College in Andel and is a qualified animal carer. Jeff can enjoy things, such as Johnny Cash, films of cars on YouTube and the dog that he hopes to have soon. However, despite his humour and positivism, Jeff is struggling with his feelings. ‘I have my difficult moments. Sometimes these last for a day. Then I withdraw into myself and I want to be alone. I do not want other people to see me like this. Shit happens. Everything has its price and I have to pay mine.’ At this moment, the man from Waspik is going through the last phase of his rehabilitation. Jeff is prepared to becoming blind at Het Loo Erf. It is still uncertain when this will happen. ‘I do not notice any major changes between one day and the next. It goes in tiny little steps.’ The man from Waspik is teaching himself some practical things, such as doing the laundry, cooking, shopping or read Braille. ‘Only 10 percent is about the restriction, whereas 90 percent of the rehabilitation is about mentality. They give me self-confidence. I can do much more than I think.’ Marja: “I am surprised about how cheerful everyone is at Het Loo Erf. Its; incredible. We can learn a lot from them.’ Jeff nuances: “In our tiny world there is no place for grey, as many people experience days in their lives. We are either happy or sad.’ His tunnel vision costs really a lot of energy. ‘The greatest problem is the fatigue. I am always mentally tired. It feels like I get up with an energy level of 10 percent. When I do something for a few hours, I have to go to bed. I have to prevent getting a burnout.’ When Jeff is ready with his rehabilitation, he has to take a big step. He will go and live by himself. In the centre of Waalwijk. 100 percent independent. ‘I do not want to live under supervision. Never. My parents are helping me really a lot. They do everything.’ Jeff will probably move house next year. This will be another difficult moment for the Horsten family. ‘We are afraid of the loneliness. This is our major concern’, Marja says. Jeff: ‘I am not easily frightened. I know this will be a struggle, but I have had to fight for everything in my life. I am convinced I will manage.’ His mother endorses this: ‘It has cost a lot of energy. Still we look ahead with a positive mind. We have already struggled, struggled and struggled for 23 years …’

Watch and listen to ‘Welkom in dit wereldje’

Source: Brabants Dagblad
By: Sjoerd Marcelissen

‘Sheer happiness’: Liesbeth is becoming blind and deaf and wants to keep seeing her children

Liesbeth Beekhuis (35) suffers from Usher Syndrome and will slowly but surely become both deaf and blind. In ‘Sheer Happiness’ she is surprised with precious memories that she can save for the future.

Liesbeth is overwhelmed by emotions when she sees what Ruben Nicolai and his team have arranged for her.

Liesbeth is happily married and mother of two wonderful children of six and two years old. However, her picture of the future has been dark since the moment that she was told that she suffers from Usher Syndrome. As a result of this disease, her eyesight has been bad already for a while and this will only get worse over the years. There is a big chance that she will be both deaf and blind at a certain moment.

Her greatest fear is that she will not see her children as adults. In Sheer Happiness the new host Ruben Nicolai helps her to build up precious memories for later times. In this way, Liesbeth tries to save the important moments of her life in her memory in order to be able to retrieve them when she has completely lost her eyesight.

Ruben has a great present for Liesbeth: a team of forensic scientists has calculated what her children will look like in about twenty years. Liesbeth breaks down in tears when she sees her future. This really was fantastic television for the last week of 2016.

On Twitter people shared Liesbeth’s emotions with tissues at hand. However, some people had to get used to the hosting of Ruben Nicolai, who took over from Nance Coolen.

Source: LindaNieuws
By: Belinda Janssen

Deaf and almost blind Jeff moves and inspires with song

He was born deaf. And he will become blind as well. Jeff Horsten sings a self-written song about his restrictions on YouTube. The 23 years old man from Waspik, the Netherlands, suffers from Usher Syndrome, a very rare disorder. Still, Jeff surprises the people around him with his laughter, his creativity and his optimism. ‘I want to inspire people. I do not see myself as a person with restrictions. I am just Jeff.’

‘I want to show other people suffering from Usher Syndrome that they are not alone’

The film of his song ‘Welkom in mijn wereldje’ [Welcome to my small world] has been watched thousands of times and dozens of people have shared it on Facebook. The film was put on-line a couple of weeks ago. ‘Tears’, ‘respect’ and ‘goosebumps’ are responses to the touching song. ‘I want to show other people suffering from Usher Syndrome that they are not alone’, says Jeff.

He sings the song together with singer Jorien Habing. The text is about the ‘tunnel’, as the man from Waspik experiences his life. It refers to his deafness and poor eyesight: Jeff looks through two holes of half a centimetre in diameter. ‘People usually can see 180 degrees.’

When Jeff looks at someone, he must move along his head. His eyesight is blurred: now 50 to 60 percent. Jeff will eventually become blind. With the help of his friend, Joep Rijk, Jeff had the song recorded in the Swamp studio in Raamsdonk. The idea came up in rehabilitation centre Het Loo Erf in Apeldoorn, where Jeff has spent nine months by now.

‘It was a kind of game to me. Suddenly all emotions are lost.’

He hated music for years, just because he could not hear it. “One moment I heard Ring of Fire by Johnny Cash. I managed to listen to the rhythm. Later I started to experiment with music. I tasted it and I likes it. I sometimes take a guitar and play a little. However, it remains difficult because I cannot listen well myself.’

Jeff has plenty of texts. He writes a lot. ‘Writing is my way of release. It provides a means to express myself. As a teenager I often picked up the pen. It was a kind of game to me. Suddenly all emotions are lost.’

Source: Algemeen Dagblad

Zebrafishes hope for the future?

If you suffer from the Usher Syndrome, your eyesight increasingly deteriorates.
This cannot be prevented yet, but perhaps this will be possible in the future. Last February, a campaign was started for the development of a possible treatment for people suffering from Usher type 2a.

For many years, I was in the belief that there was no treatment for the disorder that I and my daughter suffer from. I am hard of hearing, I have a small field of vision and I know that eventually I will become completely blind. I also know that my daughter will go through exactly the same process. Then I heard at a meeting that there might be some hope after all. This happened to Maartje de Kok, campaign leader of The campaign team collects money for the development of a genetic treatment method for people suffering from Usher Syndrome. This method may stop the deterioration of the eyesight. Here the team closely works together with the MUS Foundation, a foundation that supports people suffering from Usher Syndrome and their families.

Stop deterioration
Maartje and others draw hope from the Zebrafish project, a gene-therapeutic study into the development of a treatment for people suffering from Usher type 2a (Usher 2a). ‘There is no treatment at all for Usher 2a yet’, Erwin van Wijk explains. He is project leader of the Zebrafish project and researcher at the Radboud UMC. ‘Therefore we as yet specifically focus on this type of Usher. (HIER HOUDT HET ARTIKEL OP DE WEBSITE OP) Usher Syndrome is caused by mutations in genes. A gene contains the genetic code for the production of one or more proteins. In case of Usher this involves proteins that are crucial for the functioning of the eyes and the ears. We know by now that faults (also called “mutations”) causing Usher Syndrome can be found in ten different genes.
With this research we try to achieve that, despite this deviation in the genes, a protein is still produced that remains functioning sufficiently. In this way we hope to be able to stop the deterioration of the eyesight.’

In order to accomplish this, another method is used than the ‘classic’ gene replacement therapy that researchers in the United States use for Usher type 1b. ‘The therapy for Usher 1b does not work for Usher2a’, Erwin says. ‘This is because the gene to be replaced in case of Usher 2a is so large, that this is technically impossible. We try to solve this problem by applying an alternative approach, the so-called exon-skipping method. Here the “fault” in the gene is masked (“skipped”) so the body does not include this producing a new protein. The protein of such a repaired gene is not completely perfect. It is a bit shorter and therefore it does probably not function for 100%. However, we hope that it will function sufficiently to stop the deterioration of the eyesight. We want to test the effect of this method on zebrafishes. This is because the eyesight of zebrafishes deteriorates when the Usher 2a gene has a deviation, just like with humans. This contrary to mice, for example.’

‘The story of the Zebrafish project came to me as a bombshell’, Maartje remembers. ‘For three weeks, I was just busy asking myself whether I would dare to devote myself to making this research possible. After these three weeks I though that I just had to have the courage to do so. Even if this were not for me any more, then perhaps for my daughter.’

Fight against yourself
The Usher Syndrome has a great impact on the life of Maartje. ‘I have two physical impairments that negatively strengthen each other. This is not only highly inconvenient, it also costs a lot of energy. I also have four children. I impose limits on them in the house, but at the same time I want to be a fine mother.’ Therefore Maartje is constantly fighting against herself.
When she was told that daughter Jente also suffers from Usher, she saw her life pass before here eyes. ‘Problems with choosing a study, give up sports, no more riding a bike. She will also have to go through all those painful moments and I can only guide her if I can keep dealing with this in a proper way.’ This is hard, because sometimes being deafblind is frightening, Maartje knows. ‘I have experienced a moment that I did not hear and did not see anything. I had the flue and I felt the deafblindness come over me. I was terrified.’
‘At the same time, I can better let go of the disorder since I had this experience’, Maartje continues. ‘For I am still here. I run, I write blogs, I participate in the organisation of a large campaign. Even if I can see nothing in the future, then I am still here and there are lots of possibilities.’ Nowadays, she cuts up every day in pieces. ‘My family is my mindfulness training. I always focus on one thing. When I am walking the children to the bus, then this is what I am doing. I must not dream away or take my mobile phone while I walk.’

Maartje is a member of the campaign team that will make the Usher Syndrome widely known in the coming period. ‘We particularly want to make people aware, share knowledge and collect money with happenings’, according to Maartje. The MUS Foundation will organise a national Usher day on 12 September. This day is both for people suffering from the Usher Syndrome and for parents, guides and professionals. There will be lectures as well as workshops, personal accounts and music.

The team members will also participate in Co-cycling, a pleasure ride organised by interns on 20 June. ‘Here we will certainly attract attention with our tandems and buddies’, she thinks. ‘Our image is playful, frivolous, creative and certainly not miserable. We just hope we may keep our eyesight.’

In good spirits
How big is the change that the deterioration of the eyesight can be stopped indeed? Erwin emphasises that there is still a long way to go. ‘The first experiments are very promising, but we are careful. The last thing we want is to arouse false hopes in people.’ There are still a lot of questions. ‘Does it really work for humans? Is it safe, are there no side effects?’ A lot of money is needed to find answer to these types of questions.

Maartje: ‘110.000 euros for starting up the study and 90.000 euros for setting up the database. This database is necessary for being able to explain individual differences. Just to be perfectly clear, we collect money for all people suffering from Usher Syndrome. In fact, this study may also offer perspectives for other types of Usher.’
Maartje is in good spirits that the money required will be collected. ‘Also thanks to the partners a lot can be done. We already organise events ourselves and we also want to mobilise people. Perhaps this research will be too late for our generation, but then just let’s do it for the next generation.’

What is Usher Syndrome?
Usher Syndrome is a hereditary disorder that can visit both men and women. This syndrome was in 1935 called after the Scottish ophthalmologist Charles Usher, who did extensive research into this syndrome.
People suffering from Usher Syndrome are hard or hearing or deaf on both sides from birth.
Besides, they later develop a bad eyesight as a result of Retinitis Pigmentosa (RP), an eye disorder that affects the retina. The consequences of RP mostly reveal themselves in the teenage years, but in some cases earlier. Sometimes the functioning of the organ of balance is affected as well.

Usher Syndrome comes in three different varieties: types 1, 2 and 3. People with type 1 are born deaf or very hard of hearing and they have problems with their balance. Their eyesight deteriorates already at an early age. People with type 2 are born hard of hearing and their eyesight increasingly deteriorates in their puberty or in their young adultery. Usher type 2 is the most common type. With the rare type 3 the hearing of people increasingly deteriorates, but less is known about the further development of the disease. The number of people suffering from the Usher Syndrome in the Netherlands is estimated to be 600-1000.

Source: Oogmagazine nr. 2, mei 2015
Text: Jeroen Wapenaar & Joke van der Leij

There is a chance that there will come a time that I can no longer hear or see anything


“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.’

Unreal diagnosis
“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!’

Hereditary disorder
“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.”

Renewed energy
“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:

Do you want to watch the documentary about Machteld and her family?


Bron: Margriet
interview: machteld vos. photography: bart honingh. styling and cosmetology: linda huiberts.

The world through a straw that is getting narrower all the time

Hetty Nietsch and her daughter Lisa Bom

Hetty Nietsch followed Machteld Cossee, who is slowly becoming both deaf and blind because of a disease, for six years. If I filmed her just in a normal way, people could see nothing unusual about her.’

Nietsch; ‘Even the people in the immediate surroundings of Machteld hardly realise what is really going on.’

The world of Machteld Cossee (38) is gradually getting smaller and darker. Ever since her 17th birthday she knows that she suffers from Usher Syndrome, as a result of which she slowly becomes both blind and deaf.
Hetty Nietsch (56), television journalist and documentary maker for the VARA, found Machteld in Jan magazine. ‘She was standing cheerfully on the photo with her husband on a tandem and a child on the back. This apparent happiness sharply contrasted with the accompanying article that told her sad story.’

The documentary maker was fascinated, contacted Machteld and followed her for six years. Nietsch’s daughter Lisa Bom took care of the main part of the camera work. Nietsch has made much talked-of documentaries: about the first cases of aids in the Netherlands and the role the KLM played in this and about transgender Valentijn de Hingh, whom she followed for nine years.

Nietsch’s new documentary The small world of Machteld Cossee shows how Machteld and her family try to lead an as normal life as possible. Machteld can see only little (she looks through a ‘straw’), is hard of hearing and increasingly deteriorates. Yet, she has a husband and two children and she does part-time volunteer work.

The film shows that Machteld hardly talks about her disorder, she does rather not think about it. Why did she say yes to a documentary?
‘She wanted to show her situation to the outside world. People see nothing unusual with Machteld: she talks normally and she has a bright look.
Even the people in the immediate surroundings hardly realise what is really going on with her. Her disorder is progressive: it gets worse all the time. It is almost impossible to make yourself aware every day that tomorrow you might see and hear less.’

How do you get this across as a documentary maker?
‘From the beginning, I tried to find ways in which the viewer can put him/herself in her place, for this is essential. Therefore the images in the film are sometimes shown as if looking through a small tube, so the viewer can see how limited her eyesight is. Sometimes a distorted sound is heard, so people can experience themselves how bad her hearing is. If I filmed her just in a normal way, people could see nothing unusual about her.’

Can you remain objective when you follow your central figure for such a long time?
‘In order to be objective, the sharp edges are needed. l did not want to make a sugary film. On the contrary, I wanted to show Machteld becoming angry and bursting out to her husband and children when they are making a lot of noise. To her this is a cacophony that makes her crazy, especially when she does not know where the sound is coming from. Machteld’s problem can partly not be solved, for she will not recover, but it is good to look at Machteld and to realise what her life is like.’

Auteur: Esther de Roos

‘The small world of Machteld Cossee’