Two sides to the story

LEES ARTIKEL IN NEDERLANDS

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.”

INVESTING IN A POSSIBLE TREATMENT IS CHEAPER THAN LIVING WITH THE LIMITATIONS

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.”

INITIAL RESULTS FROM A CLINICAL STUDY IN PATIENTS ARE HIGHLY PROMISING

 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

Breaking the silence

Jo Milne had lived a whole life, severely hearing impaired from birth. Just before she turned thirty, Jo was diagnosed with Usher Syndrome, a rare genetic and progressive condition that will slowly leave her deaf and blind.

In 2014, she made the life-changing decision to undergo major surgery. She was given cochlear implants to help her hear better. Every moment of Jo’s days since the surgery has become a journey of discovery.

More than 12 million people watched the poignant video of 39-year-old Jo Milne’s cochlear implants being turned on.

Breaking the Silence is a remarkable and beautifully written memoir that will serve as an inspiration to all who read it. Varying, heartbreaking and heartwarming, it is the incredibly uplifting life story of a woman who refused to give up hope and always lives life with a smile on her face.

Watch Jo hear for the first time here: https://www.youtube.com/watch?v=IyDdVJ81Ixs

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Two generations on the big screen

Living with Usher and at the same time wanting to be a role model for others

On the International Usher Awareness Day 2021, the documentary Stilte in de Nacht [Silence in the night] had its premiere on television and after this it was shown through YouTube. This made the documentary accessible for the general public.
Lisanne van Spronsen and Milou op ten Berg, the makers of this documentary, followed Joyce de Ruiter and Nikki de Punder with their cameras for a few months.
Two generations with Usher. Both strong women who hold a positive view of life, who know what they want and who act as role models for their own generations as well. 

Sandra Vijverberg talked with both ladies to hear how they experienced their participation in this documentary.

More than a school project 
Joyce was in particular positively surprised by the professional way of working and passion of Lisanne and Milou and that it turned out to be a lot more than just a ‘school project’. Professional photos were made for the promotion and film poster and Lisanne and Milou started a crowd funding action, which enabled them to make a very nice donation to the Stichting Ushersyndroom (Dutch Usher Syndrome Foundation). The ladies did not limit themselves to making the documentary, but they also made various podcasts for Stilte in de Nacht.
As speaker and author, Joyce is used to sharing her story on stage and in her book. Accepting the presence of the camera near her made her feel vulnerable, but at the same time it was a nice thing to do.
Nikki really liked being part of it. She tells us that she does not talk a lot about Usher and about what it means to her. However, especially the approach of Lisanne and Milou made things feel very safe. “Because they managed to make me feel so comfortable, I dared to honestly answer all questions.”

On the big screen 
The question of how they felt about seeing themselves on the big screen and later on television makes Joyce laugh out loud. Terrible!”, she laughs. It really is very strange to realise that a lot of people who are completely unknown to you know about you.” Nikki thought it was very special. “It always is strange to look at yourself, in particular on a film screen of 50×25 metres!” The documentary had already been shown to the ladies when it was nearly finished, later at  the premiere in the theatre and then again recently on television. Nikki continues: “We watched the television premiere together at the home of Lisanne’s parents. My parents had also come, Joyce was present with her family and, of course, Milou was there as well. This made it feel like a kind of reunion.”

Role model for fellow-sufferers 
The ladies received really a lot of reactions to the documentary. Very nice and positive reactions, but Joyce also received a reaction from someone who has a person suffering from RP in her environment. Joyce: “She told me that his person has so much problems with this, that he or she finds it unbearable to live with the diagnosis. This was really heavy. On the other hand, it confirmed to me how important it is to have role models in fellow-sufferers. Role models who can inspire you, who can support you. Persons who inspire me personally give me a lot of strength every day again. Hopefully Nikki and I can also be that for our fellow-sufferers. To me understanding this is the best thing the documentary has brought me.”

In the spotlights 
Joyce tells us that, despite the fact that this also is a part of her work, it sometimes is quite difficult for her to always put herself in the spotlights again.
Trying to find the spotlights for the Usher Syndrome Foundation is something she does for the good cause: It gives me the confirmation and the strength that we, people suffering from Usher, have to keep shouting from the rooftops what the impact is of this disease and that more money is needed for treatment.”

Inspiring for others
Nikki received a lot of reactions through Insta from friends as well as from people unknown to her. Besides, the documentary resulted in a nice article about her in the newspaper (insert link). This article led to an invitation for the talk show ‘M’ of Margriet van de Linden (insert link) and she also visited Anky van Grunsven. This has resulted in a steady friendship.” She continues: “this is again one of the best things that participating in this documentary has brought me. Apart from this, a lot of people will by now understand why I sometimes cannot follow things, do not hear well or why I sometimes am a bit careful in the dark, for instance. The very best thing is, however, that there are people telling me that I inspire them. This never was my intention, but it certainly is very nice to hear.”

Silence in the night (Stilte in de Nacht)
The documentary Stilte in de Nacht can be watched with Dutch and English subtitling

Spanish film festival 
By now, it has become known that Stilte in de Nacht has been selected for the Spanish film festival Certamen Raras.” This special film festival is about rare diseases and health.

The jury will announce the best documentary on 15 November 2021. Also an audience prize will be presented for which can be voted from the Netherlands as well. Voting for Stilte in de Nacht can be done through via the button below. You can vote for Silence in the night via the button below.

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Read also:
Colour me blind

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Trailer Silence in the night

The documentary Silence in the night, made by Lisanne van Spronsen and Milou op ten Berg, is ready. The premiere has been postponed due to the COVID-9 measures.

The trailer can already be viewed, with subtitles.

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The world of Sander

As a result of Usher Syndrome, Sander Koomen’s world is shrinking in terms of hearing and sight loss. Sander still has big dreams and prefers to inspire others and set an example for his children.

KNGF (Royal Dutch Guide Dog Foundation) made an inspiring video of Sander and his guide dog Brigthy in collaboration with Eukanuba.

Unfortunately, this film is spoken in Dutch and does not have English subtitling.

Perseverance

Michael John shares his experiences and sorrow with a lot of humour in his charming writing style – open and honest – which makes him vulnerable for the world. Michael John shares his life story, his life with Usher Syndrome and his faith in God from his heart. The reader is transformed into his world of semidarkness and limited hearing. Perseverance’ is what life is about. South-Africa.

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A silent death

‘A silent death’ is situated in the south of Spain and it is the newest thriller of the globally best-selling author of The Lewis Trilogy, Cast Iron and Ill Keep You Safe.

Spain, 2020. When expat and fugitive Jack Cleland sees his girl-friend die, shot in a chase in which officer Cristina Sanchez Pradell is involved, he promises to take vengeance. Cristinas aunt Ana has been deafblind all her life: she has the rare disorder called Usher Syndrome. Ana is the centre of Cristinas world – and that of Clelands cruel plan.

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Usher syndrome & Pumpkin Day

Agie used to be a man. Now she has opened her heart for someone who wants to accept her as she is. However, her fate has other plans and Agie must fight for her love in the most challenging and unexpected way.

This short novel, Usher Syndrome, contains themes such as love, friendship, treason, self-identity, gender and even ultramodern gene therapy.

In Pumpkin mystery Agie tries to solve a mysterious disappearance of a gigantic pumpkin in a cave below Slown City. In the meantime, a lonely, rich man named Jake has to choose between courage and prejudice. A lost notebook brings the lives of these two people together.

Usher Syndrome’ was performed on the stage of the London Barons Court Theatre in 2010.

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Shine Brighter

‘Shine brighter’ is a book about handicap and diversity and it was written with the purpose to bring Usher Syndrome to the attention of people and to collect money for Usher Kids Australia.

In the new children’s book ‘Shine brighter’ written by Julianne Schmid, the two central figures – a star and a moon – function as symbols to teach people something about Usher Syndrome and to inspire the confidence of children who are confronted with loss of hearing and eyesight.

‘Shine brighter’ was inspired by Julianne’s own experience as mother of two young boys suffering from Usher Syndrome and the journey they have made as a family.

Julianne: “Small star represents the light that is reflected in all children. The moon is a reassuring voice for the small star that sees and hears the world in a different way.”

Walk in my shoes

‘Walk in my shoes’ is a unique collection of 28 stories of people who lose not one but two senses, being hearing and eyesight.

Instead of giving up, these people discover and embrace their inner power to conquer the major obstacles and setbacks in their own search for acceptance, equality and respect in society. Even the simplest daily activities that people regard as being self-evident, such as travelling by public transport and cooking, can be huge challenges. Still every unique story shows that most people manage to adjust themselves every time again and take up and conquer the daily challenges.

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