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Looking back at 2022

One year ago the Usher Syndrome Foundation announced its reaching the milestone of 1 million euro of donations. A huge and almost magical amount of money! Thanks to the many donations, actions and events we reached this amount six years after the first start of the campaigns. This has enabled us to finance a number of scientific studies.

The special milestone of 1 million gave everyone wings. And this was shown in the year 2022!


We collected almost half a million euro of donations in one year! Thanks to all contributors and thanks to you!

Thanks to the many donations and gifts, we can finance several new (inter)national research projects.
The first 2 new studies that we will fund have already been announced at the end of December 2022. We will announce the two funded studies from the Moon Rocket Grant and another new research project in early 2023.

The start in 2022
The year started with a change in the board and expansion of the board: Diede Heijkoop took over the function of secretary from Annouk van Nunen. Johan Driessen joined the board as a member and was given the fund-raising portfolio. After a short familiarisation period the board started with the development of a Strategic Plan. Where are we now and where do we want to go? And how do we expect to get there?
We have the moonshot “A treatment for Usher Syndrome in 2025!”, but we are looking further ahead. The Stichting Ushersyndroom wants a ‘moon landing’ in 2030. After a year of interviews, away days, on-line meetings and many discussions, we are now busy developing a Strategic Plan. We will present this plan early in the year 2023.

Ivonne Bressers appointed Knight of the Order of Orange Nassau
King Willem-Alexander appointed Ivonne Bressers (56) Knight of the Order of Orange Nassau. As chairwoman and driving force behind the Stichting Ushersyndroom she is of invaluable for the Usher patients group. Mayor Marcouch presented the decoration during the rain of titles at the town hall of Arnhem.. Read more …

A visit to the researchers
The board received a progress report with respect to all ongoing studies (co-)financed by the foundation. Because of the renewal of the board and also in view of the major financial contribution that the foundation makes to scientific research, the board went to visit the researchers in the Radboudumc. The board was given a presentation and a tour for each study. Sometimes big steps are made in one year, but sometimes there also are setbacks to cope with.

Mini genes 2a: this study was patented. Researchers are talking about further cooperation with companies. Which company wants to take part in the pre-clinical phase in order to lift the study to the next level? Read more ….

Mini genes 2c: the sticking together of small coding ‘pieces’ of the gene to make a mini-gene-2c was disappointing at first, but after a few months delay and several attempts, the researcher succeeded in this! At the same time, another researcher was developing an innovative tool with which predictions can be made with the help of the computer whether a protein will or will not be functional. This made clear that the mini-genes-2c required minor adjustment. These adjustments are presently being made and will subsequently be tested. Read more …

CRUSH-study: Most CRUSH participants will be called for the very last time in the coming year. The study is heavy and burdensome for the participants. However, the analyses and results are of great value for the researchers and all people suffering from Usher Syndrome. The results will be of help in future treatments. In order to hearten the participants of the CRUSH study, they all received a small present from the foundation. The presents are handed out to the participants with each visit. Read more …

Sleep study: Many interview were held during the first year of this study. This showed that there is a clear difference between the control group and the group of people suffering from Usher Syndrome. These people had much more sleeping problems, especially with respect to sleeping on. What exactly is going on? For answering this question zebrafishes are used as animal models. We hope to know more next year. Read more …

USHIII: The ‘USHIII Initiative’ spent a large part of the past year on going through all procedures for an application with the FDA in order to be able to start the trial. Preparations are being made. The commitment of Dr Ronald Pennings and Dr Suzanne Yzer is mainly focused on the natural development study and based on data from the past that are already available in existing medical files. Read more …

Mini retinas 2a: The progress report was received. Early next year, a delegation of the board and the Medical Advisory Council will visit the LUMC where the study is conducted. This study was started at the end of last year. Read more …

Discovery of a new type of Usher Syndrome: type 4
The Radboud UMC has proven the existence of another type of Usher Syndrome. People diagnosed for type 4 are born with good hearing and eyesight, but these will both gradually decrease as the patient gets older (from the age of 17). Read more …

Global Usher Awareness Day 2022
Every year on the third Saturday of September, we celebrate ‘Global Usher Awareness Day’. On this day, which falls on the same day as the autumn equinox, the sun is directly above the equator and the day and the night have the same length. Following the autumn equinox, there will be less light every day; days get shorter and nights get longer.

Usher? So what!
Especially for the Global Usher Awareness Day the Usher Syndrome Foundation published a video podcast series with Joyce de Ruiter and Femke Krijger, in which they talk about their ‘USH-life’.

Joyce is ambassador of the Usher Syndrome Foundation, author and professional speaker. She published, among others, the book ‘Niet horen, niet zien, niet zwijgen’ (not hear, not see and not keep silent). Femke is shiatsu therapist and inspirational speaker and she recently published her book ‘De evenwichtskunstenaar’ (The balance artist). This podcast series consists of 7 episodes, each covering a new subject. Watch and listen (CC English) ….

How do they do that?
On our socials in the section ‘Hoe doen zij dat?’ (how do they do that?) random Ushers and/or their parents are asked five pressing questions. These are question that everyone can answer. The inspiring and motivating stories were put together in this on-line magazine especially for the celebration of Global Usher Awareness Day ’22. Read magazine {Dutch} …

Let USH Talk
On October 15, the Stichting Ushersyndroom organized the first edition of Let USH Talk, a series of interactive online events about (living with) Usher Syndrome. In the first edition, Dr. Ronald Pennings and Dr. Suzanne Yzer talks about the diagnosis interview together with the other guests and the online audience. Afterwards, the participants could meet and talk digitally in the online breakout rooms.

The 2nd edition is planned for February 4, with the theme “Loss & Resilience” and will include Prof. dr. Dr. Em. Manu Keirse join the chair of the day Wendelien Wouters. Joyce de Ruiter and Lotte Driessen (both live with Usher syndrome) will join the table. Read and watch (Video CC English) …

Long-awaited patients’ brochure finally available
The brochure: ‘Ushersyndroom’ (Usher Syndrome) will be available as from mid October in the webshop of the Usher Syndrome Foundation. The production of the patients’ brochure was an extensive process; from writing, selecting pictures and photos to design development. With the launch of the patients’ brochure a long-cherished wish of the foundation came true. The brochure is intended for everyone who has been diagnosed for Usher Syndrome, but in particular also for their family and social surroundings or people who are otherwise interested in Usher Syndrome. Read moren (Temporarily only available in Dutch) ….

Usher4Usher
Sometimes you want to come into contact with fellow-sufferers or parents of ‘Usher’ children. The request are diverse, from teenagers to adults and parents who sometimes also want to physically meet people. Usher4Usher mediates in these contacts. Mail to: contactgroep@ushersyndroom.nl

Tears as a source of information?
Can tears provide information that may be important for better diagnostics and monitoring in future treatments of USH1b patients?
In the pilot study “Investigating the exosome content as a novel marker for Usher syndrome 1b” Dr Irene Vazquez Dominguez, working at the Radboud UMC, will study tears. She hopes to find any indications that tears can be a source of information and may contribute to a better prediction of the development of Usher Syndrome type 1b.
This study will be financed by the Stichting Ushersyndroom with co-financing from Usher Syndrome Ireland  Read more ….

Reggeborgh supports Stichting Ushersyndroom en Radboudumc
Reggeborgh supports the 4-year study ‘Development of Exon Excision Therapy’ by Dr. Erwin van Wijk and dr. Erik de Vrieze at Radboudumc. In this research, the aim is to permanently remove specific exons in which patients have hereditary mutations from the DNA of the photoreceptors in the retina and/or the hair cells of the inner ear using the CRISPR/Cas9 gene editing technique. The aim of this strategy is, with a single treatment, to stop the deterioration of vision (and in time hopefully also of hearing) in larger groups of patients who have mutations in these exons of the USH2A gene.
An incredibly important and hopeful research!
We would like to thank Reggeborgh for making this research possible! Read more ….

Moon Rocket Grant
The Stichting Ushersyndroom presented the ‘Moon Rocket Grant’ early in the year 2020: researcher from all over the world could submit study proposals and had the chance of receiving a subsidy of € 100,000.-. The foundation made 2 x € 100,000.- available for this ‘Moon Rocket Grant’.

The foundation was able to present this Grant thanks to the many donations. The Grant was internationally appreciated and the applications included various Usher genes and Usher Syndrome types.
The foundation will announce which researchers will receive a subsidy of €100,000.- for their study proposals early in the year 2023. Read more ….

The Medical Advisory Council
Other than former years, last year was a busy year for the Medical Advisory Council. The members of the Medical Advisory Council had to assess several study proposals that the Usher Syndrome Foundation received from Uitzicht. Apart from this, the Medical Advisory Council set up the entire Moon Rocket Grant and they designed the application form. The Medical Advisory Council also studied and assessed all applications for the Moon Rocket Grant.
Willem Quite will terminate his function as member of the Medical Advisory Council by the end of this year. After 6 full years of intense involvement he will leave the Medical Advisory Council and Donna Debets will take his place.

A book, a TedTalk and interviews in newspapers and magazines
Femke Krijger wrote her first book: De Evenwichtskunstenaar (The balance artist). Joyce de Ruiter held her first TedTalk and many people suffering from Usher Syndrome were interviewed for newspapers and magazines.

Run, cycle, walk, collect returnable bottles and crotchet oven cloths
This year was filled with wonderful actions and initiatives! For example, over 100 people joined in the Run4Usher during the Zandvoort Circuit Run. Tim Schroeder made his gigantic cycling trip to Alicante and will make a gigantic cycling trip again in 2023. Wilte Jager cycled the 11-city race in 24 hours with his tandem buddy. The first edition of NL wandelt voor Usher (The Dutch walking for Usher) turned out to be a huge success. The Run4Usher during the 7 Hills Run was a feast of unity and the gallery of the many bottle deposit actions is growing steadily. On WhyDonate we see a number of other wonderful actions that were organised for the Usher Syndrome Foundation in the past year: Billie for Usher, Crosse for Josse, Tennis tournament and clinic HOT in Nieuw and also Team Lente took up a sportive challenge.

Really great actions were organised for the foundation on the action platform Support & Donate as well: The A-team took action for the Usher Syndrome Foundation and Tim van der Avoird did his most heavy sportive challenge ever.

There also were runs during the Marathon of Rotterdam  and the Wateringse Veldloopfestijn and in Breda, the 40 kilometres of the Canal Run were run by the famous ’40 of Breda’.

Social media, website and mailbox
Apart from all the above-mentioned actions, other individual actions were organised and money was donated. People knew how to reach us through website, mail or other social media channels. Thank you very much!

 

The objective of the Stichting Ushersyndroom is to finance scientific research that is to lead to a treatment that will show down, stop of even reverse the deterioration of hearing and eyesight. Apart from this, the foundation also (financially) supports the improvement of the quality of life, the growth of knowledge and information about Usher Syndrome and to enhance the contact between fellow-sufferers.

You can also donate directly to Stichting Ushersyndroom by using the QR code.

 

 

 

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.

READ MORE

For Jackson

Click on the photo to watch the film

 

A documentary made by Luca van Turnhout and Linse Chantrain

How does anyone deal with such a diagnosis? We follow Carolien, Willem and Jackson in their daily lives. Although they are daily confronted with Usher Syndrome, they live from one day to the next and try not to think of the future too much. This is not always very easy, though.

A documentary as a bachelor assignment for the applied audiovisual communication (BATAC) training of the THOMAS MORE HOGESCHOOL in Mechelen, the Netherlands/2020.

An article in connection with this mini-documentary: I have a haste for life, because of him’.

This film is spoken in Dutch and does have English subtitling.

A sense of black

The documentary ‘A sense of black’ takes its viewers along in the world of the blind artist George Kabel (1955) from Eindhoven, the Netherlands.
George is sculptor and one of the 800 Dutch people suffering from Usher Syndrome. For George this means that apart from being blind, he will become deaf as well.

The story of George Kabel is the story of overcoming a major setback and giving life a new meaning.

The film had its première in December 2018 during the Eindhoven Film Festival in the Van Abbe museum.

Script, scenario and production: Gerben Zevenbergen
With English subtitling.

 

READ MORE

Before everything will be dark tomorrow

The sisters Lotte (18) and Roos (16) both suffer from Usher Syndrome. This means that they will soon become both deaf and blind. They do not know how fast this will happen, but their eyesight and hearing already are well below the levels of other people of their age.

Still, the sisters do not prevent themselves from getting the most out of life. Roos is working hard for her final exam and Lotte is fully engaged in her course to become a photographer. They also want to do a few special things, such as seeing the Northern Light, before it is too late.

Production: Kim Smeekes

Unfortunately, this film is only available in Dutch.

Vader, Simon, Jet, moeder en zus Op 't Land naast elkaar op een bospad

Hear, see and feel

In ‘Hear, see and feel’ we see the Op ‘t Land family from Zevenhoven, the Netherlands. Daughter Jet (13) and son Simon (18) were recently told that they suffer from Usher Syndrome.

All family members live in the knowledge that both children will eventually become both deaf and blind. However, nobody knows when and how fast this will go.

This documentary was made by students of the Media, Information and Communication training at the Amsterdam University of Applied Sciences.

Automatically generated English subtitling available.

Parent prodigies

Is it possible to give a child a carefree childhood when one of the parents suffers from Usher Syndrome?  In the documentary ‘Wonderouders’ Ivonne Bressers talks with her two daughters about the impact that Usher Syndrome has on their lives.

Apart from the moving life stories, ‘Wonderouders’ particularly is about fighting spirit, resilience and hope and every story shows an unconditional connection between parent and child.

9 May 2016, MAX broadcasting, 2Doc

Unfortunately only available in Dutch.

The small world of Machteld Cossee

Lisa Blom and documentary maker Hetty Nietsch followed the life of Machteld Cossee for six years. They stayed at the home of Machteld and her family and so recorded intimate moments in their lives.
How do you live your life knowing that one day your world will be quiet and dark? The central figure in the documentary ‘The small world of Machteld Cossee’ knows that she cannot escape her fate. Still, she tries to live a normal life for as long as possible. This results in touching moments as well as frustrations and rows and moments of fear for the future.

Summary
On her seventeenth birthday, Machteld is told that she suffers from Usher Syndrome. At that time she already is hard of hearing, but she will become blind as well. This message is a great blow to the family. Still it is rarely mentioned after this. Her father is a general practitioner and finds it hard to accept that there is nothing he can do for his daughter.
Machteld herself tries to build up an as normal as possible family life with her boyfriend and not to give in to her fear. Machteld: ‘When I think of it, it literally seizes me by the throat. So then I think, what will we have for dinner this evening?’
In the film we see what Machteld sees and hears, how she scans her surroundings, how she slowly becomes an outsider in her own life. How she fights with the desire to give a meaning to her own life. Machteld’s world is small already. There always is that fear: when will my hearing and my last bit of eyesight definitely disappear, making my world as small as it will get?

The documentary was shown earlier at the Dutch Film Festival in Utrecht on Wednesday 1 October 2014.
This documentary had its première on television at NPO2 broadcast by the VARA on 9 February 2015.

*The documentary has Dutch and English subtitling

 

Yellow the world

Dario Sorgato, founder of NoisyVision, brought the #YellowTheWorld campaign to its climax.

In the documentary Sorgato explains his motivation, preparations and finishing of his adventure. His sensory impairments have influence on his daily life, but they do not prevent him from living his life to the full.

With English subtitling.

Invisible

At first sight people cannot see that Hedda de Roo (24) has an impairment. However, nothing is further from the truth. Her impairment becomes visible as soon as dusk falls.

Unfortunately, this film is only available in Dutch.