Ivonne Bressers has appointed a knight of the Order of Oranje-Nassau.

LEES ARTIKEL IN HET NEDERLANDS

Mayor Ahmed Marcouch and Ivonne Bressers

King Willem-Alexander has appointed Ivonne Bressers (57) a knight of the Order of Oranje-Nassau. As president of the Dutch Usher syndrome Foundation and the driving force behind it, she is of inestimable value to the Usher patient group. Mayor Marcouch presented the award during the “lintjesregen” at the City Hall in Arnhem.

Ivonne Bressers has Usher syndrome. Most people with this very rare disorder are born hearing impaired or deaf and experience progressive sight and hearing loss. There are 400,000 patients worldwide, including 1,000 in the Netherlands who suffer from Usher syndrome. There is currently no treatment to stop the process of becoming deaf and blind. Ivonne’s deepest wish is that in 2025 there will be a treatment for every Usher syndrome patient.

Ambitious volunteer
From 2009 to 2015, Ivonne volunteered tirelessly and unpaid for the interests of the deafblind patient group. She participates as a volunteer in various working groups of the Eye Association OOG & OOR and makes great strides. With her project group, she managed to ensure that the second cochlear implant (an implanted hearing prosthesis) for deafblind people is fully reimbursed by health insurers. She also initiated the establishment of a national expertise center for patients with Usher syndrome within the Radboudumc. Nowadays, these patients can come here with their specific care needs.

Usher syndrome Foundation
In 2015 Ivonne starts in the campaign team of the Dutch Usher syndrome Foundation and joins as general board member in 2016. In 2019, she is appointed president of the foundation. A task she performs with enthusiasm, dedication and vigor.

From its inception until now, Ivonne, together with the efforts of volunteers for the Foundation, has managed to raise more than 1.1 million euros. The funds received are used to finance very promising scientific research, both at home and abroad, into an effective treatment for people with Usher syndrome.

The Royal Decoration is an extra stimulus for Ivonne to keep working on fulfilling her deepest wish: “in 2025 Ushersyndrome will be treatable for everyone”.

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New type of Usher Syndrome discovered: USH IV   

LEES ARTIKEL IN HET NEDERLANDS

The team of the Hearing & Genes Expert Centre of Radboudumc lately made a discovery: Usher Syndrome includes four different clinical types. The researchers, with Hedwig Velde as principal author, recently published their study and findings in the leading Human Genetics. With the identification of minor faults (mutations) in the ARSG gene and the description of a new clinical picture, they confirm the discovery of a fourth type of Usher Syndrome. 

This really is an important discovery, which gives more clarity about a number of patients with atypical Usher complaints without a genetic diagnosis. In the meantime, following the identification of ARSG as Usher gene, globally fifteen people have still been diagnosed, now that they all appear to have mutations in the ARSG gene. As it has been demonstrated that these patients have a common pattern of symptoms, this is no longer an atypical picture, but it makes up a new clinical type.       

A patient with an atypical clinical picture
Very rarely a patients visits the outpatients’ clinic showing symptoms that correspond with the clinical picture of Usher Syndrome (loss of hearing combined with retinitis pigmentosa), but which picture deviates from the familiar Usher types. This is called an atypical clinical picture. In some cases no generic cause is found in the Usher genes that are known so far. Consequentially, these patients are unfortunately sent home again without having been diagnosed (and without any clarity). 

Hedwig velde

 Hedwig Velde is researcher and doctoral candidate at the ENT section Hearing & Genes of the Radboudumc. She is studying patients who suffer from loss of hearing but who have not been genetically diagnosed. With her research team she confirmed a new Usher Syndrome type, which is caused by minor faults in the ARSG gene.  

A publication from the year 2018 written by a group of scientists in Israel described the discovery of the ARSG gene with Arylsulfatase G as a protein that might be involved with Usher Syndrome. The researchers from Israel described five persons from three families who all had the same minor fault in the ARSG gene. Such a publication may give other researchers ideas for their studies.  

Studying the DNA of several people within one family sharing the same symptoms is a big help for scientists. Hedwig Velde: “There is a big chance that all patients within the family share the same genetic cause. When outside the family that has been studied another patient is found with the same atypical clinical picture and a minor fault in the same gene, this may confirm the relation between the gene and the clinical picture. Of course, the chance of coming across this patient is really small. Usher Syndrome is very rare.”  

Until the national Expert Centre in the Radboud UMC saw a patient with this atypical clinical picture of Usher Syndrome and Hedwig Velde and other researchers in the Radboud UMC continued the study that was started by the team in Israel in 2018.    

New type now confirmed
With the publication of Hedwig Velde c.s. the researchers confirmed this new type. The researchers found minor faults in the same gene (the ARSG gene), which creates the codes for the Arylsulfatase G protein. This protein is involved in the degradation of another protein and the idea is that malfunctioning of Arylsulfatase G will lead to an adverse accumulation of the protein that normally should be destroyed. With this study the research team also demonstrated that the minor faults in the ARSG gene that have been found really result in a non-functioning protein.  

The clinical picture of the type does not fit in with the already known Usher types I, II and III. Apart from a later starting age of both the loss of hearing and the retinitis pigmentosa, the ophthalmic defects are more centrally located. This means that the vision problems with these patients rather occur in the central part of the field of vision as opposed to the other Usher types, which usually show problems in the outer part of the field of vision (the periphery). As the clinical picture is consistent with all USH IV patients, researchers of the Radboud UMC are of the opinion that this is not atypical Usher, but a new clinical type: Usher Syndrome type 4.   

Hedwig: “By publishing these findings, we as researchers hope to start up a discussion in the scientific world. Various studies may together lead to the confirmation that the findings are correct or, in some cases, rebut these findings. In case of USH IV it is the accumulation of evidence in several publications that enables us to confirm that this clinical type really is a new Usher type.”    

By now, globally several patients have been diagnosed for this Usher Syndrome type and for minor faults in the same ARSG gene. Previously, these patients used to be categorised in the group ‘diagnosis unknown with atypical Usher symptoms’.    

The course of Usher Syndrome type IV
Both the loss of hearing and the complaints related to retinitis pigmentosa start at a later age with people suffering from USH IV. Patients started to develop complaints concerning hardness of hearing between the ages of 20 and 40 and the retinitis pigmentosa between the ages of 40 and 60. Based on the audiograms of USH IV patients, the research team has been able to calculate that the loss of hearing starts about the age of 17.  

The course and the progressiveness are not necessarily milder than with the other Usher types. “We still have little insight into the course of USH IV, because only fifteen patients have been described and we therefore have to base our findings on this small group.” 

Genetic tests or not?
With this discovery the researchers of the Radboudumc have managed to fit in yet another piece of the ‘Usher puzzle’.” Thanks to this, a part of the patients with an unknown diagnosis will eventually be given clarity and this is really important to this group of patients.  

Unfortunately, there still are people for whom the Usher-related symptoms cannot be confirmed by a diagnosis. This makes genetic tests so important!    

The physicians indicate that, of course, the choice is still to be made by the patient. One patient attaches a lot of value to a confirmation by means of genetic tests, while another does not.  
Hedwig: “There are various reasons to have genetic tests done or not. An advantage of a genetic diagnosis is that with this the development of a disorder can better be predicted and that this may help the patient to adapt to the situation. Imagine that you are hard of hearing at a young age and that there is a small chance of becoming visually impaired. However, if you know that you will be visually impaired, then you had better concentrate on the kind of care that will help you both early and later in life. For instance, in this case learning sign language will not be a long-term solution for your loss of hearing, but good hearing aids may make a substantial contribution.”  

Genetic tests will also help the scientific world to get further. For example, as scientific research allows for comparing the DNA of various patients, new genetic causes can be discovered. Besides, this offers a possibility for meticulously mapping out the relation between a minor fault in a gene and the corresponding complaints.
Hedwig: “Because of this, future patients can be better informed about their diagnoses. On the other hand, it is also important for any future genetic treatments to know the exact underlying deviations in the DNA.”    

Usher Syndrome: 4 types and 11 genes involved
In 2022, type IV and the ARSG gene will be added to the list of Usher types and genes involved in the development of Usher Syndrome. So at this moment, Usher Syndrome distinguishes 4 types with 11 different genes involved. [Ed.: This evidence is not entirely conclusive for USH1J (CIB2) yet]
For all these genes scientific evidence has been provided that minor faults (mutations) in these genes will result in Usher Syndrome.    

The Knowledge Portal of the Usher Syndrome Foundation provides a complete overview of the genes with the names of the ‘protein involved’.     

Here you can read the publication of the article by Hedwig Velde c.s. in Human Genetics.  

 

Run4Usher Zandvoort breaks all records!

LEES ARTIKEL IN HET NEDERLANDS

On the 27th of March, the Run4Usher team joined almost 12.000 other runners at the start of the Zandvoort Circuit Run. This beautiful spring day set the scene for one of the first major running events of the year. The Ushers Syndrome Foundation was chosen by Rotary Zandvoort as the official charity for this edition of the Zandvoort Circuit Run. Not only adults appeared at the start; for the young participants there was also a special Kids Run. The large team of Run4Usher broke all records on this wonderful day and collected the fantastic amount of € 85.427,- !

Pole Position
From Pole Position, the 185 participants of Run4Usher started the 13th edition of this spectacular running event.  The program consisted of various courses: the 10 English Mile (16.1 km), 12 km and 4 km (One Lap) and for the youngest participants there was the special Kids Circuit Run and the Wheelers and Racerunner Race. Also Carol Brill and Debs Heffernan from Usher Syndrome Ireland had been specially flown in for a one-lap track over the circuit.

In the special tent of Run4Usher at the Paddock there was the opportunity to meet each other and share the solidarity. After the Kids Circuit Run, the young participants were treated to various activities led by a large group of volunteers, there was candy floss, face painting and costumes as well as go-kart races at the Paddock.

Rijsterbij
The rapper Rijsterbij (Martijn Rijsenbrij) gave a benefit concert, selling his CDs and donating the proceeds to Stichting Ushersyndroom. Martijn Rijsenbrij sings Dutch hip-hop with solid beats. “It’s getting dark, all the lights are going out, but I’m not going to wait for the day it gets dark, to that thought I say thunder”. Martijn has the eye disease Retinitis Pigmentosa, just like all people with Usher syndrome.

All records broken
The participation and presence of the Run4Usher team did not go unnoticed and generated a lot of attention for Ushersyndrome during the event and in the media.

The proceeds for the Ushersyndrome Foundation are a record: the runners and their supporters, the volunteers who collected at the event and the additional proceeds from LeChampion and Rotary Zandvoort together raised € 85.327,- !

A long haul
For the project group, the organisation has also been a challenging time. The team that organised this edition of Run4Usher consisted of ‘Ushers’ Machteld Cossee and Carin de Bruin and ‘Usher parents’ Daan Wijsbek, Esmé Ter Stege and Liesbeth Kenters. Machteld: “I remember that in mid 2019 the first contact was made with the Rotary Club and Le Champion. We were going to watch and gain experience at Stichting Hartekind, which had been chosen as the Charity for that year, but unfortunately the pandemic threw a spanner in the works.”
Despite this, the project group continued to make plans and recorded a promo with John Williams, a Dutch celebrity. Because you never know!
Unfortunately, the 2021 edition of the Zandvoort Circuit Run was also cancelled due to corona.

Until the end of 2021, event organisation Le Champion cautiously gave the go-ahead.
“We had to switch gears for a moment and suddenly we were back in business. It took a lot of Zoom meetings and group apps to get everything right,” say parents Daan and Esmé. “Various interviews, sending out newsletters and having to arrange all the practical matters at the last minute, it was simply top-class sport! according to Carin. The ever-calm Liesbeth thinks it has been a matter of long breath. “We did it, and we did it well”. Fortunately, the project group was able to count on the support and assistance of a huge group of volunteers for the practical help.

Record proceeds
Thanks to sponsorships from runners, the sale of merchandise and volunteers who collected during the event, they managed to raise a staggering € 65.427,- !
On 11 April last, the members of the project group received a cheque from the Rotary Zandvoort and event organisation Le Champion.
This brings the total record revenue of € 85.327,- !

Thanks to the financial support of “Stichting ter verbetering van het lot der Blinden” for the incurred expenses, the entire proceeds of Run4Usher Zandvoort Circuit Run can benefit scientific research into and treatment of Usher, in order to stop the process of becoming deaf and blind. In this way, the dot on the horizon for people with Usher syndrome is coming ever closer.

Here you can see all the photos of the Run4Usher edition Zandvoort Circuit. With many thanks to photographer Sanne ter Horst.

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Would you like to be part of the Run4Usher team? Or would you like to help organize the next Run4Usher edition during the Seven Hills Run (19 and 20 November) in Nijmegen? Then please contact us via the mail run4usher@ushersyndroom.nl