Josh interviewing Professor Maria Bitner-Glindzicz

Deafblind Awareness Week 25th June – 1st July 2018

The Big Interview – 9 year old Josh puts Professor Maria Bitner-Glindzicz through her paces about the hearing loss research

This interview was for SPARKS who fund pioneering child health research.

Josh interviewing Professor Maria Bitner-GlindziczJosh was born blind and was diagnosed with Norrie disease when he was one month old. Now nine years old, he interviews Professor Maria Bitner-Glindzicz, who is carrying out research to prevent the hearing loss also caused by the condition.

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How do you explain Norrie disease to someone who hasn’t heard of it before?

Norrie is a rare problem which means a boy is blind when he is born; he may also gradually lose some of his hearing when he grows up.

We know that children with Norrie have a change in their DNA – the special instructions inside every part of every single person’s body. Our DNA is what makes you, you, and what makes me, me. Each body’s instructions are unique, because every person is unique. But a lot of our DNA is the same because our bodies should work in a very similar way. A section of DNA that gives our body a particular instruction is called a gene. Children with Norrie disease have a ‘spelling mistake’ in one of their genes, which means one of the instructions is muddled up. That means their eyes don’t develop normally. It can have other effects on the body, too.

There are only about 30 people in the UK who have Norrie disease, although we think there are probably more who just haven’t yet been diagnosed.

Why is it mainly boys that have Norrie disease?

This is all down to genetic differences between men and women.

Women have two copies of the Norrie gene, so if one of the copies carries the spelling mistake, there’s usually another healthy copy to make up for it. Men only have one copy of the gene, so if there’s a mistake, it can cause Norrie disease.

Mothers who carry Norrie disease have a 50% chance of passing the disease onto any son they have, and each of their daughters has a 50% chance of being a carrier of the condition.

Very rarely, Norrie disease can happen simply because of a spontaneous mistake in the person’s DNA.

How are you helping boys affected by Norrie disease?

My team and I are trying to look at why boys with Norrie disease lose their hearing and trying to stop this from happening.

We want to develop a treatment to slow down or stop the gradual hearing problems these children can have. If we can do this, I’m sure you’d agree Josh, it’d make a huge difference to children with Norrie. It could help them to live more independent lives, communicate more easily, and to interact more fully with the world around them.

Our aim is to work out which cells in the body need a ‘correct’ version of the gene to develop normally. With this knowledge, we can use an amazing technique – known as gene therapy – to replace the gene which is not working with a healthy copy, correcting the mistake and allowing the child’s inner ear to carry on working normally.

I also sit on the Scientific Medical Advisory Board for the Norrie Disease Foundation, which your mum helped to set up!

How long will it take?

It’s very hard to give a definitive answer to how long it will take for us to achieve this. Of course, we’d like to do it as quickly as possible to help children like you who have Norrie, but we need to make sure that we do the best research possible. It is important that we find out which cells in the ear need the gene and to make sure we can get it to the right place at the right time, and, most importantly, not to cause any further problems.

It takes times to test our ideas in the laboratory, to make sure the treatments we develop work and are totally safe.

Do you ever know before a baby is born if they have Norrie disease?

Sometimes we can diagnose Norrie disease before a child is born, but usually it happens afterwards, once they’ve arrived into the world.

Doctors can examine a newborn baby’s eyesight and carry out genetic tests to confirm that they have Norrie disease.

Do you like music?

Yes I love music although I can’t write music or play any instrument. The other members of my family are very musical though and can play instruments.

What do you think it’s like to be blind and deaf?

I think it’s very hard to fully understand what it would be like to be both blind and deaf. I see children like you playing, having fun and enjoying themselves proving that you don’t need your sight to live a full life. But I know it can be very difficult and scary for you sometimes, too. I can only imagine how it would feel for someone who can’t see, if their hearing started to deteriorate, too.

My husband’s father became deaf and blind, and although he manages really well, I know he would love to be able to hear better and listen to music and talk to people more easily.

If you can’t see, hearing is the sense that you rely on more heavily than other people for things like communication, but it also lets you enjoy things like music, which I know you love.

I’m constantly inspired and humbled by children like you, and your families, who deal with these situations in such a courageous way.

Why did you want to do this research?

My main interest lies in the genetic causes of deafness in children and adults.

Because hearing loss caused by Norrie disease is gradual, I believe that we have the chance to develop a treatment and slow down hearing loss or prevent it altogether.

Your Mum contacted me and persuaded me that Norrie is a really important condition that needs more research to stop hearing loss. If we could do this, it could have an incredible impact on the lives of children and their families.

To be able to help prevent the loss of a second sense in children with Norrie, who are often dealing with other symptoms too, would be fantastic.

Why is it important for Sparks to fund research like this?

Research in this area is really important, because I believe that this is potentially a curable problem. I think we can make a real difference here and funding from Sparks is helping us to do this. The quicker we can do research means the quicker potential treatments can be found and offered to patients. That would mean children like you could continue to enjoy your favourite things, like music, for longer.

The money we receive from Sparks is going towards research that we hope will make a big difference. For families where the future is uncertain, to know that research is actually happening is very important.

One of my favourite games to play with my sister, Chloe, is hide and seek. What’s your favourite game to play?

My favourite game is Twenty Questions. I try and think of the hardest thing for someone else to guess what I’m thinking of. It’s great for boring journeys!

Norrie families meeting at Southbank

NDF’s 4th Family Day

Norrie boys at Southbank

8 members of our Norrie community ranging from 14 months upwards.

On Saturday 24th February the Norrie Disease Foundation enjoyed its 4th Family Day. It was a great way to have an early celebration for Rare Disease Day which took place on February 28th.

Families came together at London’s Southbank and it was fantastic to welcome back families we had met before and new families. The day flew by with much laughter, conversation, even some poetry and exchanging of experiences and life stories – everything so precious about bringing a rare disease community together.

Thank you so much to the families that could make the trek and staff from GOSH and the Greenwich Sensory Team who came to say hello.

We really missed the families who couldn’t make it but we are looking forward our next meet up already and especially looking forward to being able to sponsor some family days in 2019.

Simon Reeve becomes NDF first Ambassador

Simon ReeveNDF is so happy to share the news that author and presenter, Simon Reeve, has become their first Ambassador. Simon worked on the Big Life Fix with Josh, who has Norrie disease, where he to got understand the difficulties that visually impaired children experience in everyday life. Please follow the link below for more information.

 

PRESS RELEASE

Norrie Disease Foundation announces first Ambassador

The Norrie Disease Foundation (NDF) has recruited Simon Reeve as its first Ambassador to help raise awareness of the rare disease which results in male children being born severely visually impaired.

While presenting The Big Life Fix for BBC Children in Need, Simon Reeve met Josh who has Norrie Disease and was born blind and heard first-hand how difficult Josh finds it to cope with the school playground. The ‘fix’ was an especially adapted play facility that incorporated guidance paving or ‘braille for feet’ that gave Josh the confidence to play with other children.

Norrie disease mainly affects boys and is a rare X-linked genetic condition that causes blindness or severe sight impairment at birth. A secondary symptom that can begin in early childhood is the loss of hearing, with hearing aids or implants prescribed over time. Other symptoms can include autism, cognitive impairment and delayed development.

With Simon Reeve’s support, the charity hopes to raise awareness of the challenges faced by children with Norrie disease and highlight the important role play facilities have on ensuring visually impaired children are able to socialise with their peers.

Simon Reeve, Norrie Disease Foundation Ambassador said: “Meeting Josh through The Big Life Fix drove home how difficult life is for children affected by Norrie disease. There are huge obstacles in the way of many of those everyday things we take for granted for our children. Having an organisation like the Norrie Disease Foundation to raise awareness of these challenges and to provide vital support can make all the difference to the children and families affected. I’m happy to be able to support a worthwhile charity.”

Wendy Horrobin, Chair of the NDF and mother to Josh, age 8 with Norrie disease, said: “We are delighted Simon agreed to become an Ambassador. Simon will be instrumental in helping us to promote the charity and be there to support more families affected by Norrie disease.”

Set up to support the UK community affected by Norrie disease and to secure research funding, the charity has already been successful in applying for a research grant into the Norrie hearing loss from Newlife and from Sparks, The Children’s Medical Charity.

The charity was launched with funding from Jeans for Genes Day.

To volunteer, donate or simply find out more, contact www.norriedisease.org.uk

 

 

Investigating Norrin in the Laboratory

November’s Norrie Disease Research Update at UCL GOSH

by Dale Bryant, 30th November 2017.

Norrie disease is caused by mutations in the NDP gene. The NDP gene provides the instructions for making a protein called Norrin. When there is a problem with these instructions, Norrin is not made correctly so it is unable to carry out its job. To monitor Norrin in the laboratory, we use antibodies that have been specifically made to bind to Norrin. With additional tools we are able to observe these antibodies and use this information to investigate Norrin protein.

This month, we have been testing different antibodies to see which one is best at detecting Norrin in our samples. This is because some antibodies are better than others and we want to use the best one in our experiments. Certain antibodies also require specific conditions to be effective. Therefore, we have also tried different methods to see which one provides the clearest results.

We will use the observations of these studies to monitor Norrin in future experiments. Each genetic mutation that causes Norrie disease may disrupt the instructions for making Norrin in its own way. Therefore, understanding how the Norrin protein has been disrupted by these mutations is an important part of many experiments that we do.

Diagram of the antibodies that bind to the Norrin protein

Wendy receiving her certificate for completing Findacure’s Peer Mentoring programme

Celebrating ​​our journey on Findacure’s Peer Mentoring Programme

The NDF were thrilled to be offered a place on Findacure’s year-long Peer Mentoring Programme to help get us off the ground. We started the Peer Mentoring in September 2016 and have just attended the Closing event in September 2017. We thought it was time to share our journey so far with you all and no better way to do it than to celebrate our time on Findacure’s Peer Mentoring Programme.
Here’s a short a presentation of our journey since the beginning:
We are really thankful to Findaure and our mentor Dr Kamlesh Sheth for the amazing experience we have had during this year – we have learnt so much and come so far!
Findacure
The Find a cure logo
Kamlesh

Dr Kamlesh Sheth

Wendy receiving her peer mentoring certificate

Wendy Horrobin and Dr Rick Thompson

Participants at the peer mentoring closing event