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 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!