New support group will help families adapt to LHON

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Personal experience of helping her son juggle sight loss and adolescence means Francesca Müeller understands all too well the importance of peer support.

Marius was a teenager when he developed Leber’s hereditary optic neuropathy (LHON) and the diagnosis turned his and his family’s lives upside down.

Francesca talks to us about learning to adapt, navigating youth with a long-term condition and the peer support group she is helping to establish in their home country of Germany.

Building a support network

support

Francesca with her son Marius

Marius was just 18 when he was diagnosed with LHON, a rare genetic condition that leaves sufferers partially sighted within months of onset.

With so few people registered as living with the condition in Germany, there is a lack of awareness and education among healthcare professionals and the public alike.

Francesca said: “When Marius was diagnosed, the senior physician was aware of LHON but only because he had researched it himself.

“He performed a visual field test, confirmed it was LHON, and told us that it was incurable: that there was nothing they could do.”

This devastating blow left the family alone and in the dark. But when they moved Marius’ care to the specialist Friedrich-Baur-Institut in Munich they started to learn about the condition, its treatments – and what it really meant for his future.

“We were very well taken care of in Munich. The information we received when he was first diagnosed didn’t help us at all. All it said was that Marius had LHON. They couldn’t tell us anything apart from that it’s incurable and that it’s inherited,” explained Francesca.

“In Munich, they had an answer for every question. They are always approachable, and I can call them whenever I have a question. Because they deal mainly with LHON, they know everybody by name.”

From their own experiences, the Müellers understand the importance of information, education and support. As such, they are among the founding members of a new LHON support group, which is in the process of being set up.

Francesca, Marius and the rest of the family are joining others like them to create Arbeitskreis LHON, or LHON working group, to raise awareness.

“The most important thing is that awareness of this disease is increased. Because no one is familiar with the disease, it can take a long time to be diagnosed.

“But the earlier it’s diagnosed the more that can be done,” said Francesca.

Growing up blind

Members will also offer peer support through the Friedrich-Baur-Institut by being on hand to answer questions, something the Müeller family could have benefited from themselves.

“Of course, we can’t address any medical questions, but we can discuss the main issues and offer advice. The goal is to calm people down and let them know that they are not alone,” Francesca added.

LHON, which is more common in men, is usually diagnosed between the ages of 15 and 25, just as a young person is setting out on life and asserting their independence.

When Marius, now 22, was diagnosed, he had just passed his driving test and was about to embark on the career he had been trained for, as a machinist.

LHON changed all this and Francesca admits that she found it difficult to know how to support her son through this very tough time.

She said: “Teenagers want to accept help on one hand but do a lot of things for themselves on the other. It was very, very difficult. He never talked about his problems.  An 18-year-old boy doesn’t talk about his problems.”

Marius was forced to change his career entirely and is currently undertaking a programme of integrational training, encompassing vocational training and employment, at his local Chamber of Commerce and Industry (IHK).

He is enjoying his new direction, but navigating his way there wasn’t easy – when he was looking for an office internship, he was rejected by no fewer than 50 organisations.

Francesca took matters into her own hands and wrote to the mayor to tell him people were “afraid of having to take care of a disabled person”.

“I said I found it very sad that no company was willing to take my son, who had already completed vocational training, who is articulate and speaks perfect German. He was very nice and immediately replied, saying he would take care of it,” she said.

This intervention led to the IHK offering Marius work experience, and the organisation was so impressed it is now supporting him through the training programme.

Adapting to a new future 

Marius’ career trajectory isn’t the only thing that has been adapted to his condition. He and his family have made a range of changes to ensure he can live well with LHON.

These include embracing assistive technology, such as Apple’s computer software and thinking pragmatically. Marius, for example, completed a cane training course when it was offered in case he needs the knowledge in the future.

Adaptations also extend to the home, where Marius and his brother Lukas have their own apartment within the family house.

Francesca explained: “The boys have their own floor and their own bathroom, which we have changed to be barrier free. We wanted Marius to be able to take a shower alone without needing any help – a young person doesn’t want a nurse to help him take showers, shave etc.”

But it’s not all expensive technology and building work. Simple things, like using dark cabinets because Marius can’t see very well on white backgrounds, and making sure everything is in its place, make a huge difference to everyday life.

“Before, when I came back from work and took my shoes off in the hall, I could leave them there. But this doesn’t work anymore because he would fall over them. Things have to be put roughly in the same place in the fridge so that he can find them, things like that,” Francesca explained.

She went on to say the wider world needed to adopt this kind of flexible thinking if people living with conditions like LHON are to have a better quality of life. The family has difficulty, for example, getting health insurance to pay for things that would assist Marius in the modern world.

“A big problem with health insurers is that the aids they agree to pay for are really outdated. Their list includes a screen-reading device and a magnifying glass. But a young person doesn’t need a screen-reading device to read a letter, because they do everything via email.

“This needs to change,” Francesca added.

Life after transformation

When a young person is diagnosed with a long-term condition, it transforms their future and leaves their families having to cope with the unknown. When that long-term condition is as rare as LHON, there is the added dimension of a lack of awareness and limited information.

But as Francesca and Marius’ story shows, with a little support, families can adapt to the realities of growing up with sight loss – and even help others to do the same.

To read further articles in this series please visit our Disease Spotlight: LHON channel produced by pharmaphorum in conjunction with Santhera Pharmaceuticals.