A YOUNG mother who faces going nearly blind as a result of a rare form of macular degeneration has spoken of her heartbreak after it emerged that two of her three children have also inherited the disorder. 

Kelly Ephgrave, from Burntisland in Fife, was first diagnosed with Best Disease when she was eight.

She is now registered partially sighted but her eyesight will continue to deteriorate until she has no useful vision. 

She has already been forced to given up jobs as a dental nurse and an airline cabin steward, and can no longer drive. 

She is also heartbroken that her sons’ dreams of becoming pilots will now be impossible following their own diagnosis. 

Ms Ephgrave, 38, is calling for more research into macular disease, which affects over 54,000 Scots but remains poorly funded and incurable. 

It comes as Macular Awareness Week gets underway on Monday. 

Age-related macular degeneration (AMD) is the most common form, but Ms Ephgrave's is genetic and was inherited from her mother.

It affects around one to nine people in every 100,000. 
Although normally diagnosed in childhood, the onset of the disease can be unpredictable.

It was only after having her youngest son that Ms Ephgrave felt a difference in her sight. 

She said: “I have only been visually impaired for the last three years. I just started struggling with my central vision.

"I was trying to learn to knit and I couldn’t get the hang of it and other things just became more and more difficult, like cooking and making tea. 

"I went back to the doctor and at the time I was having driving lessons. But the doctor told me to stop my driving lessons and said I wouldn’t qualify for a licence with my vision.

“It has a massive impact now, because I do have sight loss. It affects nearly everything. 

“It can be something stupid like cutting yourself when you’re chopping an onion. Something that should be a really normal task can jolt your whole mood. You think ‘I should be able to do that’. 

"Just missing the bus or missing the train because you looked at your clock wrong. It’s a big emotional thing.

“I’m very open about it in front of my children and if I’m having a bad day I will tell them ‘mummy needs help’. My mum always hid it from me, so I think that’s important."

As a child, Ms Ephgrave says her condition was so rare that she was used as a case study in trainee opthalmologists' exams to test whether they could correctly diagnose it.

She and husband Oliver have three sons: Elliott, eight, Ernie, seven and four-year-old Barney.

The couple were devastated when genetic testing revealed that Elliott and Barney have both inherited Best Disease. 

Ms Ephgrave said: “They’re too young to be thinking about it but occasionally my eldest says he doesn’t think he will drive when he gets older in case his eyes get as bad as mine. It is really sad. 

“I was devastated when we found out. I could see when my eldest son was getting his eyes tested that he had it. I looked at him and thought ‘he’s got it’.

"I could tell by the way he was moving his face. He was tilting his head to see out of his peripheral vision, like I do. 

“It was heartbreaking because they all want to be pilots. Their dad’s a pilot and it’s the only job that they are definitely not going to be able to do. 

"I am trying to be realistic with them without being negative but at the same time I am shutting their dreams down."

She hopes that research will deliver a breakthrough that can halt or even cure macular degeneration, both age-related and genetic. 

US scientists are currently working towards human trials for a gene therapy which was shown to correct sight loss in dogs with the canine form of Best Disease. 

Cathy Yelf, chief executive of the Macular Society, said: “Macular disease is cruel and isolating.

"It steals your sight, your confidence, your independence, and your ability to do the things you love. 

"Day to day we hear from people about the devastating impact it has on their lives – taking away their dreams and plans for the future.

“And yet, despite its devastating impact, too little is known about its causes and for the majority of people affected there is not even a treatment, let alone a cure."