Charcot-Marie-Tooth (CMT), which causes pain, chronic fatigue and limb deformities - leading to balance problems and falls - is thought to affect more than 20,000 people in the UK.
But warnings have been made that people are missing out on the help they need for their condition because many doctors have never heard of it.
Sue Kelly, 52, from Leeds, was diagnosed with CMT in 2010, despite showing classic symptoms of the condition since early childhood, including as high arches, hammer toes and tripping and falling.
Mrs Kelly, of Horsforth, said: “It wasn’t until my father died and CMT was listed as the secondary cause of death on his death certificate that I Googled the name and came across pictures of feet that looked just like mine.
“The information I was reading told me that I needed to see a neurologist, so I visited my GP, who had also never heard of CMT and had to Google it while I was sat in front of her.
“Getting a diagnosis after all these years was a bit of a relief.
“My CMT is gradually getting worse and is starting to affect my hands, but it is still relatively mild compared to some cases.
“My balance is poor and I struggle with steps and stairs.
“My fingers are starting to curl, I have painful spasms in my hands and feet, and my circulation is poor.”
Valerie Bradley, from Stourport on Severn, Worcestershire, was only diagnosed when she was 78 after suffering pain in her feet, ankles, knees and hips for decades.
She said: “It wasn’t until the end of 2016, when I went to see my GP again as I had constant fatigue, pain and numbness in my legs, and I was finding it increasingly difficult to grip with my hands, that I was referred to a neurologist and neurosurgeon.
“After reading my notes, testing my reflexes and giving me a full body and brain scan, it was the neurologist who eventually diagnosed me with CMT at 78 years old. When I told my GP I had CMT, he hadn’t even heard of it.”
CMT UK is raising awareness of the condition during Charcot-Marie-Tooth Awareness Month, which starts today.
The charity’s chief operating officer, Karen Butcher, said: “There are still too many medical professionals including GPs, physiotherapists, orthotists, surgeons - and even neurologists - who still don’t know what CMT is.
“It is also important for us to reach those people who think they might have the condition, but haven’t been diagnosed yet.
“Sometimes the symptoms aren’t obvious, but due to the fact that CMT affects the hands and feet, it could be they have trouble balancing, find they regularly trip or fall over and are constantly tired.”