A Sutton mum whose knees have been dislocating three times a week since she was 11 has told how, after taking 25 years to get a diagnosis, she discovered she had a genetic condition and now fears she will pass it on to her daughter.
Leah Johnson, 40, suffers from Ehlers-Danlos syndromes (EDS), a group of 13 individual genetic conditions affecting the body’s connective tissue, which since she reached her late teens has also caused bladder weakness and gynaecological problems.
Now the client coordinator for an occupational health company, Leah, who is also a single mum, fears her daughter, Megan, 13, could be at risk of developing it, saying: “It breaks my heart to think that she might be afflicted with the same problems I have had to live with.
“There is still such a lack of understanding about EDS and very little that can be done for people who suffer with it.”
Weakened ligaments and tendons mean that Leah rarely goes for more than a few days without one of her knees popping out of its socket - which would mean a visit to hospital for most people, but which she has learned to “fix” by sliding it back into the joint.
Leah, whose knees usually dislocate sideways, explained: “It can happen at any time really, when I’m just doing mundane things, but more often than not when I’m going up or down stairs.
“Dislocations, especially in the knee, are normally excruciatingly painful and over the years I have had to develop a very high pain threshold.”
Despite saying she has become “immunised” to the agony, Leah feels the condition has robbed her of a social life and held back her career ambitions.
Only able to work three days a week because EDS is so exhausting, she said: “It is so draining having these pretty traumatic dislocations so frequently, that it makes it almost impossible trying to hold down a job, look after my daughter and have an active social life.
“But, because it is an invisible disability, people quite often give me abuse and say that there’s nothing wrong with me, I’m just lazy.”
To her knowledge, no other relatives have been diagnosed with EDS - which is often passed down through families.
However, Leah is concerned that Megan may develop it, as she is “hypermobile” - meaning her joints are more flexible than other people’s - a common symptom and early warning sign of the condition, according to the NHS.
Leah said: “Megan has very flexible wrists, which worries me, as it can be a sign and there’s a chance that the EDS has been passed down, which we need to start investigating.”
As a child, Leah was a “sports-obsessive” who loved playing netball and tennis, before one day during a PE lesson aged 11, when her left knee came out of its socket.
Rushed to hospital to have it put back in place, doctors at first assumed that it was just a freak accident.
Then, a week later, again during a session in the school gym, her other knee came out of place.
Leah, who up until then had played tennis for her county, recalled: “After a few trips to hospital with the same thing, doctors realised that this was something more serious and it was decided that I should wear plaster casts on my legs to stabilise them for two years.
“As someone who was obsessed with playing sport and dancing, this was a massive blow because my life revolved around being able to go out and exercise with my friends.”
Stubborn and headstrong, she refused to let her weak knees stop her from being active and every time her casts were removed, she would immediately head to the netball or tennis court - only for her joints to pop out again within a matter of days.
Unsure of a specific diagnosis but believing the young patient suffered from unstable joints, doctors operated on her six times during her teens to try to stabilise the joint using screws.
The gruelling treatment, which included having surgery to remove her kneecap and turn it upside down, at least prevented her knees from dislocating for a few years.
But by her early 20s, the problem had returned and was dogging her even more than before.
Leah said: “As I got older and started working, it became much more difficult than when I was a child, as they would start popping out when I was in the office.
“And whereas most people could go to work and then go out in the evening or go shopping, I would be so tired at the end of each day that all I wanted to do was go to bed.
“Really, it crippled my social life.”
Soon, when she reached her mid-20s other medical problems began to present themselves, such as poor bladder control and gynaecological problems, which she did not initially connect with her weak knees.
But in 2015, when a friend mentioned that her symptoms sounded like EDS, she suggested it to her doctor and was referred to a geneticist at Nottingham City Hospital who confirmed that she did indeed have the debilitating syndrome.
And though the diagnosis came as a relief, Leah, whose bladder and gynaecological problems are caused by the same tissue weakness that destabilises her knees, was disappointed to be told that there was very little that could be done for her.
She said: “After so long of being kept in the dark, I was very pleased to be told that it was EDS.
“And though there isn’t much they can do, I’m pretty determined to lead as normal a life as possible and I’m reluctant to use a wheelchair or crutches.”
Leah continued: “One of the worst aspects is the fact that Megan could develop it.
“As for me, I feel I am slowly getting weaker, and though it is much better when I was a child and first started showing symptoms, the medical world is still not very clear about how to treat it.
“All you can do is not be cowed by it and live your life to best of your abilities.”