Self-employed plasterer Andrew Hill was having up to 60 seizures a week since falling from scaffolding on to a concrete floor three years before, injuring his ribs and head
After months of unexplained violent seizures, where his limbs jerked multiple times a day, Andrew Hill was desperate.
The self-employed plasterer was having up to 60 seizures a week since falling from scaffolding on to a concrete floor three years before, injuring his ribs and head.
But despite tests and scans, doctors found no brain injury or epilepsy — the most obvious causes. At one point a nurse in A&E suggested they were simply panic attacks.
‘I felt I wasn’t being believed and the symptoms were having such a massive impact I became suicidal,’ says Andrew, 44, who lives in Norwich with his partner Connie, 33, and their 11-week-old son.
One day in 2018 he stepped into the road with the intention of ending it all. He survived, but his story highlights how the uncertainty of living with an undiagnosed condition can deeply affect patients.
Yet it’s a common issue, says Professor Donal O’Donoghue, registrar of the Royal College of Physicians. An estimated one in four patients who consult their GP have unexplained symptoms, he adds.
Even relatively common conditions can take years to diagnose. For instance, it takes an average of seven years to diagnose rheumatoid arthritis, where the body’s immune system attacks the joints.
The more general the symptoms, the harder it is to confirm a condition, says Dr Aimee Brame, an intensive care consultant at Guy’s and St Thomas’ NHS Foundation Trust and a general physician at the private HCA London Bridge Hospital.
Cases to crack: Dr Michael Mosley and his team of 12 specialists
‘Take dizziness — there could be cardiac causes such as low blood pressure or heart rhythm problems, or a respiratory cause, or any number of neurological and hormonal conditions,’ she says.
The problem of living with an undiagnosed condition is the focus of an upcoming BBC2 documentary, The Diagnosis Detectives, where 12 specialists try to give patients answers.
‘Imagine if you were in chronic pain or had a life-changing illness, but no one had ever been able to give you a proper diagnosis,’ presenter Dr Michael Mosley told Good Health.
Andrew was one of those who took part in the programme. Soon after his first seizure he was having nine a day, leaving him unable to work or drive. Sometimes he had to use a wheelchair.
After the specialists discussed his case, cardiology and neurology were thought to be the most likely areas involved.
Andrew was one of those who took part in the programme. Soon after his first seizure he was having nine a day, leaving him unable to work or drive
Neurologist Dr Paul Jarman examined his case after tests for low blood pressure — a possible cause of seizures — found nothing. Dr Jarman also probed Andrew about his life before the accident.
‘Nine times out of ten, if you listen you’ll find the clues,’ says Dr Jarman. He discovered Andrew suffered a cluster of blackouts five years before his accident. He also served in the military 20 years ago and was exposed to intense stress.
Andrew was monitored for 48 hours with video telemetry which records brainwaves and physical symptoms.
‘This confirmed epilepsy was not the cause as his brainwaves were normal, whereas in a seizure there would be an electrical discharge visible,’ says Dr Jarman.
With that ruled out, he diagnosed functional neurological disorder (FND), a condition in which parts of the brain that deal with emotion affect functions in the rest of the brain. This causes physical symptoms such as seizures, limb paralysis and pain.
‘It’s a bit like the brain flicking an override switch,’ explains Dr Jarman.
‘It is very common, but it can take time to recognise — I diagnosed someone recently who had been seen by seven other specialists before.’ He believed Andrew’s experiences in the military were triggering his FND.
Following the programme, Andrew’s doctors increased the dose of antidepressant he had been taking and gave him another pill to help with his leg pain. He was referred to a specialist psychologist, and Dr Jarman is confident he will get better given time.
Andrew is delighted he finally has a diagnosis. ‘There are lots of things that have happened, both in the military and earlier, that I’ve never dealt with,’ he says. ‘Now I can deal with them and move on.’
Hayley Watson, who also appears in the series, has struggled with weight gain, acne and hair loss for 11 years.
She says she barely recognises her old skinny self in photographs from her mid-teens.
‘I was 7st at 14 and I’m now size 20 and weigh about 16st 5lb [her BMI is 38, which classes her as ‘obese’],’ says Hayley, 28, a singer-songwriter, who lives with her musician partner Jake, also 28, in Haydon Bridge, Northumberland.
Despite being vegetarian and working out three times a week, her weight has piled on.
‘I’m not greedy or lazy, I have just put on loads of weight — most of it within three years,’ says Hayley.
She went to her GP, who blamed the weight gain on antidepressants she’d taken since being bullied at school, and the Pill, prescribed when she was 12 to manage heavy periods.
By her early 20s Hayley’s hair started to thin and she began wearing a wig.
Bad, Good, Best
How to get the most out of food choices. This week: Broccoli
Bad: Creamed in soup.
Two table-spoons of double cream gives your ‘healthy’ bowl 9g or 45 per cent of your maximum daily intake of saturated fat. Plus, the broccoli is boiled longer for soup, which can deplete levels of vitamin C, which is important for immunity, and fatigue-fighting folate.
Good: Steamed.
Steaming is the best way to retain the nutrients in cooked broccoli — 100g contains 36 per cent of our daily folate needs; three-quarters of the vitamin C; and a quarter of the thiamin, which helps cells make energy. This is far lower after boiling.
Best: Raw in a nut salad.
Raw broccoli has the highest sulforaphane content, which might suppress cancer growth.
A 2015 study in Nutrition Research found the effect is greater when combined with selenium, found in Brazil nuts and almonds.
Have raw florets and almonds with a light honey mustard dressing.
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In 2018, she was referred to an endocrinologist, who ruled out a thyroid problem and polycystic ovary syndrome (PCOS), a hormone imbalance which causes weight gain and infertility.
‘I was so disappointed,’ says Hayley. ‘My life was on hold — I’d wanted to be a country singer, but I felt like it wasn’t going to happen.’ But the programme cracked the case, thanks to endocrinologist and obesity expert Dr Barbara McGowan. ‘One clue was a darkening of the skin in the folds of Hayley’s neck,’ she says.
‘This can be a sign of hormone dysfunction — particularly insulin resistance, where cells don’t respond properly to the hormone insulin. This may lead to weight gain and type 2 diabetes — but can also be a feature of PCOS,’ she explains.
As well as weight gain, PCOS can lead to hair loss, excess facial and body hair and irregular periods.
PCOS has three diagnostic criteria: excess follicles on the ovaries, raised levels of androgens (male hormones) and irregular periods.
Hayley is now on metformin to regulate blood sugar levels and help with her insulin resistance. She’s switched to the Mirena IUS contraceptive and is also taking spironolactone, which lowers male hormones to improve acne and hair growth.
As with Andrew, for Hayley, the diagnosis itself has come as a big relief. ‘Knowing there are treatments is fantastic,’ she says. ‘I can now tell people why I’m overweight and the treatments suggested will hopefully improve my symptoms and start to bring my weight down, although this may take some time.’
For those not able to tap into the expert advice of a panel of specialists, Dr Aimee Brame suggests keeping a detailed symptom diary to share with your doctor. ‘If you’re unhappy, seek a second opinion,’ she says.
The Diagnosis Detectives is on BBC2 on August 31 at 9pm
Link nguồn : https://www.dailymail.co.uk/health/article-8659677/At-know-whats-wrong-thanks-upcoming-TV-Diagnosis-Detectives.html
