MEDICAL MYSTERIES
FOR most people, a trip to the GP goes something like this: Symptoms, examination and diagnosis.
But for some patients, that is not their reality.
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Instead, they live each day with an undiagnosed condition – and the agony of not knowing can leave them questioning if life is really worth living.
A condition such as endometriosis can take on average seven years to diagnose, while superstar Lady Gaga has opened up about her battle with fibromyalgia – which can also be hard to spot.
New BBC series The Diagnosis Detectives, hosted by Dr Michael Mosley, aims to help find answers with the help of 12 experts.
Here, we meet some of their patients.
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WHAT started as just small patches of eczema on his hands soon spread like wildfire around his body — and has left Neil Cobb in agony.
The 64-year-old’s skin is so itchy, he has scratched off the pigment.
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For four years he has been plagued by red, open sores — and he once collapsed unconscious and was left fighting for his life after an infection engulfed his body.
But Neil’s real torment is having no idea what is causing his pain. He is one of many people living with undiagnosed health conditions.
What makes these people’s illnesses much harder to cope with is the lack of answers — and that uncertainty can cause mental as well as physical problems.
Neil tells tomorrow night's episode of new BBC series The Diagnosis Detectives: “I’m merely existing and suffering as I exist. If no one can help me, I don’t think I will be around much longer.”
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Dr Michael Mosley, who presents the show, told The Sun the makers were inundated with people desperate for answers when creating the series.
He says: “A lot of these people have had undiagnosed conditions for years. They have been around the houses and seen several different doctors.
“You look at poor Neil and think, blimey, this has really affected his social life.”
But happily, on the show Neil DOES get a diagnosis, and successful treatment, and Dr Mosley says this was “life-changing” for him.
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He added: “This is more emotional than many of the series I have made. There were a lot of tears.”
Dr Mosley and 12 other top specialists from various different fields put their heads together to try to crack some of the most puzzling unsolved medical cases.
Their aim is to give their patients the answers they so desperately need, and have often waited years for.
'SOME PATIENTS CAN DIE FROM SKIN DISEASES'
Dr Mosley says: “Diagnosis is at the heart of everything we are taught at medical school. You start with a person’s medical history, you find out if there is any pain, where it started, and then there’s a physical examination.
“The reality is, for most people their condition is fairly obvious. But how many people are out there living without a diagnosis? I don’t know.”
The grim reality is that it is likely the hundreds who applied for the show are just the tip of the iceberg.
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Neil, originally from Missouri, US, moved to England in the 1990s to work as a mechanic at a US Air Force base in Norfolk.
He first noticed symptoms in 2016 and military doctors put it down to an allergic reaction to a chemical in cleaning fluid.
Initially, he was given a steroid cream to treat small patches of irritation on his hands. But the rash then spread “like wildfire” up his arms and across his body, and he was unable to work.
He tells the show, before his diagnosis: “I itch so intensely, I have scratched my pigment off.” Indeed, so severe is his scratching that he is left with gaping sores and widespread infection.
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Neil was recently found unconscious, his body consumed by sepsis — a deadly immune response to an infection, where the body attacks its own tissues.
He turned to the TV specialists in the hope of finding an answer.
Consultant dermatologist Dr Sharon Wong, who leads the investigation into Neil’s case, says: “Skin is the gateway to the rest of your body and in extreme cases some patients can die from skin disease. So it isn’t a superficial problem. It goes a lot deeper than that.”
Dr Wong tells viewers Neil recently had a tumour removed from his kidney, so it is possible some cancerous cells were left behind and that could be contributing to his skin problem.
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She says there could also be an underlying blood cancer such as T-cell lymphoma, which can appear on the skin in a way that mimics eczema.
Otherwise, the rash could come down to the initial diagnosis of an allergic form of eczema, which needs to be brought under control.
Dr Wong takes three skin biopsies and sends Neil for a CT scan to rule out anything related to cancer. In the meantime, she prescribes strong steroid cream and tablets, as well as a course of antibiotics.
When Neil returns to her London clinic weeks later, his condition has improved. His skin is much smoother and the flare-ups appear to finally be under control.
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His test results show no evidence of kidney cancer and there was nothing to point to T-cell lymphoma.
After four years, Dr Wong is able to give Neil the diagnosis he has craved — he does have a severe case of eczema.
Dr Wong says: “Over years, unfortunately, the hand eczema wasn’t fully contained and Neil continued to get more and more eczema in other parts of the body.
"Your skin, head totoe, is one organ, so if you’ve got an inflammatory process like eczema happening on your leg and you don’t contain it, just like a wildfire will do, it will continue to spread.”
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Given his diagnosis, and the treatment he needed, Neil has now managed to return to work.
Next up on the TV show, hoping for answers, is Katie who has been plagued by health problems since her teens.
The mum-of-three’s joints crack and pop, leaving her in constant agony — and just walking across a room can cause her heart rate to spike to 140 beats per minute, way above the healthy range of 60 to 100.
More recently, she started experiencing excruciating stomach pain and being sick, which caused her to lose a lot of weight very quickly.
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Mum-of-three Katie, 35, from Lancashire, says: “I lost 4st 7lb in 18 months. My appetite went down and down. I had tests done and it turned out that my stomach wasn’t emptying properly.”
The part-time nursing assistant had a temporary feeding tube fitted to bypass her stomach and deliver nutrients straight into her intestine.
But she continued to lose weight — and still doesn’t have any answers. She says: “If I were to go to my GP with everything that I feel in my body, I’d be there for a week’s appointment, not a ten-minute slot.
“I was a dress size 12 to 14, I felt good and confident, but now I’m heading towards half the person I was.
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“I’m still fairly young, I have a family, I want to know what the future holds.”
Examining her case, the Diagnosis Detectives tell Katie that all her different symptoms could be linked.
Dr Stephanie Barrett, a consultant rheumatologist, suggests she could have Ehlers-Danlos syndrome (EDS), which affects the connective tissues and causes very flexible joints.
Dr Barrett says it could have caused a weakening of the tissues in the stomach, and caused her blood vessels to stretch, causing Katie’s fast heartbeat.
'NEVER REALLY GOT ANYWHERE, NOW I HAVE AN ANSWER'
But this is not the only option they explore. Dr Barbara McGowan suggests Katie’s symptoms could also be a sign of a tumour in her adrenal glands.
She also notes that Katie had a neck op to remove one of the four parathyroid glands — which regulate calcium levels — when she was 17.
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The endocrinologist — specialising in hormone-related diseases — explains that the combination could point to a rare genetic disorder known as multiple endocrine neoplasia (MEN).
It can be life-limiting — and is genetic, so could potentially put Katie’s children at risk.
But after blood tests rule out MEN, Dr Barrett tells Katie she has a rare form of EDS known as hypermobile EDS.
Dr Barrett adds: “The painful symptoms you’ve been getting are to do with the tendons and muscles, which have had micro injuries over the years. So it all fits together.”
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Although happy to finally get a diagnosis, Katie says she is concerned that two of her children also have hypermobility.
The medics explain that her type of EDS does not have a gene test yet, but confirm it is hereditary.
Speaking after her appointment, Katie says: “I’ve seen umpteen different specialists and never really got anywhere — and now I finally have an answer.
“It will be a massive change for me to now be able to move forward, with just that very clear definition of what is going on.”
- The Diagnosis Detectives is on BBC2 at 9pm tomorrow night.
'Failure to diagnose'
NOT all health conditions present equally, with some typically harder to diagnose.
“ ‘Failure to diagnose’, as it is known medically, can prove upsetting and frustrating for patients,” Dr Mosley tells The Sun.
“Sometimes it is just a matter of time. The way symptoms manifest can mean the condition becomes more apparent over time. What it shows is how complicated the human body really is.
“If these conditions were straightforward, GPs would be able to find the answer easily, all the time.
“The range of possibilities can be vast, so we doctors have to narrow them down and go down some blind allies before we can get an answer.”
Almost any illness can be mis-diagnosed, but below are some common conditions that are more routinely missed.
Endometriosis
AROUND one in every ten women in the UK is plagued by endometriosis, which takes on average seven years to diagnose.
It causes agonising periods, when the tissue that lines the womb grows outside the uterus, on the ovaries or Fallopian tubes, the charity Endometriosis UK explains.
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It is often confused with other conditions which cause pain in the same area, such as ovarian cysts or irritable bowel syndrome.
Scans, blood tests and internal examinations are not a conclusive way to diagnose endometriosis.
The only way to be certain is with laparoscopy, which is when a thin tube with a light and a camera is inserted into the pelvis to check the tissue.
Fibromyalgia
THE likes of Lady Gaga and broadcaster Kirsty Young have spoken out about their battles with fibromyalgia.
It is a long-term condition that causes pain all over the body – and again, due to the lack of a specific test, it can prove difficult to diagnose.
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Symptoms can be similar to other conditions and, to get a diagnosis, certain criteria usually have to be met:
- The patient has severe pain in three to six different areas of the body, or milder pain in seven or more areas.
- Persistent symptoms for at least three months.
- No other reason for your symptoms is found.
Doctors will try to rule out conditions such as chronic fatigue syndrome, rheumatoid arthritis and multiple sclerosis before diagnosing fibromyalgia.
Multiple sclerosis
THIS is an auto-immune disease where the body attacks its own nerve cells and disrupts the communication between the brain and rest of the body.
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Most read in Fabulous
MS causes a wide range of symptoms, including problems with vision, arm or leg movement, sensation or balance.
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It can take months, sometimes even years, to diagnose, according to the MS Society, because the signs can be vague and dismissed as other symptoms of other illnesses.
There is no definitive test, so other possible causes must be ruled out first.
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