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Family's Despair over Rare Disease


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Family's Despair over Rare Disease

Exclusive By Benjamin Parkes

THE family of a Chippenham man who died of a rare hormonal disorder have told of the despair his illness caused before it was diagnosed.

 

An inquest held in Flax Bourton on Tuesday ruled that John Goacher, 51, of Stonelea Close, died of natural causes on May 18 last year, after having surgery at Frenchay Hospital in Bristol.

 

The operation was intended to ease the symptoms of Cushing's Disease, which included obesity, a rounded face, increased fat around the neck and thinning arms and legs.

 

Cushing's is a disorder that floods the body with the cortisol hormone. It affects 10 in every million people each year. Most people affected are between 20 and 50 years old.

 

It gave Mr Goacher high blood pressure, diabetes, muscle weakness and osteoporosis and also reduced his life expectancy to a matter of years if left untreated.

 

But it was the psychological problems set off by the disease that caused the most anxiety.

 

Before Cushing's Disease caused a raft of psychological problems, Mr Goacher was a senior reliability engineer for a top secret Government agency and used to travel to London to advise Government scientists on missile weapons.

 

His wife Linda said: "John's personality completely changed and he did some very strange and destructive things.

 

"We did not get much help or sympathy at first because we did not know that it was Cushing's.

 

"His friends and family thought he was being deliberately troublesome and it put a great deal of stress on our family and friends.

 

"He had violent episodes, smashing down doors and wrecking things, and was eventually sectioned because of his mental problems.

 

"He used to say he felt like he was in a bubble where everything he did inside it seemed to be normal but to everyone outside the bubble he appeared to be losing his mind.

 

"I did some research on the internet and discovered that Cushing's might be at the root of it and after a lot of pressure we finally got John referred."

 

Mr Goacher was eventually diagnosed with a particularly aggressive form of the debilitating disease in February last year.

 

He then had to face the stress of risky surgery to the malfunctioning pituitary gland inside Mr Goacher's skull.

 

The operation performed by consultant neurosurgeon Richard Nelson initially yielded positive results but within days Mr Goacher's health took a turn for the worst.

 

Speaking at the inquest, deputy coroner Anthony Woodburn said: "Without the operation Mr Goacher's life would have come to a distressing end quite quickly.

 

"An infection occurred in his pituitary gland after surgery which cause the massive bleeding and subsequent heart attack that led to his death.

 

"The underlying cause of this was an aggressive form of Cushing's Disease from which all the other problems stemmed."

 

Mrs Goacher said: "I can't help feeling that so much pain could have been avoided if John had been diagnosed earlier."

 

7:34am Friday 27th April 2007

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Robin---

What a heart-breaking experience for the family to have to endure---but how courageous of them to share it with others.

 

One of the passages---"He used to say he felt like he was in a bubble where everything he did inside it seemed to be normal but to everyone outside the bubble he appeared to be losing his mind." really hit me like a ton of bricks---this is the best description of something that happened to me a couple of times...

 

If and when I ever get a diagnosis, I'm sending a copy of this article to my "former" doctors, who did not and could not help me when I was most vulnerable.

 

Thanks for sharing this!

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NOT that it would help this family, per se, but my advice would be to SUE SUE SUE SUE SUE -- if only to hold his former doctors responsible for their negligence. If we keep taking a passive approach, then there will NEVER be any accountability to properly test for this disease when the symptoms are right there in front of the noses of so many prior medical professionals!

 

I am not suggesting anything I don't plan to do myself. If my own lawsuit will force this one single repro-endo practice to more aggresively test (or at least refer out) potential Cushing's patients, then it will save lives. Literally!

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This must be so devastating for his family, but I'm glad they are bringing this disease to public view. It makes me more thankful that I saw a GP who was able to put all my symptoms together & immediately referred me. This is not always the case over here.

 

Most GP's treat symptoms, they do not look for an underlying cause, that's the way it is over here, they are constantly under pressure to reduce the costs to the NHS, so any referral to a specialist has to be for a DAMNED GOOD REASON!

 

For diagnosis they look for the lowest common denominator, this goes for all diseases, the simplest illness is the one they DX. My father was DX'd with asthma at 62, he went on to have a stroke, then passed away suddenly with a heart-attack at 69. It turned out, when he was opened-up, he didn't have asthma at all, his lungs were fine, his arteries were clogged which caused his breathing difficulties, and he could have had an operation to resolve this.

 

My father-in-law died from pneumonia, because when he had a chest x-ray, they said he had a massive cancerous lung tumour which was inoperable, so didn't offer any kind of treatment. When he was opened up, there was no tumour, he also died needlessly.

 

That's just the way it is over here, it varies from region to region though, we call it the Postcode Lottery, it's difficult to see how it will ever change.

 

Melanie XXX

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Wow,

 

What a heart wrenching story. I think we all must have a double dose of empathy when we read about the trials of another cushings patient.

 

I agree that publishing the story will really help raise awareness. It also makes me even more resolved to fight and encourage others to fight diligently to get a diagnosis and treatment plan as soon as possible!!!! Time is not our friend with this disease!

 

:( Gina

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Thanks for sharing this story... although it is so sad!! :throb: Especially when we know something could have helped this man so much sooner. Thanks for sharing!! I guess even though these stories are awful to read, they spread awareness... which is exactly what we need...

 

Paige

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MK---I think things are much the same way here---the doctor's look for the obvious---and just treat the symptoms---which doesn't always save any of us money...sadly, some pay with their lives---as you've indicated.

 

Healthy people are productive people---that should be what we're aiming for...not trying to save a nickel...

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Thanks for sharing this story Robin. Kinda tugs on the ol' strings doesn't it.

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Boy Oh Boy this one scares the H- E DOUBLE TOOTHPICKS out of me, it hits so close to MY home!

 

Lisa :spudnikbackflip: I think I will wear the Xtra gear this week!

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Thanks for posting this Robin. The poor unfortunate man and his family - it is dreadful. And so very descriptive - makes you wish you could have been there for him to help.

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  • 13 years later...

Hi everybody!

I am Andy Goacher (John Goacher's eldest son)

The article itself is particularly badly written if I'm honest, so I would like to share my own account..

Dad was a kind, gentle man, incredibly gifted, logical, technical. A senior reliability engineer working rocket and missile systems... "Basically our father is a rocket scientist" me and my brother would joke..

He had been gaining weight and suffering health problems for some time before he got really ill. He ballooned a bit in his final years, but facially and in the abdomen as well as a fatty hump between the shoulders on his back. His legs and arms were always fairly normal looking..

He had a growing increasingly cantankerous in his later years, but nothing that seemed a major psychiatric cause for concern.

One day he left for work, as normal, got to work, and collapsed that day while there. He couldn't be woken up by the paramedics, and was hospitalised. When he eventually woke up, it was as if he had suffered some kind of mental breakdown. He was saying strange things, and appeared to be suffering bouts of amnesia as well as paranoia. He escaped his ward I think several times, and at one point failed to recognise my mum. I was away finishing uni at the time, so most of this is how I remember hearing it..

He came home after a short stay in hospital and appeared to make good progress with doctors still thinking it was a mental breakdown or psychotic episode.. 

Then the truly terrifying bit... As if a very slow second wave hit, he began to show signs that something was wrong. His driving became increasingly scary (yes he was deemed safe to drive) his focus was off, his logic started to go, he began to buy things impulsively, and randomly, then buy the same thing again. He was slowly going baserk. Even when I visited, I knew something was seriously wrong and I was scared of him! We were all scared of him and what he might do next! It was like living with maniac, and he was completely oblivious! He could 100% not see anything wrong with himself, he couldn't even wire a plug properly (and he was a trained electronics engineer for goodness sake!

As his wierd behaviour got slowly worse, it became apparent that certain triggers (such as my mum getting cross and saying something he didn't want to hear) would send him into a trance like state. I can only described this as altered consciousness. He would slump or fall, eyes closed, body limp. You could pinch him and get no response, lift his eyelids, slap him on the cheeks, but with no response. This would go on for minutes not seconds until you went to walk away saying something abrupt like 'OKAY WE ARE LEAVING NOW!' Just like that he would snap out of it. He would claim he was never out of it at all, and heard every word (even recounting what you had said during the episode) Of course every time the doctors visited this wouldn't happen at first, but eventually it did, and they were absolutely gobsmacked! 

He was then sectioned again and taken into psychiatric care where his behaviour continued to get more and more bizarre. He would escape from the Premesis and somehow manage to wander to the shops. We once had to drive up to help search for him.. we found him, with bags full of cracked eggs and other strange items. He grew a beard, began smoking, and continued to have frequent bouts of strange altered consciousness. The doctors were dumbfounded, which is why WE began frantically searching the internet for something, anything like it. We put all his previous symptoms in, and cushings/pituitary disorders kept coming up. The breakthrough was when my mother found a illustrations of a human with Cushing's disease along with a side and front profile of a woman with a severe case. Our mouths fell open... The diagrams were as if someone had sketched my father, and the woman looked like his identical twin!

We took this to show the doctors, and that lead to his tests, scans and eventual diagnosis.

In the end, with the right medication, we got dad back for a few months before the operation, albeit by now in poor physical health. By the time he went for his op, he could barely walk and I had to push him around in a wheelchair when I visited. He was just too weak to survive the op, and deteriorated afterwards. He died of massive nasal bleed from a major artery rupture. 

Tragically, the post op test results showed signs of his pituitary hormone levels returning to normal, but it just wasn't meant to be.

My dad's demise was just so incredibly strange (even by Cushing's disease standards) with so many questions left unanswered, and perhaps there was something else at play other than just the Cushing's?? We'll never know, and we just try as family to go on remembering him as the brilliant and gifted man he was when he was well. 

I have typed my personal account up on Father's Day week in the hopes that it may help someone else out there one day.

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Thank you so much for sharing your dad's story, Andy.  What a sad, difficult one it is. 

I know when Dr. Cushing was originally testing people for Cushing's disease, he found some of his early patients in the circus (bearded woman, etc) and other patients have been in mental wards before their diagnosis.

This disease, especially untreated, can really cause havoc in all aspects of a person's life.

I hope you and your family have been able to find some peace since the original article.

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