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Home » Rare diseases » The GP that diagnosed her own rare tumour against the odds

Dr Kate Scoffings

GP, Cambridge

Cushing’s disease is caused by a tumour that grows on the pituitary gland and leads to the production of excess cortisol, the stress hormone.

As a GP, Dr Kate Scoffings remembers being taught the signs of Cushing’s in medical school, a rare disease that she might see only once or twice in her career. But looking in the mirror one day, she saw herself with the same description.

She says, “We had always been told that the classic Cushing’s symptoms were a round, puffy face and chest with slim arms and legs. In other words, a lemon on toothpicks.”

Noticing physical changes

As a busy mother of two with a demanding job, Kate had struggled for years with fatigue and rising blood pressure. But in 2017 when she embarked on an intensive diet and fitness regime and the weight still wouldn’t shift, she realised something was wrong.

There in the mirror, were well defined arms and legs that showed the toning of someone who regularly exercises, which made her puffy face, chest and back look out of place.

We had always been told that the classic Cushing’s symptoms were a round, puffy face and chest with slim arms and legs. In other words, a lemon on toothpicks.

Facing the unlikely possibility

Until numerous tests came back to confirm, Kate’s medical team downplayed the likelihood of her having the disease (which is a one in 200,000 chance) as did her own husband who was in the medical profession. But Kate’s hunch was right and looking back, she had all the classic signs.

Her periods had stopped around 40, yet she had not entered early menopause, there were problems with clots in her lungs, high blood pressure and achy joints. Putting these concerns down to having a busy lifestyle, they were actually created by an excess of cortisol (the stress hormone) created by a tumour in her pituitary gland which stopped the body from regulating production.

Once identified, Kate underwent an operation to remove the tumour which alleviated most of her symptoms. However, as Cushing’s causes muscle weakness near the core, there is still residual fatigue that Kate still suffers with three years later, and she takes replacement steroid tablets and has to carry an emergency injection.

Looking out for signs of Cushing’s

Kate would certainly recommend that other GPs watch for the signs. Diagnosing Cushing’s disease is vital as if it goes untreated, can carry a high mortality rate due to the impact on the cardiovascular system as well as associated co-morbidities. The signs and symptoms of Cushing’s are often looked at individually and can be masked by other common symptoms.  When they are looked at together by a GP who connects the dots, they should think about Cushing’s – despite it being rare. 

For more advice and support, please speak to your GP, or visit The Pituitary Foundation website.

This article has been commissioned and fully funded by HRA Pharma Rare Diseases. HRA Pharma Rare Diseases have reviewed the content for medical accuracy only. The narrative and views expressed are the author’s own. Any links visited from this site are not the responsibility of HRA Pharma Rare Diseases

UK/ENDO/0072 | Date of prep: February 2021

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