Four years ago my sister was diagnosed with a very rare and often misdiagnosed illness called Cushing’s Disease, which was caused by a tumour growing on her pituitary gland. The tumour caused Clair’s body to release too much of the stress hormone cortisol, so her body was constantly being pumped with dangerously high levels of steroid. As a result of this excessive amount of cortisol Clair’s body essentially started to shut down. To name a few of the symptoms (from a list of over 25 which Clair had) she was in constant pain, she very quickly gained an awful lot of weight and her mobility was in rapid decline as the steroids ate away her muscles.

Thankfully for Clair her GP strongly believed that her symptoms all pointed towards Cushing’s and she pushed hard to get an early diagnosis (despite Clair’s consultant originally dismissing it). After MRI scans, countless blood tests and other complicated tests it was discovered that Clair’s cortisol levels were 10 times what they should be due to a tumour on her pituitary gland. She was prescribed medication to the reduce the cortisol levels whilst she awaited surgery to remove the tumour. Clair underwent life-saving transpehnoidal surgery in March 2018, during which the tumour was successfully removed. 

As a result of the surgery Clair is now in remission, but her pituitary gland is currently ‘asleep’ and she has been left with another very rare condition called Addisons Disease. Clair’s body now produces so little cortisol that she cannot function without taking replacement steroids on a daily basis so as to avoid an adrenal crisis which can be potentially life threatening. In the event of her cortisol levels dropping dangerously low Clair has to inject herself and would need to be blue-lighted to hospital as a matter of urgency.

The Pituitary Foundation exists to advise and support people like Clair through the long and lonely journey towards diagnosis and offer advice in a world that knows so little about pituitary related illnesses. Clair found it a comfort to be able to phone the hotline and to speak to volunteers who had similar  experiences to her and who could offer a glimmer of light at the end of a very dark tunnel. The Foundation also has a dedicated endocrine nurse who is able to offer professional advise with regards to the tests needed, the diagnosis process and the treatments available. They have a very informative website full of literature which so clearly explains medical conditions that the vast majority of doctors have never seen or had to treat before and they too would often consult the Pituitary Foundation for advice (Clair was in fact the first patient with Cushing’s that her consultant had ever had to treat). One more vital thing the Foundation provides is a network of support groups up and down the country, which is essential in helping people to come to terms with such a life-changing and debilitating disease that so few people have ever heard of, let alone know anything about.

Please support me as I run the Guernsey Marathon on 3rd April to raise money for this amazing, supportive and informative charity which has proven to be and still is a life-line to Clair and many others who are having to come to terms with living with such rare diseases.