Hi °C | Lo °C As a bright and academically gifted teenager Meadhbh Cleary should have flown through her Leaving Certificate exams.
But in her late teens she began to struggle with written work. She was full of creative idea but putting them down on paper became increasingly and unbearably painful.
Despite constant pain in her hands she overcame the difficulties and embarked on third-level studies that would eventually lead her into a career as a religion and history teacher in Dublin.
But over the next few years, she noticed other changes to her hands – including swollen fingers and little cuts that took a month to heal properly.
Today, at 26, Meadhbh knows that the pain she felt during her teens was the earliest sign of Scleroderma, a very serious autoimmune disease that primarily affects the skin and internal organs.
The first obvious symptom, Raynaud's phenomenon which is sometimes associated with the much more dangerous Scleroderma, was diagnosed in 2006.
Her first winter with Raynaud's phenomenon was unbearably painful. Her hands became numb on a daily basis and the skin of her fingertips began to break down. Four years and countless blood tests later, she was diagnosed with Diffuse Cutaneous Systemic Sclerosis, or 'Scleroderma'.
Every case of Scleroderma is unique. The word means 'hard skin', and describes how the disease causes the immune system to over-produce fibroblasts containing collagen in healthy areas of the body. The result is thick, hard and shiny skin. Meadhbh can no longer close her fists and still has trouble writing.
Today, Meadhbh takes medication to improve circulation and prevent new ulcers. She also checks into hospital once a year for rigorous investigations of her organs. Down the line, she knows she may have to move on to stronger medication, especially if her lungs and kidneys become damaged, as predicted.
Next Thursday, in Dublin, Meadhbh's case will be among those discussed at a specially convened conference on rare diseases in the City Hall attended by patient advocacy groups and medics.
In the EU, a disease is defined as rare when it affects less than one in 2,000 people. An estimated 70-80 per cent of rare diseases are genetic and many appear early in life. It's been estimated that 30 per cent of children with rare diseases will die before reaching their fifth birthday.
Thursday's meeting will discuss the many challenges faced by patients with rare diseases and their families.
Medical practitioners may fail to identify symptoms, resulting in significant potential for patients to experience lengthy delays in diagnosis and often misdiagnosis.
Even with a correct diagnosis, patients and their carers may have considerable difficulty sourcing appropriate information about the condition and identifying relevant and experienced specialists.
Irish Independent
