Personal stories
Here we tell the individual experiences of people who have been affected by Fabry disease. Click on each photograph to reveal their stories.
Jackie
Jackie discovered that Fabry disease ran in her family after researching a genealogy website to try and trace her father who left home when she was a child. She was delighted to discover that she had an older half-sister and a half-brother, but unfortunately also learned that her father had died eight years earlier.
During the course of her research, Jackie learned that her uncle on her father’s side had been diagnosed with Fabry disease. She also found out that her father had suffered from a history of heart problems, which can be one of the symptoms of this hereditary disease. When Jackie and her three children were subsequently tested and diagnosed with Fabry disease, she finally understood the source of the health problems that she and her children had been experiencing. She and her children had all suffered on a regular basis from pains in their hands and feet, severe stomach aches, bone aches and headaches. In Jackie’s words “It really is a very strange illness and some people are wrongly diagnosed with chronic fatigue and even hypochondria.”
Doctors had previously told Jackie that the excruciating pain that her family experienced in their hands and feet was due to growing pains and that she was just being over-protective
of her children.
Jackie considers finding out that she has Fabry disease as, 'a lucky bombshell', as had she not traced her family history, Jackie and her family may have remained undiagnosed and may have gone on to suffer more serious complications of the disease. Jackie and her family are now receiving specialist care to help manage the symptoms.