It’s wonderful to see what cooperation can achieve
Unusual diagnosis: Has the connective tissue disorder Marfan syndrome, caused by mutation in a gene for a connective tissue protein. Around 10-20 of 100,000 are diagnosed with this disorder.
“When I was 25, I went to an optician to get contact lenses, but I was referred to an eye specialist who discovered that I had lens luxation – the lens was slightly dislocated. I was soon diagnosed with Marfan syndrome, a connective tissue disorder. I had previously had various symptoms from different body parts such as joint pain, fatigue and poor vision. But I had been told that it was normal so I thought I was probably a hypochondriac.
Cardiovascular problems are common with Marfan syndrome and I was informed that I would not be able to have children because an enlargement of my aorta made it too risky. But a later ultrasound showed that the enlargement was smaller than they first had thought, so I had two children! My son was also diagnosed with Marfan syndrome, which was heavy news. You don't want your own child to suffer hardship. I myself have had operations on my eyes as well as on my abdominal aorta, because there was a risk that it would rupture. But I’m alive, and I've had the things that were wrong fixed.
I have made some lifestyle changes that have helped me. It is comforting to know that the pains that I have can be alleviated by staying active, for example by swimming.
For a while I had inflammations in my feet and couldn’t walk, and it was at this point that I joined a patient association. I was immediately sucked into patient work. Today I’m involved as a patient representative in a European reference network related to my illness. It’s wonderful to see what cooperation can achieve. I’ve had the privilege to see great progress, both in heart operations and eye operations. And it also means a brighter future for my son.”
First published in the magazine Medical Science, no 1, 2019