Genetic testing explained a lifetime of strange things happening such as constant ill health, dislocated lenses, pain and arthritis
Sean was 50 when he began to feel seriously unwell.
Throughout his life, he’d experienced a range of unexplained illnesses and had undergone several operations; but no doctor had been able to identify the underlying cause. This however, was something else.
‘I started to become breathless. I wasn’t feeling well and I could barely walk for more than 5 minutes.’
He went to his GP and after several appointments with the GP he was diagnosed with a heart murmur.
‘This diagnosis didn’t feel right to me. I was referred for an echo scan, but the date was far in advance and I was starting to feel worse and worse.’
With his symptoms worsening, Sean decided he couldn’t wait and requested to be referred to a cardiologist who assessed his symptoms and insisted he come in the next day for an angiogram. The test showed that Sean had a 7.5cm aneurysm of his aorta.
Because of the size, Sean was quickly referred to a cardiac surgeon in Brighton. They informed him that he would need a 9-hour surgery to replace his aortic root and aortic valve.
The cardiac specialists in Brighton referred Sean for genetic testing as they suspected his condition could be genetic. He was no stranger to genetics as he’d previously been diagnosed with Alpha-1 antitrypsin deficiency, an inherited condition that can affect the lungs and liver.
Sean’s genetic testing took place at his local hospital in Worthing, which meant he didn’t have to travel far for appointments.
‘The geneticist was really understanding and helpful. When she requested the bloods, she explained how it can take a long time for the results. She also asked if I would like to receive the results face to face, or over the phone.’
The results showed that Sean has a pathogenic variation in his FBN1 gene, meaning that he has Marfan Syndrome.
‘For me, genetic testing was kind of a golden bullet that explained a lifetime of strange things happening such as constant ill health, dislocated lenses, pain and arthritis.’
‘No one in my family has the condition, I’m the first to suffer.’
Marfan Syndrome is a disorder of the body’s connective tissue which can affect many areas of the body including the skeleton, eyes, and heart and blood vessels. Some people with the condition have distinct physical characteristics such as being tall and slim with long, thin arms and legs.
‘Doctors often said that I don’t look like I have Marfan’s, but it does explain so many of the symptoms I’ve had throughout my life.’
Sean is now determined to raise awareness of Marfan syndrome and ensure people know that the symptoms and signs can be variable for different people with the condition.
After his diagnosis, Sean suffered a type B aortic dissection as a result of his condition. This meant that a tear had developed in the lower part of his aorta, leading him to spend two weeks in hospital. Since then, he has been having 6-month scans to monitor his aorta.
In the New Year he will undergo an 18-hour operation to treat his aortic dissection. This will involve replacing the top part of his aorta and another operation several months later to replace the lower part.
Looking forward, Sean is keen to promote a better understanding of Marfan Syndrome and its impact on patients. He is now an active member of several charities, Aortic Dissection Awareness UK & Ireland, The Aortic Dissection Charitable Trust, Marfan Trust, and their online support groups.
‘People know very little about Marfan’s patients and the impact the condition has on them. It’s not a condition that is widely talked about or understood. I want to change that.’
