My poor eyesight led to a disease that only affects one in 5,000

At the tender age of three, Joan Murugi was diagnosed with a rare condition that would change her life completely. And forever.

She was a normal child who went to school like her age mates. But unlike them, she refused to make friends and would not talk to her teachers. 

“No one knew that I was short-sighted since I was a normal child. However, when I went to school, my nursery school teacher noticed that I exhibited a weird behavior - I could not socialise with my classmates or the teachers. After many check-ups, I was diagnosed with an eye problem,” she recalls.

Her eye problem was the first symptom of the Marfan syndrome, a rare condition that affects one in 5,000 to one in 10,000 people. 

“This was a big shock to my parents as it was a relatively unknown condition,” Murugi says.

Marfan syndrome, also called MFS, is a genetic disorder that affects the body’s connective tissue. The connective tissue holds all the body cells organs and other tissue. It is also crucial in helping the body grow and develop properly

Connective tissue is made up of proteins. The protein that plays parole in MFS is called Fibrillin-1. Features of the disorder are most often found in the heart, blood vessels, bones, joints and eyes.

Persons with MFS are very tall and thin with disproportionately long legs, arms, fingers and toes. They have curved spines and weak joints that are easily dislocated and which deter them from doing strenuous exercises. People with this condition also have long faces, myopia, lens subluxation (partial dislocation) and elongated or abnormal heart valves among others.

Other common features of people with MFS are aortic enlargement, a heart condition that can be life threatening especially when not diagnosed early. In some cases, the lungs, skin and nerves may also be affected.

“Because, I have to live with it, I decided to understand it properly - I have researched extensively about this condition. MFS does not affect intelligence. It is a variable expression which simply means that symptoms and their degree of effects varies from person to person. It doesn’t choose race, gender or ethnicity,” Murigu, now aged 20, says.

Syndrome has no cure

“Symptomatic treatment can, however, be done to correct some of its features. These may include glasses or contact lenses for nearsightedness or aortic surgery,” she says. 

About 75 per cent of MFS cases are inherited from a parent suffering from this condition, while 25 per cent are a new mutation.

“None of my other family members have any history with Marfan syndrome. I am the first one to get it. In short, I am a novo mutant of Marfan syndrome in our family,” Murigu, a student at Kenyatta University pursuing a degree in psychology, says.

She is short sighted because her lenses are dislocated. 

According to Cliff Oanda, a clinical ophthalmologist, eye problems stemming from MFS occur in 50-80 per cent of cases. This condition is the result of the dislocation or displacement of the natural crystalline lens.

“They often complain of fluctuating blurred vision and pain among others. Patients also develop cataracts several decades earlier compared to unaffected individuals,” Oanda explained. 

According to Oanda, treatment depends on the complications from Marfan syndrome.

“Surgical management of these cases are preferred where treatment cannot be achieved by optical correction,” he said.

Effects of condition on the heart

The condition has also affected Murugi’s aortic valve. She runs out of breath when she overworks her body. 

“I also have one large aortic valve which slows down my heart and puts my life at risk if I dare do a lot of strenuous activities,” she says.

According to Dr Oimeke Mariita, a family physician with the Oasis Healthcare Group Ltd, the weakening affects bones and joints as well as internal structures, such as the heart, blood vessels, eyes, lungs, and central nervous system (the brain and spinal cord).

The aorta (the main artery of the body) may weaken, bulge, or tear, causing the valve to leak, he says.

“The most dangerous complications develop in the heart and lungs. Weakness may develop in the connective tissue of the wall of the aorta. The weakened wall may result in blood seeping between the inner layers of the aorta’s wall (aortic dissection), which causes a tear, or a bulge (aneurysm) that can rupture. These problems sometimes develop before a child is 10 years old,” Dr Mariita explains.

In pregnancy, the condition increases the risk of aortic dissection and caesarean delivery (C-section) is often recommended to minimise the risk.

 Widening of the aorta occurs in 50 per cent of children and in 60 to 80 per cent of adults, Dr Mariita says.

These heart valve abnormalities can impair the heart’s ability to pump blood. Abnormal heart valves can also develop serious infections (infective endocarditis).

Marfans syndrome also affects the lungs, causing air-filled sacs (cysts) to develop in the lungs. The cysts may rupture, bringing air into the space that surrounds the lungs (pneumothorax). These disorders can cause pain and shortness of breath.

“Years ago, most people with Marfan syndrome died in their 40s. Today, people who have Marfan syndrome have nearly the same life expectancy as people who do not have this condition. Prevention of aortic dissection and rupture probably explains why the life span has been lengthened,” Dr Mariita says.

Murigu says she is under no specific treatment for her MFS condition.

“When I was young, the doctors suggested surgery to correct the aortic valve but because it is a risky procedure, my parents chose not to go through with it,” she says.