According to a story from echolive.ie, ten year old Adam Terry from Cork, Ireland, has directly appealed to Micheal Martin, the Taoiseach (or prime minister) of the country in order to receive direly needed surgery for scoliosis. Adam lives with Marfan syndrome, a rare genetic disorder. He has been waiting for over four years to receive the surgery. While he was scheduled to get the operation last year, Adam’s mother was told in February that it would take at least nine more months.

About Marfan Syndrome

Marfan syndrome is a genetic disorder which affects connective tissue. The severity of symptoms can vary from person to person. This syndrome is caused by mutations affecting the FBN1 gene. People with Marfan syndrome tend to be tall and thin, with distinctively long limbs, hands, feet, and digits. They also often have exceptionally flexible joints, and scoliosis is also common. Abnormalities of the aorta and heart may also be present, and these are the most dangerous characteristics of the syndrome. Marfan syndrome patients are at risk of aortic aneurysm, in which this artery expands to over 1.5 times its normal diameter. If it ruptures, it can be a medical emergency that is often fatal. Management may involve medication and surgery to prevent the possibility of heart problems or aortic aneurysm and rupture. Keeping heart rate and blood pressure low is beneficial, and patients are discouraged from high-intensity physical activity. To learn more about Marfan syndrome, click here.

Time is Running Out

The longer the surgery is delayed, the more complex it will be. In his ten years, Adam has already undergone 21 operations. Labour leader Alan Kelly presented Adam’s situation before the Dail and is well aware that his condition has become very serious:

“…The spine is so bad that some of the internal bones are now rubbing off one another, and he has to try and crack his back to get pain relief.” – Alan Kelly

The deformation has compressed Adam’s organs and he is unable to eat normally. Unfortunately, delays in urgently needed treatments or surgeries can have dire consequences for patients with rare diseases like Marfan syndrome.

Thankfully, Adam now has the attention of Taoiseach Martin:

“It’s our responsibility as government to make sure that children can access surgery in a timely manner.” – Micheal Martin

Hopefully, Adam will get the surgery he desperately needs sooner rather than later.