about iris

Iris had emergency open heart surgery on Saturday, May 18, 2013. She was five weeks old.

After a week of tests in the NICU at Children's Hospital of Colorado, they discovered that her heart had some serious deformities. She had an atrial septal defect (ASD) that was about 1/3 to 1/2 of the septum. It was so big that no one could hear any whooshing when they listened to her with a stethoscope. She also had a huge patent ductus arteriosus (PDA), which disappears in normal babies with their first breath. Hers, however, was actually more like a fusion between the aorta and the pulmonary artery. The surgeon said that the ASD was the biggest he had ever seen and called her a 'world record holder.' He also took a lung biopsy because the echo on her lungs showed some very strange results. For one, the alveoli were far larger than they should have been.

Many babies who have congenital heart disease also have lung disease. This is the case with Iris. She has three main problems with her lungs: 1) pulmonary hypertension, which is partly a result of the plumbing problems in her heart; 2) alveolar simplification, most people have millions of tiny alveoli -- the tiny sacs involved in the gas exchange with blood. So in the small section of the biopsy that was taken most people would have had five alveoli but she had two; 3) patchy pulmonary interstitial glycogenosis (PIG) . In PIG the glycogen in the interstitial cells [the space between the air sacs] has accumulated abnormally.

is caused by an abnormal accumulation of glycogen in specific cells of the lung. These cells are located in the interstitium, the space between the air sacs in the lungs. The excess glycogen leads a thickening of the this space, making it difficult for oxygen to get from the air sacs into the bloodstream - See more at: http://child-foundation.com/education/PIG#sthash.LBl2r15V.dpuf

Finally, she was initially mis-diagnosed with a seemingly unrelated abnormality of the pupils, called aniridia. The irises in her eyes did not develop properly so her pupils cannot contract with light. In fact, this is the most visible sign of her genetic mutation, ACTA2 r179c, and it is referred to as congenital mydriasis or fixed dilated pupils.

The doctors and nurses continue to remark on how strong and interactive and happy she is. We, of course, think she's wonderful, but it's nice to have their professional opinion, too.

***December 2014 update on the underlying genetic diagnosis**