Trisomy 22
Lily was born on Jan. 4, 2013. During her newborn screening in the well-baby nursery, it was discovered that she had a murmur. The doctors felt it was normal, caused by the hole that all babies are born with, called a PDA. To be safe, an ultrasound of her heart was performed. It was discovered that she had a much larger hole in her heart, as well as other problems. The results were sent to Birmingham, Ala. to be read by a Pediatric Cardiologist. In the meantime she was moved to the NICU where she could be better monitored and cared for. After four days she was released to go home, and to follow up the next day with the same cardiologist in Birmingham. At that appointment it was discovered that Lily had a congenital heart defect known as tetralogy of Fallot with pulmonary atresia, pulmonary stenosis, and an inverted aortic arch. The doctor decided that Lily would need open heart surgery when she reached 6 months old. He would see her periodically in the meantime to make sure she was doing OK. Lily went home with her family and the problems began. After her first checkup, her mother was not satisfied with the answers given. After two weeks, she sought a second opinion with a different pediatrician. He did a more thorough exam and found that Lily's bottom did not look right. She was referred to a specialist in Birmingham at Children's of Alabama. The specialist did her exam and found that Lily was also born with an imperforate anus and a perianal fistula. Basically her anal opening was too small and in the wrong place, making it not completely functional. She was immediately scheduled for surgery the following day. She was three days shy of 1 month old at the time of her first surgery. The surgery to place a colostomy bag went as expected. During her week-long stay for recovery she started having problems with her heart. Her O2 stats kept dropping and she was having tet spell after tet spell. She was moved from the regular cardiac floor to cardiac ICU and placed on some medication to help her. When the medicine showed signs of working after a week, she was moved back to cardiac CCU. It was determined by a team of cardiologists that Lily would need her heart surgery much sooner. She was placed on a high calorie diet to force her to gain an acceptable level of weight. During this time, she met with a genetics doctor and we learned that she has a genetic deformity, trisomy 22, that has caused all her problems. Basically her chromosome number 22 has six legs instead of four, meaning there is more genetic material than normal. After several weeks, she had her first open heart surgery on March 7, 2013. The surgery went well, but they had trouble getting her heart back on rhythm after they took her off bypass. Through the use of a pace maker, they were able to do so. There was also difficulty getting her bleeding to stop. During her surgery it was discovered that the valve in her pulmonary artery in her heart was less than half the size it should be and was unable to be saved. It was removed and she currently has no valve there. As a result, she has a slow "leak" pooling into her left chamber of her heart every time it beats. Over time she will need another surgery to put a new valve in, but for now she will be OK without it. She was put in ICU for recovery and after four days moved to CCU on the cardiac floor. She should have been there a week longer and then able to go home. However, she caught a bacterial infection in her arterial line which put her staying an additional 15 days for treatment. She was then released to go home. After a few months of constant trips to the doctor, she was scheduled for the repair of her bottom on May 10, her third surgery and a three-week stay. In July, she was able to have her colostomy removed, her fourth surgery and a two-week stay. Lily is now doing well and is at home with her family living life to the fullest and enjoying every day! We thank God every day for the miracle of Children’s of Alabama. The staff there became so much more than caregivers and medical professionals, they became family and saved my little girl’s life. I owe them everything.
