Happy – that is how Maida Chaguan now sees her older sister. But just a few years ago she would have described her quite differently. “Alix lost all of her energy, she barely communicated with us and appeared moody all the time,” says Maida Chaguan.
Alix Chaguan, 34, is one of many adults with Down syndrome who also was born with debilitating heart disease. Her health began to decline nearly 11 years ago. “She would wake up in the middle of the night gasping for air,” Maida Chaguan says. “When I held her hands, I noticed her fingers were purple.”
Alix Chaguan was born with complete atrioventricular septal defect, which is a hole in the wall dividing the heart’s upper chambers. Septal defects are common in children with Down syndrome but do not always lead to severe cardiac disease. However, Alix Chaguan’s case was severe due to a late diagnosis. “By the time we met Alix, the heart disease had already affected her lungs,” says Ami Bhatt, MD, medical director of the Adult Congenital Heart Disease Program in the MGH Institute for Heart, Vascular and Stroke Care. “Because she wasn’t diagnosed as a child, she was unable to undergo surgeries that may have prevented her from declining as she got older. MGH cardiologists work closely with patients like Alix Chaguan to manage congenital heart conditions so they can live full, healthy lives.”
Taking appropriate precautions and respecting the risks involved treating patients with Down syndrome, Bhatt prescribed a daily medication to decrease the blood pressure in the lungs and help Alix Chaguan breathe easier. “It was nice not to have to do something invasive,” Bhatt says. “This was a person who was not feeling well enough to be the person she wanted to be. Alix’s story is reflective of many young adults with chronic disease. Over years, patients get used to what they think their lives are supposed to be. It’s our job to challenge them and say, ‘Do you really feel the best you can?’”
Although Alix Chaguan has limited communication abilities, Maida Chaguan says she can see the change in her sister. “She danced for the first time in years. I know she is happy now. As a sister, it’s one of those things you just know.”
For more information, visit http://massgeneral.org/adultcongenitalheart.
Read more articles from the 02/14/14 Hotline issue.