Leta was born in 1997 in Indianapolis, Indiana. Although she remained in the PICU for 2 weeks afterwards, we had no concerns when she first came home. She was my beautiful baby girl, but over the next few months, our reality changed dramatically. We had to rush Leta to Riley Hospital for heart surgery at 3 months old, then she began developing chronic pneumonias, and by nine months it became apparent that she was not hitting any of her developmental milestones. Despite all these setbacks, no doctor could tell us what, if anything, was wrong with our child.
It is hard to believe but Leta is now 23 years old. We spent those first 16 years of her life without any diagnosis, other than Pervasive Developmental Delay of unknown etiology, and we traveled a medically and emotionally challenging road because in that time we lived in the Dark Ages of genetic medicine. We did not have the benefit of DNA sequencing. Today, the medical world is dramatically different.
We loved Leta unconditionally, but our life with her was not easy. Not only did we have no idea what the future held for her medically, we were caught off guard day-to-day by her constant medical setbacks. Our life from the day she was born was an on the job crash course into a world we were not trained for. It forced us to quickly understand that the family we were forming was going to be vastly different than others around us. But most importantly, what we didn’t understand was that we had a choice how we were going to navigate this new path. Leta changed all of us, slowly at first, but definably as each year passed.
In 2012 Dr. Ian Krantz and the Medical Genetics Department at CHOP made an exciting breakthrough in the sequencing of her daughter Leta’s DNA. CHOP discovered a rare syndrome that at the time only 2 other children in the world shared with her. Leta, now 23 years old, is the first child in the world diagnosed with CHOPS Syndrome, but there are now 22 total kids and young adults around the world who share this very rare genetic disease. The CHOPS gene mutation is on the AFF4 gene and is considered to be a “master switch” gene. Like a coxswain in a crewboat, it tells the other genes what to do to navigate properly. Somehow, Leta’s master switch gene got off course.
CHOPS Syndrome is an acronym for the following traits: (C) cognitive, (H)heart defects, (O) obesity, (P)pulmonary, and (S) short stature.
Leta has so many challenges; her short stature, her lung and heart disease, her inability to communicate her basic wants and needs verbally, her outrageous behavior in public and her insane antics when she doesn’t get her way. She is a whirling dervish and a minx but she is also the love of my life…