Leta was born in 1997 in Indianapolis. She was born at 5 lbs 4oz, but although she remained in the PICU for 2 weeks afterwards, we had no concerns when she came home. Over the next few months, though, things changed dramatically. Leta was rushed to Riley Hospital for heart surgery, had multiple bouts of pneumonia and was not hitting any of her developmental milestones. Besides having lung disease, doctors could not tell us what if anything was wrong with her.
We spent the last 16 years without a diagnosis, other than Pervasive Developmental Delay of unknown Etiology, and in those 16 years we traveled a medically and emotionally challenging road. We loved Leta unconditionally, but our life with leta has not been easy for my kids, my marriage, or my sanity.
My goal in this blog is to document my emotional and medical journey these past 16 years, in hopes that it helps others in my situation, but also, that the blog illustrates the pure moments of joy and happiness that could never have happened without little Leta in my life.
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, a minx, a thief, but she is also the love of my life….In the last few months, Children’s Hospital of Philadelphia’s Genetics Department, under Dr. Ian Krantz. has made miraculous breakthroughs in the sequencing of Leta’s DNA. They have unraveled her genes and uncovered a rare syndrome that only 2 other children in the world share with her. Leta’s condition stems from a gene mutation that is believed to play a major role in the world of gene sequencing because it is considered to be a “master switch” gene. Like a coxswain in a crew race that steers the boat, and coordinates the power and rhythm of the rowers. this gene tells the other genes what to do to develop properly. But Leta’s master switch gene got off course somehow. The Syndrome has finally been named The CHOPS Syndrome:
(C) cognitive,(H)heart defects,(O) obesity, (P)pulmonary, and (S) short stature.
Dr. Krantz and his team believe that this discovery has huge implications for genetic research, cancer research and beyond. If you are reading this blog, I hope you will join us in our journey of discovery for Leta and for all the kids that will be born tomorrow.