Leta was born in 1997 in Indianapolis, Indiana Although she remained in the PICU for 2 weeks afterwards, I had no concerns when she first came home. She was my beautiful baby girl, but over the next few months, my reality changed dramatically. I had to rush Leta to Riley Hospital for heart surgery, she began developing chronic pneumonias, and it became quickly apparent that she was not hitting any of her developmental milestones. Despite all this, surprisingly, no doctor was able to tell me what, if anything, was wrong.
Leta is now almost 19 years old, but I spent the first 16 years of her life without a diagnosis, other than Pervasive Developmental Delay of unknown Etiology, and in those 16 years I traveled a medically and emotionally challenging road. I loved Leta unconditionally, but my life with her was not an easy one. As many parents of special needs kids know, caring for my little girl was an on the job crash coarse and immersion into a world we were not trained for. It forced us to have to quickly understand that the family we were forming was going to be vastly different than others. And that we had a choice how we we were going to navigate this new path. Leta changed all of us; slowly at first, but definably as each year passed.
My goal in this blog is to document my emotional and medical journey these past 18 years, in hopes that it helps others in my situation better understand their own journey. But I also hope this blog highlights the pure moments of joy and happiness that Leta has brought me, despite the crazy messy moments, and finally I hope this blog makes you laugh and cry in equal parts.
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….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 the kids with CHOPS Syndrome that will be born tomorrow.