When Leta , Liam and Nadira were first diagnosed with CHOPS Syndrome two years ago by Dr Ian Krantz and his dream team of geneticists at Children’s Hospital of Philadelphia, I was in shock that there could actually be two more kids in the world like Leta with this rare combination of traits and medical issues. I had always assumed that Leta was one of a kind. But how wrong I was… Two years later, 3 more kids have tested positive. And so now there are 6. Six uniquely special kids to date in the world: Alex, 22, is the oldest and lives in Australia. Leta,18, lives in Philadelphia. Liam,15, is from Delaware. Nadira,11, calls Brooklyn her home. Eider is 9 and hails from the south of France. And now recently in Chicago, a 19 month old little girl has a also been diagnosed. The family has not shared her name yet and I can only imagine that they are just beginning to grapple with the reality of this diagnosis.
. ( Please note that this letter I have written only expresses my life with Leta. There is evidence to suggest that children born with CHOPS syndrome, like any other genetic disability, fall within a very wide spectrum of health, behavioral and developmental abilities.)
Dear Family in Chicago:
I wish I could have received a letter like this when I was where you are. Life has thrown you a curve ball but from my perspective, you are also very lucky. My daughter Leta is the oldest girl diagnosed with CHOPS Syndrome, but for the first 16 years of her life we did not have a diagnosis. When she was your daughter’s age, I was scared, angry and confused. I was not sure that I was up to the challenge of raising my little girl. We did not have doctors able to tell us if she would ever walk, or talk, or live past the age of 2. No one was there to explain that she would never grow taller than 3 feet 8 inches, that her pulmonary condition was genetic, or that her gene mutation was random, so giving birth to more siblings did not need to be a game of Russian Roulette. There were so many stressors while raising Leta those first few years, because our lack of information was vast and our learning curve slow.
But time slowly taught us everything we needed to know. Leta learned to walk when she was 3 years old, to talk in one or two word sentences shortly after that, to develop a wonderful vocabulary of 50 words over the next 10 years which included “I love you” and “Home”, to learn sign language and develop a witty sense of non-verbal humor throughout. Leta was labeled as cognitively impaired at age 6, but she is nobody’s fool. Now 18, she runs our house, understands everything that is happening around her and is such an important and beloved member of our family and larger community. It has not been an easy journey. Leta is medically very fragile. She has undergone heart surgery, dozens of ICU visits for respiratory distress and pulmonary hypertension, two hospitalizations where she was on life support, and many more visits where the outcome was uncertain.
Recently, Leta was in the hospital for bilateral pneumonia and when she came home she had lost her ability to walk. At first we thought she’d fallen down and possibly broken a bone, but endless tests and X-rays ruled that out. We did blood work for viruses, and inflammation and auto-immune deficiencies but nothing solved the mystery. Her condition lasted for months and then just went away. Thankfully, Leta is slowly regaining strength and walking a few feet at a time; more like an arthritic old lady than her usual rambunctious self, but walking none the less. We never did figure out what caused this relapse. And because Leta is one of the oldest with CHOPS syndrome, we have to accept that she will continue to be a pioneer in this genetic frontier. and I’m certain we will continue to be caught off guard by her medical setbacks. In my darker moments, I have to accept that we will not know what the quality of her adult life will be or her life expectancy.
But this is what I DO know….
After all these years, my gift to you is this simple truth. There will be far greater moments of joy than hardships on your journey with your daughter. The happiness will eclipse your moments of despair. And this journey will change you, your family, your other kids and your friends in all the best ways. I can not live without Leta’s smile, her soul is so strong that sometimes I need to just place my head next to hers while we are sleeping so I can selfishly feel connected to her enormous spirit. Her energy and will to do things, despite her challenges, encourages me to try harder, be more patient, and appreciate all that I have in this life. Leta is the essence of love. That is all she wants from the world and that is mostly all that she can offer. But this quality in her is undeniable, it is powerful and hopefully contagious in a world that focuses so much on the negative and superficial.
Happiness is simple for Leta. And her happiness and her belly laugh are infectious. I can not imagine my life without her. I like to think that Leta was given to me for a reason. Whether this is true or not, I know that without her in my life I would be a different person today. I would have focused to much on the material world, and not enough on what really matters….And most of all, I would have become a person that did not ever become fully conscious of the power of unconditional love.
Leta has introduced us to so many amazing people. She is a connector to healers, caretakers, teachers, and fellow journeymen that have changed my perception of how the world works and has shown me the best of human nature. This is an important window; be sure to open it because it is one of the gifts that will heal the pain of your other struggles.
I know this diagnosis must be very hard for you, and I am certain it is not a club you ever wanted to join, but please also know that you do not have to go down this path alone. Your daughter has 5 other children to help guide her in her journey and you all, as her parents, have 10 other like-minded parents who are eager to share their stories and support yours.
We travelled this road blindly. You don’t need to do that. There is now a road map and rest stops along the way that will help guide you.