By Dawn Moreno | With advances in prenatal care I believe there comes a sense of security that a typical healthy newborn will soon arrive. On August 16, 2010, after a very normal, healthy, full term pregnancy it was time to welcome a new family member.
On this hot East Coast summer day, in a labor and delivery suite, we anxiously waited on the arrival of our third grandchild. Nothing prepared anyone in the room for what was to have happened that day. The atmosphere in the room was lighthearted. We enjoyed upbeat conversations about family, children, pregnancy and experiences with the expectant mom, dad, grandma and grandpa, two nurses and an ob/gyn. There was no rushing and no active delivery stage.
I am Andrew’s grandmother and I share my personal story with the Convaid community. Every detail remains ingrained in my memory as if it were yesterday, not 5-1/2 years ago. The whole experience was surreal. Suddenly, without warning, we’ve landed in Holland.
What I mean is this, Welcome to Holland, by Emily Perl Kingsley, who writes:
I am often asked to describe the experience of raising a child with a disability – to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It’s like this: When you’re going to have a baby, it’s like planning a fabulous vacation trip – to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It’s all very exciting. After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands.
The stewardess comes in and says, Welcome to Holland.
Holland?!? you say. What do you mean Holland??
I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy.
But there’s been a change in the flight plan. They’ve landed in Holland and there you must stay.
The important thing is that they haven’t taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It’s just a different place. So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It’s just a different place. It’s slower-paced than Italy, less flashy than Italy. But after you’ve been there for a while and you catch your breath, you look around and you begin to notice that Holland has windmills and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy . . . and they’re all bragging about what a wonderful time they had there.
And for the rest of your life, you will say “Yes, that’s where I was supposed to go. That’s what I had planned.”
And the pain of that will never, ever, ever, ever go away because the loss of that dream is a very very significant loss. But, if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things . . . about Holland.
Without the assistance of a single push, this TINY little boy weighing 4 pounds, only 16 inches long arrived and a deafening hush quickly fell upon the room. One nurse swiftly went to the phone on the wall to page neonatal intensive care to out room.
Unspoken directions, and concerned eyes quickly darting back and forth. There was no “first cry” as we watched big round brown eyes blinking to focus and explore the faces around him, effortlessly breathing on his own, a head of SO much wavy brown hair it could already use a trim. High arched defined eyebrows, long full eyelashes that don’t usually come in until a couple weeks after a baby is born.
Patches of fine brown hair, on his back and on top of each thigh. Small hands and small feet, fingers no longer than my thumbnail. A small recessed jaw that would make nursing impossible and bottle feeding difficult. There was one specific feature that struck me as peculiar, his arms didn’t taper, and appeared to have no wrists between his arm and hand.
NO ONE would tell us ANYTHING.
So many times the same questions were asked “is he okay”, “what’s wrong” “is there something you aren’t saying” all fell on deaf ears. I left the hospital that night in a heightened state of fear and confusion I would never wish on anyone. I Googled all night, every characteristic I could recall but retrieved nothing specific and nothing optimistic. In the morning, a geneticist would be the first person to say, Andrew has a condition called Cornelia de Lange Syndrome.
As with many other genetic syndromes, many individuals with CdLS resemble each other. There’s an abundance of information to be found about CdLS and how it’s a clinical diagnoses. Managing CdLS can be very challenging because it manifests itself differently and there are no two cases alike. Its exact incidence is unknown, but estimated to be 1 in 10,000 to 30,000 live births. There is currently no definitive test to diagnose CdLS as research is still in early stages.
Our most valuable resource has been an online support group. Shared knowledge and experiences is a tool that has guided us along our journey. In return we can share what we have learned, especially with new parents, grandparents, caregivers, therapists, friends and family.
Our CdLS Support Group on Facebook is a special community, a family. Parents that have searched for a diagnosis for 10 years, others that are just days in and their newborn is still in the NlCU. They are especially overwhelmed, frightened and exhausted. We give them a soft place to land. It is a place where families experiencing critical illnesses, medical mysteries and those sadly experiencing the sudden loss of their child congregate.
Our support group offers a a wealth of information on what may or may not happen in the future, but no way of predicting when or how. I’d like to believe every geneticist across the country is aware of CdLS, but with 7,000 rare diseases, that’s a huge expectation.
Today, as we strive to build awareness of rare diseases on this global Rare Disease Day, I can only stress the absolute, critical importance of early intervention. As with many other genetic syndromes, early intervention in CdLS is extremely important.
CdLS causes physical, cognitive and developmental delays. CdLS is also called De Lange Syndrome, Brachmann Syndrome and Amsterdam Dwarfism. In about 30 percent of cases, the cause of Cornelia de Lange syndrome is unknown. Our family is fortunate enough to have access to CHOP CdLS Center of Excellence in Philadelphia Pennsylvania.
The dedication the CdLS team has to research and the quality of life impacts many, many lives. They’ve even developed a virtual consultation for families that don’t have access to that level of care.
All of this changed how we live each day. Andrew is mostly nonverbal, but he communicates quite well, he has opinions and has a lot to say. In a fast paced world full of multitasking, we have embraced a different way of life.
To communicate with Andrew you have to be fully engaged and 100% present in that moment. When you get to know him, you get a glimpse of his pure joy of life. If he cried, you’d barely hear him, even if you’re in the same room. The reality is he rarely cries. Many CdLS individuals have a very high pain threshold, so caregivers routinely inspect for any bumps, bruises or scrapes.
On the surface, it could seem obvious how different Andrew is from a typical kindergartener. His appearance is different. He’s delayed physically, cognitively and developmentally. He’s nonverbal. He’ not walking yet. His elbows don’t extend. Some of his fingers and toes are webbed. A simple cold may come and go or land him in the pediatric intensive care unit.
Or, you could do what WE do. Andrew is a little boy. He is part of a family. He likes to go to school, the zoo, the park, the movies, amusement parks, out to dinner, swimming, trick or treating, to see Santa and to grandma’s house! He likes to draw, he likes music, playing cars with his brother, watching videos on the iPad with his sister, playing with his trains, watching Mickey Mouse, giving hugs and kisses, climbing and laughing. He has a fantastic sense of humor and loves a good tickle monster.
Throughout the year, a weekly blog will chronicle his journey, educate and spread awareness of CdLS.
It’s estimated that 20,000 cases may be undiagnosed. The more people that see a child with CdLS, the higher the chance another child can finally get a correct diagnosis.
Andrew lives with CdLS, he’s not defined by it.
His happiness is contagious, his syndrome is not.