You’re never, ever prepared to get the news that the baby you waited for, planned for and dreamed about for nine months is a ‘special needs’ baby who will require extra care all of his life. That’s the news that my daughter, Laura, and her husband, John, got last April.
LITTLE MAN JAKE
Their second pregnancy was unremarkable, and they had no reason to believe that the baby wouldn’t be like their first child, Katie, born almost two years earlier—a precious, ‘perfect’ child with a headfull of dark, curly hair and an ability to make us all laugh when she breaks into dance at the slightest sound of music of any kind, including the new hip hop beat of a ringing cell phone.
But John Joseph, whom we call Jake, was born with Prader-Willi Syndrome, a random genetic disorder involving the 15th chromosome. In addition to possible mental retardation, the part of Jake’s brain that should tell him when his stomach is full will not function, and he will have a constant, insatiable hunger. If he is not watched closely, and his food intake strictly monitored, Jake will be prone to obesity and the resultant life-threatening problems associated with it.
At first we were all in a state of shock. How could this happen? The shock is then replaced by a sense of mourning for the baby you thought you were getting but didn’t get. As family, you cry, you pity yourself, you worry that your child will be stared at, made fun of, and that you will want to keep him hidden away for both his sake and yours.
Jake was born with two fingers on each hand a full joint shorter than the others, and his thumbs a little lower on his hands than normal. His big toes on both feet were also malformed, and his second and third toes webbed. In addition, he had very low muscle tone and was unable to suck, so doctors inserted a feeding tube into his stomach. At first the doctors didn’t have a definitive diagnosis without further genetic testing. They said the bilateral deformity of some of his fingers and toes was indicative of some sort of syndrome, and they suspected either Prader-Willi (named for the two doctors who studied it) or Zellweger’s, which is an almost certain death sentence within the first year of life.
While we waited weeks for the test results, Jake was in the neonatal intensive care unit at the hospital where he was born. He remained there for two weeks and was then transferred to Children’s National Medical Center for an additional two weeks. The doctors explained both syndromes in detail, and Laura and John looked up everything they could on the web. While we waited, we agonized over which of the two would be worse for Jake, and for us. My other two daughters and their husbands were very loving and supportive, as was John’s dad, stepmother and sister, and together we tried to sort it all out as a family. If it was in fact Prader-Willi, we couldn’t imagine a life where we would have to literally lock food away from him and forbid him to enter the kitchen except at mealtime. What would school be like? What will he do when the other kids are having party treats and snacks and he can’t enjoy them, too? How will this affect Katie? She’s a normal little girl who likes to raid my purse for the candy (usually M&Ms) that “Pop” and I always bring her. Will she resent Jake when she is deprived of birthday parties and M&Ms and other things that all children enjoy? Will he be retarded? And if it’s Zellweger’s, would that be more merciful, and how on earth can we have him for several months and then lose him to an early grave?
The tears flowed freely those first few weeks for the whole family, but Laura and John decided early on that no matter what the outcome, Jake was as much a part of them as Katie, and they would do whatever was necessary to give him the love and care that he needs.
It was the saddest, most heartbreaking time in all of our lives. My husband and I ached for our daughter and son-in-law and felt helpless to comfort them.
Finally, after weeks of waiting, the test results were in, and Laura and John were told that Jake has Prader-Willi Syndrome. The doctors said that, while his degree of mental retardation, if any, would not be known for a while, the only thing definite across the board in Prader-Willi children is the insatiable hunger, which will most likely manifest itself when he is between two and four years of age.
So Jake came home from the hospital, minus all the tubes and machines that monitored him while in the intensive care nursery. Laura pumped her breast milk and fed him through the feeding tube in his stomach. Every now and then she would try to get him to nurse, but he was too weak to suck. He didn’t cry, either. He didn’t have the strength. Every little movement wore him out, and he slept practically all the time during the first few months of his life.
Sleeping or not, we all held him and rocked him and fed him through his tube, and soon the tube was second nature. Eventually he started keeping his eyes open more and focusing on his surroundings. And he started getting stronger, too. At six months he was taking his feedings through a special bottle by mouth, and eventually he was able to eat baby food when fed with a spoon.
He started getting daily injections of growth hormones at nine months to make him grow at a normal pace. He was fitted for glasses, not for his vision, but to strengthen his eyes so they don’t cross.
He has a physical therapist, a speech therapist who helped him learn to suck, and many other people working with him. But his parents are the ones who never falter when it comes to helping him along and loving him all the way. From the day he was born they never wavered in their determination to make him feel safe, loved and wanted.
Today, at thirteen months, he is a beautiful, healthy, sweet little boy who laughs and smiles like any other baby. He has big, beautiful blue eyes and a perfect little nose, and we all fight over who gets to hold him next. He is now able to hold his head up on his own and likes to lie on his belly and watch things going on around him. His sister adores him and tries to kiss him and smother him with affection constantly. There is no doubt she will be very protective of him from here on out.
When Jake was born, one of the nurses in the neonatal intensive unit gave Laura a pamphlet written by the mother of a Down Syndrome baby. In it she says that when people ask her what it’s like to have a special needs baby, she explains that it’s like planning a trip to Italy. You happily buy all the guide books and make your plans, and finally it’s time to board the plane. After the plane lands a short time later, the stewardess tells you, “Welcome to Holland.” You say, “But I didn’t want to go to Holland! I signed up for Italy, and I want to go to Italy.” She tells you she’s sorry, but the plane couldn’t go to Italy, and now you must stay in Holland instead. The author said you never get over not being able to go to Italy like you planned and sometimes you grieve about it, but she went on to say that if you spend all your time wishing you were in Italy, you never get to enjoy the windmills and the tulips and all the special, beautiful things about Holland.
Laura just told me the other day that when people come up to her with gloomy looks on their faces and ask her things like, “How are you holding up?” she feels sad that they assume Jake is a burden. She is quick to tell them that not only is he not a burden, but she and John feel very blessed that God gave them this very special and precious little boy to love.
God has given us all a great gift. Life is not going to be easy for our Jake. Prader-Willi may affect his metabolism, his strength, his coordination, his ability to think and learn, and even his behavior. There will be times when all of our hearts will break because he will not be able to do the things other children do and won’t understand why he’s different. But there is one thing that we are absolutely, positively sure of: whatever he is given in the form of love and affection he will give back a thousand times over. He is already a pleasure to hold and cuddle. His hands are soft and warm. His cheeks taste better to us than the sweetest cream. And you just have to see him smile and hear him laugh to know that he will light up any room he enters, just as he has already lit up our hearts.
The other day I was feeding him some pureed plums as he sat in his little seat. Periodically I would turn away from him to see something on TV. Each time I turned back to him, he was looking up at me with the sweetest, most innocent look on his face. I smiled and said “Well, hi!” The big, gleeful smile that he gave me back each time warmed my heart and sent waves of love for this little boy all through me. I can’t accurately describe the feeling of love that he inspires in all of us…it’s not pity, or even compassion--it’s genuine, flat-out love and joy that we feel for this little person who has enriched our lives and taught us so much about love.
One of the most important things Jake has taught us is that you don’t have to be perfect to be perfectly lovable. What’s more, he has taught us that God knows what He’s doing and that ALL babies are perfect in His eyes, and so who are we to think they are anything less?
No matter what the future holds for Jake, the good days and bad days, all little battles lost and won and all little accomplishments celebrated, our Little Man Jake is nothing less than a miracle that we will be thankful for, enjoy and cherish forever.
Author's Note: To learn more about Prader-Willi Syndrome or to make a donation toward research for a cure, please visit www.pwsa.org.