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Jennifer Peruso

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Walking Through Williams Syndrome: A Mother's Journey From 'What Ifs' to 'What Is'

Posted: 05/10/2012 12:44 pm

I believe, whether we admit it or not, that most pregnant women think "what if" at one point during their pregnancy. What if there is something "wrong" with my baby? What if I am unable to cope with that? What if I feel ashamed? What if I feel angry? I am pretty sure that not many women think during their pregnancy "what if I have a special needs child and it makes my life more magical than I could have ever imagined?" That is exactly what having a special needs child has done for my life. A joyful, tiny boy with Williams Syndrome has transformed me. He has been my greatest teacher to date.

In all honesty, I have not always had this perspective. My story begins like so many others: I was newly married and my husband, Nick, and I wanted to have a baby. I got pregnant with ease, and we were thrilled. My pregnancy progressed fine initially, but at 26 weeks during a routine ultrasound visit, everything changed; our baby was growing behind schedule. They diagnosed me with Intrauterine Growth Restriction, or IUGR. After the diagnosis I was given many tests to determine the cause. I was eventually told that sometimes they don't find a cause, though the cause could be a genetic abnormality with the baby. That possibility loomed heavily in our minds. What could it be? What would it mean for us? We tried to remain as positive as possible in the face of also being told that having IUGR increases the odds of us having a premature baby. I did as much research as possible on prematurity in the hopes of preparing us. At this point, still unsure of the cause for the IUGR, we tried to prepare ourselves for the early arrival of our baby. I learned that if our baby could make it to 32 weeks, he or she would have the best chance. Despite all of the unknowns, we felt that somehow we would meet our baby and everything would work out.

Week 32 arrived, and my husband and I set off for our weekly specialist appointment to check on the growth of the baby. I told my husband that I felt like that day might be "the day" because something did not feel right. He tried to reassure me that it was going to be fine. During the ultrasound, the doctor discovered that the cord was wrapped around the baby twice and told us that we must go immediately to the hospital for an emergency c-section.

I felt like I was in a dream about someone else's life. This was it. Panic and fear gripped us as well as excitement at the prospect of meeting the baby that we had fought so hard for. However, all the preparation in the world did not prepare us for this day. We raced to the hospital and within two hours I was in surgery. I remember sitting in the hospital bed before going into the operating room and finally allowing the tears to come. I had tried to be so strong for so long, but the realization of all this meant for our lives and the life of our child came pouring out.

Gabriel Nicholas Peruso entered the world weighing only two pounds and ten ounces. He was not breathing on his own and needed to be put on a ventilator.

In your mind, you imagine the moment of your child's birth and it is beautiful. Gabriel's entrance into our lives was far from beautiful.

When they held Gabriel up a part of me was afraid to look; I did not know what to expect. He was not crying and he was blue and wrinkled. His skin was too big for his tiny body. Despite all of that, we were grateful that he was alive. The doctor gave us a brief moment with him and then he was whisked away to the Neonatal Intensive Care Unit NICU. We were scared, but refused to entertain the fact that Gabriel would be anything but fine.

The pain of being separated from him was immense. Every instinct I had was telling me I had to get to him. Being told I could not was devastating. On top of that, the medication I had received during my c-section was making me sick. I finally convinced my husband and the nurse to take me to see him. They wheeled me into the NICU with a bucket on my lap in case I got sick again. Again, not the pretty picture I had imagined. The NICU was to be our new home for the next five weeks. It was an overwhelming place. People hustled about with a purpose, monitors beeped and families spent time with their tiny miracles.

As soon as I saw Gabriel for the first time with the tubes and wires sticking out of him and the ventilator covering his tiny face, my sadness overwhelmed me. I broke down and sobbed. It was agonizing to see his tiny body fighting so hard for survival. He could have fit in the palm of my hand, yet I wouldn't be allowed to hold him for several days. I felt so connected to him instantly and knew that his fight would become mine. I thought that the pain I was in was going to be more than I could bear. My husband and I were heartbroken. We just stood next to his isolette and stared through our tears. How could this have happened to us? Even though he was tiny and fragile, we saw beauty in our tiny baby and our lives changed forever. I began asking questions immediately and have never stopped. It was here that I experienced a flicker of magic amongst the pain.

The hospital was an amazing place. I was allowed to stay in a hospital room for free after my discharge to be with Gabriel. I was so grateful for that -- I am not sure I would have been able to leave without him. We lived an hour away and my husband came to visit each night after work. It was such a difficult time for all of us. Living on the maternity floor was a mixed blessing; each day I walked past new parents holding their new babies and I was constantly reminded that my journey was different. It was hard at times not to become resentful. But the amazing nurses and doctors tempered the constant worry and stress. Their compassion and patience seemed to be limitless. They were never too busy to answer a question or just to talk. They brought us hope.

I cried constantly. I am not a person who normally cries often or easily, so it was disorienting to be reduced to tears so often. I would come into the NICU to visit and hear his screams and come into the room and see that it was time to change his tiny IV. I would be sobbing before I knew it.

The time finally came when my husband and I were allowed to have a "trial" night in the hospital, taking care of Gabriel with the nurses nearby. We were excited, but also nervous. We had witnessed medical personnel care for our baby up until this point, how would we measure up? The night was awful. Gabriel cried for most of the night and seemed unable to be soothed. We felt like failures. Gabriel had been diagnosed with severe reflux in the NICU that they attributed his colic and irritability. Despite that long night -- the first of many -- we couldn't wait to bring him home. We told ourselves it would be easier after he came home. We could not have been more wrong.

The day we brought Gabriel home was very close to his original due date. I vividly remember the fear that washed over me as well as the excitement of finally going home as a family. He weighed only four pounds and was on an apnea monitor. We placed him in the special car seat that was still too big for him and had to prop him up with rolled blankets. I sat in the backseat while Nick drove. I was terrified to let him out of my sight, as he sometimes forgot to breathe and needed to have his chest lightly rubbed as a reminder. As we began our journey home, I had a moment on the highway where I needed Nick to pull the car over at a rest stop. I felt like the world was closing in on me and I had to get out and walk in the fresh air. So many thoughts were racing in my mind; how would we ever be able to care for such a fragile infant? I was filled with doubt. How would this ever work out?

As great as the NICU was, we were not prepared for life at home with a premature infant. We had endless appointments to keep with specialist after specialist after specialist. The first year and a half was brutal. Between his extreme reflux and colic and not sleeping, I felt like I was living in a nightmare. I worried constantly about him getting enough nutrition. We had to switch formulas often to try and bring him some relief. He had trouble gaining weight, despite my best efforts. It felt so overwhelming to bring such a fragile baby to all of those appointments. I felt totally unprepared for my new role in life, and I felt scared and overwhelmed most of the time. Daily calls to my mom and a fellow NICU mom kept me sane, as well as the support of my amazing husband. The other ray of hope was the therapists that visited our home to provide much needed early intervention for Gabe. They were my salvation from the extreme isolation I felt. Friends and family tried to support us, but ultimately we were on our own. I felt guilty all of the time for not enjoying "motherhood". At times I even hated it. I worried that I would always feel this way about being a mother. I also felt enormous grief. What would Gabriel's life be like?

Amidst the despair were happy moments as well. Despite Gabriel's slow development, he still was very much connected to the world around him. When he finally began to smile, it melted my heart. Despite the frustration, I was very much in love with this tiny baby. I learned much about what the human spirit can endure -- and what I could endure. Things slowly began to improve and I started to feel my spirit energized with new resolve.

As time went on, my concerns shifted from Gabe's survival to his development. His development was perplexing at best. I expected delays due to his prematurity, but I felt his delays were getting larger, not smaller. At each gastrointerologist appointment, I asked if delays were common with extreme reflux, but the answer was always no. I knew in my heart something was "different" about Gabe, yet I could not seem to find the answer. His therapists felt the same way. By this time he had gone from a cranky, colicky infant to an absolutely delightful toddler. He smiled all of the time and his happiness had no boundaries. It made life so much easier. We all felt that what he was taking in was really good; he was very much engaged in the world despite his lack of language and difficulty with motor skills. It was his output that was so delayed. I began researching syndromes on my own to find the piece that might fit into our puzzle; we also went to a geneticist that came up with nothing.

Finally, the answer came via an occupational therapist that visited us when Gabe was 2 1/2 years old. She was reevaluating Gabe to see if he still qualified for services. I began sharing my concerns with her and she seemed to have something on her mind. I assured her that it was okay to share what she was thinking, that I had known for a long time that there was something different about Gabe. That is when she shared that what I was describing reminded her of Williams Syndrome. We briefly discussed it and after she left I began reading about it and knew we had found our answer. I was thrilled. That may seem like an odd reaction, given that I just learned that my child may have a genetic condition, but I had long since grieved the loss of my previous expectations of what it means to have a child. I called the pediatrician and she ordered the blood test. The blood test confirmed our hunch.

Williams Syndrome is a deletion of genes on the seventh chromosome. It affects each child differently. There are some medical concerns as well as learning difficulties that go along with it. However, one of the prominent features of the syndrome is an extremely friendly, endearing personality with a love of music. Gabriel is truly the happiest and gentlest person I know. He makes our world a better place and enchants everyone he meets. He is now four and half years old, and we do not know how his life will unfold or what challenges lie ahead. Having a special needs child is really difficult sometimes. Some days I struggle with what is the best thing for him. Other days I wish Gabriel didn't have Williams Syndrome so that things that others take for granted would be easier for him. There are days when I will think of something Gabriel may never get to experience because of his syndrome and I am overcome with grief. However, most days, I am simply charmed beyond words. Gabriel was meant to be our child. What we have gone through to this point has enriched our lives beyond our wildest imagination. He has taught us about love, patience, laughter, light and magic. He has brought us to our knees and back and we will forever be grateful for the journey. So next time you wonder "what if", do not limit yourself with ordinary answers, entertain the possibility that something magnificent might be right around the corner.

Gabriel Peruso Jenn And Gabe
 
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