I scanned the posters of chromosomes that papered the walls of the doctor’s office. My eyes floated from one clinical rendition to another as I tried to follow the strings of colored dots that were supposed to show abnormal combinations of DNA. Finally, my gaze rested on my sleeping baby, Brianna. She lay nestled in her flowered pink and brown infant carrier next to me with a light blanket over her tiny feet. She was small for nine-months-old and had not reached the milestones that her older brother and sister had accomplished by her age. Brianna purred quietly as she slept. I watched her delicate chest rise and fall with each inhale and exhale. I could not believe that my sweet baby could have anything wrong with her. The voice of denial reasoned with me as I waited for the doctor to enter. “She was just born a few weeks early. The doctors will know. They’ll know how to help her get stronger so that she can get well.”

My six-year-old son Joseph bent over Brianna and kissed her gently on her rosy cheek. He looked up at me with his big hazel green eyes and smiled before he darted across the room to continue exploring. My four-year-old daughter Bridget clung to me with her head resting on my shoulder. She peered out from beneath her dark locks with penetrating eyes that surveyed the environment suspiciously. There was a quiet knock on the door and a short heavy-set woman entered followed by a young nurse.

“Hello, I am the geneticist,” the doctor announced with a slight Indian accent. She shook my husband’s hand, then mine, and made her way across the room to sit on a swiveling stool. Lifting her chin to adjust her gaze through her bifocals, she inspected a file that she rested on her lap, one leg crossed over the other.

Looking up again, she quietly asked the nurse who had followed her in to take the two older children to the next room to color. With an extreme amount of coaxing, I was able to pry Bridget from me and convince her to follow her brother, who was already holding the nurse’s hand excited to see what adventure she had for him in the next room. The young nurse left the door slightly ajar so that I could see where they were going.

The doctor then spun her stool towards the computer next to her, her long white jacket nearly touching the scuffed floor with the sudden movement of her low seat. My heartbeat quickened as I waited for her to reveal Brianna’s test results in the painful silence of the room. She looked up without making eye contact and laboriously wheeled herself towards us with a box of tissues that she picked up along the way. She then put the box on the examination table between my husband and I as she pushed herself back to her original spot next to the computer. Brianna smiled in her sleep and a soft sound escaped from her rosebud lips. I rested my hand gently on her belly to comfort myself as much as to reassure her that I was there.

The doctor cleared her throat and began to speak very matter-of-factly, “Brianna has Pallister Killian Syndrome, also known as PKS. PKS is a genetic disorder that is not passed down in families so your other children will not pass this in their genes. It was a fluke. PKS is a deviation of the 12^th Chromosome. It has a duplicate short arm.  It is extremely difficult to diagnose because it’s mosaic and not every chromosome has the deviation. It is a very rare phenomenon and only about 200 people have ever been diagnosed with it in the world. She also has Cortical Visual Impairment so she is blind…”

Her voice trailed off as denial drowned out the barrage of devastating bullets points that she continued to spout at us. “This doctor doesn’t know what she’s talking about! If there is a problem, there’s a natural cure.” I was never one to succumb to the negative predictions of doctors. My mother and I nicknamed her oncologist “Dr. Death” because when I sat with her in his office to hear the bad news of her fatal diagnosis, he told her she had 0-6 months to live. We tirelessly searched for anything that could cure her cancer and found experimental studies that did extend her life by several years. The first time I actually lost hope with my mother was when I knelt by her casket and touched her hand to feel the ice of her skin.

“What does this mean for her?” I heard my husband (now ex-husband) asking quietly when the doctor paused with her clinical breakdown, which had been devoid of all emotion.

“Well,” the doctor went on, “she is profoundly and globally disabled and will only be able to see light if anything at all. Brianna will never walk, talk, be able to interact with others, feed or dress herself, and will need extensive aid for the rest of her life. Basically, your lives will revolve around this child as her caregivers. It will be anything but easy. You may even want to consider whether or not this burden will be too much for you and your family. You have other children to think about too. We happen to be doing a study on children who have this rare disorder and have families who are willing to foster children with PKS for our study. It’s something to think about.”

Time stood still at that moment. I looked up at my husband as if in the middle of a still life photograph. I could see the tears in his eyes. I had only seen him cry once before in the nearly fifteen years that I had known him. I searched the doctor’s face to see any hint of compassion. I sensed that she was more excited to find such a rare case in her office than in breaking news that would change the course of our lives forever. I looked across the hall and could hear the soft voices of Bridget and Joseph as they discussed their artwork with each other. I looked down at Brianna so innocent and small. She had awoken from her brief sleep and stretched her frail limbs with a yawn.

I kept my eyes on Brianna. I stared at her for what seemed like forever. I didn’t want to cry and if I looked anywhere else I would have. She was not a diagnosis or a syndrome. I only saw my baby, my little love. I saw nights of holding her in the quiet of my bedroom. I saw her tiny hand wrapped around my finger while she peacefully nursed. I saw my angel. I could not see the years ahead that the doctor had listed painting the bleak picture of wheelchairs and total dependency. I could not allow anyone to destroy the beautiful future of hope I had dreamt of for her. I could not accept that my child would never run to me, call for me, play with her siblings, or have a promising future of college and someday having children of her own. I would not accept it.

I rose and gently lifted Brianna from her carrier. I held her close to me. I felt her tiny body relax and she sighed, comforted by my safe embrace. I could feel the soft beat of her chest next to my racing heart. I buried my face in her blanket and inhaled the sweetness of her scent. And it was then in the coldness of the doctor’s office that I broke down and cried.

Brianna is now six-years-old and has grown into a beautiful little girl. Her porcelain skin is now speckled with the cutest freckles. Her little rosebud lips are still angelic and her blushed cheeks are full. She has hazel green eyes with long lashes like her big brother and has a crop of dark curls atop her head that are sometimes difficult to tame. Brianna loves to eat, so I make sure to puree all of her favorites and feed them to her. She loves music and sways back and forth with the beat. When she’s happy, she opens her mouth in a wide smile and makes loud shrieks of pure joy. And when she’s uncomfortable or in pain, she fusses and cries, but always for a reason. At 52 pounds, she is a healthy child, but her muscles are very low in tone and have not developed normally so her body structure is still much like an infant.

Stimulation is crucial for Brianna, which seems to come naturally with our active family life. She can be very content lying on a blanket or sitting in her wheelchair, but she needs constant input from her environment to keep her engaged. She is not able to crawl or walk but receives physical, occupational, and speech therapy at a Bright Beginnings, a special school that she goes to where she works really hard. The Commission for the Blind is also helping her with light therapies to stimulate her limited vision. After a day of hard work, Brianna loves to be held. She snuggles into my arms and rests her head on my chest. She sighs deeply and sucks her thumb or pacifier drifting off to sleep.

Joseph and Bridget adore her. They are growing up with a deep appreciation for the unique qualities of everyone they meet without judgment. They have learned lessons of compassion that take many of us a lifetime to grasp and they are in constant awe of their baby sister. They still get excited when she laughs or makes a silly expression.  A living example of pure genuine love, Brianna has blessed our family in more ways than we even know. I cannot even imagine what our lives would be like without her.

Being Brianna’s caregiver has definitely been life altering. I am learning to navigate through the mysterious labyrinth of healthcare and special needs services. Keeping up with binders and notebooks laden with doctor appointments, health insurance denials, appeals, and progress reports is all consuming. Every piece of equipment is incredibly expensive and health insurance is not quick to approve anything. Brianna’s wheelchair alone was the cost of a small car and insurance paid only half. From the bath seat that I am awaiting for the insurance to approve, to the handicapped ramp that we must install, she has many needs that I must advocate for on a daily basis.

The children and I now live with my father in South Plainfield, NJ, as my marriage could not endure the years of enormous stress that followed Brianna’s diagnosis. My father is overjoyed to have us though and loves being able to experience the wonders of life through the eyes of his grandchildren.   I am working to connect with other mothers of children with special needs. Reaching beyond the walls of isolation that we are so often confined within as we care for our special children is a challenge.

I myself find that it is unbelievably difficult at times. The anxiety and depression that surfaced during my darkest moments forced me to look deep within myself to find a strength that I did not know existed. I have learned to ask for help and to accept it when offered. I have found a deep sense of inner peace and joy by trusting that it is all in God’s plan. I no longer have to feel alone and now live a life of gratitude for every experience, every joy, and even for the lessons I learned when my heart was broken. Although giving up is so tempting, it is not an option. I am Brianna’s advocate. I am her voice.

I still mourn at times for the child I had dreamt that Brianna would become, but I have eternal gratitude for the truly extraordinary person she is. Brianna has become my greatest teacher as I have learned what the meaning of true and unconditional love is. She has touched all of our lives in ways that I could never have imagined. She is the most incredibly challenging yet the most incredibly amazing gift that has ever been given to me and she touches so many lives just by being here. I know that Brianna and I have a long journey ahead of us and that it will not be an easy road, but I also know that it is not about the destination. I cherish each small miracle along the way because Brianna is a miracle. She is my little love, my special Angel!

 

 

Leave a comment