Heartbreak and Joy

One motherís journey parenting a daughter with a genetic disorder.

When our daughter was diagnosed with a rare chromosomal syndrome at 3 months of age, our geneticist  ushered us out of his office with words I will always remember. He said, “Like any child, Emily will bring you joy and heartbreak.”

Given the severity of Emily’s condition and our complete lack of preparation to be parents of a special needs child, we felt certain that the joy would be hard to find. And although the search for joy took us on an arduous journey, one indeed filled with abundant heartbreak, we did discover joy along the way, more than we had ever expected.

Emily’s diagnosis was Partial Trisomy 13, a genetic mistake made at the moment of conception. An extremely rare condition, only 50 documented cases of Partial Trisomy 13 exist worldwide. The extra genetic material attached to Emily’s 13th chromosome results in physical and developmental anomalies. By age 2, my daughter had endured heart, abdominal and kidney surgeries. She had difficulty feeding and was a cranky, fussy child. Days spent with my daughter were long.

But Emily’s pervasive developmental delays, cognitive deficits and behavior challenges— those elements that could not be surgically fixed— proved harder to bear. I found myself adrift in a sea of mixed emotions, managing well for a time, then fraying into sadness and resentment. I railed against the unfairness of the hand we had been dealt. Life as I knew it was over: Being a mother of a child with special needs would define me forever.

Without falling neatly into one category or another, Emily often stumped the medical professionals and therapists we saw. Like autism, Emily’s condition brought with it ritualistic qualities, such as hand-flapping and obsessive clock-watching. Like people with cerebral palsy, Emily’s body is stiff and awkward, although she is mobile. Emily’s communicative skills are poor, leading to frustration and tantrums. She is a hodge-podge of symptoms and behaviors.

Collectively, the teams assigned to work with Emily from her infancy through her school years committed to help make our daughter be the best little girl she could be. This approach, optimism in the face of uncertainty and pessimism, was one our family adopted as well. As time passed, I found that pain was not always my constant companion. The isolation of being a special needs parent ebbed away as I found strength in my daughter’s courage.

Progress was always made, even if at a creeping pace. At first uncertain whether she would ever walk, talk or read, Emily surprised us all by walking independently at 3½ years old. She began to communicate using an assistive touch-screen computer so that, despite her unintelligible speech, she had a voice. Emily learned to establish eye contact and began to smile and laugh infectiously. The phenomenal school system in our area brought teachers, aides and therapists into our lives who not only taught Emily, but also taught us. Hope became more prevalent and despair faded.   

However, make no mistake: Our daily life is hard and often fraught with frustration and worry. Emily requires constant supervision to keep her safe and to monitor her behavior. There is always pain when my husband and I observe what Emily’s same-age peers can do so easily. It is a constant battle to remain upbeat as each milestone birthday or graduation passes. Even so, through persistence and attempts at grace and humor, my husband and I have cobbled together a family that works, despite the underlying grief at our very center.

Emily gives back to us, and to all the people who are in her life, more than has ever been denied in the cruel, random blow of her disability. Therein lies the joy.

Tips for Coping With a Special Needs Child

  • Ask for help. When you need a break or some assistance, call on a support group, friend, babysitter, family counselor or spouse. You can’t do it alone.
  • Go easy on yourself. Every day will be difficult, and you won’t always be patient. No one is perfect.
  • Trust your gut. You are your child’s best advocate. You will know if a program, medication or therapy is the right one.
  • Make time for yourself. There is nothing selfish about self-care. Carve a moment out of every day just for you. This will energize you and make you a better parent.
  • Adjust your mindset. Try to focus on what your child can do rather than what he or she cannot.