I first saw a speck of white emerge through the top of my son Liam’s gums sometime after his first birthday in late March. Most mothers look forward to the first tooth, a sign of healthy development and a chance to finally feed the baby solids and try new adventures. As the tooth pushed through in the shape of spear, my heart sank into my stomach. I hesitate to say I shed tears, but not of joy. A deep sorrow sprang forth because I could no longer deny my son really was affected by Ectodermal Dysplasia.
When the call came in from the doctor on the eighth day of my son’s life, he slept quietly in his crib while my husband and I took in the news. At 10:20 am, a bitterly cold February morning in Illinois, the diagnosis came. Our baby boy, Liam, received my affected X chromosome of a condition called X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED). In short, my son had the same rare genetic disorder I did. The one I, as a carrier, gave to him.
I bit my lip hard to choke back tears, but they fell anyway. Hard and fast they streamed down my cheeks until I hung up the phone and turned to my husband. I spoke these words straight from my heart, my gut, my soul.
“I just hoped, prayed, for him to be normal.”
All the hopes and dreams for this one goal were lost in the moment of his diagnosis. My greatest fear come to life-that I would be the one to knowingly pass on a gene that will affect not only him but can be passed down to his children on his X chromosome in the future. Generations could be impacted by my decision just to have Liam.
The condition itself is not life threatening, but it is life altering. Children who are born with this disorder either lack or have very few sweat glands, grow fewer or no teeth, deal with respiratory, sinus, skin, hair, eye and other issues. Anything associated with the ectoderm can be affected and each child born with the condition manifests the symptoms differently. There was no way to know whether Liam would be mildly affected (like myself) or would struggle to eat because his sinuses blocked up constantly or might fail to gain weight because he could not retain body fat.
The weight of the genetic test results rested heavily on my chest like an anvil, landing square on my chest. I struggled to breathe for a moment because I realized what was next. During pregnancy, I was aware he might be affected. If he was, we planned to enroll him in an ongoing clinical trial taking place called the EDI200 protein therapy trial which required a 24-hour turnaround for us to pack up our things for 3 weeks and move into a hotel next to St. Louis Children’s Hospital. My son was required to stay in the NICU to be monitored, studied, poked and prodded.
One minute, I was home with my baby in my arms. The next, I was delivering him into the arms of NICU nurses inside the summer wing of St. Louis Children’s Hospital. The decision to have him and his subsequent diagnosis changed the entirety of the birth experience. Regret, shame and loneliness became the lingering emotions filling my mind following his admittance to the hospital.
I remember standing over his crib in the NICU. I watched his sweet, angelic face and imagined his future, away from the windowless walls and into the sunlight. I could not take him away from there in that moment, but I tried to hold presence as much as possible to avoid thinking of leaving each time I had to return to my hotel room without Liam.
The future I imagined for my son changed with his diagnosis. All the things I experienced like bullying, hazing, hateful words and sideways glares from both children and adults lingered in my mind. I pondered why this sweet little boy was going to experience the pain and tears that came with feeling ostracized, pushed aside because he was not like other ‘normal’ little boys. On numerous occasions I screamed out at the top of my lungs asking God why he could not be born ‘normal,’ and why he must carry this diagnosis in his DNA, in his lineage.
I never received an answer to my fist raised high to the sky in a mother’s rage. I came to understand over the past year why some things simply happen that we are not meant to understand, only make the best of, in this life. Some deeper truths emerged from this so-called existential moment of questioning, longing, and desire for answers. My mother let fear take hold, of the outside, unknown world that was cruel. She also perceived my diagnosis with limitations rather than limitless possibilities. Looking at my son through a new lens, I see more clearly now. I could choose to continue the legacy of fear and shame around his condition or I could change the narrative. Liam needed opportunities and choices to fulfill his life’s purpose. It was not my job to make those choices for him based on the choices made for me.
Liam’s story is still unfolding. Some will be accepting of who he is and others will rebuke him. The hardest part of being a parent, I found, is the gradual, continual process of letting go into the world, into a story that is still being told, often without our input. I can choose to release myself of residual guilt and shame around passing on my genetic condition to my son in exchange for something more powerful.
Freedom. To live a different story, one where Liam is called into his uniqueness only having a rare genetic condition gives. A chance, a choice, to help others on the same path we are navigating now. We can be a beacon of hope and light to restore despair to hope, shame to glory. In doing so, Liam’s real story, and journey, can continue to grow into the person he will become, rather than the one I shaped for him.
Beth is a writer, coach and healer who believes we each have a unique story to tell. Read more about Beth on her website, B: Creative Coaching.