It’s been nearly six years since our daughter was diagnosed with a terminal condition. It feels like yesterday.
NINE YEARS AGO
He wrapped his tiny little fingers around mine and I feathered kisses across his forehead. Yesterday the phone call had finally arrived along with a frantic husband on the other end spurting out sentence fragments, “Boy! Ours! Five weeks old! Yes?” In just mere hours we were ushered into the back room and waiting for him to be brought to us. Books in stacks some with dust, paper plates and plastic silverware the only remnants of some social gathering, a big wooden conference table, and many chairs littered the room. This did not look like a place where miracles happened, but on that day in May 2007 they did. That was the day we met our son.
We are parents!
It was just another day filled with me pinching myself to make sure that this wasn’t just a dream that I had longed for. I peaked in on his bassinet and kissed his beautiful brown forehead. I left him with my dozen kisses napping in his bassinet by our bed to fold his tiny clothing, and when I came back twenty minutes later he was not breathing. “Breathe!” I squealed at him while simultaneously beating on his back. His sweet brown skin was turning ashen and he quit squirming. “No!” I yelled and blew air at his face. It was only moments, but they seemed to stretch to eternity. Finally he gasped for air. Clutching him tight to my chest, I tore through the house, across the yard, and to our next door neighbor who was a nurse.
“He quit breathing!” I said with more restraint than I truly felt.
A few hours later it was determined that “B” had severe GERD (Gastro Esophageal Reflux Disease.) He was “spitting up,” aspirating it, and would stop breathing multiple times a day. That is how we spent the first year of our life as a family of three. We seriously considered making holsters for our bulb syringes and our reflexes became swift and efficient. It was at that point I realized this child was going to give me some serious gray hair, but every minute with him was one we relished.
The First Two Years
Family vacations, first milestones, and falling so desperately in love with each passing day, we watched One grow strong. He hit every developmental milestone on time. He took his first steps at the Hall of Presidents at Walt Disney World. We took it as a sign that our son was destined for great things. Around the time One turned a year and a half old, we stood in front of our local judge and vowed to love him until the day we died. It was the easiest promise in the world to make. I know with absolute certainty that he is the child I was destined to have. Standing on the courthouse steps for a ceremonial picture to honor the momentous occasion, we walked down the steps and off on to our next adventure as a forever family.
Our oldest and our adventures kept us running in circles. His boundless energy, exuberant smile, and generous affection made everybody that came in contact with him fall in love. His eyes light up with such joy!
Yet somewhere in the dark recesses of my mind, something was just not right.
Some call it Mother’s Intuition. Despite being a very early teether, One was drooling at eighteen months. He had been walking since he was nine months old, but he was still unsteady on his feet nine months later. We couldn’t put our finger on what exactly could be going on, but we figured he might need to be checked out. In our hearts we had hoped that we were just new parents being overly observant of our little man. Yet, coming from a big family, my head thought otherwise.
Our first thought was to bring him to an ENT. Perhaps there was some inner ear issue causing his unsteadiness. I sat patiently waiting while the doctor looked into his ears. “Clear. Clear on this side too,” he said with a pause that could fill the room.
“Hmm, I would bet my career this is neurological,” he stated.
In my mind, I hoped with all I had that that wasn’t the case. Our next appointment was with a pediatric orthopedic doctor to check One’s muscles. The only muscle that was having an issue at that point was my heart. Resting his chin in his hand and swaying side to side, he told me he too believed this to be a neurological condition. I cried that night.
It was becoming increasingly clear that there was something going on with our sweet boy.
Some things you never forget.
We waited hours to see the pediatric neurologist. He observed One with a keen and knowing eye. “I think I know what I am looking at but we need to run some more tests,” he began. “Thank goodness!” I said with enthusiasm that could rival a three-year old being told she could eat an entire gallon of ice cream. We left with a script for an MRI of B’s brain and were sent down to the lab where eleven tubes of his blood were drawn. I nearly passed out cold while my son sobbed and begged them to stop while promising to be good. My insides twisted with just how hard this journey was becoming.
I was unaware of just how our lives were to change after that day but I would soon learn.
A Terminal Diagnosis
It is never a good sign when a specialist wants to see you back in their office quickly, but out of self-preservation, I convinced myself we got lucky with a cancellation. The day after our office visit the neurologist asked if we could come in the next day. We thought it was quite strange since that was the day, a Friday, we were slotted for B’s MRI. What could possibly be that urgent? We shrugged it off as a scheduling issue with the office and agreed to come in on Monday. We sailed through the MRI with only minimal pacing and tears. Our hopes were high that whatever was happening within our son that it was something that would be easy to fix and that this would all be just a small memory.
Monday came and “B” was very excited as we promised him a trip to the zoo after his appointment. We were quickly ushered into a room and left with a, “The doctor will be with you shortly.” We read books, sang songs, juggled strollers, and colored. A not so short time later the door opened and the doctor walked in followed by a nurse.
It was in that very moment that my stomach plummeted to my feet.
Neither looked at us directly and I forced a smile for B’s sake. I handed him the board book we had been reading, and looked at the doctor waiting for him to say something…anything. “Well, we know what is wrong,” he told us. “Thank goodness!” I said. “No. You really don’t…Well, this isn’t…What I am trying to say is. One has Ataxia-Telangiectasia.” I’m sure I wrinkled my forehead as it is a diagnosis I had never heard of and knew nothing about. That was about to change.
The information that came next was so overwhelming that everything inside of me went numb. My heart raced, and I began to sweat.
“Rare, progressive, terminal,”
the words all hit me like a ton of bricks, the weight of them crushing me. I blinked and fidgeted. I started to shift uncomfortably and just nodded my head. I vaguely remember him handing me papers. I had no clue what was on them. He asked if we had any questions and all I could say is, “We are headed to the zoo now.” I smiled at One and was careful not to look at my mother who had come in my husband’s stead. I knew that this day was one I would never forget. My heart wouldn’t ever allow it.
Nothing will ever erase the memory of standing in that long corridor and calling and breaking my husband’s heart with this news. I can still smell the cleaner used on the floor, feel the cool of the pillar that held me up, and the smile on my son’s face across the crowded atrium. There he sat so sweetly in the wagon excited to go see the animals. I turned my back and closed my eyes while my husband’s voice cracked on the other end of the line. My words came out in strangled hiccups making little to no sense through sobs. Completely unaware of my surroundings, I broke down and shattered into a million little pieces. This was really REALLY happening.
We chose to set what was going on aside and still take “B” to the zoo. It felt like the right thing to do. We sent out texts to those who needed to know, and waited for my husband and father to make the hour and a half drive to meet us. It all seemed so surreal. I really had thought that whatever was going on was something simple. There is nothing simple about B’s medical condition. We spent that day living and knowing putting off learning until tomorrow. Our goal that day was just to survive it. We spent that day in pure disbelief.
What is this condition?
For the first two months I cried myself to sleep. We learned that Ataxia-Telangiectasia (A-T for short) is a combination of all the symptoms of muscular dystrophy, multiple sclerosis, cerebral palsy, cystic fibrosis, and immune deficiency into one condition. It all felt so overwhelming. That is definitely an understatement. The mourning that followed was deep and intense.
All those dreams I had for my child that I thought about while rocking him to sleep at night as an infant vanished in a blink of an eye. The milestones that I had taken for granted that he would achieve became uncertain, improbable, and some impossible.
“How am I going to raise a child I know I will bury?”
I cried to my husband. He just held me, because there was nothing either of us could say to make this better.
The answer was and still is, “One day at a time. Sometimes one hour, one minute, or even one breath at a time.” We continuously have to come to terms with what becomes our new normal. We have adjusted to an inhaler, nebulizer, percussor, hospital bed, suction machine, cyclical vomiting, a walker, chest physical therapy, a feeding tube, motorized wheelchair, losing the ability to drive the chair and needing a push chair, occupational therapy, physical therapy, and speech therapy, immunoglobulin therapy, full body tremors, oculomotor apraxia, dysphagia, apraxia of the tongue, shortening tendons, heat intolerance, short-term memory loss, incontinence, and crippling fatigue.
With each new hurdle, we must become a little bit more brave and strong. Our child knows what’s happening but never complains. We will never come to terms with the fact that we will lose our child, but we have since shifted our focus to making every single day count. We focus on what we can control. We cannot control what his medical condition is doing to his body, but we can help him focus on what is within his control. Life continued to move on for us as a family even if it looked vastly different from we expected it to.
Preview of Part Two: The Hot Button Topic We Never Wanted to Be
It took four long years of yearning to become parents. There is nothing I cherish more than my children. So when my tiny son came into my bathroom and said, “That’s it! I’m cutting this off!” in reference to his genitals, I began to take what I thought was a phase very seriously. I got down to my little guy’s level and looked into his puffy eyes and told him we wouldn’t be cutting anything off that day or any other day for that matter. I also made an emergency call to our therapist to discuss the new development.
You see all of our children go to therapy. It was a decision my husband and I made after One was diagnosed. We never wanted them to feel as if they needed fixing. Instead we wanted to have another steady and stable adult they can trust with the things they may struggle with.