Our story began with that terrible cliche with which most tragedies start, and most comedies end: love. We met in college and instantly became friends. Over the next four years our friendship turned into the kind of romance written about in epic tales, and a connection so deep, so profound, I had no idea what I was beginning to experience.
Though very young and not quite ready for a huge change at ages 22 and 23, when we discovered we were expecting a child, we embraced the stroke of fate and charged ahead with cautious optimism; with faith that we would be able to successfully navigate the waters of our new adulthood and raise our child simultaneously. And even though neither one of us had lived on our own for very long, we believed that our bond was strong enough to create a stable family life together. Neither one of us could have predicted the perilous journey upon which we were about to embark.
We had a wedding, and aside from my constant nausea nagging me about our impending fate as parents, it was a joyous occasion. I had anticipated that day coming to fruition for a long time, and the fact that it was really happening overshadowed its unexpectedly premature arrival. After the wedding, we found a rental and began our new life together.
There was an adjustment period, as I am sure there is with all new married couples learning how to both care for themselves and live civilly together, with the added stress of a new member of our clan on the way. He worked, and I finished my education as best I could with my still constant nausea and other common pregnancy complaints. Looking back, it was a walk in the park compared to the challenges we would face in the following years.
I went into labor during a final exam in Statistical, Mechanical, and Thermodynamic Physics. The contractions were fifteen minutes apart, so I finished up my exam, calmly walked myself to my car, stopping to rest during each contraction, and drove home to get my husband. We headed to the hospital and after a grueling half day of labor, Jack finally came into the world. When the doctor pulled Jack from my My nausea immediately subsided, and I was able to lay a single kiss on my baby boy’s forehead before the nurses rushed him away to check his vitals and clean him.
Jack appeared to be a healthy newborn baby when he arrived, but the doctors realized only minutes after his birth that he was having breathing problems. After a few hours of waiting to see my baby for more than a second, I was informed that he needed to go to another hospital that had a neonatal intensive care unit, and I wouldn’t be able to touch him or visit him for at least a day. They wheeled Jack into my room and up to my hospital bed in what looked like a plastic aquarium. There were wires and tubes coiling out of his nose, mouth, and umbilical cord. I got to look at him for a few seconds before he was rushed away to the NICU about a half hour’s drive away.
During Jack’s stay at the NICU, the nurses soon discovered that he was less than happy to be there. He cried. All the time. And crying is an understatement. If he wasn’t napping, he was screaming at the top of his lungs. He screamed during feedings. He screamed for hours after eating, until his poor body couldn’t take the stress anymore and he finally fell asleep for one or two hours at most, after which he would resume his wailing. Normal babies don’t do this. Normal babies sleep a lot and eat without too much fussing. The doctors knew that there was something wrong with Jack. The question was: what?
After three weeks of testing, brain scans and ultrasounds, neurological exams and interviews with we the parents, Jack was finally discharged with a diagnosis of a “possible” hypoxic brain injury. This is something that happens when the fetus or baby is starved of oxygen for a long enough time to cause brain damage. In Jack’s case, the tests were so inconclusive that the doctors assumed if he did have a brain injury, it was very minor. It was the only possible cause they could see for why he would be so irritable. They thought he should develop normally; but as a precaution, Jack was followed by a neurologist from the time he was discharged from the hospital. We had no idea that he would be seeing a neurologist for the rest of his life.
After Jack finally stopped his nerve-twisting, sanity-destroying screaming, which was about six weeks into life, he became a much more pleasant baby. We felt relieved that he seemed to be calming down and I personally felt positive that he would develop as he should and we could forget about the horror of his birth and initial diagnosis. We had a few months of peace. But by four months of age, the neurologist informed us he was not meeting his milestones as he should, and Jack was started in an early intervention program. We implemented a daily regimen of physical and occupational therapy with weekly home visits to try to catch him up to the level at which he should have been developing.
Early Intervention programs are marvelous. They were created upon the idea that the young brain is very malleable and by working with a child with deficiencies from the earliest age possible, the brain finds ways around its deficiencies to allow the child to develop as closely to his or her normal peers as possible. Though this is a wonderful system that works miracles with some children, it can only do so much. Jack continued to fall further and further behind his peers. The brief moment of peace we felt quickly spiraled into a waking nightmare. There was something very wrong with our child, and we no way to deny it any longer.
At age one, Jack’s neurologist diagnosed him with cerebral palsy. Cerebral palsy basically means an individual had some sort of brain-altering injury, or has an yet-undiagnosed developmental issues that causes problems for their mobility, ability to care for themselves, speech and language, and cognitive ability. Some of Jack’s symptoms seemed to fit the CP diagnosis: not being able to sit up or crawl, not being able to feed himself, and seeming to have a normal social ability. The pieces that didn’t fit were Jack’s complete lack of babbling or anything resembling a precursor to speech, his extreme sensory issues (like those that children with autism face), and his extremely happy demeanor.
It wasn’t until Jack was two and a half years old that we were faced with the possibility that Jack was misdiagnosed. At that time, Jack has just learned how to sit up on his own after two and a half years of regular therapy plus a trip to Toronto for a week of intensive therapy sessions. By that age, most children have been sitting up for years, and are even walking, talking, and feeding themselves. Jack resembled a six month old baby in his motor abilities, lack of speech, and inability to feed himself.
A new behavior had cropped up in his regimen that we though might be seizures. Since the neurologist had never seen one, she couldn’t confirm or deny that the episodes he was having were seizures. So I did what any mother who had grown up with the internet would have done: I filmed the episodes and put the videos on YouTube, asking parents to comment on whether they thought his episodes were seizures or not. The videos got many responses, most of which confirmed our suspicion that the episodes were seizure activity. One day I received an email from a mother, who urged me to look up something called “Angelman Syndrome”. She thought Jack might have this rare genetic condition, which she knew of because her own daughter suffered from it.
When I did a Google search for “Angelman Syndrome”, I clicked on the first site listed in the results, and I was floored. The site was for the Angelman Syndrome Foundation, a national organization dedicated to education, support, and research of the rare condition. What floored me was on the home page was a photo of a father with his young son sitting upon his shoulders. The boy was probably around three years old, and had an unmistakable face: he looked exactly like Jack. I was shocked. I knew this wasn’t my child I was looking at, yet I was staring right at his face. With a rush of adrenaline, I immediately continued my Google search and found more and more photos of children who looked very much like Jack, or like an imaginary sibling of Jack. Minutes later, when I finally found the videos on YouTube of other children with Angelman Syndrome who looked like his little brothers and sisters having the same type of seizures he was having, I knew without a sliver of a doubt that this was Jack’s affliction.
I had to convince Jack’s pediatrician to order the genetic testing. He found it very unlikely Jack would have both a brain injury and this genetic condition, never once considering the possibility that he was misdiagnosed as an infant. Luckily, despite his doubts, the doctor ordered the testing. A couple months later the geneticist called me to tell me the results: Jack had Angelman Syndrome.
It might sound funny to hear, but I was elated. I felt as though a cosmic miracle had taken place. For two and a half years I had agonized over the possibility that I had done something wrong while pregnant or during labor, that had caused Jack’s disability. I suffered under a tremendous weight of guilt and depression for two and a half years, and suddenly, it was all lifted from me. Jack’s pediatrician was surprised.
Jack turned 7 on April 6, 2013. He has made incredible progress since his diagnosis, but is still very disabled. He cannot walk by himself, feed himself some of the time, toilet himself, dress himself, talk, or use any other form of communication system. For the last three years, we have been working on our goal of building an accessible house to live in, with wide hallways, wheelchair ramps up to the entry doors, and an accessible bathroom. We have made it our goal to build a house that Jack can live in for as long as he needs to, that is appropriate for his level of care and ability, whatever that may end up being.
Life. Love. Craft. 