The Two Words That Saved Me

It was a Thursday evening in early June. I was working late.

My husband unexpectedly called me at work. His voice was anxious and rushed. “The pediatrician called and left a message. He called at 7 pm, no doctor calls at 7 pm. I need you to call him back, they must have news.”

Our son was going to be two years old soon. In less than two years our son had been to 14 different doctors and specialists. Neurologists, plastic surgeons, geneticists, dermatologists, urologists had all examined our son. He had visited the early intervention clinic, the sensory and audiology clinic and attended private physical therapy and speech therapy classes. He had an EEG, an MRI, cranial X-ray, abdominal ultrasound, and was being followed by the Stollery Children’s Hospital in Edmonton and the Alberta Children’s Hospital in Calgary.

I took a deep breath, and immediately returned the pediatrician’s phone call.

Without any greetings, he calmly and simply said, “Your son has Angelman syndrome.” Then he said, “He may never walk, and he may never talk.” My response was, “How do you spell that?”, as I had never heard or read these words before. As I jotted down these words on a pad of paper I lost focus. My stomach dropped and nausea swept through my entire body.

It was a sucker punch, that was delivered through words, not physical aggression.

I was floating in silence. I was lost. I think I called my husband to pick me up. I then started the online search for those two words: Angelman syndrome, then Angelman syndrome life expectancy, Angelman syndrome causes…

A sense of calm slowly entered my body and my stomach settled.

We finally knew! We had an explanation! We had a diagnosis!

For 715 days we wondered what was wrong with our son. It started with low Apgar scores at birth, then he did not latch properly to feed, then when he did feed, he would vomit, then he choked on baby food, then he wouldn’t roll over, then he wouldn’t sit up, then he wouldn’t crawl and he – did – not – sleep. The other babies progressed and ours stayed the same. He was awake, he was happy, he was laughing uncontrollably, he would choke, the ambulance would come. Now we knew why. He was not sick, he was not going to die, we were not incompetent parents. Our son had Angelman syndrome.

These two words changed our life forever. These two words also saved us.

Since the diagnosis we continue to move forward. We are no longer alone in our grief. We have found doctors who have studied this rare disorder. We attend conferences and we meet families just like ours and we share stories together. We educate teachers, doctors and the world about Angelman syndrome because we strive for the most fulfilled life for our kids, a life in which they are included and celebrated. February 15^th is International Angelman Day. To learn more about Angelman syndrome please visit www.angelmancanada.org or www.angelman.org.