Where Our Story Begins: An Introduction to ‘Raising an Angel,’ a Column by Mary Kay

Where Our Story Begins: An Introduction to ‘Raising an Angel,’ a Column by Mary Kay

Words a doctor should never say to a mother: “Have another child and be happy.”

What does he mean by this? What about this child? What can be done for her? He said, “She will never walk or talk, just love her as best you can.” All I could muster to tell myself was, “We will just have to prove him wrong.”

I’m sure this developmental pediatrician felt he was being compassionate. However, this was my first child and I was at this appointment alone. My husband was at work, our family lived a couple hours away, and none of my friends were local. His words cut me to the quick. That night, before my husband returned home, I sobbed so hard, my eyes nearly swelled shut with the tears. I was devastated. How could there be anything so seriously wrong with my daughter?

The doctor diagnosed her with idiopathic cerebral palsy. In my gut, it didn’t make sense. For the most part, my pregnancy was typical. I suffered from sciatica, but this isn’t something that affected her. It just kept me from going to work because I could not sit without pain. As soon as Jess was born, I looked over to the table where they were examining her and she raised herself off the table onto her hands and knees. I didn’t know that this was a sign. Looking back, I feel that a higher power was making sure I was getting extra rest — because I was going to need it.

Being that Jess was my first and only child, I was very naive. The most popular baby book at the time was “What to Expect When You are Expecting” (which I tossed somewhere between her second and third birthday). Initially, Jess was making milestones, though they were late. When she attempted to crawl, she found rolling to be more efficient. She was barely a year when she pulled herself up along the couch. She cruised along it for over a year before letting go. At 18 months, Jess said her first words, “This is good.” As soon as she spoke, my brother said, “I heard that!” The words were clear as a bell. We were having pizza and that is what I always said after my first bite. Over the years, Jess said nearly 100 words. However, for all intents and purposes, she’s non-verbal. When Jess was 22 months old, she took her first independent steps. Not one, or two, but 10! Even though she was making strides that little voice in the back of my brain repeated the doctor’s words.

Once the idiopathic cerebral palsy diagnosis was made, doctors and schools didn’t question it. Though the doctor was right that Jess was significantly challenged, he was wrong about her diagnosis. It would take us 13 years to learn that Jess had Angelman syndrome.

It was a blessing in disguise that we did not get the correct diagnosis. I read about Angelman syndrome when Jess was a toddler but it didn’t seem to fit her. I didn’t understand the concept of the word “spectrum.” The labels developmentally delayed and autistic where whispered by teachers but no one knew enough to understand what was really going on with Jess.

misdiagnosis
(Courtesy of Mary Kay)

Our first neurologist ran genetic testing with no definitive results. Based on all the errors this doctor made, I question that she even ran the blood work correctly.

I say not knowing was a blessing because no one knows what a child’s potential is. Labels may define but they limit us. It seems no one can be any more than their label. If her school had known any sooner, I’m sure they would have changed Jess’s educational path. As for the Angelman syndrome websites, they give little hope. They need to do a better job of explaining that Angelman can manifest differently and no two Angels are the same.

This is just the beginning of our story. There are so many things we have learned, lessons that should be shared with other parents, and stories doctors should take into account when they are dealing with Angelman families. Motivation is the one thing they cannot test for. We presume competence with typical children and it’s imperative that we treat children with challenges the same way. I hope to change this way of thinking.

To read more about my journey, visit my blog and check Angelman Syndrome News on Fridays for my upcoming columns.

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Note: Angelman Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Angelman Syndrome News, or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to Angelman syndrome.

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