Saturday, 16 February 2013

The realization

Biology Notes: Nerve Cell
I had an excellent biology "A" level teacher but for some reason I couldn't get my head around genetics. So I took the week off school and researched the subject in my city library. By the end of the week I had a folder full of carefully written and illustrated notes (I've shared a few of these illustrations in this post) and a solid knowledge of the subject that I never quite forgot. Looking back at these biology notes from 1976, they were somewhat prophetic. The way I acquired that knowledge became my first research experience. I now research for a living (don't we all). 

Returning to 2012 ... the day after I learnt about RTS, I used my research skills and a Web browser to get my head around Rubinstein-Taybi Syndrome. The browser hit on a Book for Families published at This document described many of the common symptoms of RTS. I remember that sinking gut feeling as I realized Maria exhibited many of these traits. Printing out the article, I used a yellow highlighter pen when I recognised familiar signs.

Later that evening it was my turn to bring home some articles. The tables had turned somewhat; now I was the one convinced Maria had RTS and Joan appeared sceptical.

 I read to Joan paragraphs from the Book for Families; she noticed the words I'd highlighted: "feeding problems including vomiting and swallowing difficulties", "tear duct obstruction", "Severe constipation", "Broad thumbs", "moderately retarded range", "speech delay", "articulation problems", "sign language", "rocking, spinning" and "short attention span".

Biology Notes: Maize Seed
The Book quoted an RTS parent: "Kurt is a happy, energetic little boy with a big heart and strong spirit. He thrives on attention and his smile makes everyone feel good. Kurt loves to hug, touch, feel, manipulate - he needs lots of hugs, stroking, and reinforcement. He always has a smile for everyone and has touched the hearts of many. ... Kurt's ability to tell us what he wants with signs has helped tremendously and has reduced his frustration level a great deal. He understands and can do a lot more that people think he can". 

It was this paragraph that really drove the point home for me. It was like taking a photograph of Maria; the description was unmistakable. Nevertheless Joan was unwilling to succumb and wanted to wait for the geneticist's conclusion. 

The following day was the start of a new week. I was in a daze for most of it, feeling emotionally numb and with a million questions unanswered. Only a few weeks before I'd been wondering what Maria would grow up to become. Now I had no idea what to expect. This was the time we really needed some professional help; somebody who was an expert in RTS and could give us a prognosis. We soon came to realize that most professionals hadn't even heard of RTS.

Biology Notes: Frog Life Cycle
That week we retracted into our  shells and avoided the subject. That week when we really needed one another, we were no help to each another. Joan's faith in Maria made me feel guilty for placing my faith in the paediatrician and not in Maria. Joan preferred to continue believing that Maria was a normal girl and that nothing had changed. 

Like it or not, my own perception of Maria changed. Looking back, I now realise I was mourning the loss of the old, normal Maria. I started a short period of grieving in which I adjusted to the new, special Maria. 

By the end of that week, I'd managed to accept Maria as she was. Realism had set in. Maria was still Maria but it was I who had changed.

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