Monday, 25 February 2013

Just one more thing ...

As parents, we had a ton of unanswered questions:
  • What causes RTS?
  • Is there a cure for RTS?
  • What should I know about RTS?
  • Will our daughter ever learn to speak?
  • Is there anything we can do to help Maria's development?
  • What therapies does Maria need?
  • Does Maria need any surgery?
  • Can Maria see and hear normally?
  • Why does Maria gorge and vomit?
  • What can we do to help Maria's attention deficit?
  • What are Maria's educational needs?
  • What is the best school for Maria: mainstream or special?
  • Should Maria be signing in Makaton or BSL?
  • Would Maria benefit from using pictures to communicate?
  • How should an RTS child be disciplined?
  • How will Maria cope when she gets older?
  • What at the legal rights of a person with Maria's syndrome? Will she ever vote?
  • Will Maria ever be totally independent or will she live with us for the rest of our lives?
  • What will happen to Maria after we die? Who will look after her?
  • Will Maria develop any nasty diseases or complications later in life?
  • How does Maria see the world? What are the limits, if any, of her understanding?
  • Maria is over-friendly to strangers; should we be worried for her later in life?
  • How will Maria's condition affect our other children? What do we tell them? 

The list was long and nobody seemed to have ready answers. 

It was frustrating to have all these worries gently placed on our shoulders, with so little help from the professionals. We were basically expected to work out all these answers for ourselves. It felt like we were the first family to have a child with RTS! 

Fortunately, as I read more research papers (sometimes paying up to $30 per paper) I managed to answer some of the questions for myself. 

Help!

Maria graduates with full honours
The medical professionals did have one trick up their sleeve; they were very quick to point-out there was a support group for RTS in the United Kingdom and we might want to get in touch. This turned out to be the only truly helpful advice they gave us in the end. 

We contacted the RTS UK support group in 2012 and went to our first event in June that year. The people we met very quickly became our extended family; they're the only people we trust to know what it's really like to be the parent of an RTS child. We appreciated meeting people who, like us, were still recovering from the shock; people who were still working out the answers and keeping their collective chins up.

The event gave us the chance to meet RTS folk of all ages and after our first meeting we felt relieved not to be alone in our confusion and grief; to have the moral support of such a friendly community was a necessity

After that weekend, Joan and I looked forward to the next event. This turned out to be in December 2012. This was good fun too and we found ourselves also invited to a Christmas dinner at Duxford Air Museum, hosted by American F15 pilots. Both Maria and Isabella received lovely presents from Santa and ran amok among the museums precious aeroplanes!

The RTS events gave us a chance to meet other parents, learn snippets of information, compare developmental stages and get recommendations on the latest iPad software.

At each event, Professor Chris Oliver and his research students at the University of Birmingham, UK, would turn up and report on their latest research findings in RTS. At the same time they would ask parents to volunteer their children for some research experiment. It gave us all a chance to participate in the process of better understanding RTS. Often, Chris would offer consultations with parents to discuss psychological aspects of RTS behaviour.

All in all, this felt like a much better way to help Maria but, at the end of the day, we still needed our questions answered in order to help Maria with her individual needs. 

The Geneticist's Code

Maria was three years and six months by the time we finally got to meet a paediatric specialist at our local hospital. I'd had five months to research RTS, so we were well ahead of the game and simply went through the motions of watching the doctors formally diagnose Maria with RTS. They too suggested a genetics test and took a swab of Maria's mouth and a blood sample. Another two months passed when we were invited to see the geneticist at another hospital. She was very pleasant and helpful but I still didn't get the impression she knew much about RTS, so we didn't receive any specific advice over and above what I'd read in research papers. Besides, they all knew I'd read RTS papers, so that got them off the hook having to explain details. 

We did get a copy of the molecular genetics report from the geneticist. It stated that Maria is "heterozygous for the nonsense mutation c.2773C>T (p.Gln925X) in exon 14 of the CREBBP gene", which confirmed she had RTS. Now even my "A" level knowledge of Biology couldn't fathom what "c.2773C>T" meant but I promised myself, for Maria's sake, to find out.

video

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 as part of my living (don't we all). 

Returning to the 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 www.rubinstein-taybi.org. 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. The week when we really needed on another, we were no help to one 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.

Tuesday, 12 February 2013

The Paediatrician's Code

Maria, hands-on

Until the age of two then Maria was a quite normal child; some of the stages were slightly delayed but nothing very unusual. It wasn't until she reached two years that we started to worry about her poor verbalisation (even though she was vocalising (babbling) a lot and clearly felt she was communicating with us). At two years and four months, Maria could say only three words ("car", "dada", "dog") at which point the paediatricians got worried. At this point I was looking for reasons for Maria's slow progress and wondered if she might be autistic; the paediatrician said she was much to sociable to fit into that category. So, the search for the cause of Maria's speech delay began.

Maria was about three years old when we went to see her paediatrician for another assessment. After a battery of tests the doctor concluded that Maria's delay wasn't confined to just speech but was "global". She didn't explain the implications of her change in terminology but I later inferred that "global delay" was a synonym for mental retardation in the medical literature. 

The paediatrician recommended Maria be examined by a geneticist. I nodded in agreement, keen to find a cause for Maria's speech delay. Once again, I thought no more about it. However, Joan noticed the body language of the doctor and realised she wasn't telling us the whole truth.

Then, about a week later, Joan returned from work (she's a nurse at the same hospital) and told me she'd bumped into that same paediatrician in the corridor and asked her what she really thought. The doctor told her she suspected that Maria might have a genetic condition called "Rubinstein-Taybi Syndrome" and pointed-out Maria's large thumbs.

That evening Joan came home from work armed with print-outs and told me all about her conversation and Rubinstein-Taybi Syndrome. Ignoring my instinctive association with Anton Rubinstein, the pianist, I queried sceptically "Rubinstein what?"

I read her print-outs incredulously and Googled an article on Wikipedia. Could these lists of symptoms possibly relate to our beautiful daughter? I looked at the photos and then thought of Maria. No way!

I rejected the doctor's diagnosis, particularly the interpretation of Maria's thumbs, reminding Joan of her joke about my large thumbs; but the articles I'd just read were too disturbing to ignore and I knew I'd have to do more research. 

Sunday, 10 February 2013

First time parents

Maria at five months
For the first two years we'd walk down the street and people would notice Maria and make admiring comments; we'd hear them as they passed. Some would stop quite suddenly and exclaim how gorgeous she was! We thanked them and walked on, feeling like we had the most beautiful child in the world. This became so common, I began to suspect we really did have a very special daughter on our hands. I even began to worry that she might be stolen; my first paranoia as a parent. 

It wasn't until Maria reached the age of two that we started to worry about the missed milestones, particularly speech. She was doing a lot of babbling and would rant for ages incomprehensibly. This became particularly obvious between the ages of two and three. The paediatricians described this as "expressive speech delay". Her receptive skills (understanding speech) were normal, which confused us even more! 

Our concerns really started when she reached the age of three but was still only babbling. We felt we needed to get to the bottom of this, despite the stories that friends and colleagues would tell us of their own children not speaking until the age of x (where x is a positive integer between three and five). We'd already tried every trick in the book to get her to speak. Maria was our first child, so we really weren't very sure of ourselves. Were we doing something wrong? Were we lousy parents? Everyone else seemed able to "teach" their children to speak - surely it couldn't be this hard!  

Our gorgeous firstborn

Welcome Maria!
We didn't know it yet but we stared Rubinstein-Taybi Syndrome (RTS) in the face as we admired our gorgeous firstborn daughter, Maria. 

In the first moments after birth, Joan and I were busy admiring Maria's thick black hair and worrying about whether the large red birthmark on her forehead would eventually disappear (we hadn't yet spotted the one on the back of her neck). 

A few minutes later  Joan noticed Maria's hands, which had quite broad thumbs. She joked that Maria had inherited her good looks and my hands; I examined my nail-bitten thumbs and shrugged. We thought nothing more of it. 

The birth of our first child was a truly magical moment in our lives. I'll never forget the wonder of bringing our much needed daughter into our world. She was gorgeous and we immediately fell in love with her. 

Thinking back a couple of decades, I thought I'd missed my chance to have children but now, even at the age of fifty one, I still felt up to the challenge.

By the way, none of the medical literature acknowledges that being born with a head of black hair is a feature of RTS. I don't know why because when you speak to parents of RTS children then you'll find it keeps cropping up. I suspect that Jack Rubinstein, Hooshang Taybi and all their successors have missed this one. I mentioned it to my geneticist but she dismissed the observation, saying that many syndromes have this characteristic. My immediate thought was that many syndromes feature "speech delay" but that isn't get ignored by the medics. What to do when they won't listen? The red birthmark on the forehead also falls into this category of missed observations.