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Leanne’s Story – Born with Rubinstein-Taybi Syndrome - Part 1

Posted Sep 30 2009 10:23pm 1 Comment


Leanne's story is one very close to my heart – she is my sister. She has lived with my parents since she was born and I asked my mom to share what it's like to care for a disabled person.

Tell us about Leanne's birth

Leanne was born December 29, 1966, by Caesarean section and weighed 6 pounds, 3 ounces. This was in Zimbabwe. She was tiny but wide awake, always wanting her bottle and appeared fine apart from her thumbs which were turned outwards. From day one she seemed prone to vomiting and consequently did not gain weight. At six weeks I had to take her to a specialist for a check up and it was when he measured her head that I began to wonder about retardation.

What was Leanne's diagnosis?

Leanne 1

I found that the doctors had advised against telling me until I was stronger - and then no one uttered a word to me. Her condition is known as Rubenstein-Taybi syndrome and it can range from very severe to very mild. Some children are unable to speak; others have no feeling - they could put their hands in fire and feel nothing. Rather than feeling sad when I was told, I was challenged, particularly when the specialist said she would be "totally ineducable". Years later I found out that the Prayer Healing Group at my Church had prayed for her weekly, knowing there was a problem, but not knowing any details. This continued over some years.

How does this affect Leanne?

Leanne is a moderate case with an IQ in the 60s. She talks well and reads with comprehension. Her writing is poor but her spelling outstanding. Muscle tone is her greatest problem. Her thumbs were broken and straightened when she was very small and while not perfect, they look better than they were.

Did Leanne go to school?

When she was three years old it was suggested that she go to a school for the mentally disabled. A bus picked her up from home and returned her in the afternoon. At that time Leanne was not toilet trained and could not walk. She seemed reasonably happy there but as her mother, I was not. She had already made it clear that she was going to be extremely difficult to feed and hated meat and vegetables. The school insisted on forcing it down her and she often vomited it back, either there or later at home. After a year or two, a teacher who knew my father, said Leanne was in the wrong place and that I should move her. That was all I needed to hear!

How did you find the right place for Leanne?

After many inquiries she was accepted into a small play group. Although she was at least two years older than most of the children, she was small and did not look out of place. From there she progressed to a nursery school and then the school psychologist tested her and put her in a normal school for two years. From there she went to a private school and coped well up to the end of the fourth year of schooling. She was not able to do sport and did not walk well but held her own. Then she moved to a large primary school which had two special classes for slow learners. She remained there until she was 13.

From here, she moved to a special school where she spent the next five years. She learned well and enjoyed the school. At 18 she had to return to the school she originally went to at age three, but this time in the adult section. There was little work to do, most of which Leanne could not manage. For the next three years she broke foam for cushions and picked up a lot of bad language. At that stage we moved to South Africa and in her new home town she joined a sheltered workshop where she worked for the next 20 years. She was extremely happy there with work she could manage and made lots of friends.

What challenges have you faced living with Leanne?

Leanne 3

As far as the challenge of living with a disabled person goes, I guess it varies from extremely difficult to a situation one can cope with. We are fortunate that Leanne is not really difficult to care for although she has limitations. She is fully dependent on us as parents to care for her. If hungry she can help herself to a drink from the fridge, or a piece of cake, but cannot prepare food as such. Her poor muscle control means she needs to have someone holding her hand when walking (not at home) especially on uneven ground. She needs help to get into a bath or shower and cannot fasten her bra. Otherwise she dresses and undresses without help.

Of course she has to be considered in every situation – where we go – what we do - but we have grown used to it and accept that there are times when we are unable to do what we would like to do because of Leanne. I cannot say looking after her is frustrating except on the odd occasion when she wakes in the night if she is ill. At my age I am just too old to get up at night and change sheets etc - yet if it happens, I do it as God gives me the strength.



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Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals: I hope it helps. Thanks, AccessDNA
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