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| Gorgeous Maria |
I mentioned Maria's gorging, choking and vomiting in an earlier post.What causes this is a bit of a mystery but we know it's fairly common in RTS children and seems to be connected with the CREBBP gene.
RTS children are typically below average height and some suffer from being overweight or obese. Chances are the overweight problem is down to diet but you have to watch the vomiting in case it leads to malnutrition.
As Maria gets older she's managed to control the choking and vomiting. We encourage this by reminding her to bite and chew her food before swallowing. We also point out when she has stuffed her mouth with too much food. She's making slow but steady progress in all these areas and her behaviour is much influenced by her peers at school. But it would seem she behaves differently at school than at home. For example, the school maintains they never see her gorging when she eats her lunch, whereas she does it all the time at home. Curious!
Maria has seen her opthalmologist twice now and they feel she has good eyesight. It helps that she can sign in Makaton when viewing the animal charts. She could even use the alphabetic charts if asked, as her knowledge of the alphabet and numbers up to 13 is very good. She can not only pronounce the sounds but can even recognise the written forms of the letters and numbers.
Maria's also visited her audiologist four times and had fairly thorough hearing tests. They feel her hearing is good, however there is some loss in the 4 kHz region owing to glue ear. This prevents her hearing sibilant sounds properly, so her spoken 's' sounds tend to be be unclear.
I made sure that both the opthalmologist and audiologist were of the paediatric variety. I didn't want Maria to suffer from the fear I had of dentists as a child. This probably traces back to when I was a child visiting our family dentist and being placed under a general anaesthetic. When I woke up I discovered he'd removed the wrong three teeth. I was probably around 6 years old. The next time I visited the dentist I screamed the place down. It was another 12 years before I went to a dentist again.
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| Nurse Maria |
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Maria has suffered from involuntary gagging and choking since she was born. She was initially examined by her Speech & Language Therapist, then the Occupational Therapist, then both together then finally by the paediatrician, who referred her to the Clinical Imaging department of our local hospital for a fluoroscopy. This involves swallowing a barium solution and recording the results with an x-ray video camera.
Maria wouldn't drink the barium solution directly but I knew she loves hot chocolate milk. Unfortunately the department didn't have any so the radiologists scurried around for about fifteen minutes and eventually tracked some down. I was impressed by their tenacity.
Once we made the hot barium-chocolate concoction, Maria refused to drink it lying down so we sat her up and turned the machine at right-angles to see the image of her throat. Everyone in the room except Maria was wearing a protective lead-lined jacket. The barium made a mess when spilt on hands and clothes and was difficult to clean off, leaving a white stain similar to calamine lotion.
At first I thought the barium was radioactive but when I checked on Wikipedia I realised that it wasn't. However the fluoroscope contains an x-ray source, so exposure to children and pregnant women should only occur as a last resort.
Once we got the results, the radiologists said they couldn't see any obvious abnormalities with Maria's swallowing. The follow-up appointment with a gastroenterologist concluded that it was safer not to operate. He believed that Maria would learn to cope in time, and it seems he was right.
Nowadays, when Maria shows signs of choking then she adopts a special breathing posture, taking deep breaths through her nose and mouth. She even demonstrated it to her mummy the other day to suggest that she calm down after becoming stressed!
A more common form of surgery for RTS children is to the thumbs and big toes (halluces). Fortunately Maria hasn't needed this type of surgery.
Maria's dentist is on the lookout for talon cusps, which may appear in a few years. This would require surgery too but, fingers crossed, she might never develop them.
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| Fairy Isabella |
Some say that 'familiarity breeds contempt' but I'd use the word 'impatience'. Impatience is the biggest barrier when communicating with your loved ones, making it difficult to play the role of teacher as well as parent. For that reason I feel we need professionals to help Maria.
First, a good school teacher who can sign in Makaton is a great starting point; someone who has a rapport with Maria and can implement a national curriculum and instructions from a therapist. There are several therapists encouraging Maria to concentrate and verbalize:
1. a Speech & Language Therapist to help Maria articulate and form expressive language.
2. an Occupational Therapist to help Maria with fine motor skills and attention to tasks; the therapist believes that attention is enhanced following a period of exercise.
3. a Music Therapist to encourage Maria to articulate words through the melody and rhythm of music and song. This method draws on Maria's love of music and movement. I've asked the therapist to look into applying a method similar to Melodic Intonation Therapy, which should help with articulation. The method is not well-known here in the UK so I've supplied our therapist with papers I found referenced in the Wikipedia article.
For now, Maria is learning Makaton but I'd prefer BSL instead. That's why I'm learning BSL myself and encouraging Maria to watch BSL videos at home. Signing is Maria's primary expressive language and her safety net; currently speech supplements her signing but there is growing evidence that it will soon overtake her need to sign.
