Something Special

Whilst the majority of cases of 22q are diagnosed as a result of cardiac issues, the second major source of diagnoses is due to issues with speech and language.

When referring to speech we are really referring to the mechanical process of producing sounds whereas language is the art of communication. The term language consists of both expressive language (being able to put thoughts into words and sentences) and receptive language (the ability to understand language). For children with 22q speech and language are usually delayed with receptive language normally developing at a faster pace than expressive language.

As Sarah had been diagnosed with 22q following heart surgery our geneticist had already lined up appointments with our local speech and language team and our first appointment was when Sarah was just over a year old.

The initial appointments could only assess her receptive language as she did not say her first word until around 17 months and was not joining words or making short sentences until she was around 26 months.

At this time we first became aware of Makaton a system of using signs or symbols to communicate and our understanding of this method of signing was helped by the award winning BBC TV children's program "Something Special" where the main character  "Mr. Tumble" played by Justin Fletcher uses Makaton to support speech.

Justin Fletcher as "Mr. Tumble"

I can remember when we were bathing Sarah and playing with bubbles. We kept asking "Do you want some more?" and she responded by placing the palm of her left hand on to her clenched right fist which is the Makaton sign for more.

We suspected that Sarah may have an issue with here palate as she continued to be sick through her nose. However the examination of her palate had to wait until she was speaking. When she did start speaking many of the words she was trying to pronounce were difficult to understand.

By the age of 3 Sarah was ready to have an examination of her palate which was done by videofluoroscopy basically an x-ray video which can show the movement of the palate. The test showed that Sarah has velopharyngeal insufficiency (VPI).

Figure 1

Figure 2

During speech the soft palate moves up and down (Figure 1) and when raised it should press against the pharynx (Figure 2)  creating an airtight seal to stop air escaping through the nose when producing consonants such as "p," "b," "g," "t" and "d."

In Sarah's case the shape of the palate meant there was a gap between soft palate and pharynx allowing air to escape affecting her ability to make certain sounds. It was suggested that because the gap between palate and pharynx was quite small instead of a normal VPI repair the surgeon would try a new technique which involved taking a small amount of fat from her tummy and injecting this into the pharynx to bulk up the size of the pharynx to reduce the gap. Although initially there was a small improvement in Sarah's speech the improvement did not last long and soon things were back to normal.

When Sarah was 5 years old a further videofluoroscopy examination was done and the surgeon recommended a full VPI repair. This was conducted at Evelina Children's Hospital and the morning after surgery she was ready to be discharged although she was not very happy as she wanted to stay in hospital and play with the toys in the play area !

It can take up to a year for the full benefits of a VPI repair to be seen but we saw an initial improvement straight away. Further assessments at the cleft clinic have shown that Sarah has had a very good repair with little air escaping through her nose when pronouncing hard consonants. Her speech is now very good although she still has Speech and Language therapy to help her use of language.

The success of a VPI repair is very dependent on the size and shape of the soft palate and in some cases the soft palate is too small or the movement is too limited to enable the surgeon to effect a repair. It is not a procedure which is appropriate in all cases but in Sarah's case the results have been exceptionally good.