Faces of PKS
After a normal pregnancy Tommy was born 15 days early on the 8/2/009. No problems at birth but Tommy was unable to breastfeed, he just showed no sign of having any strength in sucking but if you gave him the bottle he was fine.
We went home from hospital and I expressed milk for Tommy hoping he would develop the skill but he never did. At three months old we saw the paediatrician because Tommy always held his hands in fist position and his thumbs never came out. Although he was concerned he said it was only an average of when they stop doing this and Tommy is on the end of the scale When Tommy was around nine months we started to get really worried because he was not doing things the other children his age were doing. He hated been on his stomach and when I put him in this position he would cry and roll over straight away, he showed no interest in getting to toys. When we put Tommy into a sitting position after a couple minutes he would fall forward so we took him to an osteopath. She explained that his spine had not yet changed shape from a baby to a toddler because of the lack of tummy time. After a couple of months of treatments Tommy was able to sit on his own for long periods of time
In June 2010, after a long wait and many tests Tommy was diagnosed with PKS, His FISH Analysis results are: Nuc ish 12p13(ETV6x4)  / (ETV6x2) 
From what we understand the results show 6% of cells tested have the extra chromosome 12. At the age of 17 months Tommy was able to get himself into a sitting position, it was very exciting to see him sitting up in the cot by himself playing with his toys. By 18 months Tommy started to commando crawl and he would lock his legs straight when you tried to put him down. Within a couple of weeks Tommy was up and crawling like other children, he was so fast before we knew it he was at the other end of the house. Now at the age of 2, Tommy can walk holding your hands for long distances but only short distantness with one hand, he cruises around his cot and the furniture, rides a trike and can eat most things. Although his speech is limited, saying words like mummy, daddy, car, bye bye (and waves), we remain confident that it will improve over time.
Tommy is a very loveable friendly kid who loves to laugh and to be tickled. He has started using keysigns for communication like – finish, more, food & drink. Tommy always has a great big smile and loves to be cuddled. Each day we can see improvements
. We live in country Victoria, Australia and please contact us with any questions on
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