Hamish's Story

Hamish’s story – by Rachel

My son Hamish is three years old and has a rare chromosome deletion. His diagnosis is chromosome deletion 8 q22.2 q22.3.

We had a feeling something was up the day he was born. He didn’t open his eyes until he was 12 days old. The paediatrician in Special Care noticed a few differences in his physical appearance. This included Hamish’s eyes (which were closed and had tight eyelids), that he had only one palmer flexion crease in his palms instead of two, and his hands and feet, which were short and stumpy and had an appearance similar to a case of edema.

Around four months old, he had a chromosome blood test. The results showed the chromosome deletion. Trent and I then had the same test to see if either of us had the same deletion, but the results came back negative. So we then got referred to a geneticist at the Royal Children’s Hospital, Melbourne, and were told it was an extremely rare deletion. She gave us a research article from 2008, and at that time, only five other children in the world were diagnosed with a similar deletion.

Hamish has global development delay, and his physical features include postnatal short stature and blepharophimosis, telecanthus and epicanthus (which affect the development of the eyelids and result in narrowing of the eye opening and droopy eyelids). There isn’t a lot of information for us to go off, so it’s a ‘wait and see’ situation; when something comes up, we deal with it then. We have accessed therapy under the National Disability Insurance Scheme (NDIS). Due to physiotherapy, Hamish can now pull himself up and stand with the occasional cruise along. He uses splints and a walking frame which encourage him to walk independently. We also see an osteopath, paediatrician, dentist (he has an extra tooth!), geneticists and a podiatrist.

Hamish blabbers a lot but doesn’t put many words together, so we can only read his cues and guess what he needs (food, drink or sleep). We are learning Key Word Sign, a form of sign language, to help him communicate with us.

The future is unknown for us. What we do know is Hamish is such a happy boy, it’s rare that you see him without a smile. Any milestone is a huge milestone for us and we love watching his progress.


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