Hamish’s Story

This handsome young man is Hamish and he lives with Dyskeratosis Congenita.

Hamish’s Mum, Haley, shares their journey towards and beyond Hamish’s diagnosis:

Hamish was diagnosed with DC a week after his 2nd birthday.

He was born at 34+5 weeks as he had stopped growing so we received regular outpatient care through our local hospital. At about 8 months old, we had some bloods done as Hamish was very pale and we suspected iron deficiency anaemia. These came back showing iron, haemoglobin and platelets were extremely low so he had 2 iron infusions. Hamish was then referred on to Haematology at Queensland Children’s Hospital when the platelets continued to drop despite other counts coming up.

After over a year of genetic testing, a bone marrow aspirate, MRI and a lot of head scratching, Hamish finally tested positive for a TINF2 Gene Mutation and short Telomeres – combined with bone marrow failure, developmental delays, cerebral hypoplasia and low muscle tone this pointed to DC. Formal diagnosis took 15 months.


Haley’s words:

“Hamish’s IUGR was an accidental find as he was growing within normal ranges at all previous ultrasounds and midwife appointments. I had a scan at 34 weeks to check my placenta previa had cleared and it was from there that I was whisked straight up to birth suite for steroid shots and told my baby would be born within the next 3 weeks. 5 days later, he had stopped moving so I presented to hospital where he was delivered within 2 hours by emergency c-section. Hamish was a tiny 1.4kg but defied all odds and was breathing on his own. He continued to do amazingly in NICU and Special Care so was able to come home after 28 days at a plump 2.1kg.”

“This is Hamish and Grayson, 2 amazing little DC warriors who have been through more in their 2 year lives than most adults. Being a parent of a child with an extremely rare disease is much more isolating and difficult than I could have ever imagined, but that all changed for me the day I got to meet little Grayson and his mum. What are the chances that there was another family going through the same things as my family in the same state, let alone the same city! Rachel has been an enormous support for us, and I’m so thankful to have met her & Grayson who is an absolute little champ.”