When people ask Haley Holmes why she has become such a strong advocate for her son Hamish, she has an easy response.
“I can’t control what is happening to him but advocating for better research is something I can control,’’ she said. “By raising awareness, I’m making a contribution to helping others. If a cure was found, and to think I was a part of that, that’s amazing.’’
When Haley was pregnant with Hamish, she knew something wasn’t right.
“I had this feeling that something wasn’t right, just this gut feeling."
"He was born early at 34+5 weeks because he had stopped growing and there was no amniotic fluid left," Haley said. "Because of this, we remained under the care of Allied Health Services at Caboolture Hospital where it was discovered he had Global Developmental Delays as well as Low Muscle Tone. By the age of eight months he was growing paler and paler and we found out he was severely Anaemic and his Hemoglobin (Red Blood Cell) levels were not as high as they should have been so after 2 emergency Iron Transfusions, we were referred to Hematology at Queensland Children’s Hospital where they began the testing to find out what was going on.
It took 18 months of tests ruling out the more common disorders that could cause Bone Marrow Failure as well as Developmental Delays and it wasn’t until he was two years old that Hamish was diagnosed with Dyskeratosis Congenita in January 2019 and he underwent a Bone Marrow Transplant just four months later."
It was a devastating diagnosis, despite the relief of finally knowing what was going on.
“There is a 100 per cent mortality rate and his case is very severe, not a lot of kids have survived past puberty. There are only five people in Australia with this condition that I know of.”
Haley now focuses all her energy on educating people about telomere disorders and work like that done by Professor Tracy Bryan who is one of the world’s leading experts in these disorders.
“A coping mechanism for me has been to focus my energy on raising awareness and fundraising for Telomere Biology Disorders - specifically Dyskeratosis Congenita.’’