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 care at hospital, where it was discovered he had Global Developmental Delay 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 two emergency iron transfusions, we were referred to Hematology specialists, where they began the testing to find out what was going on.
It took 18 months of tests to rule out the more common disorders that could cause Bone Marrow Failure as well as Developmental Delay. 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 high mortality rate, and his case is very severe. Kids have survived past puberty.”
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.’’