In 2012 our daughter Colbie was flown interstate to get treatment for a massive blood clot on her brain. She remained in hospital for a week undergoing many tests to determine the cause of the small strokes and blood clot that she had experienced. Unable to find a cause it was chalked up to chance and she was discharged with a follow up appointment scheduled.
At the follow up appointment a month later, a specific blood test was done to test for the possibility of Homocystinuria. Following this test we meet with a metabolic doctor and as a family we learnt about HCU, it’s affect on the body, it’s treatment and it’s hereditary nature.
We also had our son, Cayle tested for HCU. It came back positive. To have two children with such a rare disease was hard for our family to deal with. Today with the help of their medication, formula and very strict diet, both kids are doing well.
At the forefront of our thoughts everyday are the simple things in life that many take for granted. If one of their friends has a birthday party we must supply their food, if the neighbourhood ice cream truck comes through we must explain that they can’t have one, if we attend a movie we must smuggle in diet friendly foods. Only a few people can understand the overwhelming stress and anxiety of the holidays.