Xavier's Story

Xavier Kitchin is a 3-year-old boy who is currently travelling the unknown journey of being undiagnosed. Since birth, Xavier has had a list of problems. He was born with breathing difficulties, PDA, VSD, bilateral choroid plexus cysts (in the brain), silent aspiration, feeding difficulties and hydronephrosis of the left kidney to name a few. Xavier spent his first two months of life between three different hospitals (Launceston, Hobart and The Royal Children’s Melbourne). Geneticists are still reviewing Xavier, but a diagnosis as yet has not become clear. Some of the things Xavier is battling are:

• PDA
• VSD
• Needing oxygen therapy when sleeping. We still don’t know the reason for this.
• Undescended testes
• Significant global developmental delays
• Speech delays
• Several food intolerances
• Low thyroid (T4)
• Mild hearing loss (still under review)
• Left eye squint

Despite all of that, Xavier is a happy, cheeky little boy who is slowly progressing at his own pace and doing things in his own time. We visit specialists on a regular basis and attend therapies to give Xavier the best possible chance.

We could write a novel about his journey so far. One day I hold hope that Xavier will get a diagnosis and we can better manage a plan for his future.

Ed’s note: Xavier received a diagnosis of HIST1H1E/Rahman Syndrome