Well today Ive flown down to Melbourne to spend a few weeks with my grandchildren

Ive mentioned before that my granddaughter was diagnosed with Ushers Syndrome ~ well her genetic screening has identified a more refined diagnosis and they now know she has Zellweger Spectrum Syndrome ~ it’s a Peroxisomal Disorder and it’s horrific … Riley is amazing ~ she’s in first grade at a school for deaf/blind so she’s thriving. She such a smart little cookie.
She’s not completely blind yet and hopefully the cochlear implants will help her gain hearing but she has to be closely managed (regular blood tests) to stay on top of issues like organ failure.
Taking this proactive approach aims to intervene before physical signs are evident (which can take obviously longer). Liver failure is common but if they had to wait for the appearance of jaundice it would be too late ~ to reverse at that point.
She’s happily unaware of all this ugliness and is just diving into life as any 5yo would , she’s a complete delight
