Today we had a meeting with some medical specialists – CMV testing came back as negative, so we can now rule this out as a possible cause for the Polymicrogyria. – We are going to to some gene testing on Collagen 4A1 and Collagen 4A2, due to the Hemosiderin that was discovered on her MRI. Sometimes after the hospital visits, feels […]
We’ve seen many “ologists” to date, and today Chiara and I are off to Ivanhoe Eye Clinic for an hour long eye test with an Ophthalmologist. Clinically, our Mecy Paed thinks Chiara’s vision is okay, however in view of her developmental risk, she wants to make sure Chiara doesnt have any visual problems.
We’ve been to the Speech Pathology clinic at RCH a few times, they provide assessment, treatment and consultations for children with communication and feeding or swallowing difficulties. Due to Chiara’s diagnosis, there has bee a lot of concern regarding her breathing and ability to swallow foods safely. And due to the area of her brain that has been effected, […]
Our paediatrician has been wonderful, I am so thankful she was able to pick up Chiara’s diagnosis early. Some mum’s with PMG kids don’t find out for years, so whilst it has been devastating on so many levels, we have been able to get onto therapies early. As of March 27th, Chiara will have a […]
We take off for a hearing test at Taralye. Nana has come along for extra hands, she starting reading to Grace while Chiara was asleep in my arms. Though it didn’t take long for her to wake, when Grace came up singing “Karda, Karda.. look..” They call us through, and I instantly know the audiologists […]
Still so many unknowns with Chiara… we will basically have to wait and see. The main concerns based on Chiara’s MRI are her ability to walk, talk or manage seizures if or when they occur. Although this is often expressed in more in medical terms such as motor skills.. fine motor skills….speech.. cognition… communication…independently moving around… all […]
Just a quick pop in to hospital for some more blood tests… de ja vu!
Here we are back at the RCH, but today has nothing to do with Chiara’s clubfoot. So as we learned part of this new Polymicrogyria mystery.. it comes with a very high chance of seizures. So we are booked in urgently to the EEG department for more tests. Mum came along with me for this test […]
The phone rang in between nappy change.. Grace wanting her toy….. and Chiara needing all of my attention for the task at hand. But I felt a deep sense of urgency to answer the call. “Natalie, the genetic team have asked if you can come in today, we have the results for Chiara. Is your […]
So I’ve stopped counting and accepted that this is our norm.. that our days off as a family are mostly spent at the hospital with specialists helping to unlock the key to Chiara’s mysteries.. that we will continue to visit this place of healing and discovery and come what may… The RCH sent me a list […]