Khy’s Story
Misty (Khy’s Mum) has a Facebook page called Khy’s Journey-Trisomy 9 Mosaicism. In it she talks frankly about finally receiving Khy’s Trisomy 9 diagnosis in November 2018: “Our daughter Khy was diagnosed with Trisomy 9 Mosaicism!! It has definitely been a long journey for us, however, the not knowing has meant we have done everything […]
Joshua and Jenna’s Story
It was a fine day for sure, from the sunlight to the birdsong, yet in one particular moment after waiting for nearly a decade, the Turner family got a diagnosis. They were sitting in the Royal Children’s Hospital in Melbourne and the vascular specialist had referred them to genetics. The Geneticist walked in and started […]
Jack’s Story
Through the frame of the window comes the vibrant glow of a new day. Just after Jack Skilton’s 1st birthday, Robyn Skilton was referred to a paediatrician due to Jack being unable to get back up after falling down and choking on his food. When the paediatrician met with the family, he knew exactly what […]
Kyran’s Story
Fondest Memory: I would have to say celebrating Kyran 5th birthday at Sandstone Point was our most recent and fondest memory to date. We camped for 3 days with family and friends, and celebrated Kyran’s big day with ‘Bluey’, and blue fairy who entertained all the kids and adults. We had approximately 100 people who […]
Alexandra’s Story
This is Mum Peta’s Story: “Alex was born on the 25th of July 2006 after an average, ordinary pregnancy. Her life started in a blur of intervention while in fetal distress during delivery. Preliminary diagnosis was meconium inhalation and after 8 days in our local special care unit she was discharged. When Alex was 2 […]
Mateo’s Story
Meet our little butterfly Mateo and his beautiful family! Dayna Gonzalez talks about a particular moment and memory in their story: “Mateo’s diagnosis took almost 4 years to get. We received his genetic testing results in May, and he turned 5 in July. We saw very early on that Mateo was not meeting typical milestones. […]
Charli’s Story
We would like to introduce you to one of the cutest little girls. She’s called Charli and lives with Pontocerebellar Hypoplasia Type 1b (or PCH1b). Charli was taken into hospital at 10 weeks old with a chest infection. There were no alarm bells suggesting that there was a problem, until a doctor noticed that Charli […]
Taylor’s Story
You will love Taylor Harrison. A sweet 6-year-old with a rare disease so rare, it currently has no name. Taylor expresses so much joy and happiness to all those around her. Through extensive genetic testing and research, Taylor’s geneticist, as well as her specialists, believe that her X Chromosome abnormality is the cause of multiple […]
Hamish’s Story
This handsome young man is Hamish and he lives with Dyskeratosis Congenita. Hamish’s Mum, Haley, shares their journey towards and beyond Hamish’s diagnosis: Hamish was diagnosed with DC a week after his 2nd birthday. He was born at 34+5 weeks as he had stopped growing so we received regular outpatient care through our local hospital. […]
Samara’s Story
This is Samara’s story about her EDS journey, as seem through her Mum’s (Carolyn’s) eyes: “After a recent move from NZ, my husband and I discovered that we were going to be having another baby. There was a 9 year gap between our then youngest and the soon to be Samara. Following a bleed at […]