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 was still a little floppy in the head and wasn’t tracking as she should have been.
She wasn’t formally diagnosed until around 1 year and 8 months of age. Initially she was diagnosed with Cerebral Palsy. CP was eventually ruled out as she began losing skills that she had achieved, which suggested misdiagnosis.
Basic genetic testing revealed that she had triple chromosome 9 from one parent.
A 4 month hospital stay followed, seizures started and involuntary movements became more prevalent. Swallowing also became a major issue for Charli. As a single parent Louise was with Charli 24/7 whilst she was in hospital. Her 16 year old daughter Izzy stayed at home looking after her younger brother Teddy whilst they were away.
Overseas genetic tests eventually came back and gave formal diagnosis that Charli had PCH1b. PCH1b is extremely rare. Charli is the only person in Australia with it. There are only 6 known cases in the world.
Louise describes Charli as “a happy little girl…even really, really unwell she’ll still crack a smile…”
Charli may have a life limiting condition and they may only have 12 months left with her, but the family’s mantra is just to live each day as it comes.
“Our big thing is making memories. Wherever we are, we always try to make a good situation out of a bad one.”
One of the most beautiful things in this community are the rare disease siblings and their bonds with their family. The amazing contributions that Charli’s eldest sibling Izzy makes are completely awe-inspiring. She keeps life running as smoothly as possible for their single parent family.
“Izzy is the best big sister and daughter a mummy could ask for. Being a sibling to a complex needs/palliative care child isn’t easy to say the least, but this girl goes above and beyond. Anytime Charli is in hospital for weeks or months on end, Izzy is the one that stays at home and looks after her 6 year old brother Teddy as well as working and studying grade 12. She is pretty much a second mama to the kids and I would be lost without her….She is truly one of a kind and I love her more than words can possibly describe.”
On Saturday 28th July 2018 our Star of the Week, Charli, had a very special Friendship Ceremony with her best friend Kyran. Kyran has Early Infantile Krabbe Disease and through numerous hospital visits struck up a very special friendship with Charli , who was often there at the same time. Their Mums, Louise and Carissa also became close, supportive friends. The two families wanted to create a special moment and beautiful memories to celebrate the unbreakable bond that Charli, Kyran and their families had.
