Our amazing strong and loving family consists of five of us; myself, Louise, mum of four beautiful children. My eldest boy Jordan (19), my daughter Izzy (17), my youngest son Teddy (7), and my little girl Charli (3)
WHERE DO YOU LIVE?
We live on the south side of Brisbane in a very nice little townhouse. However, my youngest Charli and I tend to live at the Queensland Children’s Hospital the majority of the time due to Charli’s complex medical condition.
WHAT IS YOUR CHILD’S DIAGNOSIS AND HOW DOES IT AFFECT THEM?
Charli suffers from a rare genetic neurodegenerative condition known as ‘Pontocerebellar Hypoplasia Type 1b’ (PCH1b). PCH1b is a severe recessive neurological disorder including spinal motor neuron, meaning Charli suffers from involuntary movements, hypotonia (no head or trunk control), muscle weakness, nystagmus, congenital hip dislocation, respiratory insufficiency, aspiration, neurological seizures (lasting up to 3 hours), hyperreflexia. She is non- verbal and will never attain the ability to crawl, sit or walk etc.
WHAT LED TO THE DIAGNOSIS?
Charli had her first chest infection when she was 10 weeks old. A paediatrician at the hospital noticed Charli wasn’t tracking with her eyes and was still extremely floppy. As the months went by no milestones were being met so further investigations continued. Eventually, genetic testing was performed and showed that Charli had a uniparental duplication of chromosome 9. Further genetic testing was done which led to the diagnosis of PCH1B. This was also confirmed via an MRI.
Charli is the only child in the world who has received this condition from one parent. Normally both parents have to be carriers in order to pass on the gene. Due to Charli receiving a uniparental duplication from mum and none from dad it meant she got 2 “bad identical copies” of chromosome 9, which is what carried the PCH1b gene.
IS YOUR CHILD IN SCHOOL?
Charli does not attend school. She is supported at home by me. She is unable to support herself in any way shape or form.
WHAT THERAPIES DOES YOUR CHILD DO? DO YOU HAVE ANY TIPS/TRICKS FOR FITTING THERAPY INTO YOUR LIFE?
Charli loves “informal” therapy; she enjoys floating and relaxing in the pool, rocking out to some music therapy is another favourite along with getting messy with paint in art therapy. We tend to fit these activities into our everyday life when and where we can and when Charli is up to it.
Due to the regression in Charli’s condition, Charli attending any sort of schooling, formal therapy, or anything that uses up her energy is difficult. It can cause Charli to go downhill with the stress and pressure on her little body leading to numerous seizures which then lead to further complications. Charli’s teams have agreed that formal therapies will not benefit her in the future; they believe it is best for her to reserve her energy and time for quality time with the family.
WHAT CURRENT GOALS DOES YOUR CHILD OR YOUR FAMILY HAVE?
We are unsure of the time we have to spend together as a family so we have one goal and that is to spend as much quality family time together as we possibly can and to make as many great, fun and exciting memories imaginable. Keeping Charli comfortable and happy and at home is all we can ask for so we are grateful for each day we have.
WHAT ADVICE WOULD YOU SHARE WITH SOMEONE STARTING OUT ON THE SPECIAL NEEDS JOURNEY?
Don’t compare your child’s journey to others and forget about “typical” milestones. Our precious, rare little gems write their own stories and create their own unique milestones.
Find some support groups, whether it be online or in person. I have made many friendships through social media and even though there are many people I have never met in person, they become family and the shoulder you need to cry on, talk to and bounce ideas off.
Lastly, don’t be afraid to ADVOCATE, ADVOCATE, ADVOCATE for your child.
WHAT DO YOU DO FOR YOU TIME?
I don’t get much ‘me’ time, but when I do it is usually late at night after Charli is settled and is fast asleep. I like to just sit down and hang out with my other kids, relax and find something on Netflix. We just enjoy laughing and joking. My eldest daughter and I will do little pamper sessions of facials on each other. Just the simple things I used to take for granted.
WHAT ARE YOUR HOPES FOR THE FUTURE?
Ideally, I hope for a treatment to slow down the progression of PCH1B so my little girl can live a longer, happy, comfortable life. But, at this stage my main hope is to have fewer hospital stays and more home time, to go on more family trips/ holidays and to grasp on to as many fun memories as a family that we can.
WE WOULD NEVER MANAGE WITHOUT THE FOLLOWING…
Products we love:
• Bingo Hoggie – Charli would be lost without her wheels
• iPad – Charli is obsessed with Sesame Street so we can take it everywhere we go
• Scentsy Buddies – soft cuddly animals that smell amazing
People (or businesses) we love:
• Gabby Smith – Paediatric Potentials Occupational Therapist
• Goodna Street Life – they have been a huge help in purchasing anything Charli has needed and they helped us purchase our care
• Special Needs Solutions – the ladies are the most caring people you will ever come across
• Tubie Fun – the best accessories you’ll find for your tubie child
• Surreal Signs – best signage place in town, they made our car so much fun!!