Providing information and support to families caring for a child with an undiagnosed or rare genetic condition.
After a normal pregnancy and birth, our mighty Miller was born in January 2020 and had the perfect little haircut and big brown eyes. As our third little boy, he completed our family and we were thrilled he had arrived safe and sound.
A few days later in the hospital, Miller referred on his newborn hearing screen. Further tests over the following weeks revealed that Miller had moderate bilateral sensorineural hearing loss. This coincided with the beginning of the pandemic, and it was a very stressful time for our family. At 10 weeks of age, Miller was fitted with hearing aids and we started speech therapy. We also immersed ourselves in learning everything about the Deaf community and started learning Auslan.
Fast forward another 6 months and Miller began to fall behind in reaching milestones. We engaged a Physiotherapist and an Occupational Therapist but his low tone and lack of balance was limiting his movement. We were referred to the Queensland Children’s Hospital for further genetic and metabolic testing and joined a research project. We also visited the Rehabilitation Clinic where he was diagnosed with Hypotonia, Dyskinetic Movement Disorder and Global Development Delay.
Miller’s fine and gross motor delays along with the hearing loss were considered ‘red flags’ for a genetic disorder. We underwent Whole Exome Sequencing (WES) and after 9 months of waiting, discovered that Miller presents with one abnormal SPATA5 gene and a SPATA5 gene variant of unknown significance. This variant has never been seen before, and therefore there is no evidence or research to prove that this is the cause of his conditions. Although we’ve been told it likely is the reason, we can’t officially diagnose him with SPATA5 until more information about this gene variant comes to light. In the event that Miller does receive an official diagnosis of SPATA5 in the future, at the time of writing this there are less than 100 known cases in the world. There is very little information available and it’s not clear what Miller’s future progress and life outcomes will be.
When going down this path of searching for a diagnosis, we were prepared to either find a diagnosis or not receive one. Instead, we have landed in a diagnosis halfway house. The feeling of not belonging to a group or tribe can be lonely and isolating. Heather and the team at SWAN do a wonderful job at connecting and supporting families like ourselves who have children that may not fit into a particular box.
At 2 years of age, Miller presents like a child with cerebral palsy and is unable to talk, crawl or walk independently. That doesn’t stop him from being a social kid. He finds his brothers very entertaining and does his best to keep up with them in his walking frame. He loves his food, chowing down at least 3 courses for breakfast every day! And he loves to play with his toy car and books. Through this unexpected journey of ours, we’ve met some lifelong friends and we have an absolutely brilliant medical team. I’m sharing this story in the hopes that it might help other parents new to this journey to know they’re not alone. It’s hard, it’s emotional, it’s exhausting. But it’s also truly rewarding and we feel blessed that Miller chose to join our family.