Welcome to our bright life.
When your child is diagnosed with an unbalanced chromosomal translocation the first thing you ask is, “What does that even mean?!” Then you wish you’d paid closer attention in high school biology.
My pregnancy with our second child was unremarkable. Avery was 6.9 pounds at birth, full term. She was a happy, healthy baby. But we soon started noticing differences. Avery was “a floppy” infant. She couldn’t support her head or roll over when most babies could. She never cried. Like, ever. She’d easily sleep through the night, never waking for a feeding. She was slow to gain weight, and refused to nurse or take a bottle. She vomited after eating most solids. She had some physical traits that made us wonder. The red flags continued to wave so we took her to several specialists, seeking answers. More on that in (infuriating) stories to follow.
In 2007, at 8 months of age, a diagnosis changed our lives in the most unexpected and challenging, but also beautiful ways.
I started a blog shortly after that, as a way to keep family and friends updated. Over the years it grew into more. The Forever In Mom Genes website grew into a community. I shared what I knew as a mom of a child with disabilities, and learned so much from the parents I connected with there, and on social media.
Now that Avery is a teenager, she’s asked for her own platform where she can share (with help) her experiences and ideas. Though I will always and forever be, forever in mom genes, this new website, aVERY BRIGHT LIFE is a new beginning. It’s a safe and supervised place (because the internet can be a precarious and ugly cess pool) where Avery and I can share together—on the blog, the podcast and on social media.
Welcome to aVERY BRIGHT LIFE. Growing up with disabilities has challenges. But Avery proves every day that with the right support and lots of love and encouragement, her life is so bright, she’s gotta wear shades. 😎
Frequently Asked Questions
1. Who?
Adrian (dad), Lisa (mum), Sebastian (20) and Avery (17), Ruby the sassy Yorkie and Kevin the flabby tabby. This Canadian family lives just outside Toronto, Ontario.
Dad is a phys. ed teacher. Mom was an elementary school teacher. Sebastian is a basketball playing, guitar strumming, compassionate and playful big brother who will change the world one day. Avery is a beautiful enigma. With her genetic profile, her physical and developmental challenges should be quite limiting. In fact, and as is the case for many families like ours, doctors painted a grim picture. We’re not blaming them. Their prognosis was based on the data available at the time. What they failed to factor into the equation was grit, determination, and love. Early interventions and the role of Avery’s unaffected genes have also played a significant part in making Avery into the ray of sunshine she is.
2. What?
Avery was diagnosed with a rare genetic condition via microarray testing. Her diagnosis: unbalanced chromosomal translocation between 3p25.3 and 9p21.3
3P deletion of 3p26.3—3p25.3 (approximately 9.1 MB)
9P duplication of 9p24.3-9p21.3
This particular syndrome is unnamed. A syndrome will only receive a name when a number of people present with the same missing or duplicated chromosomal material. Avery is the only known person to date (accurate as of 2022) with this particular genetic combination, therefore no “official” name has been given.
3. Symptoms?
Common symptoms shared by people (but not all) with 3P deletions may include: poor growth, feeding difficulties, seizures, global developmental delays, intellectual disabilities, autism spectrum disorder, distinctive facial features, ptosis, microcephaly (small head), hypotonia (low muscle tone).
9P duplication features include: “recognizable look” to the head and face/wide nasal bridge, global developmental delays, intellectual disability ranging from mild to profound, speech and language delay, poor growth, delayed puberty, abnormalities of the hands and feet, dental issues (including late teething, over-crowding, tooth-grinding, weak enamel), low muscle tone/hypotonia, constipation, feeding difficulties including reflux (which usually resolve after babyhood or early childhood), Glue Ear/frequent ear and respiratory infections (which usually resolve during childhood), a high, narrow palate, seizures, heart conditions (Avery has mitral valve prolapse), anomalies of the brain (Avery has a benign cyst).
4. How?
This genetic mutation is a de novo occurrence. This means this condition was not inherited, but occurred randomly. Also called de novo variant, new mutation, or new variant.
Such genetic alterations can be caused by environmental factors such as ultraviolet radiation from the sun or can occur if an error is made as DNA copies itself during cell division. Most known cases, including Avery’s, are not inherited. However, people with this disorder can pass the deletion or duplication on to their children.