Meet Reggie.
There is something quietly extraordinary about Reggie. He is only one year old, and he has already shown the world more strength and resilience than most people summon in a lifetime.
Reggie lives with a form of Congenital Disorder of Glycosylation (CDG) known as ALG1-CDG. This is a genetic metabolic disorder that is so rare that fewer than 100 cases have been confirmed in published medical literature worldwide. Being so rare, this means our family and his medical care team are navigating territory where the maps are still being drawn - where questions often go unanswered not from lack of trying, but simply because so little is yet known.
What is CDG?
Congenital Disorder of Glycosylation (CDG) is an inherited metabolic condition that affects several body systems. People living with ALG1-CDG (Reggie’s sub-type) typically have developmental delays, low muscle tone and an intellectual disability. Many individuals will also experience seizures that can be difficult to control as well as movement differences. Other symptoms that have been reported include problems with blood clotting, vulnerability to infection, physical differences and eye problems. The signs and symptoms of the condition usually begin in infancy or early childhood, however the onset and impact of these symptoms can vary.
Genetics
We all have two copies of most genes, including ALG1. We inherit one copy from each parent. People with ALG1-CDG have a variant in both copies of the ALG1 gene. Usually, each of their parents is a healthy carrier of the condition, meaning they both have one working copy of the gene and one copy of the variation.
Genetic testing confirmed that Reggie’s parents are both healthy carriers of the ALG1 gene variant, where Reggie has inherited two variations of the ALG1 gene, one from his mother and one from his father.
Cells
CDG affects the body at a cellular level. The ALG1 gene provides instructions for making an enzyme involved in glycosylation, a process by which complex sugar chains are added to proteins and fats so they can perform their functions properly. In ALG1-CDG, this enzyme doesn't work efficiently, and the resulting sugar chains are often incomplete. The consequences of this ripple across multiple body systems simultaneously, making it a condition that touches nearly every aspect of Reggie’s daily life.
Below is some additional information about the CDG symptoms Reggie experiences day-to-day.
Epilepsy
Reggie lives with epilepsy, meaning his brain is prone to sudden bursts of abnormal electrical activity that cause recurring seizures, some of which he isn’t able to breathe through.
Reggie is currently experiencing seizures which are difficult to control and therefore has to be on many anti-seizure medications which are administered multiple times daily.
Hypotonia
Hypotonia means Reggie's muscles have lower tone than typical, affecting his strength, movement, and the physical effort required for everyday tasks like feeding and holding his head.
Reggie will have ongoing physiotherapy throughout his life to help him gain muscle strength with the hope of one day being able to stand and walk.
Global Developmental Delays
Global developmental delays mean that Reggie is reaching milestones - like movement, communication, and interaction - more slowly than is typical for his age, across multiple areas of development at once.
Reggie is currently unable to crawl and move freely as a typical one-year-old would. He currently has a nasal gastric feeding tube in place to ensure he is getting the correct amount of calories and nutrition for his growth and development.
Cortical Vision Impairment (CVI)
CVI means that while Reggie's eyes themselves work, the part of his brain that interprets what he sees doesn't always process visual information reliably.
When Reggie was three months of age, during a physiotherapy session, the therapist realised that Reggie wasn’t fixing and following. This started further investigations where Reggie was referred to an Opthomoligist at the Royal Childrens Hospital, which confirmed the CVI.
