Meet Zoe!
Within the first week Zoe was diagnosed with Failure to Thrive and lost over 10% of her birth weight. She was admitted to the NICU and had a feeding tube placed. Her mama stayed by her side in the hospital while her daddy took a leave from work and took on the twin boys. The first three weeks at the hospital involved many referrals and tests addressing her abnormalities, weight and feeding issues and mainly just tried to comfort a baby in distress. On October 31st Zoe was rushed from Markham Stouffville to The Hospital for Sick Children for emergency surgery as she had a spontaneous perforation of her bowel, developed sepsis and possible meningitis.
After exhausting all resources and expertise of the Genetic team at Sick Kids, Zoe’s parents applied and sent away for Whole Exome Sequencing (WES). On June 26, 2019 Zoe received an extremely rare diagnosis of SLC35A2-CDG (CDG Type IIM). “Little Miss Zoe” was the 49th person WORLDWIDE with this diagnosis.
There was little to no information on Zoe’s condition, leaving her parents in a world of uncertainty and fear of the unknown.
There was little to no information on Zoe’s condition, leaving her parents in a world of uncertainty and fear of the unknown.
It has been over a year since receiving Zoe’s diagnosis and it is still a matter of following Zoe’s lead and constant preparation for the unknown.
Summary Congenital disorders of glycosylation (CDG) is an umbrella term for a rapidly expanding group of rare genetic, metabolic disorders due to defects in complex chemical process known as glycosylation. Glycosylation is the process by which sugar ‘trees’ (glycans) are created, altered and chemically attached to certain proteins or fats (lipids). When these sugar molecules are attached to proteins, they form glycoproteins; when they are attached to lipids, they form glycolipids. Glycoproteins and glycolipids have numerous important functions in all tissues and organs. Glycosylation involves many different genes, encoding many different proteins such as enzymes. A deficiency or lack of one of these enzymes can lead to a variety of symptoms potentially affecting multiple organ systems. CDG can affect any part of the body, and there is nearly always an important neurological component. CDG can be associated with a broad variety of symptoms and can vary in severity from mild cases to severe, disabling or life-threatening cases. CDG are usually apparent from infancy. Individual CDG are caused by a mutation to a specific gene.
For Little Miss Zoe it affects many parts of her body. She has epilepsy/infantile spasm seizures, low tone, global developmental delay, cognitive visual impairment, fully reliant of her G-Tube for her nutrition, GI complications, GERD/reflux and many other uncertainties that require close and frequent observations and testing. Her perfect little self has uniquely formed features and the list of complications or health issues that can develop is exhausting.
Along with the lack of research there comes lack of funding and resources. Zoe’s parents have and will continue to go to all lengths to get her the therapies, equipment and support she needs to live to her fullest potential.
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