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Our amazing daughter, Olivia, has been diagnosed with a rare genetic disorder called PMM2-CDG. PMM2-CDG, formerly known as congenital disorder of glycosylation type 1a, is a rare multisystem disorder that involves a normal, but complex, chemical process known as glycosylation. Glycosylation is the process by which sugar chains (glycans) are created, altered and chemically attached to certain proteins or fats (lipids). When these sugar molecules are attached to proteins, they form glycoproteins. Glycoproteins have varied important functions within the body and are essential for the normal growth and function of numerous tissues and organs. PMM2-CDG can affect virtually any part of the body, although most cases usually have an important neurological component. PMM2-CDG is associated with a broad and highly variable range of symptoms and can vary in severity from mild cases to severe, disabling or life-threatening cases. Most cases are apparent in infancy.

Currently there are only around 1000 people diagnosed WORLDWIDE. Olivia will be under the care of Great Ormond Street Hospital for the foreseeable future, having multiple tests and assessments.

Currently there is no cure for this disorder. Compared to others, CDG UK is a small charity so they need as much support as possible.

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