By Caitlin Seida from In The Cloud Copy
If you’ve never heard of CDG, or congenital disorders of glycosylation, you’re not alone. The rare family of diseases, all inheritable, are responsible for interfering with the bodily process of glycosylation, where the cells of the body build up long chains of sugars and attach them to proteins. Each step of the process uses an enzyme as a catalyst. Those living with CDG lack the enzyme that makes this process possible.
Overview of CDG: Types, Symptoms and Prognosis
Currently there are over 100 known types of CDG, and because each subtype differs from the other, symptoms, prognosis and how those living with the disorder cope vary wildly. Challenges to day-to-day life can vary from mild to severe. Doctors working with those living with CDG must monitor their patients, their progress, and needs closely to help them live life to the fullest extent possible. Because CDG is an inherited disorder, it may be able to be identified during family planning testing, and those with CDG in their families are urged to consult with genetic specialists and counselors.
A Rare Case
For one little boy living in San Diego, California, he’s literally one of a kind: the type of CDG he lives with (termed CDG X by researchers and doctors) is the only known case at present. Damian Omler can’t walk and needs accommodations to communicate. He also occasionally requires a feeding tube or assistance using the restroom. Despite these obstacles, Damian lives a fairly typical life: he attends school, has friends, loves listening to music and is nearly always laughing.
After five years of researching Damian’s form of congenital disorders of glycosylation, his doctors and those at the National Institutes of Health concluded Damian was the only person in the world to date with his specific form of CDG and gave the variant a less ominous name – CDG-GET4. This name reflects the fact that young Damian’s body stops the proteins from being placed into the proper position to link up with the sugar chains.
Implications for Damian — And Others
Damian’s case allows doctors and researchers to better study the inheritable disorder. By learning which types of DNA mutations lead to issues in glycosylation, professionals leading work on the disorder can better understand the causes of it and which treatments may help those living with it.
While Damian is left with one pharmaceutical option that might possibly help his CDG, research done in the field may lead to further therapies down the road. For Damian’s family, having answers is more of a comfort, even if there’s little from the medical community on how to make life easier.
Damian’s family hopes that others take hope from Damian’s story, and want others to know that they aren’t alone – even if they’re presently the only known person with a rare disease or disorder. Their hope in telling Damian’s story is that others get tested, identified, and treated – and that more good to the overall treatment of CDG can come of it.
Check out the original story here.
