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Bringing Awareness to Rare Diseases

Written by Karen Morici, mom of a rare disease warrior

Dominic is an adorable 2.5 year old boy who prefers to interact and socialize with everyone around him over playing with any toy. He is super silly, curious, likes to make people laugh and is said to be the happiest toddler around. He is also very motivated by music and prefers beats that make him dance. 

At five months old, Dominic was diagnosed with Congenital disorders of glycosylation (CDG), a group of inherited metabolic disorders that affect the body’s process by which sugar trees are created and attached to proteins. This process is called glycosylation. Every part of the body requires glycosylation to work normally, which explains the many different health problems that affect people with CDG. There are only 200 diagnosed cases in the United States, but many still misdiagnosed and undiagnosed.

As his mother, I questioned things as he was starting to get older that were concerning to me, but everyone told me he was fine. The biggest thing that stood out was his head control. I didn’t understand why I still had to hold Dominic like a newborn at five months old, when other moms were holding their baby on their hip. Red flags went off one day when he stopped eating and started vomiting.  I just had a feeling something was wrong so my husband and I took him to the nearest ER where they ran a series of labs.

Based on their findings, they quickly admitted him. What followed were days examinations from several specialists. On December 23, 2017, the geneticist walked into our room and wrote Congenital Disorders of Glycosylation on the board and said this is what he suspected Dominic had. I had never heard of CDG before, nor had any of the doctors. With genetic testing, they confirmed that he did indeed have CDG, type PMM2. Realizing the severity and complexity of this disease, my husband and I decided to take him to Lurie Children’s, where we knew he was going to get the very best care.

CDG affects the entire body which is why Dominic sees 11 specialists at Lurie Children’s. He has a neurologist, hematologist, endocrinologist, cardiologist, gastroenterologist, nephrologist, orthopedic specialist, urologist, ophthalmologist, geneticist and a dietician. Because of the rarity of this disease, it is still unknown whether Dominic will ever walk or talk or eat without the support of his G-Tube, but we are trying our hardest to give him the best chance to have the best quality of life. If it wasn’t for his amazing team at Lurie Children’s, I’m not sure how we would have navigated through the first two years of his life. He’s spent weeks, sometimes months there and its come to feel like a second home for our entire family. Now, living over an hour away, we still drive the distance for all of his follow-ups and in an emergent situation, to be seen by the ER. We have come to know the nurses and staff very well and are so grateful for their compassion and meticulous care each time we are admitted. Their kindness and genuine concern for Dominic means the absolute world to us. We know Dominic is in the best hands with each admittance and feel a sense of ease knowing they are watching over him. 

For more information on CDG, visit their Facebook group: CDG CARE.

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