Dear Mighty Metabolites!!
Looking forward to getting together again for our annual fundraising walk!
Meet Adriana, a spunky young lady who faces her every day challenges with a smile on her face, and a whole lot of determination! Adriana likes to dance, enjoys swimming, reading, and playing with her friends and older brother, among many other activities.
Adriana has a condition called Methylmalonic acidemia, Cbl-C type; this is a disorder of vitamin B12 metabolism. Cbl-C is one of the conditions that is screened for on newborn screening (the heel stick) after a child is born. Because of this screening, we were able to see her, confirm the diagnosis, and start her on appropriate medical therapy. This early intervention can prevent a significant number of manifestations of the disease that would otherwise develop.
Prior to newborn screening, and still today with some variants of these conditions, those not caught in early infancy may develop significant intellectual disabilities, low muscle tone, blindness, failure to thrive, and other medical and psychological challenges. Unfortunately, even with intense medical therapies, and early identification, we are not yet able to significantly improve or halt the vision loss that occurs in this condition.
Adriana's medical regimen includes daily injections of Vitamin B12, at very high doses, and other medications.
Fortunately, Adriana has an amazing team, both at home and in school, supporting her every day. Her energy and motivation will no doubt take her far.
Support The Mighty Metabolites and children like Adriana and their families by joining our team or making a gift to one of our team members.
Your incredible donations each year go directly back to children, like Adriana and their families, who are seen in the metabolism clinic each year.
Register to join us!!