Neonatal Progeroid Syndrome , Jota Leal

Gabby

Gabby is one of forty diagnosed cases of this very rare syndrome. The syndrome is an advanced aging syndrome, under the wide umbrella of progeroid syndromes. Children suffer from a wide range of disabilities, ailments, and drastically limited life expectancy. We work very closely in a special project with the Washington University genetics team and St Louis Children's Hospital to help identify these syndromes' genetic make up as a first step toward a treatment.

Gabby, like so many other amazing children, has been dealt an unfortunate hand. However, she is a fighter and an inspiration to all that meet her. I am confident her cute smile and adorable dimples would be a great addition to your amazing project. It will surely help people see beyond her diagnosis and help raise awareness for the millions of brave children and patients who are pioneers that will lead to cures!

~Michael, Gabby’s Dad

Neonatal Progeroid Syndrome

Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay, and mild to severe intellectual disability. In most cases, affected infants pass away before age 7 months, but rare reports exist of survival into the teens or early 20s. Although the exact underlying cause of neonatal progeroid syndrome is unknown, it is likely a genetic condition that is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive.

Artist: Jota Leal

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