Aurora's Hope: Overcoming Genetic Challenges

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Aurora's Hope: Overcoming Genetic Challenges

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Hi my name is Roxanne
I am helping raise funds for medical bills for a sweet child Aurora and her family Dillon and Melissa
Aurora has omodysplasia1 which a rare genetic disorder
and also
Shashi-Pena syndrome is a rare multiple malformation syndrome that presents at birth with characteristic facial features, enlarged head circumference and other characteristic findings such as a birthmark above the bridge of the nose (glabellar nevus flammeus), along with low muscle tone and global developmental delay.
Certain features such as epilepsy occur in some affected individuals, but not all. The condition is caused by changes (mutations) in the ASXL2 gene that have occurred as new mutations (de novo) in affected individuals. The condition is thought to follow an autosomal dominant pattern of inheritance. Treatment is targeted to the individual symptoms, and consists of supportive care for the complications, such as cardiology follow up in case of congenital heart disease and developmental therapies.
Introduction

She has currently had brain bleeds on both sides of her brain and had to emergency surgery .
Any donations will help towards these medical expenses which are not covered fully by medical insurance


Thank you for your donation

Organizer and beneficiary

Roxanne Normoyle
Organizer
Fort Plain, NY
Melissa Gillian
Beneficiary
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