EGL Genetics Blog

The Rare & Undiagnosed Family

Posted by Danyella Davis on Feb 7, 2017 3:00:00 PM

Thank you to this month's "My Beautiful CHILD" guest blogger, Gina Szajnuk, for sharing her family's diagnostic odyssey. 

During the summer of 2014, I co-founded the Rare & Undiagnosed Network (RUN)RUN’s mission is to empower rare and undiagnosed patients and their families with genomic information through community, advocacy, networking and support. RUN is a platform for families to share their journey.

Read More

Topics: My Beautiful CHILD, rare and undiagnosed diseases

My Beautiful CHILD: Victor

Posted by Eleina Cox on Jan 18, 2017 3:00:00 PM


This week, the My Beautiful CHILD Spotlight is on Victor. He was diagnosed with Pitt-Hopkins Syndrome (PTHS), but his diagnosis has not stopped him from being a happy and outgoing child. Thank you to Victor's loving parents, Theresa and Paul for sharing his story. 

Read More

Topics: My Beautiful CHILD

A Mother Paying it Forward

Posted by Danyella Davis on Jan 11, 2017 3:20:00 PM

Thank you to this month's "My Beautiful CHILD" guest blogger, Marlene Soto, for sharing her son's diagnostic odyssey. 

Shocking news...

The news that I was expecting after the recent loss of a baby was so heartwarming. I carefully followed my doctor’s orders and took my prenatal care very seriously. I was shocked when the doctors recommended we induce labor for my child’s safety. After my son, Antonio Luis, better known as Aj was born, I was only allowed to hold him for a few seconds before he was admitted to the Neonatal Intensive Care Unit. Aj was born with intrauterine growth restriction, small for gestational age, underdeveloped lungs, patent foramen ovale (heart defect), microcephaly, micronagthia, polydactly, and pectus. For weeks, I spent my days and what felt like endless nights in the hospital. It was then that I was told my son had to be seen by a geneticist because he was born with a syndrome.

 

Read More

Topics: My Beautiful CHILD

 

 

Subscribe to Email Updates

Posts by Topic

see all