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

A Mother's Plea - Lobbying For Canavan Disease Research Funding

Posted by Danyella Davis on Feb 1, 2017 3:00:00 PM

Thank you to this month's "My Beautiful CHILD" guest blogger, IIyce Randell, President and Cofounder of Canavan Research Illinois/Canavan Disease Research

 
On March 6, 1998, my 5-month-old son Max was diagnosed with a fatal and progressive brain disease called Canavan. There are many things we as parents encounter and experience when our children are born with a rare, or in my son’s case, an ultra-rare disease. 

We are often thrown into the role of nurse, physical therapist, and patient advocate before the full weight of the diagnosis even settles in. There's really no way to prepare for these new duties. We must quickly learn on-the-fly because our child’s life might depend on it.

On the day of my son's diagnosis, Max was given one to four years to live. That was the day I decided that I would never give up on my child without a fight. I didn’t know what that fight would entail, but I was determined to do everything humanly possible to save my baby.

Read More

Topics: neurologic conditions, rare disease, ultra rare disease, Canavan disease, research funding

PPMD Awards Gene Therapy Grant

Posted by Danyella Davis on Jan 25, 2017 3:00:00 PM

In an effort to further accelerate research within the Duchenne community, Parent Project Muscular Dystrophy (PPMD) awarded Dr. Jerry Mendell,  Dr. Louise Rodino-Klapac and Nationwide Children's Hospital with a $2.2 million grant.

"We are entering a new chapter in gene transfer therapeutics and while there are still questions to answer, the faster we move to answer these questions, the faster we know if a strategy will work," said Abby Bronson, SVP, Research Strategy, PPMD.  

Read More

Topics: muscular dystrophy, Duchenne, neuromuscular disorders, Parent Project Muscular Dystrophy, Nationwide Children's Hospital, DMD, PPMD, gene therapy, clinical study, grant, Jerry Mendell

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

An Undiagnosed Rare Disease Times 4! Meet the Szajnuk Family.

Posted by Danyella Davis on Jan 5, 2017 12:00:00 PM

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

My name is Gina Szajnuk and I am the mother of three children, Ava, Lucy, and Oskar. Each have an undiagnosed genetic dysfunction. I too am undiagnosed. We live in a diagnostic odyssey times four. Since the beginning of our journey, we have been to eight hospitals in now five states. 

Read More

Topics: rare disease, whole genome sequencing, whole exome sequencing

2016 Year in Review

Posted by Derek Stevens on Dec 8, 2016 11:33:42 AM

Emory Genetics Laboratory was founded in 1970 and while our long history is full of many scientific and technologic innovations, first-to-market genetic testing options, and experts in the field of medical genetics, 2016 has been one of our greatest years yet.

 

Thanks to the joint venture formed by Emory University and Eurofins Scientific, a global leader in clinical diagnostics and genomic services, Emory Genetics Laboratory will be reaching even higher heights with a brand new, 61,000-sq-ft, state-of-the-art laboratory.

 

New home, new name. That’s right, after 46 years of serving our clients as Emory Genetics Laboratory, we’ll soon transition to a new brand identity.

Read More

Topics: genetic testing, New employees, new building, new laboratory, Emory University School of Medicine, genetic counseling, 2016, Eurofins, Year in Review, new president, joint venture

MPS 1: The Honest Truth About My Disorder

Posted by Danyella Davis on Dec 1, 2016 11:00:00 AM

Thank you to this month's "My Beautiful CHILD" guest blogger, Erica, for sharing her diagnostic journey as an adult living with mucopolysaccharidosis type 1 (MPS 1).

Anyone living with a genetic, complex diagnosis knows the earlier the diagnosis, the better. At 21-years-old, I was diagnosed with MPS 1, a rare lysosomal storage disorder and a diagnosis most receive at age ten. I know all too well what a late diagnosis often means and how rapidly life changes.

 

Read More

Topics: Genetic disorder, MPS 1

Thursday is National Family Health History Day!

Posted by Eleina Cox on Nov 22, 2016 1:53:24 PM

The holiday season has come around once again, bringing the opportunity to celebrate and join our beloved family members and remember those who have gone before us. This precious time also presents the opportunity to discuss and share family health history (FHH).  

Read More

Topics: family health history

EGL Features The Miller Family For National Caregivers Month

Posted by Derek Stevens on Nov 17, 2016 11:17:00 AM

This month's guest blogger, Peggy, shares a personal story about her son, Bret, and the foundation that came from a shocking diagnosis.

My name is Peggy Miller. I am a mother of four and on April 28, 2010 I received an unimaginable task from God. Bret, my second son, was diagnosed with breast cancer at the age of 24. He discovered a lump on his right breast at 17, but all the doctors told us is that it was calcium and he was becoming a man. At the time, our family didn’t know where to turn.

Read More

Topics: cancer, breast cancer, male breast cancer, caregiver

 

 

Subscribe to Email Updates

Posts by Topic

see all