EGL Genetics Blog

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.


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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).  

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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.

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

My Beautiful CHILD Spotlight on Gaucher Disease

Posted by Eleina Cox on Nov 10, 2016 11:11:00 AM

This month's guest blogger, Shea, shares a personal story about her youngest son, Lathan, whose health suddenly declined due to unknown circumstances. By sharing her story, Shea hopes to enlighten parents and others to always pay close attention and listen to health complaints made by children.  

My son Lathan has always been a special child. He is highly intelligent for a seven year-old, loves to play soccer and basketball, and is always full of energy. Over the years, he has always had what many doctors refer to as ‘toddler belly.’ As such, my husband and I never really thought it was cause for concern. One evening, Lathan refused to eat. He insisted that he was full after having only had a few bites. Stepping into the mean mommy role, I told him to eat or we would pay his pediatrician a visit. Normally this threat would serve to achieve the desired result, but not this time. He looked me straight in the eyes and said, “Mommy, I can’t eat.” In true, mean mommy fashion, I sent him to bed and took him immediately to the pediatrician the next day.

What we found was horrifying and began a lengthy search for the cause…his spleen was enlarged.

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Topics: Gaucher disease

Meet the Team: Spotlight on Emory's Down Syndrome Clinic

Posted by Derek Stevens on Oct 27, 2016 11:11:00 AM

October is Down Syndrome Awareness month. Down syndrome is the most commonly occurring condition that is caused by changes in a person’s chromosomes. Specifically, it is caused by having three copies of chromosome 21 instead of two. One out of every 691 babies born in the United States is born with Down syndrome.

All people with Down syndrome experience some degree of intellectual disability. This means they will learn more slowly than other people. Children with Down syndrome will learn to do most things that other children do, but they will do them later than their peers.

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Topics: awareness, Down syndrome, Down Syndrome Clinic at Emory

Media Buzz Steers Genetic Testing Policy and Reimbursement

Posted by Eleina Cox on Oct 20, 2016 12:03:51 PM

From fashion, to homeland security and the presidential election, the media has a major impact on our daily lives. Though we may not notice it happening, the media also plays a significant role in our healthcare and health management. Take for example, in 2013; Angelina Jolie announced she had a mutation in the BRCA1 gene, which prompted her to undergo significant prophylactic surgeries to reduce her risks of developing breast and ovarian cancers. Angelina’s openness about her genetic status and personal health choices heavily influenced the demand for knowledge and testing for hereditary cancer throughout the United States.

Due to high media coverage and an increase in the number of individuals seeking genetic testing and counseling for hereditary breast and ovarian cancer (HBOC) syndrome, health insurance companies responded by improving financial coverage for individuals meeting certain testing eligibility criteria. These criteria are most commonly based on National Comprehensive Cancer Network (NCCN) Guidelines and include having a personal history of breast and/or other cancers, and/or having first and second degree relatives with a history of breast, ovarian, or other cancers. The criteria and amount of coverage may vary from one insurance company to the next, and even within plans offered by the same insurance company.

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Topics: genetic testing, awareness, breast cancer, rare disease, insurance coverage

October is Gaucher Disease Awareness Month!

Posted by Derek Stevens on Oct 13, 2016 11:00:00 AM

October is designated as Gaucher Disease Awareness Month and to increase awareness, we invited guest blogger, Dawn Laney, the founder and CEO of and a certified clinical genetic counselor, to share important information about this metabolic disorder. As you read her contribution, we hope you learn helpful information about Gaucher disease and where to find invaluable resources.

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Topics: awareness, Gaucher disease, rare disease

My Beautiful CHILD: Zachary & Grace

Posted by Eleina Cox on Oct 4, 2016 11:00:00 AM


“It was clear to us that our children did not have random birth defects, but some sort of syndrome.” Parents who advocate for their children, especially those who are members of the “My Beautiful CHILD” community, may be all too familiar with this statement. Being aware and keeping track of your child's physical and development health, noticing differences, and having concerns can be understated necessities to parenting.

As you read this compelling story about Zachary and Grace, beautiful siblings diagnosed with a disabling genetic condition, you will be exposed to the difficult turns the diagnostic process can take and how their family has experienced numerous ups and downs. They overcame those obstacles to uncover their diagnostic footprint and discover how love and hope can shape a perfect family.





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Topics: Congenital Disorders of Glycosylation, CDG

EGL Supports Limb-Girdle Muscular Dystrophy Awareness Day

Posted by Derek Stevens on Sep 29, 2016 11:00:00 AM


 Limb-girdle muscular dystrophy (LGMD) is a descriptive term applied to a clinically and genetically heterogeneous group of childhood- and adult-onset muscular dystrophies. LGMD is characterized by weakness and wasting restricted to the limb musculature; usually proximal muscles early on, then distal muscles later. There are more than 50 genes associated with LGMD that have various modes of inheritance. This, combined with a vast variability in age of onset, progression, and distribution of weakness, makes the diagnosis of a specific subtype of LGMD a challenge. And for some individuals, the science of genetics hasn’t caught up to their clinical diagnosis.

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Topics: LGMD Awareness Day, LGMD, Limb-Girdle Muscular Dystrophy

CDG Care Mission and Purpose: Making a Difference in the CDG Community

Posted by Danyella Davis on Sep 15, 2016 11:00:00 AM

Thanks to Andrea Berarducci, CDG CARE President, Community and Parent Representative for this blog contribution in support of EGL's My Beautiful CHILD campaign.

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Topics: Congenital Disorders of Glycosylation



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