EGL Genetics Blog

Brugada Syndrome: A Rare Cardiac Disorder

Posted by Eleina Cox on Feb 14, 2017 3:00:00 PM

In recognition of American Heart Awareness Month this February and Rare Disease Day on February 28th, this week's blog focuses on a rare cardiovascular disorder known as Brugada syndrome. 

Never heard of Brugada syndrome? 

Continue reading to find out more about this condition.

 

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Topics: cardiac disorders, rare disease, cardiovascular disorders, cardiogenetics, sudden death, syncope, heart, brugada, brugada syndrome, arrythmias, cardiac arrest

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.

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

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. 

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

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 ThinkGenetic.com 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

 

 

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