EGL Genetics Blog

Danyella Davis

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The LHON Genealogy Project

Posted by Danyella Davis on May 10, 2017 3:15:00 PM

As a 11778G>A mutation carrier, Lissa Poincenot, founder of LHON.org, is forever connected to the Leber hereditary optic neuropathy (LHON) community.

After her son’s diagnosis in 2008, this mother turned advocate was determined to provide resources, tools, and easily accessible information to carriers and those diagnosed with LHON.

In her continued quest to find a cure by connecting research and LHON patients, Poincenot recognized a void.

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Topics: Inherited Eye Disorders, LHON, Global Genes Rare Patient Impact Grant, Leber hereditary optic neuropathy, eye disease, optic atrophy

The Autism Dad — A Proud Father

Posted by Danyella Davis on Apr 26, 2017 3:18:00 PM

Thank you to this month's guest blogger, Rob Gorski, for sharing his family's story.  
My name is Rob Gorski, father to three with autism, husband to my best friend and creator of the multiple award-winning blog, The Autism Dad. I have been an Autism Dad for over fifteen years and learned a great deal along the way.

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Topics: Autism Spectrum Disorder, the autism dad

Defying Limitations for Autism Spectrum Disorder

Posted by Danyella Davis on Apr 12, 2017 3:00:00 PM

Thank you to this month's guest blogger, Kanetra Woods, for sharing her son's journey. 

 

In light of National Autism Awareness Month, we're excited to have the opportunity to set aside a series of blogs that will educate the medical and patient communities about autism spectrum disorder, a developmental disability that ranges in severity and symptoms, and is nearly 5 times more common in boys than in girls. 

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Topics: Autism Spectrum Disorder

Beating the Odds — 35 Years with Trisomy 18

Posted by Danyella Davis on Apr 5, 2017 11:00:00 AM

Thank you to this week's "My Beautiful CHILD" guest blogger, SOFT President Barbara VanHerreweghec, for sharing her daughter's trisomy 18 journey. 

Our story started 35 years ago. We had waited eight years for the birth of our first child.  Just like anyone else carrying a baby, we thought that everything would be perfect. The time finally came for our first child to be born. On May 21st, our little bundle of joy was born, a girl, weighing 4 lbs 8 1/2 ounces. She was adorable.

She was born at a small hometown hospital in Brockport, NY. We spent every minute with her even when they discharged me and said she needed to stay and gain a little weight. After 10 days, we took her home from the hospital. Everyday was a struggle to get in enough food. Her doctor told us he wanted to get her in for genetic testing, but didn't provide the reasoning behind his logic. 

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Topics: trisomy 18, Edwards Syndrome, Support Organization for Trisomy 18, 13

In Memory of Aaron — How You Changed Our Lives 

Posted by Danyella Davis on Mar 29, 2017 11:00:00 AM

Thank you to this month’s blog feature by Leah and David Bultema; David is the Executive Director and Founder of The AaronStrong Foundation.

Hope. Faith. Family. These three things have been our focus and have strengthened tremendously through Aaron’s journey. Although we could've easily chosen a path leading to destruction following the loss of our son, we instead chose a path of recovery. That choice made one of the toughest times of our lives one of the greatest blessings.

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Topics: Down syndrome, aaronstrong foundation, trisomy 18, Trisomy 21, Edwards Syndrome, Aneuploidy

Divide, Recombine, Repeat With Dr. Sherman

Posted by Danyella Davis on Mar 22, 2017 11:00:00 AM

This week, EGL Genetics is featuring published work by Dr. Stephanie L. Sherman, Professor in the Department of Human Genetics and Co-Director of the Down Syndrome Center at Emory University.

Dr. Sherman's more recent research identifies gene-environment interactions associated with the causes and consequences of trisomy 21 and meiotic recombination. 

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Topics: Down syndrome, Meiotic recombination

Trisomies: More Common Than You Think

Posted by Danyella Davis on Mar 15, 2017 3:00:00 PM

Chromosomal abnormalities are common causes of birth defects that can affect neurological functions and various parts of the human body. Accounting for nearly 20% of all infant deaths, birth defects are the leading cause of infant mortality, according to the Centers for Disease Control And Prevention.

Three of the most common newborn aneuplodies are trisomies 13, 18, and 21. About one in 5,000 babies is born with trisomy 18, one in 16,000 is born with trisomy 13 and one in 700 babies is born with trisomy 21, the most frequently occurring chromosomal abnormality. Although women of all ages may have a child with trisomy 13, 18, or 21, the risk  increases with advanced maternal age

March was named National Trisomy Awareness Month to increase awareness of trisomy conditions and to provide resources and support to the trisomy community, as families are often ladened with uncertainty, anxiety, and sometimes, loss.

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Rare Disease Day: With Research, Possibilities are Limitless

Posted by Danyella Davis on Feb 28, 2017 3:00:00 PM

Imagine being riddled with concern, burdened with more questions than answers, drowning in a slue of symptoms with no diagnosis. Or, perhaps you’re one of 200,000 individuals diagnosed with a rare disease that has no cure or treatment. Where do you turn, who’s your support, and what resources are available? Rare disease patients may often struggle to find the support system they need or medical solutions and answers. For those reasons and more, Rare Disease Day was created.

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Topics: rare disease day

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.

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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.

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

 

 

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