Category Archives: Newborn Screening

A Consumer’s Reflections on #ACMGmtg 2014

Recently, I had the opportunity to attend the American College of Genetics and Genomics meeting in Nashville, Tennessee.  This opportunity was made available to me through a travel grant application I submitted through the regional genetics collaborative that I have … Continue reading

Posted in Advocacy, Autism, Baby's First Test, Genetics, Medical, Mitochondrial Disease, Newborn Screening, Research | Tagged , , , , , , , , , , , , | Leave a comment

#1min4mito Week 6: Highest Incidence of Metabolic Diseases

(please forgive us, we are a few weeks behind and trying catch up!!) This one floors me. Really floors me. As many of you know over the past few years I have become a HUGE advocate for Newborn Screening.  Metabolic … Continue reading

Posted in #1min4mito, Awareness, Baby's First Test, Mitochondrial Disease, Newborn Screening | Tagged , , , , , , , , , | Leave a comment

You Know Your Child Best. Period. End of Story.

I was honored to be asked by WhatToExpect.com to be a “Word of Mom” blogger and write a post about my views on motherhood! This post originally appeared on the website What To Expect on August 7, 2013.  My pre-child … Continue reading

Posted in Advocacy, Allergies, Asthma, Autism, Baby's First Test, Genetics, Medical, Mitochondrial Disease, Newborn Screening, Toxins | Tagged , , , , , , , , , , , , , , , , , , , , , | Leave a comment

Five Hundred Fifty Five Feet

Just over a year ago, I received an exciting email notifying me that I was selected to be part of the Baby’s First Test Consumer Task Force for 2012.  What an amazing year it has been… Here is a recap of … Continue reading

Posted in Advocacy, Baby's First Test, Medical, Newborn Screening | Tagged , , , , , | 1 Comment

SACHDNC January 2013 Newborn Screening Public Comment

Below is the comment I presented today, January, 31, 2013 to the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children webinar meeting. Dr. Copeland, Mr. Chairman and distinguished members of the committee Thank you for this opportunity to … Continue reading

Posted in Advocacy, Genetics, Medical, Mitochondrial Disease, Newborn Screening, Toxins | 4 Comments

VIDEO~10 Fingers 10 Toes 10 Facts about Newborn Screening You need to Know!

Today marks the last day of Newborn Screening Awareness Month 2012! We started the month with this post of the 10 Facts about Newborn Screening that every expecting and new parent should know… and we are ending this month on … Continue reading

Posted in Advocacy, Baby's First Test, Medical, Newborn Screening | Tagged , , , , , , , , , | 6 Comments

Texas Born- Newborn Screening in the Lone Star State: Congenital Heart Defects and Pulse Ox

By being part of the Baby’s First Test Consumer Task force, I have had the opportunity to meet some amazing people and parents this past year.  This next story comes through one of those connections and meetings. Though, I have … Continue reading

Posted in Advocacy, Medical, Newborn Screening, Texas Born | Tagged , , , , , , , , | Leave a comment

Texas Born: Newborn Screening in the Lone Star State: 3MGA type 1

I had the pleasure of meeting Audrey and her 2 adorable son’s a few months ago when we held a Mitochondriya’ll social/fundraiser at Sweet Tomatoes for Mitoaction.org.  At that time, Audrey had found my blog because her neurologist was suspecting … Continue reading

Posted in Advocacy, Genetics, Medical, Newborn Screening, Texas Born | Tagged , , , , | Leave a comment

Texas Born~Newborn Screening in the Lone Star State: SCID (Severe Combined Immunodeficiency)

I recently had the opportunity to virtually “meet” Jennifer Garcia, an amazing mom on a mission. This is her story of her son, Cameron, and his battle with Severe Combined Immunodeficiency (also known as the “Bubble Boy Disease“). I am … Continue reading

Posted in Advocacy, Genetics, Medical, Newborn Screening, Texas Born | Tagged , , , , , | Leave a comment

Texas Born: Newborn Screening in the Lone Star State ~ Congenital Hypothyroidism

  I have known Shannon for the past few years through mom groups and from shopping at the “parents of multiples sales” (with all those adorable girls clothes!). But I never knew that newborn screening had saved one of her … Continue reading

Posted in Advocacy, Genetics, Medical, Newborn Screening, Texas Born | 1 Comment