Margaret Doll
This is a personal story shared by a family affected by PKU. (Editor's note: Margaret is the niece of Robert Guthrie, the Father of Newborn Screening, who is mentioned in this story.) Margaret was 13 months old when diagnosed with PKU. The earlier form of screening for PKU called the "diaper test" was being done in some doctors' offices and well-baby clinics, but not ours. The wine diaper test was [...]
Keagan
This is a personal story shared by a family who lost a child to 3MGA. Keagan Yancy Fife was born on November 21, 2006. The pregnancy went fine except for occasional premature contractions. But Keagan was born healthy and happy and came home 24 hours after birth. When Keagan was about 6 months old, he stopped gaining weight, and he had very bad reflux. In August of 2007, he had [...]
Nora
This story is shared by a family who lost a child to LCHADD. Our four-month-old daughter died suddenly and unexpectedly. This did NOT have to happen. A simple newborn screening test, which most parents are not aware of, would have saved her life. Please take the time to read our story. We want to tell it in hopes of helping others. My name is Sirpa Waananen. On March 29th I [...]
Rebecca
This is a personal story shared by a family who child has MCADD. Our daughter, Rebecca, came into this world on the morning of December 4th, 2005. It was a normal pregnancy and we had no complications from the delivery. She was a beautiful baby weighing in at 6 lbs 10 oz, and 21 inches long. Like any parent who has their first child, you check to see if they [...]
Alex
This story is shared by a family whose child has MCADD. Written April 2000 by Alex’s Mother Alex was born on October 1, 1998 Alex's Happy Story When I tell people in the metabolic disorder community Alex's happy story, I get a reaction synonymous to that of, "I just had a baby a week ago. I have 5 nannies and a personal trainer. I sleep 9 hours a night, uninterrupted, [...]
Nikki
This story is shared by a family whose child has GA-I. Not a day goes by when I look out the kitchen window and watch Nikki jumping on the trampoline, swinging, or riding her bike, that I do not think of how lucky we are. Nikki was born in June 1997 following a perfectly uneventful pregnancy and labor. She nursed right away and seemed perfectly normal. When the midwife came [...]
Ben
This story is shared by a family who lost a child to MCADD. On February 19, 1998, Ben entered our life. He was a beautiful, full term baby boy and our third child. Ben received the minimum state-mandated newborn screenings after he was born and was thought to be healthy. During routine well-baby check-ups, Ben was thought to be a typical child. He was growing and developing normally. During his [...]
Michael
This story is shared by a family whose child has GA-I. On December 16, 2001, I laid my 14-month old son Michael down for his afternoon nap and continued to prepare for his older brothers’ birthday party. When I tried to awaken Michael from his nap, he was unresponsive. Feeling scared, I contacted the hospital and paramedics. Paramedics arrived almost immediately and transported my son to Kaiser Hospital, Riverside. Once [...]
Damian
This story is shared by a family whose child has 3MCC. Damian was born on April 17, 2008 at 3:41 PM and weighed a healthy 8 lbs. 9 oz. He is our sixth child and all our children had been perfectly healthy, so when the nurse took him to do his first newborn screening test, we really didn’t give it a second thought. And I didn’t have to give it [...]
Josias
This is a personal story shared by a family whose child has GA-I. Joey's conception was deliberate, a Valentine's Day gift to each other. Joey's father and I really wanted a son. So, we were overjoyed to learn that our single attempt succeeded and by mid- March of 1998 we knew we were pregnant. In my prayer life, I sensed I would have a son, and that his name should [...]
Ellie Kate
This is a personal story shared by a family whose child has NKH. My name is Ryan McLaughlin, and I am the proud mother of Elizabeth Kathleen ('Ellie Kate'), who has Non-ketotic Hyperglycinemia. I have been so thrilled and inspired by your web site! I wanted to share our story with you. The world was turned upside-down for us on December 4, 2005, the day our daughter, Ellie Kate, was [...]
Carsen
This is a personal story shared by a family whose child has GA-II. Pure joy arrived in the Richards' home on June 9, 2003, at 4:44 P.M. in the form of a bouncing bundle named Carsen Phillip Alan Richards, the newest member of the Richards clan. Because big brother Caden was diagnosed with GA-II, Carsen was screened at birth using MS/MS technology. The first newborn screening card indicated a problem. [...]
Alena and Mia Rose
This story is shared by a family whose daughters have GALT. Please meet Alena and Mia Rose, our happy and healthy children. They both have a metabolic disorder - classical galactosemia, which is detected through Newborn Screening. Here are their stories. Our oldest daughter, Alena, was born in November 2002 in Portland, Oregon. Portland is right across the river from Washington State. Had we been in Washington, our story might [...]
Jonathan
This story is shared by a family whose son has sickle cell disease. As a Mother of three healthy children and expecting the fourth, we were looking forward to another healthy baby. I knew that I was a sickle cell trait (SCT) carrier. My father was in the Air Force and had been tested by the military and knew that he carried the gene for sickle trait. I can remember [...]
Katie
In Loving Memory of Kathleen Celeste Boiros October 24, 2002 - July 11, 2003. Lost to an Unclassified Fatty Acid Oxydation Disorder (U-FAOD). Kathleen Celeste Boiros was born on October 24th, 2002. She was born on her Auntie Eileen's birthday and she was named after her great-aunt & mommy's Godmother K.C. (Aunt Casey). Auntie Pam would be her Godmother and Uncle Jeff her Godfather. She'd be called Katie. From her [...]
Alli
This is a personal story shared by a family whose child has GA-I. Our family has been very fortunate and I thank God every day. I have no idea where we would be today without Pediatrix (formerly known as NeoGen Screening) and their newborn screening test. When my stepmother was fighting her battle with leukemia, my husband and I decided to save our baby's cord blood for future use for [...]
Olivia
Beta Ketothiolase Degiciency [BKT] This story is shared by a family whose child has BKT. This is our story, so far. . . It all began on February 1, 2005 when our third daughter, Olivia Belle Quinlan, was born. She was a perfect 8 lbs. 15 oz. beautiful baby girl. It was such a wonderful delivery and incredibly happy time for my husband Dan and I. Two days after we [...]
Save Babies Through Screening Foundation Supports Maine’s New CCHD Screening Law
https://www.webwire.com/ViewPressRel.asp?aId=176973
What do successful grads think you should study?
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Former student discusses success in the fashion industry
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How do you best prepare for university?
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