Family Stories Archives - Save Babies Through Screening Foundation

Margaret Doll
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Margaret Doll

admin2021-08-19T04:36:52+00:00

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 not effective until the baby was several months of age-not always perfect-and too late to prevent early brain damage. Bob Guthrie's original inspiration to develop a test for PKU came from [...]

Margaret Dolladmin2021-08-19T04:36:52+00:00

Keagan
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Keagan

admin2021-08-19T04:36:25+00:00

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 a nasal feeding tube placed because he was losing weight. He was 9 months old at that time and was only 11 lbs., 8 oz. The doctors found out that his [...]

Keaganadmin2021-08-19T04:36:25+00:00

Nora
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Nora

admin2021-08-19T04:35:54+00:00

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 gave birth to a beautiful full-term, healthy girl. My pregnancy and delivery were normal. Nora was a very content and happy baby, developing normally. On August 9th, I left her for [...]

Noraadmin2021-08-19T04:35:54+00:00

Rebecca
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Rebecca

admin2021-08-19T04:35:20+00:00

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 have 10 fingers and 10 toes, and that her Apgar scores come back in the normal range. Well they did, and after a 2-day hospital stay, we went home. That’s when [...]

Rebeccaadmin2021-08-19T04:35:20+00:00

Alex
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Alex

admin2021-08-19T04:37:28+00:00

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, and I work out 2 hours a day. I'm already losing weight." This is a luxury afforded to a rare few. So is the inexpensive comprehensive newborn screening with tandem mass [...]

Alexadmin2021-08-19T04:37:28+00:00

Nikki
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Nikki

admin2021-08-19T04:37:53+00:00

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 to our house for the 24 hour visit, she asked if we wanted to have the expanded newborn screening test performed, and as we had with our first child, we agreed. [...]

Nikkiadmin2021-08-19T04:37:53+00:00

Ben
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Ben

admin2021-08-19T04:40:24+00:00

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 brief 2½ years of life, Ben had learned to swim, to identify landmarks on the way to his grandparents' house, to distinguish among the vehicles his various grandparents drove, to drive [...]

Benadmin2021-08-19T04:40:24+00:00

Michael
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Michael

admin2021-08-19T04:38:06+00:00

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 there, several ER staff started to work on my son. At one point a doctor asked my husband and I to leave the room while they intubated my son. We refused [...]

Michaeladmin2021-08-19T04:38:06+00:00

Damian
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Damian

admin2021-08-19T04:40:13+00:00

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 a second thought until Damian was five days old. That’s when the pediatrician called us personally at 7:00 PM. I instantly knew something was wrong. She told us that Damian’s newborn [...]

Damianadmin2021-08-19T04:40:13+00:00

Josias
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Josias

admin2021-08-19T04:39:46+00:00

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 be Josias. I looked in the bible and read the story of Josiah and found that the bible figure had been responsible for restoring true worship in the house of God. [...]

Josiasadmin2021-08-19T04:39:46+00:00