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Henry, MMA, Cobalamin C, Age 2

Our Kids  / Henry, MMA, Cobalamin C, Age 2 Henry was born in 2020 in Missouri. I had a normal pregnancy and delivery. He was born at 39 weeks, but only weighed 5lbs 13oz. This was my first clue that

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Mason, Cobalamin C Deficiency, Age 7

Our Kids  / Mason Cobalamin C Deficiency, Age 7 In the fall of 2014, we were living the “classic” American dream.  We had a 2-year-old daughter, a yellow Labrador and were about to have our son.  Mason was born December

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Taryn

Our Kids  / Taryn MMA Cbl A, Age 22 Hi my name is Taryn and on January 30, 2000, I was born at 3:15pm at Jefferson Hospital in Philadelphia, Pennsylvania and weighed 7 pounds 1 ounce. When I was born,

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Allison and Marcel

Our Kids  / Allison and Marcel Propionic Acidemia Allison is 14 years old and Marcel is 18 months old, both were diagnosed with Propionic Acidemia through newborn screening. Allison was hospitalized for a few days right after her diagnosis was

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Kristie Lee and Johnny

Our Kids  / Kristie Lee and Johnny (3-MCC) 3-Methylcrotonyl-CoA Carboxylase Deficiency This is an update on my children Kristie-Lee who is now 13 and Johnny who is now 8. Johnny was born September 20, 2000. He seemed to be a

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Rare PA Twins

A wonderful experience in the air Traveling with our PA twins has really not been much of an option for us unless it’s a 3-4 hour drive at most. They are easily car sick and long road trips just don’t

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Matthew – ​MMA Cbl A

Our Kids  / Matthew MMA Cbl A Hi! My name is Matthew, I was born in Tucson, Arizona on February 3, 1971. My development was fairly normal. According to my Mom, I met developmental milestones on time, talked early at

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Elaina Rose

Our Kids  / Elaina Rose MMA Elaina Rose was born April 23rd, 2017 weighing 6lbs 12oz and had a head full of beautiful brown hair and she was absolutely perfect. Everything was going great; we got discharged to go home

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Avery

Our Kids  / Avery Malonic Acidemia About two weeks after we brought our new daughter Avery home from the hospital we received a call from our pediatrician’s office telling us that the state department of health had contacted them and

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