Our Kids / Stephanie & Jack D2HGA I’ve been meaning to write Stephanie’s story (and now Jack’s story) for a long time. It just seemed like such a monumental task. The recent death of a very special baby boy with
Our Kids / Sherry D2HGA My daughter Sherry was born with D2HGA. It was still a very novel disease at that time. I think there may be about 60 D2HGA’s globally? At birth, she was tiny. Even at 36, I was
Our Kids / Grant & Sebastian Propionic Acidemia Our story with PA started out the same as many of yours. Our sons were born looking perfectly healthy, besides being born six weeks early and being twins. Everyone that saw them
Our Kids / Sam Isovaleric Acidemia My pregnancy and delivery with Sam were normal. After he was born in 1993, he started to vomit, and it became progressively more over his first few weeks and was projectile. He had some
Our Kids / Michael Glutaric Acidemia, Type 1 My name is Michael and I have Glutaric Acidemia type 1. I am in a power wheelchair which I drive with switches near my head. I also have a communication device which
Our Kids / Kumiko MMA, Cbl C Kumiko was born September 12, 2001. I was 41 years old so we had an amniocentesis done. Without any history to indicate a MMA they didn’t think to look for such a rare
Our Kids / Kristie Lee & 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
Our Kids / Kate Propionic Acidemia – Newborn Screened! Our family and friends were quite surprised when we told them over the Christmas Holiday 2006 that we were having a baby. We had been married 13 years and we were
Our Kids / Josh Glutaric Acidemia, Type 1 Hi. My name is Josh, I am 23 and I have GA1 also known as Glutaric Acidemia Type 1. I have had this from age 2 it is cause from to much
Our Kids / Johnny MMA, Mut 0 – Our Trip to the NIH Our NIH Visit, by John and Lourdes (Johnny, 6 Yrs. Old, MMA mut0) This is an account of the week we spent at NIH, participating in the clinical
