Our son, Austin, has Neurofibromatosis Type 1. It is a mouthful so most of us just call it NF. NF encompasses a set of distinct genetic disorders that cause tumors to grow along various types …
Month: May 2017
Luka’s Newborn Screening Story (Propionic Acidemia)
Luka was born on Wednesday, September 14th 2011 and we were sent home on Friday September 16th. Within hours of having him home, we became concerned with his lack of interest in eating, irregular breathing …
Jackson’s Story: A Rare Genetic Diagnosis (Trisomy 4p)
Jackson was born July 30th, 2004. He was 8 lbs, 1 oz and 20″ long. Everything seemed to be going well except feeding. Jackson was taking anywhere from a half hour to 45 minutes to …
A Diagnosis–in the Genes (Osteogenesis Imperfecta)
Our family’s story – Justin’s story – began when Justin was just four months old. He became upset and hard to comfort, sleeping only if I held him in my arms. When our pediatrician saw …
Genetic Counseling: A Source of Information and Support (Fragile X)
I am the proud wife and mother of two – Kymberley, 6 years and Mikey, 22 months old. Kym has been a healthy child, overall; Mikey has not. When Mikey was 10 months old, I …
Prenatal Care and Genetics Care, Interconnected NTD (anencephaly)
My husband Tony and I had decided that once we left the Chicago area and relocated it would be time to have children. In the summer of 1995 we moved to Madison and by Christmas …
Genetics Care, Close to Home…(Noonan Syndrome)
We are currently parents of three children – Molly (age 7), Morgan (age 5), and Brady (age 1). Our middle child Morgan was born 5 & 1/2 weeks premature due to a very complicated pregnancy. …
Genetics Care…for Children and Adults (Hurler-Scheie)
Our son Esteban was born in 1980. At first, he seemed like any other “normal” baby. He crawled in an army type fashion, lying down and using his arms to drag himself. He walked by …
Genetics and Cancer: A Family Journey (Breast cancer)
“Mom, what type of breast cancer did Aunt Barb die from?” It was my daughter Sue on the phone. I could tell by the tone of her voice that it was no casual question. When …
One Family’s Genetic Odyssey…(Joubert)
It was evident that something was wrong with Owen as soon as he was born by cesarean on June 19th, 2007. There was a NICU team standing by already because of abnormalities that our doctors …