University of Wisconsin–Madison

Category: Family Stories

Austin’s Story (NFI)

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 of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. Neurofibromatosis causes tumors …

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 patterns and overall lack of response to stimulation. On Saturday 9/17 we took him to the walk-in to see a …

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 finish an ounce of formula. He was unable to latch to breastfeed because of a smaller lower jaw, but hospital …

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 him the next morning, examination and testing didn’t show any reason for his fussiness. Although the pediatrician suspected an infection, …

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 started to notice that his development wasn’t where it should be. I can’t count the different doctors, pediatricians and specialists …

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 we had a wonderful secret that we couldn’t wait to share with our family and friends. I knew a lot …

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. Initially doctors thought she was a healthy 6 pounds 2 ounces baby girl but that all changed. At just six …

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 11 1/2 months. He was speaking clearly at an early age. It wasn’t until he was about 1 1/2 years …

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 I asked her why she was asking, her voice trembled, “I found a lump in my breast.” That was eight …

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 had seen on prenatal ultrasounds.  He was not breathing on his own and had to be intubated shortly after his …