I was born in 1980. 6lbs 8oz, 19in long. I was a full term infant. My mother’s pregnancy showed no signs of the problems to come & she was looking forward to a happy, healthy baby. My family’s history did not contain the words “Hirschsprungs Disease” anywhere in it. I did not have a stool until the 6th day of life. If that occurred these days, it would flag something right away, but back then…..I guess it didn’t.
I continued to have chronic constipation & abnormal stools. The “breaking point” occurred when I was around 12months old. I was staying at my aunt’s house while my mom was at work. I had been napping for quite a bit longer than usual. When my uncle came in to check on me, he found me VERY Lethargic & VERY Warm. He noticed my abdomen seemed abnormally large & when he placed his hand on it, he said it was as “hard as a wooden chair.” They rushed me to a local hospital where they discovered it was an impaction & removed it.
My mother was then referred to University of Iowa Hospitals & Clinics where they did a balloon manometry & biopsy. Hirschsprung’s Disease was diagnosed. My journey through HD had only just begun. I had surgery to remove the effected bowel & a temporary colostomy was put in. The colostomy “didn’t take,” so they lengthened the incision & replaced the first colostomy with a second. This one took a little better, but my colon kept prolapsing through the stoma. My second colostomy was closed on my second birthday. There were the annual check ups at UIHC which I dreaded (but always got out of school for ). I underwent biofeedback for bowel retraining at UIHC in my teens. When I was around 16yrs old, I left UIHC doors for the last visit & headed home. I have not had to go back since.
HD is known for showing it’s ugly head along with other abnormalities. I was not an exception to this rule. Other than HD I was born with a Wry Neck (Congenital Torticollis)-corrected in ’81, an Arnold-Chiari malformation, & I have 3 renal arteries on my right kidney which are all working. I have also had an appendectomy, open cholesystectomy, & a Cesarean Section. I have participated in 2 studies with UIHC & more recently a study through Johns Hopkins on genetics (which I encourage everyone to check out at www.hopkinsmedicine.org).
When a HD patient gets to be my age, you start worrying about offspring. Fortunately, I was blessed with a wonderful husband. We decided to wait with children until we felt that we could handle all “possibilities.” When the time came, my pregnancy went well medically until the end. I became severely pre-eclamptic & required a Cesarean Section at only 34 weeks. We met our angel in July ’04. Other than being premature, she was perfect in every way (no HD) & weighed in at 4lb 8oz. I recall how excited my mom & I were when she passed her first stool on the first day.
As we contemplate extending our family again, I am thankful for websites like this. It is such a wonderful support for families with HD. Back when I was born, we didn’t have the support systems that we do now.
Today, I am happy & healthy. I am a mom - which is what I always wanted to be, but didn’t know if it would be possible. I work outside the home. I lead a full life. No one ever suspects I have had HD or any of the other problems unless I tell them.
I now have 2 lovely daughters both HD free. My newly born daughter was 6lb 12.8oz.
My doctor is dumbfounded that I would still like to have more children. I guess when you've lived through HD & it's "associates," not much scares you medically.
I am grateful for the experiences I’ve had, because they humble me. I am thankful for my family who has seen me through. I salute all of you who are starting your journey through HD—may God bless you all with courage, strength, & patience.
Always remember, “If God brings you to it—he will get you through it!”