Living with Gastroschisis, Intestinal Malrotation, and Omphalocele
The month of January includes three days devoted to national awareness about the congenital disorders, intestinal malrotation (January 15), gastroschisis (January 30) and omphalocele (January 31). Below, I share my great niece Lorelai’s story along with the stories of two other Easton families.
I had never heard of malformations of the intestines in newborns before, until my nephew and niece’s first born baby was diagnosed with gastroschisis in utero last year. Gastroschisis is a birth defect of the abdominal wall. The baby’s intestines, as well as other major organs, are found exiting through a hole beside the belly button
I was worried about her, as my entire family was, and so were her parents, Levi and Julia, and grandparents, Bill and Connie. We were all praying. As expected, my great niece Lorelai, was born at a San Diego Hospital with her intestines outside of her stomach, and spent the first six weeks of her life in the NICU. My niece Julia slept close by the hospital, so she could spend everyday with her newborn daughter in the hospital, while my nephew reported for daily duty back at the Marine Base, also in San Diego.
With the use of silo, several surgeries, and daily TLC and nurturing from doctors, nurses and her mom, Lorelai was able to go home as scheduled after six weeks in NICU. She is now 21 weeks old, happy and healthy, digesting her food well and growing more everyday. The slowest part of her NICU recovery was beginning to eat. Lorelai began feeds at at just 7 mL after her abdominal closure, but when she was discharged, she she was eating 60-80 mL. Now she eats around 6 ounces!
While anticipating Lorelai’s birth, I decided to do some research, since my brother and his family live 3,000 miles away. I quickly discovered that two families living in very close proximity to me here in Easton had similar situations. I asked these two brave moms to share their experiences in an attempt to raise awareness about gastroschisis, intestinal malrotation and omphalocele.
Here are their stories.
Louisa’s Story (Told by Caroline Sadowska)
My youngest daughter Louisa was born in January 2020 and from the start, I had the feeling that something was not right. She spit up a lot from day one and it had a fluorescent yellow color. Every doctor and nurse I asked said the same thing- babies spit up and it’s completely normal. After three kids, this did not feel very normal, but we packed up and headed home hoping things would improve.
For a few weeks, they did, but around a month later, Louisa stopped being able to hold down anything. After a day of trying to keep down Pedialyte, we went to the pediatrician who sent us straight to Yale Children’s Hospital.
We still didn’t know what was going on, so the team in the children’s emergency room tested her for everything from a heart defect to an infection. During an ultrasound, Louisa was diagnosed with intestinal malrotation with volvulus. Her intestines had not rotated into her abdomen the way they should and had been twisting intermittently since birth. She was in emergency surgery within twenty minutes. Her pediatrician saved her life when he told us to go that night.
We spent the next five days at Yale Children’s Hospital until she was eating normally and free of IV pain relief and nutrition.
We were still at Yale when I looked up an online awareness group for intestinal malrotation. The first name I saw was Jodi Forte. We had never met, but I immediately recognized her as Mrs. Forte from school. I couldn’t believe that in a town of 7,000, there was someone whose family had experience with the same rare condition. It was a connection in the early months that made us feel so much less alone.
Today, Louisa is a thriving toddler who eats a normal diet and keeps us on our toes.
Last February, I joined the team at the Intestinal Malrotation Foundation as Director of Communications. The Foundation is dedicated to supporting families, raising awareness and funding research on intestinal malrotation. This year we launched the first patient registry to collect data about symptoms, diagnosis, treatment, and outcomes among children and adults with intestinal malrotation.
Gianna’s Story (Told by Jodi Marino Forte)
In June of 1998, when I was in my third trimester, pregnant with our first child, my husband and I were told by my obstetrician that he saw something concerning on my ultrasound and he would like me to see the high risk specialist at a nearby hospital. At that appointment we were given the devastating news that our unborn child had something called an omphalocele. An omphalocele is a birth defect of the abdominal wall. The infant’s intestines, liver, or other organs stick outside of the belly through the belly button. The organs are covered in a thin, nearly transparent sac that hardly ever is open or broken. I was sent for an amniocentesis the very next day. Although I was supposed to deliver at St. Vincent’s Medical Center, my case was transferred to Yale New Haven Hospital where I would continue my prenatal care, deliver our baby, and get the care we needed. We also found out at that appointment that we were having a baby girl! That was wonderful news!
Meeting with many specialists at Yale, including a pediatric surgeon, it was determined that our daughter had a large omphalocele which contained liver, intestines, and bowel. I would need to be monitored weekly for the remainder of my pregnancy and our baby would need surgery immediately after birth. As you can imagine, we were in shock. That was a lot to take in, especially since I had an uneventful pregnancy and just days before we thought everything was fine.
Our beautiful daughter Gianna was born on September 28, 1998. Other than the omphalocele, she was healthy and just perfect. We got to hold her for a few short minutes before she was whisked off to surgery. The surgery lasted for about five hours. During her surgery, Gianna’s omphalocele was closed up and the opening was covered with a gortex mesh patch which would be removed when she was a little bigger. The surgery was successful and we were able to see her briefly that evening. Throughout Gianna’s 14 day stay in the Newborn Intensive Care Unit (NICU), she had a few ups and downs but on October 12th we were able to take her home!
We had follow-up visits to the hospital but Gianna was our little miracle and her recovery went smoothly. At 18 months old the doctors determined that she had grown enough to take out the gortex mesh patch, and close her stomach wall up completely. We were told at this time that Gianna had no limitations and she would grow up like any typical child. The only thing we should be aware of was that due to her omphalocele Gianna had malrotation. Malrotation is a problem with the normal formation of the fetal intestines where they fail to arrive in the normal place. In Gianna’s case, this was caused by the omphalocele and the surgery she had at birth.
Throughout the first 19 years of Gianna’s life she had no major problems with her stomach. Certain foods bothered her and we were careful with her diet, but other than that she was perfectly normal. As many little girls do, Gianna dreamed of becoming a ballerina. Gianna’s dream became a reality and at the age of 17 and she moved to Washington, DC to dance with The Washington Ballet in their Professional Training Division. While dancing, many ballerina’s develop injuries due to overuse. Gianna had a torn labrum and required surgery. In late February, 2018, my husband and I went to DC for Gianna’s hip surgery. The surgery went well and she would return to Connecticut with us to recover and begin Physical Therapy. On the drive home Gianna started to become nauseous and began vomiting. We thought it was from the anesthesia but after two days when the vomiting did not subside, we took her to the emergency room. After a CT Scan and other testing it was determined that Gianna had a major intestinal blockage (volvulus).
After several days trying to resolve the blockage without surgery, Gianna was getting worse and was finally rushed into surgery. When the surgery was over, the doctor came out to tell us that things were much worse than they thought. Gianna had gone into septic shock from all the bacteria and was fighting for her life. The doctors described it as the “perfect storm” because of the malrotation and the surgery for her hip. Gianna once again proved her strength and determination and fought through this as she had before. Gianna spent two weeks in the Intensive Care Unit and ended up having four surgeries altogether. On the fourth and final surgery, they were able to close her up with 30 staples. Gianna had a LADDS procedure which is the type of surgery to correct malrotation. Ironically they used a gortex mesh patch to close Gianna just like at her birth, but this time the patch was dissolvable and wouldn’t need to be removed. Gianna was in the hospital for about three weeks total.
It was a long way back after hip surgery and four abdominal surgeries but Gianna persevered and was back dancing with The Washington Ballet by summer. Gianna never gave up on her dream and it took many months of hard work to get her body back to where it needed to be. Today Gianna is living her dream in Boulder, Colorado and dancing with the Boulder Ballet and a professional ballerina.
- January 15 was National Intestinal Malrotation Awareness Day
- January 30 is National Gastroschisis Awareness Day
- January 31 is National Omphalocele Awareness Day
For more information, visit the Intestinal Malrotation Foundation’s website.
Below are addition links for those who would like to learn more about these conditions and these women’s stories:
Intestinal Malrotation and Volvulus Information:
Facts about Gastroschisis: https://www.cdc.gov/ncbddd/birthdefects/gastroschisis.html
Photo credit: Stark Photo Productions, Courtesy The Washington Ballet.