Dual Diagnosis of Down Syndrome and Hirschsprung’s Disease
Early in the pregnancy, around 10 weeks, we were told there was a 99% chance Keagan would have Down Syndrome according to prenatal testing. I remember receiving the call from my OB-GYN with the news. I was heartbroken, scared, and overwhelmed—my mind racing a thousand miles an hour. I was with my oldest son, about to have lunch, trying to hold back tears so as not to draw attention in the restaurant. When my husband called, I couldn’t even keep it together to tell him. It was a deeply emotional time for us.
We met with a geneticist but declined further testing due to the risk of miscarriage, given my medical history. Once we accepted the diagnosis, we focused on enjoying the pregnancy and preparing for our little one’s arrival. There were a few bumps along the way, but we were well cared for by my OB-GYN and the Comprehensive Fetal Care Clinic. All ultrasounds showed no signs of Down Syndrome, and we had monthly ultrasounds until I reached 35 weeks.
I eventually developed polyhydramnios, which made it difficult to feel him move, adding to my anxiety at times. Our last scheduled visit to the Comprehensive Clinic was my 35-week scan. During that scan, they noticed the blood flow in the umbilical vein appeared “different.” They then scheduled us for weekly scans every Tuesday at 8:30 a.m. for the remainder of the pregnancy. At my 36-week appointment, they found a clot forming in the umbilical vein, which was both frightening and concerning.
The physician at the Comprehensive Clinic called my OB-GYN to discuss whether Keagan could be safely delivered at our local hospital, which has limited resources. My OB-GYN agreed, and we were sent to the hospital right away to be admitted for induction.
Our little guy was born the next afternoon, August 22nd, healthy and happy. His bilirubin levels were high, so he spent a few days under the light. He tolerated feeds well and was voiding and stooling normally. Born on Wednesday, he was discharged by Saturday. We needed to get his bilirubin checked on Sunday to ensure he didn’t need a bili light at home. When the doctor called with the results, I mentioned he hadn’t had a bowel movement since leaving the hospital and that his abdomen was very distended. She didn’t seem concerned because he had passed meconium in the hospital.
The next day, at his follow-up appointment at the pediatrician’s office, I mentioned the distended abdomen again. This time, the pediatrician said, “Yes, that is concerning.” She sent us to the hospital for an abdominal x-ray and blood work to check his bilirubin again. Before we even got home from the tests—we live just two miles from the hospital—the pediatrician called and told us we needed to take Keagan to Brenner Children’s Hospital ER immediately. She said she had already called ahead, and they were expecting us. We quickly gathered our things and headed to Winston for him to be seen.
When the ER physician came in to examine Keagan, he asked what had brought us in, assuming it was due to his jaundice. I explained, "No, he’s been jaundiced; we’re here because he hasn’t had a BM since Saturday, and his abdomen is very distended." Once they managed to insert an IV, they did blood work and sent him for X-rays. The GI team was then consulted, and when the GI attending examined Keagan, she performed a digital exam that caused stool to shoot across the room. This surprised my husband and me, but not the attending, who immediately expressed concern that it could be Hirschsprung’s Disease.
We were admitted for further evaluation, and a rectal biopsy was performed to confirm the HD diagnosis. Once we had the diagnosis, we waited for surgery to be scheduled. After a five-day hospital stay, we were sent home with instructions to perform rectal irrigations two to three times daily, which we were trained to do before discharge. We managed fairly well with the irrigations at home and eventually received a surgery date of September 23rd.
Before the surgery, the surgeon explained what to expect. Keagan might need a temporary colostomy, but it wasn’t certain. The procedure could take up to six hours, and there were numerous risks involved. We waited, feeling as though time dragged endlessly. After nearly seven hours, we received a call to meet the surgeon in the consultation room. Relief and anxiety washed over us at once.
The surgeon shared that everything had gone well. They removed the affected portion of Keagan’s colon, and he was diagnosed with Short Segment HD. Thankfully, no colostomy was needed—thank you, Jesus! Now, we just had to let our little guy rest and heal.
We were discharged later that week after a five-night stay, and Keagan was doing well with eating. We had to continue irrigations at home for the time being. About two weeks after discharge, we noticed signs of enterocolitis and went to Brenner’s Emergency Department. Keagan was admitted overnight for observation. Upon discharge, we were instructed to do rectal dilations three times a day in addition to the irrigations. Keagan had five hospital admissions within his first year, all due to HD. He developed a food aversion at 8 months old. Initially, he was doing well with purees, but suddenly, he started vomiting anytime he ate purees or cereal. His pediatrician recommended allergy testing, so we scheduled an appointment with an allergist. In the meantime, the doctor advised us to feed him only formula. We had to wait four weeks for that appointment.
At the appointment, the allergist concluded that the issue was GI-related, not an allergy. We waited another week to see a GI specialist, who recommended starting Keagan on a daily probiotic and reintroducing purees one at a time after two weeks. When we tried to reintroduce purees, he rejected them completely. By that point, he had developed a full food aversion and texture sensitivities that weren’t there before. We then began feeding therapy to help him overcome this hurdle.
Things went smoothly for Keagan, aside from eating, until early 2019, when he started having trouble with bowel movements. I reached out to Dr. Levitt in Washington, D.C., and within two months, we had an appointment, which was exciting. Keagan underwent testing with Dr. Levitt and received Botox injections, which worked for about two and a half months. To avoid travel due to COVID-19, we opted to have our local surgeon perform the next round of injections. Unfortunately, the first set administered locally didn’t take, so he required a second set. His final Botox injection was on July 1, 2020, and he’s been doing well since.
Keagan has now started potty training for both bowel and bladder, something I never thought I’d see. I’m thrilled that he’s making consistent progress with bowel movements and is trying to use the potty—it’s more than I ever hoped for!
Life has brought its challenges for Keagan, but it’s been filled with countless rewarding moments, too. While navigating both Down syndrome and Hirschsprung’s has had its complexities, HD has presented its own unique hurdles, particularly with feeding. Some children with Down syndrome experience texture sensitivities or constipation, which can be linked to HD. For Keagan, his feeding journey seemed smooth initially—he was thriving with purees, often eating two jars of baby food in one sitting, both fruits and vegetables. But things changed, and today, at nearly 6 years old, he’s still finding his way with eating. Although he still drinks formula from a bottle with a dietary supplement and prefers to “lick” foods, he has a zest for life that’s inspiring!
Despite his size, which is closer to that of a 3-year-old, Keagan is full of joy and energy. He loves riding his power wheels, blowing bubbles, watching videos, and playing educational games on his iPad. He recently completed kindergarten, where his vocabulary blossomed, and he now forms three-word sentences, which is a big step forward! His critical thinking is remarkable—he knows just how to use a stool to reach what he wants!
We wouldn’t change a thing about Keagan; he’s perfect as he is and brings so much happiness to our lives.
Krystal Wagner