REACH founder Isabelle Schnadig recounts her son’s Hirschsprung story.
“When Adrien was born, I knew intuitively, as a mother of three older children, that something was not right.”
Although he looked healthy, he refused to nurse and was unable to have a spontaneous bowel movement. When I was pregnant, Adrien had been diagnosed with Down syndrome. Although we were prepared for Down syndrome, we were totally unprepared for any serious medical condition. We heard the name “Hirschsprung” for the first time four days after he was born. His abdomen swelled and he was in pain. He had to be rushed from our local hospital to the Neonatal Intensive Care Unit (NICU) at Massachusetts General Hospital (MGH). There, a biopsy confirmed the doctors’ diagnosis: there were no nerve cells (ganglia) in his entire colon. He had Total Colonic Hirschsprungs disease. This explained why he could not poop normally
A week after his birth, Adrien got an ileostomy.
At first it was strange and challenging. His stoma was a new body part we had to get used to and, of course, we did. With time and expert coaching we learned how to change and bathe him. At one month old, he had two other surgeries for congenital cataracts on both eyes. People with Down syndrome have an increased risk of developing cataracts both at birth and later in life. As a consequence of the surgery, he developed glaucoma, which required a number of additional surgeries to stabilize his eye pressure. We are fortunate to have had one of the world’s leading pediatric eye surgeons, Dr. David Walton, operate on Adrien and follow him subsequently. Today, Adrien’s glaucoma is stable and we feel lucky to have had access to such outstanding medical care.
Adrien grew and became stronger.
When he was 11 months old, his doctors prepared us for the next step: his “pull-through” surgery where his dysfunctional colon was removed and the intestine is re-connected with the rectum. Once again, the experts at MGH made the whole procedure seem routine. We took Adrien home from the hospital several days later. The pull-through surgery put Adrien on the road to a healthy childhood, although with multiple challenges and setbacks.
The most critical lessons of these years have been: the importance of proper hydration and becoming self sufficient in administering bowel irrigations.
The colon absorbs water, so without a colon more water exits the body in the stool. Keeping Adrien hydrated has been a significant day-to-day focus for us. When he is properly hydrated, he uses the bathroom more frequently and this helped him develop the habit of pooping more frequently. We have also learned that when Adrien “slows down” (poops less frequently) we MUST perform timely rectal irrigations. Failure to irrigate him often leads to distended bowel, significant discomfort and sometimes enterocolitis. At first, it was challenging and uncomfortable for us to get used to doing the irrigations. But, with time and practice we became very effective. In turn, our ability to manage irrigations gave us a real sense of independence and empowerment over this disease that had turned our world upside down. And even though Adrien resists the irrigations, once they are done, he is the first to say “all better”. Bowel irrigations have spared Adrien discomfort and hospital visits; they are pivotal in maintaining his health.
Adrien has also been diagnosed with multiple several food allergies, ranging from the severe (egg), to more moderate (dairy, wheat, potatoes, and certain fish). He is consequently on a restricted diet which we supplement with probiotics. Many good products are available over the counter today. Through interacting with other REACH families, we have discovered that food sensitivities and allergies tend to coexist with Hirschsprung disease. We look forward to more research in this area.
Finally, we have used homeopathic treatments to help him. Although clearly not a substitute for traditional western medicine, we observe that they have had a beneficial effect, including improving his ability to have daily bowel movements and a stronger overall immune system response.
Throughout our Hirschsprung odyssey, Adrien has been extremely fortunate to have experienced outstanding doctors and care at MGH in Boston. Their clinical expertise is world-class; it has literally saved our son’s life. In addition, the doctors’ attention goes beyond treatment to include the psychological demands of this disease. We remain in close contact with Dr. Allan Goldstein, one of our pediatric surgeons, who has special expertise in Hirschsprung disease.
Adrien’s Down Syndrome is a complicating factor.
Adrien’s expressive communication skills are negatively impacted by his Down syndrome condition. This makes it difficult for us to know what is going on with him. Fortunately, a mother’s sense often fills in the gaps. In general, if you think something is wrong, you are probably on target. It can be difficult to trust those intuitions, in particular in the face of doctors and experts. Stick to your guns!
One unexpected benefit is that Adrien’s Down syndrome qualifies him to receive care from Dr. Brian Skotko, the leader of the Down syndrome Clinic at MGH in Boston. (For more info on DS clinics click here: dsc2u.org) Adrien began his visits to the clinic when he turned eight years old. This coincided with improvements with his Hirschsprungs. As we regained a sense of control over our lives, we felt more confident to pursue additional care pathways. It was at this point that he was diagnosed with moderate sleep apnea.
With the help of a social story, (see button below) Adrien learned to tolerate a nasal CPAP mask during the night. This has made a huge difference in the quality of Adrien’s restorative sleep. He has more energy, is more alert and his overall disposition has improved with its consistent use.
More recently, we have begun to address Adrien’s severe seasonal allergies—(if you are wondering how one guy has so many challenging medical conditions, we are too!). In December 2023, he started desensitization treatment with an allergist. He receives shots every two weeks; and it has already made a huge impact on his ability to deal with seasonal pollen in our climate. As an example, in past spring seasons, we would average between 10-15 irrigations per month during the peak pollen months (April-May) This year, he had only 4 irrigations. We claim this small victory!
Today, Adrien is a healthy and happy 18 year old teenager.
He is enrolled in a special education program and classroom in our local high school in Concord, Massachusetts. He has an individualized education plan (IEP), excellent teachers and the broad support of the educational community, including the typical kids he interacts with regularly. He participates in unified basketball and track, which allow him and his classmates to practice and compete with other special needs classrooms in the region. Typical kids also participate, learning mentorship and other valuable skills. Once again, we recognize how lucky we are to live in this community. We recently filed for guardianship, a legal process that gives us the ability to take care of and make decisions for Adrien as a legal “adult”.
We founded REACH to create a community for families and patients struggling with Hirschsprungs.
While not a day goes by where we forget Adrien has Hirschsprungs disease, we are grateful for all of the progress that has happened in the last eighteen years. We also hope that other families and patients with find strength and inspiration through this organization, sharing their experiences and providing mutual support as we seek to find helpful treatments and ultimately a cure.
