REACH founder Isabelle Schnadig recounts her son’s Hirschsprung’s 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’s, we were totally unprepared for any serious medical condition. We heard the name “Hirschsprung’s” 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 colon. This explained why he could not poop normally: his colon could not relax.
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 cataract on both eyes. As a consequence, he developed glaucoma, and had to get 4 subsequent surgeries to stabilize his condition. He has been followed by Dr. David Walton, the best doctor in the field, every 4 months. Today, glaucoma is his most “stable’ condition.
Adrien grew and became stronger.
When he was 11 months old, his doctors prepared us for the next step: his “pull through” surgery where the intestine is re-connected with the anus. 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 lesson of these years has been the importance of proper hydration.
The colon absorbs water, so without a colon more water exits the body in the stool. Keeping Adrien hydrated has been a focus for us. We have also learned that when Adrien “slows down” (poops less frequently) we MUST perform timely rectal irrigations. Failure to irrigate him can lead 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. Even though Adrien resists the irrigations, their application has spared him discomfort and, undoubtedly, hospital visits.
Adrien has 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. Florajen4kids is the one that has worked best for him. Through interacting with other REACH families, we have discovered that food sensitivities and allergies tend to coexist with Hirschsprung’s. We look forward to more research in this area.
Finally, we have used homeopathic treatments to help him. We believe they have had a very beneficial effect on him including improving his ability to have daily bowel movements and a stronger overall immune system response. Throughout our Hirschsprung’s odyssey, we have been extremely fortunate to have experienced outstanding doctors and care at MGH in Boston. Their clinical expertise is world-class; it has 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, our pediatric surgeon, who has special expertise in Hirschsprung’s disease.
Today, Adrien is a healthy and happy 6 year old boy.
Over the last 3 years, we had only a single emergency hospital visit. During this most recent school trimester, he hasn’t missed a single day of school! What a difference to last year, where over the same period, he had missed an entire month of school days.
We founded REACH to create a community for families and patients struggling with Hirschsprung’s.
We hope that others 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.