The story of Nicole
Benjamin was diagnosed with Hirschsprung’s when he was 20 months old…As many of you know, this disease is generally diagnosed within the first 48 hours of birth, but it took us almost two years. Benjamin and his twin brother Bentley were born 6.5 weeks early and both spent time in the NICU. Benjamin was in the NICU for an entire month, because he was not eating as much as the doctors would like. I tried pumping for him, giving him formula, even donor milk, to no avail. Finally the doctors concluded that Benjamin had “necrotizing.” He would be placed on special formula for a milk protein allergy and would be released to go home.
Benjamin’s first year was really difficult, especially because his twin brother did not have any of the same challenges, it just didn’t make sense. Benjamin almost never slept and when he did, he had to be propped at an incline. My husband or I would have to sleep on the floor in his room while he slept in a crib, on a boppy pillow or on a nap nanny.
Benjamin was so stiff we would refer to him as a 2×4 and he cried every time he went to the bathroom. I took him to specialist after specialist, but we did not make much progress. He saw a Pediatric GI several times for acid reflux, a Physical Therapist for his stiffness, and even an Occupational Therapist.
When Benjamin was 20 months old, and after almost two years of trying to figure out what was going on, I asked the GI Doctor to do a biopsy. He refused, and said that it would hurt my son unnecessarily. I was told Benjamin’s X-Rays were “fine” and that his existing treatment plan was sufficient. I called my Primary Care Physician, and she suggested I get a second opinion.
I just knew that there was something wrong that we had not yet identified – I had spent a full year with specialists and therapists, and I finally demanded the biopsy. We went in for the biopsy on August 24th, and were told the results would be available within two days. I got a call the very next morning and was told to bring Benjamin in for surgery immediately, as his biopsy results indicated a severe case of “Hirschsprung’s,” a word I had never even heard before.
The next few days were a blur – I was told that Benjamin would have “pull through” surgery in 24 hours and that after a few months, he would have a “reversal surgery” and that “hopefully” he would be as “normal as possible” living with this disease.
So, I did what any mom would, and I started researching Hirschsprungs around the clock. I wanted to be as educated as possible, and in those 24 hours, I learned three important things:
1. Hirschsprungs is a life long illness
2. There is no cure
3. My son had special needs and our lives would never be the same
Benjamin’s pull through surgery went well and the doctor told me that he now had a “stoma” and a “colostomy bag,” and that we would learn how to care for both. Unfortunately, Benjamin did not make any improvements that day, and his stoma died. He had to go back in for a second emergency surgery to remove the dead intestine. A week went by, and we were released to go home.
We had in-home nurse care twice a week and we did our best to manage life with a colostomy bag, twin toddlers, and a tween (the boys’ older sister, Paige). The colostomy bag was a challenge: It would explode all the time, it was difficult for Benjamin to sleep comfortably, and we were constantly in the hospital with complications.
In October, Benjamin’s stoma protruded so far that the ER doctor decided we had no choice but to do the reversal surgery immediately, and that hopefully enough time had passed for his intestines to heal internally. After another week of recovery in the hospital, we were told Benjamin should now be able to have a “normal” life.
Life was not normal, not in the least. Benjamin was always sick and at one point went from one bowel movement every two weeks to literally 30 diaper changes in one day. We could barely leave the house, and after months of this with little support from his medical team, we decided to switch from Children’s Hospital to Rocky Mountain Hospital for Children, to work with Dr. Steve Rothenberg. This is where Benjamin received his cecostomy which helped for awhile yet we still knew more could be done.
Sitting on the REACH board I work with surgeons who specializes in HD, in 2018 Dr. Allen Goldstein of Boston Mass General (who also happens to be in the Hirschsprungs research lab) agreed to run more test on Benjamin. The test indicated that the original pull thru surgery had missed so dead area so we scheduled a secondary pull thru for December 2018.
We have been in the best place ever with Benjamin’s Hirschsprungs since the secondary pull thru. To get a full scope of where we are now on our Hirschsprungs journey we need to Rewind to March 12, 2020 the last day of school before what would be the never ending spring break and the start of remote learning. We went into this time with a lot of unknowns just like when we first found out Benjamin was diagnosed with HD. As we did when Benjamin was diagnosed we decided to look on the bright side of things and find all the silver linings we possibly could. At this time Benjamin was doing well but still having some streaks and a few days that just were hard with his HD, but we decided that with so much time at home we were going to make school and getting Benjamin on a great routine with his Hirschsprungs, while he was on a semi normal routine with it previously the changes in daily school activities, field trips, celebrations, after school programs ect. We did our best to have a routine but the times varied and the margins for time and consistency were based more on the events of the day!
It wasn’t long before Colorado was placed on full stay at home lockdown orders and at this point because there were so many unknowns we did all school work asynchronous meaning assignments were uploaded and we finished the school year out with mom as teacher and only seeing their teacher once a week for 20 minutes, big bummer for sure but silver lining I could make all the lessons operate around the times that worked best for Benjamin to evacuate and focus on that task and because we were home he didn’t have to raise his hands or wait to go he just went when he felt the urge too. This went on for the duration of the lockdown orders which was quite some time. In July Benjamin had to have a surgery unrelated to Hirschsprungs and since he was going under we contacted his surgeon Dr. Goldstein in Boston (also a board member) and asked if we could remove Benjamins cecostomy button/tube since he was proving to no longer need daily/weekly/monthly flushes to help him, in fact the last time we did a flush was January of 2020. Dr. Goldstein gave the ok and when Benjamin was under the surgeon removed the Cecostomy. I will say that it was one of my proudest moments as his momma and caregiver to see how far he had come after being misdiagnosed, multiple and countless hospital stays and surgeries, a colostomy, pull through a cecostomy placement, redo of cecostomy, Anorectal manometry, botox and a secondary pull through we were officially moving to a new stage of this disease. It was a little scary at first as we had had the cecostomy for a few years as a backup to assist in evacuation and now we had to learn how to use laxative as our main source of control for his Hirschsprungs. Challenge accepted and again while we wish the circumstances of the pandemic are/were different we are again thankful for the time it allowed us to make this our only daily focus. As we approached a new school year my husband and I decided that due to underlying conditions of our other twin Bentley and unsure how the new school restrictions would make Benjamins current plan for Hirschsprungs related issues to be handled at school without causing undo stress and/or embarrassment we decided that we would opt to continue remote learning for the 2020-2021 school year. This decision while not for everyone was based on not only the health risk but for us we wanted consistency with school during unprecedented times. We didn’t know if we sent them to school how that would look for 2nd graders or how stressful it would be for the teachers with so many new perimeters, how much content they would hear based on their seats & teachers talking though masks and what if we had to go remote again what that would look like weeks or months into the school year so for us it worked best for us to start and stay remote.
I will forever consider this as one of the best parenting decisions we have made as it opened even more room to focus on Benjamins Hirschsprungs (thanks COVID for this silver-lining). Fast forward to today and Benjamin has NEVER been in a better place with his Hirschsprungs! He has spent the last 10 months focusing on a laxative regimen and learning how to listen and understand his body and in 10 months we have had maybe a handful of streaks because well its HD and that happens but its no longer a constant but a rare occurrence. Benjamin has solid stool another new for us, I literally cannot believe how excited I get every time we have to help with a wipe and I see solid stool! I guess only an HD parent would know the feeling of getting so excited you jump, scream in joy and laugh/cry at the same time seeing poop! Benjamin has learned what signs his body shows before he needs to evacuate in his case he usually feels like he is going to throw up as he describes it. While there is so many things going on that aren’t great and while we wish we could live life as it was prior to March 12th we feel so blessed for the time home to focus on our Hirschsprungs journey so for us that is a huge 2020 silver lining!
Benjamin is a Hirschsprungs Disease hero and he loves to show off his button and teach people why he is so “special.” At the young age of 8. Benjamin has overcome more obstacles and challenges than most adults, and he wants to be a doctor when he grows up so that he can help other people with his disease.
I am glad that I trusted my parental intuition, and that I did not give up until we found the right doctor.
I will continue to educate those around me about Hirschsprung’s and advocate wholeheartedly for all three of my kiddos, and especially Benjamin – this is my life’s mission