Hirschsprung's Heroes

Meet our group of HD Heroes!

Haylie

Haylie was born on May 2, 2018 at 36 weeks. Mom was hospitalized the last month and induced early due to recurrent kidney infections. Haylie arrived very quickly (within 30 minutes!) at 11:33 am. Due to her quick arrival, Haylie was having trouble breathing so she was taken directly to the NICU.   In the NICU, she was diagnosed with respiratory distress and jaundice and was placed on a breathing machine and phototherapy. At this point, Haylie had already pooped and the doctors and nurses didn’t suspect anything else was wrong.

However, within a few hours we knew something else was wrong. Haylie couldn’t stay awake for more than a couple minutes at a time. She wouldn’t feed more than 1-2 ounces of milk at a time before throwing it up, and her abdomen was swelling.  

The NICU doctor’s did test after test, but they couldn't figure out what was wrong. For eight long, excruciating days we watched our baby girl fight to survive. 

Finally, on the eighth day, one of the NICU doctors reading through our family history noticed her father had been born with HD and consulted with a pediatric surgeon. Within hours, Dr. Retrosi performed a full-thickness rectal biopsy, which later confirmed a diagnosis of Hirschsprung’s disease. 

We were devastated by Haylie’s diagnosis, and we knew there was no cure for HD. Dr. Retrosi explained the treatment plan to us of rectal irrigations four times a day until Haylie was big and strong enough to undergo a pull-through procedure at roughly a year old.

Unfortunately, within the first 2 months of Haylie’s life, despite doing the rectal irrigations four times a day, we were in the Emergency Department three times for a life-threatening bacterial infection called enterocolitis.  At two months old, Haylie needed an emergency ileostomy to bypass the affected intestines and divert the stool until the pull-through procedure. 

After her ileostomy Haylie did well and was thriving. At one year old, Haylie was supposed to have the pull-through surgery but, unfortunately, 4 hours into a 10 hour surgery, we received heartbreaking news. Haylie has TOTAL COLONIC HD, which means Haylie’s entire colon (large intestine) was affected and needed to be removed as well as the last 30 cm of her small intestine. Dr. Retrosi also told us he couldn’t do the pull-through surgery at that time because Haylie’s small intestine was in too bad of shape and we would have to keep the ileostomy and give her body time to heal before trying the pull-through again in a few months.

Three months later, Haylie went back into the operating room with the plan to remove the ileostomy and do the pull-through surgery. Dr. Retrosi and Dr. Wiseman (who was Haylie's dad's surgeon in 1987 and was now consulting on Haylie’s case) both told us Haylie was the worst case of HD they had ever seen in their combined 40+ years of experience. Due to the fact that the entire large intestine had to be removed as well as 20 cm of the small intestine, there was too much manipulation of the intestines and Dr. Retrosi and Dr. Wiseman felt it was best to keep her ileostomy and give her intestines time to readjust and give her pull-through site a chance to heal. Therefore, when Haylie came out of surgery, she still had her ileostomy.

Three months later, again Haylie went into the operating room to have her ileostomy reversed. We knew immediately that the pull-through wasn't working when Haylie was still not able to pass gas or stool on her own. We were back to doing 3-4 rectal irrigations a day to clear out the stool.

After surgery, Haylie was extremely sick and not able to keep anything down for weeks. Haylie had to be fed nutrition through her IV.  During this time, Haylie developed an oral food aversion and would not eat/drink anything by mouth. After 3 months, Haylie was able to be weaned off the IV nutrition and she had a gastrostomy feeding tube placed in her stomach so that we could give her formula and nutrition. Haylie was hooked up to a feeding pump and an IV pole for up to 23 hours a day. Haylie was also diagnosed with iron deficiency anemia that required monthly IV iron infusions. 

Dr. Retrosi and Dr. Wiseman could not figure out why the pull-through didn't work.  Dr. Retrosi then consulted with Dr. Jacob Langer at Toronto Sick Kids, as well as Dr. Alan Goldstein in Boston and Dr. Marc Levitt in Washington and over the following year, Haylie had 2 additional major abdominal surgeries, 2 more biopsies to make sure we weren’t missing a section of affected bowel and 5 rounds of anorectal Botox injections. All proved to have no benefit. 

At three years old, after we talked to Dr. Retrosi, Dr. Wiseman, Dr. Langer and Dr. Levitt, and we explained that we could no longer hold our daughter down while she was kicking and screaming to do the rectal irrigations, we decided Haylie had to go back to having an ileostomy once again. 

Over the next year, Dr. Retrosi consulted with Dr. Langer and Dr. Levitt. The decision was made to travel to Washington, DC so that Dr. Levitt could perform a re-do pull-through surgery (There are no pediatric surgeons in Canada who are qualified to do this procedure). In November of 2021, (during COVID) we travelled to Washington to see Dr. Levitt at Children’s National Hospital. 

Dr. Levitt performed another biopsy and determined that Haylie needed a redo pull-through surgery to remove the inflamed rectal pouch that was created in her first pull-through surgery. He had to remove some more of her small intestine as well as he attached her small intestine (ileum) directly to her rectum. Once again, Haylie had to keep her ileostomy for a few months to allow the new connection to heal, but Dr. Levitt was confident this would solve the issue of Haylie not being able to pass gas or stool. We were told to expect 20-30 poops a day initially!  We were so excited and soooo ready for poop.

But again, after returning home and Dr. Retrosi closing her ileostomy 3 months later, Haylie still couldn’t pass gas or poop. It was devastating. We were back to doing the dreaded rectal irrigations twice a day.

Over the next two years, we tried several things including an additional 8 rounds of Botox injections, pelvic floor physiotherapy, biofeedback therapy, massage therapy, child psychology and multiple different medications and nothing worked. Haylie was still unable to pass gas or stool on her own. In March of 2024 just before her sixth birthday, after struggling mentally and physically to do the irrigations on Haylie for another two years, we again had to make the difficult decision to go back to an ileostomy. 

Thankfully, since Haylie had her last ileostomy surgery, she is doing fantastic! She is eating everything in site, growing and thriving. Haylie has had a total of 30 surgical procedures in the operating room and has spent over 200 nights in Children's Hospital. Although her life has been ruled by HD, Haylie has never let her diagnosis slow her down. Haylie is now in Grade 1 and she loves gymnastics, dance, swimming, biking and playing with her big sister Jaedyn and her friends.

~ From Haylie's mom Jayme

 

Mike

I was born on April 7, 1987 in Dauphin, Manitoba. At that time, very few doctors knew what HD was, let alone how to treat it. Shortly after I was born, I wasn't eating, I started throwing up and my stomach was really distended. The doctor in Dauphin contacted the on call pediatric surgeon in Winnipeg, Dr. Wiseman, and when I was 36 hours old, I was air lifted to Children’s Hospital in Winnipeg for an emergency colostomy that saved my life. 

 

Charlie

Charlie was born at 35 weeks and came out into the world fast and furious after 1.5 hours of labour at 1:02AM on September 27 2007. He was born 5 weeks early due to Mom’s pre-eclampsia and decided it was time to exit the womb and enter the world.

When Charlie was born, he latched immediately; however, due to his low sugar levels, he was required to have some formula. He drank a whole little bottle that first feeding.

However, things quickly turned. Charlie was brought to the nursery as mom was really sick after labour and required medical intervention.

Overnight, it was discovered that Charlie's sucking ability was very weak due to being a premie and the nurses had to gavaunge him (used a tube put into his mouth and into this stomach) to feed him. By 8:00AM Charlie was brought to mom to try and nurse, but he was very tired and was not interested in trying to latch. Mom started to pump and feed Charlie the colustrum by bottle. Overnight, Charlie passed his meconium 2 times.

Charlie started to loose his body temperature around 1:30PM and was placed in a warmer water bed. He was to stay in the bed all of the time except for feeding or changing. Again, mom changed 2 more diapers with meconium.

Around 5:00pm, we noticed Charlie's belly starting to get really distended and his breathing was laboured so we asked the nurse to come. The nurse whisked him off to the nursery to do some tests.

From 5:00pm- 8:00pm, the nurses observed Charlie while waiting for a doctor to come and assess him from the NICU. That night around 10:00PM Charlie was taken to the NICU. We had no idea what our journey was going to be.

The NICU doctor came to talk to us and said he was extremely sick and would require morphine to relax his body as it was working very hard and because premature babies sometimes forget to breathe, he would be on a ventilator.

That night, Mom and Dad went in to see him around 12:00AM when he was finally settled with the ventilator, NG tube and far too many IVs in his feet and hands.

Charlie was placed on a special feed that was made exactly for him and his body requirements (TPN).

He was on the ventilator from Thursday-Sunday where it was determined that he would be weaned off, and it was a success. A few hours after the ventilator was taken out, he had a massive stool all over one of the nurses. We had no idea why it was so forceful, but looking back we know exactly why.

On Monday afternoon, Dr Nathan Wiseman (rest his soul as of Dec 2023) came in and put his hand on Charlie’s distended belly and said, this kid has Hirschsprung’s disease. Dr Wiseman performed a biopsy of the tissue of the intestine through the anal opening and this was sent off to the lab for pathology to see if Charlie had any ganglion cells in the intestine.

Dr Wiseman was convinced Charlie had HD so we started to treat him as such. He was given 1 per day enemas in the NICU and stimulation to help him poo.

We got the results back on Thursday (Charlie was now one week old) and it was positive for HD - Charlie had no ganglion cells in his small intestine. We continued with the enema regiment 1x a day, and on Friday, Charlie was allowed to finally nurse. He was weighed before and after to see how many ounces he was drinking.

Charlie continued with TPN until the following Thursday (he was now two weeks old) when Mom was called to spend the night on Wednesday night to see if he could accept full feeds round the clock. By Thursday morning, he was doing great, so it was time for the car seat test, hearing test and a few feeds with no wires attached. He was finally ready to come home!!

At 2 weeks old Charlie came home on a regiment of 3x a day enemas with rectal stimulation to keep his intestines clean of stool. This was our regiment for the next 7 months when he was finally big enough (Dr Wiseman wanted Charlie to be 15lbs, but he was only 11lbs at surgery) to perform his pull through surgery. He had his surgery in April 2008 and we spent 7 days in hospital. It took 5 days for Charlie's intestines to wake up, but they finally did and he was a pooping machine!!

We don’t know why, but at 6 weeks post surgery, he stopped pooping fully on his own, and it was sporadic. So back to the enemas we went and now we were given a Hayguard (metal dilator) where we had to increase the size every few weeks to make sure Charlie's anal sphincter was dilated.

At 2 years old, Charlie was scheduled to go for an orchioplexy and also another biopsy to see what the reason was for not pooping. This came back inconclusive and Dr Wiseman said we would wait for a bit and see how things go. He also discussed the possibility of doing a sphincterotomy.

We continued this regiment with daily enemas until Charlie was 4.5 years old. He was fully potty trained at this point as he would have his enema and go and sit on the toilet and express it. Just prior to Charlie going to Kindergarten, we had a chat with Dr Wiseman about how it was not ok that we had to hold down our son to do his procedure and he would cry and scream. That’s when Dr Wiseman decided that it was time to try Botox injections on Charlie. He was one of the first HD kids to receive this in MB.

We finally set up the first injections and we were quite discouraged when nothing was happening. However after 8 weeks since injections, Charlie started pooping on his own! We were so pleased - but there was no reason after this amount of time that he would start to poop as the Botox would be fully worn off.

For the next number of years, we continued with Botox injections, every 3 months regularly.

When Charlie was around 9, Dr Wiseman did another biopsy to make sure that the ganglion cells were still present. At this point, it was determined that Charlie had skipped cells, present but not fully. So we had a choice, we could continue with Botox, or do a repeat pull through.

We decided to continue with Botox regularly and see what happens.

Charlie continued with every three months in the OR for Botox injections until he was 12, then it was 4 months to 6 months to 8 months. Charlie has endured 3 major surgeries and 22 rounds of Botox.

He is now almost 17 years old and has not required Botox since he was 15. He is able to sit on the toilet and stool, albeit takes a long time for him to evacuate, but he can do it.

He has learned what he can eat and what he cannot and tried to keep to a healthy and full diet. He knows when he feels bad and what needs to be done.

He has come so far in his journey. While HD ruled his life as a newborn, toddler and preteen, he has found his love for sports. He is an Allstar basketball player, a setter in volleyball, has a 3rd Dan Black belt in Taekwondo and is training toward his Masters (4th) next September. He is an avid scholar and is currently in Grade 12. He would like to become a NICU nurse, to help all the little babies and their families work through their health issues. He is a superstar and a try testament of what strength, determination and will look like.

~ From Charlie's mom Melody

Thomas

I was diagnosed with Total Colonic Hirschsprung’s shortly after birth, and 26 years later it’s still something I’m learning to manage everyday. 

It’s a condition that has undeniably shaped who I am and how I live my life, but it’s also never been a label I felt should limit what I’m capable of accomplishing. 

As a board member, I draw upon both my personal experience with HD, and the knowledge from my career as a Psychotherapist working in community mental health, private practice, and now our medical system, to provide support and system navigation to children and their families.

Jubilee