Adam in hospital
On 17th February, 2003 our second child was born. But 28 hours later it became apparent that our newborn son was very sick...
Adam had a breastfeed about an hour after birth, but after that first feed he wasn't interested again. I was expressing and feeding with a syringe, and I was worried because he was vomiting after every syringe feed. The midwives didn't seem concerned, but I had an awful feeling that something was not right. At 28 hours Adam began vomiting green coloured bile, and was yet to pass meconium. The midwife was with me and simply said "I'm going to ask doctor to review this baby straight away". The paediatrician arrived within five minutes.
My newborn was rushed to the children's hospital for surgery
The next couple of hours all happened so fast. Adam was transferred to the Special Care Nursery (SCN), and my midwife called my husband, Scott, and told him to hurry back to the hospital. They took some x-rays and found a bowel obstruction.
The paediatrician told me that my baby would have to be transferred to the children's hospital for surgery. A SCN nurse accompanied him in the ambulance while my husband and I followed in the car. I have never felt so helpless in all my life. I kept crying, "This isn't happening" over and over...
The paediatric surgeon spoke to us about various possibilities, including Hirschsprungs Disease and Cystic Fibrosis. He wanted to take bloods to do CF gene sampling. My head was spinning; we had been given enormous amounts of information. By this stage, it was 2am.
Adam's results were negative for Cystic Fibrosis
The surgeon stimulated Adam's bowel to start it working, and I cried with joy at seeing so much meconium pass out of my son's bottom. Over the next few days Adam was having at least five spontaneous bowel motions per day, so the doctors decided that it had been a meconium plug, and that nothing more needed to be done. We took our son home filled with happiness and relief that he hadn't needed an operation after all.
When Adam was two weeks old we visited our doctor regarding his jaundice. We were sent to pathology and we received a phone call later that afternoon to say his levels were too high and that we were to take him to hospital. We received the CF (Cystic Fibrosis) results while there, and they were negative. What a relief! I felt that if it wasn't CF, then we could deal with anything else that was thrown at us!
An official diagnosis
Adam was admitted and they ran a multitude of tests regarding his jaundice, but thankfully all came back clear. They decided he purely had 'breast milk jaundice'. During that admission he had his first rectal biopsy to test for Hirschsprungs Disease. Even though he was still having spontaneous bowel motions, the surgeon was concerned about his slightly distended tummy. The results came back as 'inconclusive', so we were given a theatre booking to undergo a deeper biopsy.
We consulted a paediatric gastroenterologist for a second opinion; I found it hard consenting to a surgical procedure on our month old son when he appeared to be doing so well. But the gastroenterologist agreed with the surgeon and the procedure went ahead. Adam was officially diagnosed with Hirschsprungs Disease at four weeks of age.
Hirschsprungs Disease
Hirschsprungs Disease (HD) is a serious congenital abnormality affecting the normal function of the bowels. A healthy person's bowel is full of ganglion cells, which make the bowel contract and push the faeces through to the anus.
During the sixth week of pregnancy, ganglion cells are formed right through the embryo's developing digestive system. In a child with HD, for some unknown reason, the cells do not make it all the way through to the anus, and stop forming somewhere in the colon (large bowel).
When this occurs, the result is chronic and severe constipation. HD diagnosis is broken into three different categories: Short Segment HD, Long segment HD, and Total Colonic HD. Enterocolitis is a very serious infection in HD patients, and treatment is intravenous antibiotics. Without treatment, enterocolitis can be fatal.
We almost lost Adam as he battled a septic infection
Further surgery would be needed to find out Adam's segment length. But as he was clinically doing very well, the surgeon decided that no surgery would be necessary at this stage. We had weekly appointments with the surgeon to check on his progress.
Smooth sailing up until eight months of age. We started solids and Adam's bowel came to a screeching halt. From eight months to thirteen months of age, he was admitted to hospital fortnightly (on average), receiving bowel washouts and antibiotics for many bouts of enterocolitis.
In March 2004 Adam had his first pull-through surgery. This is where they remove the 'diseased' section of the colon, and pull the healthy bowel down and attach it to the rectum. At this point he had half of his colon removed. We nearly lost him that night after he'd picked up a septic infection in theatre. I'll never forget standing outside PICU (Paediatric Intensive Care Unit) and having Adam's surgeon tell us "He's not looking too good". Those words still haunt me. I thought we were about to lose our 13-month-old baby.
After giving us a sleepless night, thankfully Adam was looking much better in the morning. The antibiotics were working, and after a few days in PICU he was transferred back to the surgical ward.
Adam was fitted with an ileostomy bag
Two weeks later, Adam was back in hospital, needing yet another washout. We knew something was still very wrong. At this stage we were also battling with 'Failure to Thrive'. Thus began our journey with tube feeds. After three months his weight skyrocketed; he actually made it to the 3rd percentile! We were then able to just feed the formula orally. I was terribly upset at having to stop breastfeeding, but I was so happy to return that feed pump to the hospital.
Despite his pull-through surgery, we were still struggling with the constipation, and at 15 months of age, Adam received his ileostomy bag. I was terrified of the idea of my baby having to poo into a bag on his tummy. How would I cope, how would HE cope? Taking care of his ileostomy was hard work initially. It seemed to be constantly leaking, and the excoriation (severe nappy rash) on his tummy was horrific. But with his bag he was finally pain free. His tummy no longer hurt from constant constipation, and he was a much more settled baby who finally started eating, and sleeping.
My mother; Adam's guardian angel
One week later we received the latest biopsy results. He had Total Colonic Hirschsprungs Disease. No wonder he was still constipated, the other half of his remaining colon was non-functional as well. His surgeon was stunned. Considering he did so well up until he was eight months old, it was incredible that his entire colon was not functioning. I believe it was thanks to the magic of breast milk!
We were told that when we went ahead with the ileostomy reversal, we should expect him to be faecally incontinent for at least twelve months, and up to three years. 5th September 2007... when Adam was aged 4 years and 7 months, we went ahead with the reversal. The remainder of his colon had been previously removed and his small bowel was pulled down to his anus.
Adam was incontinent for just three days! He has amazed us, he's amazed his surgeon, but my mum always knew he could do it. She always told me that when we did the reversal Adam would surprise everybody with his determination. She insisted he'd be fine. Mum passed away in March 2007, six months before the reversal. I miss her terribly, but I know that Adam has a guardian angel in his Grandma. Adam has required several operations since Mum died, and I really have felt her presence with us. I'm sure she's in theatre with him, holding his hand.
Adam copes with everything with a big smile
Doing the reversal brought its own problems. Small bowel output is highly corrosive, so it has taken a long time for his bottom to become accustomed to that. We've spent a small fortune in creams and pastes to try and relieve the excoriation (severe nappy rash).
Adam and I have both cried rivers over his painful bottom, but these days he's usually fine with nothing other than paw paw ointment. Thankfully the severe excoriation days are behind us. We are still seeing his gastroenterologist regularly for ongoing issues, but they are minor in comparison to what he's been through.
Adam has endured 15 general anaesthetics including 9 major operations and 6 minor procedures. He's been hospitalised more than 50 times but our admissions are no longer frequent. He has made us so proud with the way he copes with everything that is thrown at him, and has always had a beaming smile. He is an amazing kid who starts school this year, and is now looking forward to his 6th birthday party this month (February); he decided on a pool party and a Ben 10 party in one!
Love and the rollercoaster
Rearch into the genetics of HD is still in the early stages. All we knew was that we had an approximately 12% chance of having another child with HD. I almost decided against having more children for the fear of HD occurring again. But of course even with the rollercoaster ride we've endured with Adam, I can't imagine our lives without him. So that is how I looked at my future children, healthy or not. Our third son, Shawn, arrived in August 2005. He passed meconium when he was only six hours old, and I cried with relief knowing that dirty nappy meant it was very unlikely that he would have HD; and he doesn't.
Shawn is three now, and is starting to get into the fun with his two older brothers. They all swim and play games together. Adam has a very strong bond with his older brother, Joshua. I describe them as soul mates. Their favourite things are playing PS2 together and swimming in our pool together. Whenever Adam is in hospital, Josh is constantly asking how long until he comes home. Josh was not quite three years old when Adam received his ileostomy bag, but he immediately started calling it "Adam's special tummy" and that stuck.
I've met some wonderful mums online who also have children with HD. One of my friends set up a support group website for HD families here.
If you know of any families on our same rollercoaster, please direct them to this web address. There is an amazing bunch of mums there ready to welcome new friends with loads of advice and support.
Michaela
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