Charlie CHAMP is the mascot of the small registered Charity we run as a family. We have sent Charlie all over the world over the last two years for other Hirschsprung’s Families to share their journey with the disease, to have a little adventure with the mascot and to share photos of their time with Charlie. We started this as a way to keep something to show Jacob when he is older, that he isn’t the only child with Hirschsprung’s and all that comes with having this disease. I’d love to be able to publish the whole journal in some way, but I’ve no idea at this point how or what to do with it!
After 2 years, I have finally added Jacobs story to the journal. Here it is below.
Jacob’s Story for CHARLIE CHAMPS Journal
Two years ago when this journal started I wrote a brief ‘Hello’ and a snippet of Jacobs journey with his Hirschsprung’s Disease. Now the journal is coming to an end, I wanted to write about his whole journey.
Jacob was born after a fairly uneventful pregnancy, he was distressed during labour and the labour resulted in an emergency forceps delivery. I was very poorly and lost a lot of blood, despite his rough entrance into the world, Jacob appeared well on first inspection, crying and all fingers and toes accounted for.
As a first time Mum I didn’t really know what to expect, Jacob to me seemed to be a normal baby, he was sick after his feeds – but that’s what all babies did, right? Wrong.
Because I was so poorly after giving birth to Jacob the midwives suggested they took Jacob into the maternity nursery and take care of him overnight once all visitors had left from the ward. I was reluctant, but exhausted, poorly and not my usual feisty self so I let them take him into the nursery while I got some sleep. Thank God I did, because they woke me in the night to tell me Jacob wasn’t feeding as he should, he kept being sick and they asked if he had passed a bowel movement. He hadn’t. They immediately called the on call doctor to come and review Jacob and moved him to Special Care, there they explained he had something wrong it could be a number of things but they would be transferring him to Manchester Children’s Hospital by ambulance and told me I should ring my Husband. I have never felt fear like it, a first time Mum, only 21 years old, in the black of night in special care while everyone was running around trying to help our baby. I rang Gareth and he got up the hospital as quick as he could. Soon after they got Jacob into the ambulance, by this time he was really sick, we weren’t allowed in the ambulance with him, it was full. There was Jacob full of equipment and in an incubator, a paramedic, a driver, a nurse and a doctor – there was no room for Mum and Dad, talk about feeling helpless. They went off sirens blazing and we followed in the car.
When we arrived they admitted me onto the maternity ward at St Mary’s as I was still poorly myself from bleeding excessively and they admitted Jacob onto the neonatal intensive care unit. After a while a doctor came to see us, they had done tests and they knew he had a problem with his bowel but they didn’t know what, they were taking him to theatre for exploratory surgery to find out what. Jacob was 2 days old, this is not what we had planned.
After an absolute age, hours and hours, the surgeon came back and told us what they had found. Jacobs bowel was back to front (malrotation) and was twisted also. They had also discovered he had part of his bowel missing (colonic atresia). They explained they had fixed the problems as best they could and now it was a case of waiting for him to recover, feed and finally poo.
That didn’t happen. He continued to do very poorly in NICU, he couldn’t hold his feeds by bottle or breast at all and couldn’t even tolerate tube feeds without vomiting, he lost weight, still wasn’t pooing, became very tired and barley opened his eyes. He was inside his incubator, wearing nothing but a nappy that was miles to big covered in wires and tubes. Not only could we not touch him, but when we were eventually aloud to change his nappy through the incubator windows, it was terrifying.
On day 5 of Jacobs’s life the lab made an unexpected phone call to the ward, they had discovered during a routine biopsy that Jacob didn’t have any nerve cells in his bowel, suggestive of Hirschsprung’s Disease. This took everyone by surprise. He had a rectal biopsy and it also confirmed there was no ganglion cells (nerve cells). They immediately took him to theatre and created an ileostomy. He was diagnosed with total colonic hirschsprung’s disease.
Once he got his ileostomy he progressed fairly well, although feeding and weight gain remained an issue throughout his babyhood into toddlerhood. He was diagnosed failure to thrive throughout that time and given various supplements, TPN (fed through his heart) and tube feeds to help him grow.
When Jacob left Manchester Children’s Hospital, for various reasons, we transferred his care to Alder Hey Children’s Hospital. From being around 8 weeks old, this is where Jacob has received his care, they are AMAZING, and I cannot thank them enough.
Jacob has been in and out of hospital throughout his life, he is seven now. He has had 5 major abdominal surgeries, including, removal of the entire large bowel, fixing of his malrotation and twists, fixing of his atresia, insertion of a feeding tube – usually a minor procedure but due to Jacobs anatomy being in the wrong places because of the malrotation and other complications he needed an open invasive surgical placement of the tube. He also had his ileostomy reversed when he was around 18 months old, he had a j-pouch created. Unfortunately once his stoma was closed Jacob become very poorly, was unable to pass a bowel movement without the aid of catheters, wash outs, enemas and such and ultimately got a life threatening bowel infection called Hirschsprung’s Associated Enterocolitis which lead to him being very poorly and having his ileostomy back when he was around 2 or so, he still has this ileostomy now. In all, for minor procedures and major surgeries we have walked through those theatre doors and laid our Son in the arms of the surgeons in excess of 40 times. It never does get easier. We have had a vast amount of ward admissions for him being unwell, sometimes it’s a quick fix and sometimes we’ve been on the ward for weeks that lead into months.
Jacob currently has an infection in his bowel that will not go away, it is in the j-pouch they created during his reversal surgery. Around 1 week in each month Jacob requires antibiotic catheters into his bowel at home to help fight off the infection and keep him well. His ileostomy has ulcers that need to be burnt away in theatre and are causing issues with his bags sticking and making the bags leak anywhere up to 10 times a day sometimes. When this happens it makes his skin raw and bleeds which makes the bags not stick which makes his skin worse – it is a catch 22 situation really and we just do our best with the things we have at home to be able to help him with that.
Aside from his bowel abnormalities, Jacob has other difficulties. He has learning difficulties, global development delay, speech and language delay in both his spoken language and his understanding of words that are spoken to him, autism, dyslexia, dyspraxic tendencies and irlen syndrome.
Jacob is undergoing genetic testing to see if all of his difficulties are caused by a flaw in his genetic makeup which is responsible for all his difficulties. In the words of his geneticist ‘It is like finding a needle in a haystack, the genetic cause is there it is just a case of finding it’.
He has had genetic tests for various things that haven’t really shown anything that could be the cause of his issues. However as I type we are waiting on the results of further tests and Jacob has been put onto a research study which can look in more detail at a person’s chromosomes than is currently available on the NHS. So, basically, my understanding of the geneticist is they are running tests which we are awaiting the results of and if nothing shows there could be other tests he will run within the NHS but ongoing in the back ground is the research study which may or may not discover something that they cannot find during NHS testing, we are told if they do find something on the research study Jacob could be one of a handful in the world/country with that specific genetic disorder they have found in his genes and it isn’t something that is quick. We could get a call in 6 months, a year, 2 years – it is something I am putting to the back of my mind really.
Jacob attended a mainstream school up until April 2014, he has recently (January 2015) started in a specialist school where he is absolutely thriving. He attends swimming once a week and goes to the local Beaver Scouts once a week. Despite everything that has gone on medically with Jacob, he is a wonderful, funny, well rounded little boy. He is an amazing big Brother to our younger Son, Isaac. Because of his difficulties he sees the world a different way to us, he is so innocent, he thinks the best of everyone he meets, he loves talking to everyone, playing and having fun. He wants to be everyone’s best friend! The professionals involved in his learning difficulties say this makes him vulnerable because he has no awareness of danger, including ‘stranger danger’, but you know what, he is cared for by two Parents who never let him out of sight, he isn’t a child who can go play out on the street alone, or a child who can ride his bike around the block on his own because of his additional needs and lack of understanding of dangers but we’d rather forget that and watch him look at the world as this brilliant place where everyone is kind and thoughtful and life is just a big adventure and just be there in the background keeping him safe and letting him talk to everyone he meets.
Thank you for letting us put our story into CHARLIE CHAMPS journal and we hope you enjoy the photos of Jacob and Charlie at school, Jacob took Charlie into school to show his friends and teachers.
Love From, Sara (Mummy), Gareth (Daddy), Jacob (HD Hero) and Isaac (best little brother in the world)