A Brave Mum's Fight to Raise Awareness of her Little Boys Rare Disease: Hirschsprungs Disease (HD)

Posted on March 20, 2016 by Amy Goller | 0 comments

My son, Atlantis Garcia, was born with Hirschsprungs Disease (HD). We didn't know he would be born with this disease when I was pregnant as it's not something you can see with an ultra sound or 3D scan.

HD is a lack of cells in the intestine and some cases are worse than others.  One of the best things I can do as a mother is learn as much as possible as I can about HD. I have done this by speaking with other mums who have raised HD children, speaking with other people who have HD themselves and knowing the struggles they went through and the solutions to their pains. The more I know, the more I can help my son throughout his life.

It was early January 2015 when I found out I was pregnant with Atlantis, I was 8 weeks along, it was almost midnight and I was in the ER thinking I had appendicitis as I was in so much pain! It was as much a shock finding out we were having him as it was pure joy. Atlantis was a very happy baby in the womb, always kicking away and my love for him was already so strong. When I was 33 weeks pregnant in July 2015, I was diagnosed with pre eclampsia, of course nothing ever goes the way you think it will!

My doctor told me if I didn't give birth immediately I would start entering the 'eclampsia' stage which is when the seizures start to kick in. I was induced that afternoon but nothing happened for 12 hours and my heart rate was increasing so I was sent for an emergency cesarean section. I was shaking uncontrollably all the way from my hospital room into the surgery room, I couldn't stop myself from vomiting. I closed my eyes and thought about my baby while my partner, Andy, held my hand tight.

When I opened my eyes, my son was being held above the curtain, I teared up, he was beautiful. He was tiny and he wasn't making a sound. He got whisked away and before I knew it, I was falling asleep. I woke up the next morning in immense pain, no one had told me about the after pain of a caesarean! Andy lifted me into a wheelchair and took me straight to see Atlantis. He was sun baking under a UV light with little goggles on, he skin was bright red, he had c-pap tubes in his nose and a little beanie on. I held his hand and he squeezed my finger, my heart had never been so full of love.

Hirschsprungs Disease in a Newborn

The doctors were telling me so many things at once; infection; breathing problems; that I couldn't  breastfeed him yet or cuddle him and that he needed to be taken to a special children's hospital. For the next few weeks I had travelled to Princess Margaret Hospital (PMH) which was in the city, an hour from where I lived. I would go up every morning into 6B, the ward Atlantis was in, and come home past midnight. I would talk to Atlantis and hold his little hands, stroke his head, pat his little bum, I couldn't hold him for a few weeks as he had gone from c-pap to a high frequency breathing machine which was essentially a long tube that went down his throat and into his lungs, pumping oxygen into him. His stomach was constantly moving up and down quickly, the nurses likened it to a car engine quietly idling. 

Atlantis's little 1.8kg body was losing weight, every time he was tube fed milk he would have to have it aspirated out as his little tummy would get distended;  his body wasn't digesting it. He wasn't passing poo yet either and we knew something was wrong, the doctors told us Atlantis would be staying in hospital for longer than expected.

When Atlantis was 3 weeks old I was sitting in the expressing room, watching daytime TV, Andy burst in the room, 'HE'S DONE A POO!' I quickly ripped the pumps off and ran to his bedside with my camera ready! We'd never been that excited over poo in our entire lives. As the days went by, Atlantis came off the breathing machine and then onto c-pap again which was a huge moment for us as we could finally hold him. Finally when he came off c-pap, we could hold him without having a nurse looking over my shoulder and I would spend hours and hours cuddling him, rocking back and forth on a big comfy chair, forgetting anyone was around, blocking out the noise of the rowdy machines. He wasn't very tolerant of milk still so he would have tiny amounts and he refused the boob so he was bottle/tube fed and he would only poo once every few days.

The doctors were constantly running tests. When Atlantis was 7 weeks old the doctors invited us into a conference room and informed us that Atlantis had Hirschsprungs Disease. They drew us diagrams and explained that a portion of his small intestine lacked 'Ganglion cells' which help the muscle to relax and contract to push waste out of the body. It all made sense! We were so happy the doctors had finally figured out what was going on with his body, surgery was booked and we were one step closer to being out the door!

A few more weeks went by and it was finally surgery day, we thought everything had gone smoothly during the surgery, so the waiting game had started. Every nappy change, I checked for poop and would get so excited when there was a few drops! Then his stomach started to become distended, X-rays showed gas had leaked into his stomach and the doctors suspected a perforation where they had stitched up his intestine, so they re-operated and stitched up the intestine again and got rid of the gas.

During the time that Atlantis was in hospital he had a constant IV and antibiotics and small amounts of morphine - to keep him relaxed and sleepy - going into his body via cannulas. Cannulas didn't last very long so they had PIC lines in him but during the second surgery all of his cannulas and PICs had clotted so he went an hour without morphine after his second surgery. I could see the pain on his little face, he couldn't cry as he had a breathing tube down his throat to assist him as babies on anaesthetics/morphine have trouble breathing on their own.

They tried and tried to get a cannula in several times by pricking him with a needle over and over and failing so eventually they had to go through a vein on his gorgeous head. My heart was breaking, all I wanted to do was hold him but I couldn't do anything but watch in agony. Once the morphine had kicked in, he relaxed and drifted off to sleep...

Hirschsprungs Disease in Children

This was taken post second surgery, the doctors had to put a cannula on Atlantis’s head to give him morphine ASAP as the anaesthetics were wearing off and he was starting to wake up and feel the pain. His face is swollen from the IV fluids and he has a breathing tube down his throat to assist him breathing. 

Two weeks had passed and Atlantis was off the breathing machine and  was drinking good amounts of milk and was pooing normally so we were able to take him home! The next month we settled Atlantis in at home, setting a routine and spent lots of time giving him so much love and cuddles and attention, he had started responsive smiling, not just fart smiling! LIFE WAS GREAT!

When Atlantis was 4 months in November 2015,  he stopped drinking significant amounts of milk, he was looking a lot paler and suddenly stopped pooing. We rushed him into the ER, he got a bed in a different ward this time, 8A. The nurses were all different, they had different regulations funnily enough even though it was the same hospital so it was hard adjusting once again to a new environment. They had beds in this ward, next to the children's cots where one parent could sleep along side their child which made me absolutely over the moon. This is where we stayed for the next two Months!

The days were long and the nights were interrupted. Atlantis had enterocolitis, which is inflammation of the bowels, he had to have two washouts a day to rinse all the poo out of his intestines as they weren't working properly themselves, he had two cannulas at a time and was on constant antibiotics and he was refusing to drink milk, so he had to be tube fed. Every time he would get better, enterocolitis would come straight back again.

The doctors did a few biopsies and informed us he would need another pull through surgery, they found sections where 'ganglion' cells weren't present in his intestine again... They decided Atlantis would need to have an ileostomy, a stoma, so he could poo in peace while his bowels calmed down. As long as there was no poo in his bowel, he was highly unlikely to get enterocolitis. So Atlantis had his third surgery, a temporary ileostomy a week before Christmas. It was a very different feeling seeing part of his intestine on his stomach, learning how to change the bag and care for it.

Hirschsprungs Disease

This was taken after Atlantis’s third surgery. I am feeding him his milk through his tube while he's having a snooze. We discovered a hack – his syringes slid perfectly into the selfie stick! 

We were able to go home on the 23rd of December 2015. We were incredibly happy because Atlantis was incredibly happy. He was no longer in pain, and we could finally go home and be with our families for Christmas and it was just three weeks shy of his six month mini birthday! Atlantis has been so much happier since the surgery he has started laughing for the first time and smiling at everything, he is drinking milk on his own again so his tube has come out, we've had our ups and downs, figuring out the best way to bath him and how to position his Stoma bag, which products suit him and which don't, we've had a few poo bag explosions at the shopping centre and in the pools, oops!  I've joined a Facebook group with other people who have Stomas which has been super helpful! I'll have the link down below. 

Hirschsprungs Disease

This was taken right before Atlantis’s third surgery when he was back in hospital with enterocolitis.

His next surgery for another pull through will be in March 2016, he will be given time to heal and then around August 2016, his ileostomy will be reversed which will be a two part surgery and hopefully he will start pooing again normally. There is no guessing what will happen, if he will get enterocolitis again, or if there will be more unexpected complications, or if there will be none for a while! This is the beauty of having children, they're so unpredictable and keep you on your toes! I will continue to share his journey and raise awareness of his rare disease on my Instagram account which is dedicated to him. Thank you for reading his story. 

Laurah Hevron xx

Instagram: @atlantisgarcia

Facebook group: Ileostomy/Stoma Care & Info:

https://www.facebook.com/groups/425752644140208/

Facebook group: Ileostomy/Colostomy reversal discussion & support:

https://www.facebook.com/groups/319210318267068/

Posted in A Brave Mum, Brave Mum Fighting To Raise Awareness of her Little Boys Rare Disease, Hirschsprungs Disease


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