Our HD Hero Update

I haven't posted in a year and a lot has changed in the past year!

In my last post I talked about organising a parent support group for HD parents in NI and we finally held it! We had it at the RVH in the waiting area where we normally go for our consultant appointments, and we had it on a Saturday so that the kids and both parents could attend. 

We had about 13 HD kids attend and it was fantastic! I spoke a bit at the start about why I had set up the group and then we just seemed to naturally all give an introduction to our HD heroes and their story. It was mind blowing that all the kids had absolutely totally different stories. Every child had different experiences, different obstacles to overcome and yet everyone of them looked happy and healthy. It was very encouraging and I was so excited to organise another group session, but as I was pregnant with my second baby, I advised the parents it would maybe around March/April 2020 before I got anything organised. 

I gave birth to our beautiful daughter Hannah on my due date, 16 December 2020 and the reality of being a mum to two kicked in, life was fast paced! I was just getting ready to start thinking about organising another event, when Covid-19 happened, so everything has been put on hold. We still have a Facebook support page that we mostly use to ask for advice or the number for the surgical team or the consultants secretary number etc. It's nice knowing that within a couple of minutes of posting a message to our page, there is normally a response or well wish if things aren't going great. 

With regards to Charlie's HD, things have been very up and down for us. From January 2020 Charlie's bowels started to slow and we seemed to be having very inconsistent poos, and also problems with puffing up and not being able to pass gas. We had a consultation appointment with Dr Milliken, prior to lockdown, and trialled enemas, suppositories, both of which Charlie detests. We then reverted back to washouts as and when we needed them. These then became more frequent, to the point, we were doing them morning and night, daily to ensure the gas and poo was out. 

I had a couple of calls with the incontinence nurses from the RVH, Emma and Laura and we trialled changing his lactulose to Movicol and switching up the dosage of this too to ensure his poo was soft enough in the hope it would move down the bowel easier and also make it easier to push out. The thought was that maybe if the poo was also soft enough, he could push the poo and any gas trapped behind the poo in the bowel would also come out. We just weren't having any consistent results, which was hard to accept when things had been going so well for such a long time. 

During lockdown in April, I had a telephone consultation with Dr Milliken and we discussed the option of Botox in Charlie's bum to relax the sphincter muscles, but that with Covid, this presented more challenges too. Charlie would need to be Covid tested, and stay in for one night and with all the mask wearing, and risks, we decided that with twice daily washouts we would continue to empty his bowels ourselves. The other option open to us was to give Charlie an antibiotic, that would supposedly change the gut flora in his bowels, which could cause diarrhoea and possibly "reset" his bowel into pooing and passing gas again if enough poo/gas came out. I again was reluctant to do this and so decided to give it some time to think about this. We also had a family trip to Donegal the following week so I didn't want to cause him to be unwell for the trip. Restrictions had eased slightly, so we were travelling with my parents to my Aunt and Uncles house for some much needed rest and relaxation. 

The first day of the trip was fab, we arrived and Charlie was so excited to be spending time with his Nanny and Granda. We had done a washout on Charlie that morning before we left and then we did a washout that night. We struggled to get the gas out that night, but 9/10 times we knew it would come out the following morning. We went to bed and in the morning we started into the washout. We again struggled to get the gas out, so we stopped and decided to try again in a little while. I have to be honest my heart was sinking and I was feeling so anxious. We again tried again and again struggled to get the gas out. I was working Charlie's tummy trying to coerce the gas down the pipe, but to no joy and Charlie was crying at being put through this many washouts in quick succession. We stopped and I cried. I still feel like crying thinking about it and what Charlie has had to go through in his short little life. 

I had only one option, ring the Royal and see what they thought about how we should decompress Charlie as he was so puffy now. I got through to the Barbour Ward and spoke to one of the surgical registrars. They advised to come up straight away, but when I said we were in Donegal she said she would speak to Damian another member of the surgical team and get back to me. We packed thinking we might need to go to the RVH. Damian rang me back quite quickly and said that as Charlie was still in good form and eating, we could wait until the morning and try another washout then to see if we could get the gas out. 

We unpacked what we needed but were scared to get too comfortable as if Charlie deteriorated then we would need to go to the Royal regardless. As we hadn't done much all day waiting around for a call back from the surgical team, we decided to make the most of the evening. We jumped into the car and headed straight to the beach. Charlie loved it, he splashed about in the water, to the point were we had to remove his trousers as he had them soaked through. We spent the best part of the evening at the beach and headed back to the house for dinner and bed.




The following morning we did another washout and although we got a little bit of gas out, it wasn't enough. Charlie was still puffy and starting to lie about a bit more,  and not want to eat much. We rang the Royal again and got speaking to Patrice, another registrar on the surgical team. She advised to come up so she could see Charlie. 

When we arrived at the hospital, due to Covid, only I could go in with Charlie, so Davy headed home with Hannah. We had to wait a short while and then got triaged, Charlie had his observations taken and bloods taken to rule out infections. Patrice came down and they tried a washout but after flushing 500ml of saline, only 150ml of saline came out. Charlie was then sent for an X-Ray to see what was going on inside. From the X-Ray all you see was the amount of gas built up in Charlie. I just wanted to cry that he was going through this and that as his parent we had let it build up this much! Patrice then tried to do a phosphate enema but again no result. All that happened was that Charlie was sick a couple of times whilst he strained to push, but nothing came out. 



I was fighting back tears and trying to not let Charlie see me upset, and I was being told we would most likely be admitted. I hate being admitted to hospital as Charlie always ends up needing a lot more intervention and it is so distressing to watch. Prior to be moved to the short stay ward, Charlie was Covid tested, which he did not like at all and after all of the intervention so far he was at the end of his tether. He was tired, irritable and not in the mood for more washouts. I decided to agree to him getting a relaxant, Midazolam. He was so chilled, almost acting like he was drunk, which was heart-breaking but also a little amusing. 

We had to start another washout, and if no result then the following day he would be taken to surgery for a more invasive washout whilst he would be knocked out. Charlie happily let Patrice try another washout and after flushing up saline, finally we started to get a result back. It took time, but after a while there was a definite popping sound from Charlie's tummy and Patrice was able to suction back over 1Litre of gas and poo from Charlie's bowels. The nurse on the ward couldn't believe the difference in the size of his tummy and how slim he actually is. 

I was over the moon and overwhelmed all at once and cheekily asked could we go home now since his tummy was totally decompressed. They agreed and Davy came and collected us just after 11pm! I have never been so happy to get home with Charlie. Since getting home, we've still kept up the washouts at night to ensure we get the gas out, as he still seems to be having some issue passing all of the gas himself. Random dirty nappies started to happen, but again no consistency to be able to stop the washouts yet. It was just another curveball in our HD journey. 

Xx





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