New Years Eve, 2016!

2016 has been another difficult year, perhaps the hardest so far. Or maybe not, maybe it’s just the last few years are piling up on us…. Our lives have changed so much in the last 2 years. But, on this New Years Eve I want to try and remember the good things:

The Congenital Myotonic Dystrophy Fight Fund. The charity I set up with 3 other families in the UK, and with the wonderful support of MDUK. All to raise awareness of Dregans condition, and to raise funds for research. Well, I think we can call that a success. Over £41,000 in just over 12 months! Multiple newspaper reports, support from wonderful friends, old and new. And we held a charity Ball in Blackpool, which not only helped us raise money, but also gave us an opportunity to spend time with friends and family in a nice environment, with good food and music. We are already planning the next one for July 2017 in Blackpool (contact me for tickets, hehe). By the end of 2017 I would be over the moon if we can hit £75,000! I am so so proud of how much we, as a family, have put into this. Yes, it has taken a lot of work, and time, and energy, but this is one thing that is only ever good. The money we raise WILL help people. I know that research takes time, years and years, but the little we are doing is going to help a lot. And, ignoring the money side of things, I really hope we are helping other families dealing with the same issues that we are. It definitely helps me deal with things.

Friends. We have spent time with new friends at conferences, and also at ‘Families in Action’ meet ups. We have met some amazing children with CDM and also made some very good friends. Its not been a great year for socialising, unfortunately things always seem to happen when we make plans, everything gets rushed and its difficult to enjoy the moment, but hopefully in 2017 we will be able to spend more time with our friends and family. I know we have at least one big birthday coming up!

Dregan. Has had a difficult year. Having his feeding button fitted has been a life changer for him, but he has amazed us all at how well he has adapted. He is currently still in bed (at 1pm), but when he gets up and about he should have enough energy for the day. It has made a huge difference to his health, and we are hopeful that 2017 will see hospital admissions only on a routine basis, and no illnesses or emergencies. 2017 is going to be a year of building Dregans independence, we are hoping to employ a personal assistant to help him with this, and also, HE TURNS 18! Watch this space for plan on that! His access to the Childrens Hospice has been a wonderful thing for him, and also, starting college. Difficult for us sorting all his healthcare needs, but he doesn’t see that side of things, and loves it. He has made at least 2 new friends via The FIA group, who have the same condition as himself, and even though we live so far apart, when they get together it is lovely to see him so comfortable. He is deteriorating, there is no doubt about that, but we are rolling with the punches. I’m hopeful the punches will stop for a little while though…

Xander. Has coped extremely well with the changes, especially since he has his own difficulties. He has matured well, although is struggling a little with some aspects of work. I am going to try and spend a bit more time supporting him with this in the upcoming year. Also, spend more time with Xander doing things Xander likes. He has done a lot for the charity this year, been on an outdoors trip with school, worked well at school, gaining top grades. Joined Musical Theatre Drama class, Duke of Edinburgh and also continues with his Taiko – performing in multiple shows. He is simply wonderful with his baby brother, although needs to work a bit on how he interacts with Dregan (and me) sometimes.

River. Continues to amaze us every day. He is learning so much, developing wonderfully, and keeps our house smiling with practically everything he does. He has been a gift!

Reading all that we can see how far things have come, but it hasn’t been an easy ride. We seem to have had constant illnesses and meetings, and it has been hard. Every week in the calendar shows appointments 3/4/5 times a week. It has been non-stop and we need to try and be firmer on scheduling. I’m not sure how to do it, but we can’t continue like this. In 2017 we will make a change. More time for family and making memories – good ones!

Its been a sad year for losses, both from lifelong icons such as David Bowie, Alan Rickman and George Michael, but also for closer to home. No sadness is 2017 please.

I have a lot of New Year resolutions, but the gist of it is – A HAPPY HEALTHY 2017!

I wish this for all of you too.

x

Me and Dregan before we went to the Theatre in London to see Aladdin, Aug 2016

My baby boy is all grown up!

Update on PEG feeding and General health!

Gosh, it’s been a while since I updated. Honestly I’ve been wanting to for a while, but we have been struggling a bit. This last 5 months (wow!) has completely flown by - we have fit a lot in, hospitals, operation, charity... It’s all been a bit overwhelming.



Well, Dregan didn't have his PEG after my last post, we had problems with the hospital when he was admitted, so he went back at the beginning of May - I won't go into details of the op. He was poorly, we were there for 2 weeks with post-operative problems, but now, some months later, he is doing well.



He has put on weight (so much that many of his clothes no longer fit, so we need to replace them, haha!) He is healthier in himself in that he isn't struggling at feed times, and hasn't had **that** many poorly days. He seems to have more energy, and isn't falling asleep as much, although it is Summer holidays so he isn't getting out of bed as early either, so that could explain that!



He is on an overnight pump feed, and 2 Bolus feeds a day. He also has his calorie drinks and now is able to go back to some thin fluids, as thicker fluids are causing problems now. But, this also means he is allowed Ice-Cream again - so that’s a positive!!



We have just got back from a 3 day stay in the NMCCC (Neuromuscular Complex Care Centre) in London, and I have to say, I feel much more relaxed now as I feel Dregan is getting the oversight from the people who know his condition best. It was refreshing to be seen by people who KNEW DM, and who were treating us like real people and not dismissing our worries. If you’re in the UK and you get the option to have your yearly checks here (or, if like me you request!) I would definitely recommend it. The knowledge and quality of care alone is worth the trek!



All in all, he is pretty stable now, after a worrying year. His heart is showing changes, but not so much more than last time, so it’s a case of keeping a close eye, but he doesn't need any invasive tests just yet. His swallowing has deteriorated in some ways, but seems to have improved in others. I think this is a lot down to him being more aware. Also, his Carbamazepine seems to have helped him in more ways than just his Myotonia.



He had a sleep study, which showed he is borderline for night time hyperventilation, so we have to go back to London in 6 months to see if there is any change. If not, then he may be stable at this level, if there is, he will need night time ventilation. We don't want this, because apparently if he has that he can't be fed via his tube at the same time, due to the dangers of the fluid going into his lungs. This doesn’t sound too bad on the face of things, but it would be another thing for us to try to deal with as a family, and for Dregan to have to manage – it would likely be that he would need his pump on during the day, and he wouldn’t like that.



He had a full neuropsychology exam, to test his cognitive function (awaiting results) and we need to go back for an MRI at some point. I think I already know what the results will say, but it will be helpful to have a proper report, and a set of baseline results for any future tests. We have been told he is showing cognitive decline over the last 10 years, so this will help keep an eye on that. Also, it will give us a bit more knowledge about how we can support him now he’s growing up (I hope). Although, tbh, we do so much in that way anyway, I really don’t know what else there is!



I will update again soon, because we have some exciting news regarding a clinical trial he is going to be taking part in, in the next few months! Also, Dregan is going to be going on his MAKE A WISH Trip in the next few weeks, so I will make sure I write lots about this!



x

I FOUND IT!!!! - Lost post......

Dregan had his Cavernous Sinus Thrombosis during the Easter holidays 2 years ago. A 6 week journey in which we nearly lost him multiple times. Constant fights with doctors to be given information, us diagnosing him off Wiki...TWICE, and a traumatic time which we haven't recovered from yet - every day has been a fight since!

Now, almost exactly to the date, we are preparing for a 4 night stay back at Sheffield Childrens for his Gastrostomy operation. Since being given the date we have been chasing test results and specialists because of the difficulties he is going to face during the operation:

1: - He is allergic to antibiotics because of his last illness. The antibiotic the surgeon wants to use is one he is allergic to. He said 'we might have to risk it' - I said there is no chance thats going to happen. Mulitiple people chasing Allergy department (we've been referred 4 times over the last 2 years!!) and finally we get a result....they won't test any of them on him to find out exactly what he is allergic to because the reaction was so bad and hard to diagnose that it would be too dangerous and life threatening. THATS WHAT IVE BEEN SAYING!!!! So, back to square one, and the microbiologists have given a couple of alternatives. We will need to meet with Allergy clinic the day before his operation, DEFINITELY before they start him on antibiotics, to discuss this. There is no way they are giving him anything til they have bothered to see us in person.

2: - We have absolutely no idea what is going to happen regarding feeds. We get told it **might** be 4 hourly feeds, it **might** be constant, it **might** be overnight, it **might** be top up feeds and small bites, it **might** be nil by mouth.....but no actual plan for DREGAN. I expect they will do it there, but am I the only one that thinks waiting until he is in hospital actually having the operation is leaving it all a bit last minute? Surely there should be a plan in place before he goes in? We haven't had a meeting with the dieticians at all about it.

3: - His heart! At his last check up ECG (see earlier blog posts) he had a QRS delay of 111. This shows a change in his heart because of the Myotonic Dystrophy. The QRS delay is the part that causes sudden death in DM patients. This is the important number - once it goes over 100 it needs a good watch, once it gets to 120 it should have had a pacemaker fitted. Some DM specialists advocate that as soon as there is a delay over 100 you fit the pacemaker to avoid danger. So, I need to know if there has been a change. I am sure there hasn't and Im over-reacting, but I can't let him have his op until I know. He had an Echo and 24 hour monitor in December. We have been waiting for the results, chasing the results, panicking about the results. Finally after bugging them more, there was a 2 line note arrive saying there was no problems in the halter results. What about the Echo? I phoned up and she said 'Im sure if there was a problem you would have heard' - not good enough. So she found the reults and said they look normal. Yay! That wasn't too hard was it.

So, I asked about the QRS (bearing in mind this was 2 weeks ago and his op date is getting closer) she couldn't find them, but said she doesn't think its anything to worry about, otherwise they would have contacted me. I asked again for the number, she couldn't find it, she said she'd call me back. On the call back I was told they hadn't done the test so didn't have the number - thats the one we need to keep track of!! But 'visually it looks about the same so I sure its fine!' - seriously, Im supposed to accept that, the eyes of a receptionist who doesn't know anything about the condition. So I asked for the test, its a 10minute ECG, it should be done every 6-12 months!!! 'Oh yes, you can just bring him in anytime, Ill send a form today'....

We're still waiting (tick tock tick tock) and he has his operation in just over a week now!!!! I asked Scunthorpe if we could take him in there for it, its not a big thing but could save his life. They said they need to ask Sheffield. WHY!!! Dregan is under YOUR care too! So, we will leave number 3 at we still don't have an answer (but we will, or he won't be having the operation!)

4- General Anaesthetic. This is my fear, this is the one that has me on the verge of cancelling it all. The dangers of GA are terrifying me. I am sure with the right Anethesist, the right drug, the correct observations, he will be fine. But somehow I am struggling to see how its not going to be a fight to get them to listen to me. I need to print off the GA guidelines, make them read them and follow them. I asked to have a meeting with the Anethesist ahead of time, was told 'of course, we'll set up an appointment' but it hasn't happened either. I am worried it will be a 5 minute hello and handshake before the op, and they won't have time to look into what they need to do.

Im sure they are prepared in advance, but so many times we have hit these walls, that Im really struggling to relax about it. I am terrified he won't wake up.....

And, 4 days in Sheffield. Xander has to cope with it, I need to try and get access to Treetops house as I am still feeding River, I can't leave him for 4 days, I don't know how Xander will like being left either. If we could all be together in the hospital it will make it a bit easier on us as a family... I WONT be leaving Dregan there alone!

5 - Poop - you remember my last post on poop! Well, he's still on 6 powders a day and I am just hoping he will be clear for the operation. That in itself has been a bit of a trial!

Last of all - How does DREGAN feel about it?! He doesn't undertsand, he keeps forgetting, he doesn't want to have an operation and the actual putting in of the canula and taking bloods is going to be awful. It sucks! I hate that we have to do this to him.

Dates: - Going in to hospital on 30th to start antibiotics. Operation on 31st, staying in 3 nights after his op.

Dregans operation is looming....

I wrote a long post about Dregans upcoming Operation - he goes in to hospital on 30th March, Op is on 31st, and he has a further 3 night stay.

The post that disappeared was detailed on how we still have so much up in the air, including allergy to antibiotics, still not had his heart checked, and the dangers of General Anaesthetic, feeding worries and how Dregan is coping (or not).

I can't write it again.

Long story short - we're not prepared, we're scared, we're confused, and Im terrified he won't wake up from the Anaesthetic.

Its horrible.

x

A difficult start to 2016!

Happy new year everyone! - deep post coming - apologies. I started this blog hoping for positiveness and happiness - but things keep happening!

We started the new year with a WONDERFUL trip to Harry potter studio tour in London. Oh my, the boys loved it. Dregan was completely in his element - we were there for over 5 hours and it still wasn't long enough. Dregan kept talking to people saying 'Harry Potter is good' - he said 'I do love Harry Potter world, it does make me feel magical.' He had been saving all his money, birthday and Christmas, and had over £250 to spend - he spent every penny and bought some really good things including a video of himself on a broomstick. We were so happy to have had such a great start to the New Year - we need more days like this!!!

The next day it all changed, and we had an appointment with the Neurologist. You will probably have read my last post about Dregans swallow test. Well, it seems the full report had come in, and unfortunately things are a bit more serious that we first thought. Long story short, Dregan is considered 'High Risk' of both aspiration and choking, and we have been advised to have a gastrostomy tube fitted. This has completely floored us, and it has taken almost a month to be able to put it in words. Its a big thing, not only is it life changing for Dregan, but for our whole family...not to mention it is a General Anaesthetic, which can be very dangerous for people with Myotonic Dystrophy.

Even with this risk the Neurologist was very sure that it was the best course of action. When we asked what the risk is - he said 'Its a ticking time bomb'. I have full faith in the specialist. It was something we thought might happen in the future, but we really didn't expect it now.

We are struggling with it - its a big thing, and honestly, its going to be a lot to get used to. I appreciate when people say 'its nothing to worry about', 'its dead easy to do' and all the other positive comments - but it doesn't feel like that right now. It feels like we're already dealing with a lot - and this is a big thing to get our heads round.

Apart from anything else - it feel so cruel. How can we tell a 16 year old who enjoys his food and drink, that he can't eat anymore. How do we tell him we are putting a tube in his belly - Im not taking this one - its the doctors who are saying it so they can take the blame. I don't want him thinking Im doing this to him. Its so bloody unfair!!!!

So yeah, that was a shock!

At the same appointment Dregan had an X-Ray on his belly. He has been having some accidents of late, and it was thought he **might** be constipated. (The Neurologist tried to have a feel, but said he couldn't tell because 'every time I try to feel he tenses his six-pack' - haha! ) I thought this was unlikely, as surely we would know. But again, when the results came through I was shocked.

Myotonic Dystrophy can affect the whole digestive tract, so really it shouldnt come as a surprise that if the top end is deteriorated, the middle bit might be affected too. It seems Dregan is completely full of poop, all the way to where his small intestine meets. He is completely unaware! He hasn't complained at all!!! So, starting tomorrow I have quite an intense course of medicine to give him to 'clear' him out. Because the bowel is likely to be stretched (like a balloon that is inflated for a few weeks and then popped -  it goes saggy), it is very possible that it won't go back to normal now, so this is likely to be a long term medication also. People don't like to talk poop - but this is one of the most common effects of the disorder - people just don't like to discuss it. It can be problematic though - it should be talked about more!

So, thats 2 pieces of difficult information - why stop there - lets make it 3!

We had Dregans education review at school - it was a FIVE and a half hour meeting!!! Can you imagine!!! River was so well behaved! Part of the meeting was a report from the educational psychologist. If youve read my earlier posts you may know that the brain is often affected with Myotonic Dystrophy - however to my knowledge there hasn't been any research on congenital children and how the disorder affects the brain. It is widely known that Autism and Learning disability comes with congenital (some 87% I believe) but there is no real knowledge other than this.

The educational psychologist report states that Dregan shows 'a significant intellectual decline over the last 10 years'. It states that he was of 'just below average ability' when he was 6 - and his reports and observations over this time shows a decrease in his cognitive and intellectual ability. We thought perhaps he had got to a certain level, and then stopped progressing as expected and hoped. However, the Ed Psych was quite firm in stating that this is not the case - he is showing real Intellectual decline. He was so forceful because he said it really needs to be taken into consideration when sorting his health and social care for the future, and we have to consider that it is possible he will decline further in the future... Hello bus, nice to see you again - BAM!

I am not being positive, I will be once its all getting sorted and we've accepted it and taken it all in - but right now Im pissed off. 18 months ago he was just recovering from almost dying, 6 weeks in hospital, survived a Cavernous Sinus Thrombosis and Meningitis - I mean, the odds were against him.Not to mention the following weeks where his body shut down while he was getting an Antibiotic Allergy. HE SURVIVED! Not only that - but he survived with no noticable side effects which is almost unheard of.

And then that bus turned the corner! 18 months ago he was recovering, and 'just autistic' - now he has a neuromuscular genetic disorder which is going to shorten his life - possibly significantly. He has deteriorated quite a lot in that last 18months, it SUCKS!

But - he NEVER complains. He NEVER gets upset, he NEVER gets angry and he is almost always happy!

An inspiration.

Its just cruel.

x

Dregan wears Orange for 'Go Orange Friday' and fundraised for The Fight Fund.

www.cmmd.uk