Wednesday 3 December 2014

11 days which feels like a lifetime......

I can't believe its only been 11 days since my last update. Not because it has flown by, but because SO MUCH has happened. It feels like we've had months full of updates! I imagine its going to be like this for the rest of the year - hopefully with less illnesses though...

On Tuesday Dregan was taken to hospital in an ambulance at 9.15pm. It came on so suddenly, he had been fine at school, (they were so shocked when we called wednesday morning because had had a great day!) Tuesday morning he was excellent. 

It was a teacher training day on Monday, and he had spent a lot of the day in my new shop with me, and had been really good. We had had a meeting at school with the Neuromuscular Care advisor, school nurse and the deputy head mistress (who is co-ordinating his updated needs since diagnosis, and I have to say, has been GREAT) He seemed himself, no sign of illness.

So, when we got home at 5pm on Tuesday and he was curled up saying he was cold - we were a bit concerned! I had a meeting at 5.30 with Social Services again - well, actually Dregan did. The Social worker was coming round to meet and get to know the boys, and Dregan was curled up in a ball, not interacting at all. So, that didn't go as planned. I took his temp, and it was 38.4, and his heart rate was 133!!! He hadn't moved off the sofa, he was shaking, he obviously had a fever coming on. So, Calpol it was...and wait..... 1 hour later, his temp was 39.1, and we called 111. They didn't understand what we were telling them, and had no idea what Myotonic Dystrophy was, but given his Cavernous Sinus Thrombosis earlier in the year, and his allergy to antibiotics, they sent an ambulance out.

He was in hospital for 2 nights, and his temp/HR/Blood pressure was all over the place. We were in the same room he was in last time, and I felt like I had been transported back in time 6 months. I probably got about 4 hours sleep the whole time we were there. His eye was droopy when he could open it, and swollen when he couldn't and he had a bad headache. His infection markers were 60, which is cause for concern, but becaus he can't take all the normal antibiotics, it was decided to let him try and fight it off. His chest sounded clear, otherwise they would have sent him back to Sheffield to the 'specialists' and to re-scan/X-Ray. 

Obviously Pneumonia is one of the biggest worries for people with DM, and causes approx 54% of deaths. They were very worried.

LUCKILY, he fought it off - 2 days of sleeping non stop, and we came home. He now has an 'open door' to the childrens ward, because they can't risk him not being seen, and it being more serious. It came on so quickly, and in April it was exactly the same. In that case, if we had left it even 24 more hours he would not be with us now (terrifying thought!). So, no risks, take him straight in!!

Since then, we have opened our new shop! And held the raffle we have been running to raise money for 'Treetops House'

We had to cancel an appointment with the Physiotherapist on Wed (which we have been waiting years for) as Dre was in hospital, so that needs to be re-scheduled! Unfortunately that means there was no report for his statement review!

Pete met with the Speech Therapist on Thurs while we were admitted, and had a good meeting, luckily Dregan did not need to be there for the initial meeting so Pete could do that without me. My brain has not been working so good anyway, so its probably best I wasn't there!

I had my midwife appointment on Friday - that was nice. :-) All is going well with this pregnancy - No sleep and being the size of a hippo is starting to affect me, but thats manageable!!!

Dre was back at school Monday, and we had another meeting with Social services during the day - they have been helpful so far, so fingers crossed once the inital meetings are over, dregan can get some support from them!!

Statement review at School on Tuesday - that was a looong meeting with LOTS of people present - a  blog for another day! Positive meeting though - so fingers crossed everything is implemented as its supposed to be (we do have 12 years of history of that not being the case though, lets see if 'medical' diagnosis changes that!!)

And its wednesday today - I'm exhausted, and going for a bath. Dregan is at Youth Club - so he'll be having a great time now!!!

Believe it or not, thats the SHORT version - there is SO MUCH I could have said, but I'm sure I will get round to it at some point!!

**feeling spun out**

Dregan pulling out the winning number for the raffle! 
"Ooooooh!!!"


Friday 21 November 2014

Good meeting at school - Ed Psych!

Dregan has complex learning difficulties, and reading is a great difficulty to him. This is a combination of understanding letters and how they go together, understanding words, the MEANING of words, and also - whats the point in reading? We've always felt that if we can get him to a basic level of reading and understanding, he will stand a much better chance as an adult!
He is 15 now, and FINALLY he is showing a keen-ness to read (only a little, but better than nothing)

He is currently at the level of a 5year old, and has not progressed past this level since he was in Year 2 at primary school. 

We have now got a new Educational Psychologist, who has started 'Precision teaching' with Dregan. It has only been going on since November this year, so is early days - but the meeting we had yesterday was very positive, and he is showing some small steps of improvement. I have to say, I don't think he is improving any more than he did with his TA at primary School, but since going backwards at High School, he is maybe up to that level again.

So thats GREAT news - all we need now is to make sure they don't say ' yep, thats working, pass it on to someone else to do'. He needs the consistency with the same person, as that is always the downfall **fingers crossed**

After this meeting we had an Open Evening for 'Post 16 Provision' - it was a talk by 4 or 5 Education providers in our area, to give us an idea on where he may go at the end of year 11. That, luckily, is a decision we don't have to make until next year, I can't face another important choice like that just now, haha!

We have a couple of ideas at least, and thats something to work towards - it will depend how he progresses (and how his health needs progress/deteriorate) over the next 12 months.

All in all, a positive day - even if I did have a black cloud over my head all day!

I won't write over the weekend, its been a busy and difficult week, and we have an even busier one next week. So, for the next few days, while we have no appointments, I want to enjoy the boys!

Have a great weekend!

x


Thursday 20 November 2014

Echocardiogram and 24 hour monitor.

I missed writing the last couple of days, so will try to catch up.

On Tuesday we had an appointment to have an Echocardiogram on Dregans heart. He had one when he was critically ill earlier this year, so knew what to expect. It was slightly different, but he coped amazingly well. He spent the whole time watching the monitor - looking at his heart, and his heartbeat! The gel was cold and the stickers at the top pinched a bit, but he was ok.

I had no idea what I was looking for, so can't comment on it really!

He was great on the journey to Sheffield, but his hands 'froze' up about 5 times. Not even when using them, at one point he simply rested his hand on Pete's chair, and it seized up. Was quite worrying, it was hurting a bit, and his hands were nice and warm for a change!

He went a bit internalised in the waiting room, too many people, he was sitting with his head on my shoulder. He really does change when we're in situations like that!

Next was the fitting of the heart monitor. he had to take his shirt off again, and then the nurse ran out of the room to see another patient (!!) so he got a bit uncomfortable and wanted to get dressed. It was cold, so I covered him up again. When the nurse came back, he was split between talking her head off about rubbish, and withdrawing and hugging into me. But, he took in everything she said, and coped with having the monitor fitted really well!!

In all this time, Pete was trying to park the car! Was a nightmare - he finally found a space and then I called him to say we'd finished!!!

That night was one of the best nights he's had in ages - he had loads of energy, walked the dog with Pete, didn't complain of his legs hurting, and even played some games with us. Managed with the monitor very well, and went to bed no problems.

His eyes went 'a bit fuzzy' in the morning, but other than that (and his hands kept seizing up, was very persistant!!) no problems.

The monitor was a 24 hour monitor, and Pete went to collect it to take it back to the hospital. Apparently Dregan was complaining of his heart hurting at around 1.15ish...BUT the monitor hit 24 hours at 11.30 - I don't know if it will have recorded that incident (I hope it did)!

So, now to wait for the results! We received an appointment with the Consultant Cardiologist at the 'Inherited Cardiac Conditions Service' yesterday, but it clashes with Dregans Interim Statement Review, so am waiting for it to be changed. Should be soon though, they seem to be speeding it all along!

Too many appointments, not enough days!

x


Monday 17 November 2014

Child Services/Social Services....!!!!

Just the title here fills me with dread!

Pete and I have never invited social services in to our home, we have bristled every time someone has suggested it in fact. After all the experiences we have had with 'professionals', it has been very hard to see how this could be a good thing - despite being asked 'who is your social worker' and every appointment we have for the kids! In all our time around disabled kids, I think I have only met/spoken to 2 parents who said anything good about the service - and this includes schools too!!! Both those parents have children with a proven medical diagnosis - not just 'Autism and associated disorders'. Personal opinion and belief really doesn't come into it when there is a Genetic reason for the disability!

So, when our Neuromuscular advisor suggested we access the service for help, you can probably imagine our reactions! However, she made a good case, and we trust in her, so we decided, being that the situation has changed dramatically, lets give it a go and see what they say!

The VERY NEXT day we had a phonecall arranging a meeting!! That meeting was this morning.

Now, to be blunt, Dregan and his needs have NOT changed - the thing that has changed is that now we have MEDICAL PROOF, people are more inclined to offer support instead of laying blame. We are actually starting to get somewhere, and we believe that because we have specialists out of county involved, our local Authority is stepping up. This is a good thing (if really frustrating and upsetting that we have been fighting for so long for nothing!)

The meeting was this morning. The Social worker attended with a Student on placement, and they were both very nice. From the onset we were honest, and gave our reservations, and from the onset we noticed how differently the meeting was going - again, because it was based on actual proof in their eyes, not just what we believed as parents!

I was SO anxious this morning about it. But, all went quite well, and we shall now see what the next steps are. The meeting was to begin the full assessment of Dregans needs, and where HE can be supported! Also, if Xander can be supported in any way also. What we are hoping for is someone to help Dregan access the outside world, maybe instead of him spending 3 hours a day on the school bus (leaving no time for anything else), someone could collect him and spend that extra hour doing things with him one on one. Be that homework, therapy, swiming, Physio, etc...Also, its putting support in place for when Dregan goes through transition into adult services. (whatever that may be)

So, all in all, I am quietly confident that we may have taken a step in another correct direction. I am still wary, there is still a long way to go, and many more meetings etc (one next week to meet with Dregan) - so I don't expect changes to happen quickly - but if Dregan can get some support outside the family, it could be a great learning and life experience for him...

And, we got told our ideas for support were the type of thing they would definitely be able to work with, and 'you've done a great job so far and seem to be doing everything right' - did you hear that... PRAISE from a social worker (!!! hehe!!!)

So, feeling positive, and now to get on with the rest of the day!

What a way to begin a Monday morning (9am meeting!!)

x

Friday 14 November 2014

Digestive problems!

Friday 14th November 2014.

Hello! 

A bit of education with how it affects Dregan specifically !!
Myotonic Dystrophy is very well known for affecting the digestive system of its suffers, although it is something that many people do not talk about. According to the specialist who gave the presentation last weekend on this issue, it is one of the most common symptoms - also the most embarrassing! And, also, one that has likely been affecting the person for a long time - so might even seem 'normal' to them!

If you think about muscle wasting, and how it can affect the digestion, it is quite complex!

1. Chewing the food! 
The tongue is a major muscle affected by DM, in fact, it is used as one of the diagnostic tools for the disorder - so if the tongue is unable to do its job properly (rolling the food into a swallow-able ball), even just getting the food into you can be a major problem. Not to mention weakness of the muscles that help you chew and swallow - facial and mouth muscle weakness.

Up until Dregans diagnosis, his issues with eating were put down to 'Dyspraxia' - despite us mentioning at MANY appointments that he can't seem to bite his food. How does Dregan eat? Well, he is quite picky about the foods he eats - he will avoid messy food and gravy/soups/etc. this was always put down to 'Autism' - however, we now know it is because he struggles to actually get the food down his throat! This is a VERY common problem, and it is liquids and drinks which often cause the most issues! He pushes the food into his mouth, and squishes it up. 

2. Swallowing.
THIS is the scary one! The number 1 cause of death for people with DM1 is Pneumonia. Until last weekend, we thought this was because of the immune system not being strong enough. but we were very wrong! This is because of the inability to swallow food and drink. The food actually goes down the windpipe into the lungs, instead of down into the correct tube, causing infection in the lungs. So, keep an eye on it? Surely you will know? WRONG! The majority of people don't even know it has happened! THIS is why it is so dangerous and scary. It causes death in over 50% of suffers, early on in life, and is a major contributor to the reduced life expectancy of people with the disorder. This terrifies me!

For Dregan, this is a problem. He gets hiccups almost every meal, and also, throughout the day. He struggles to chew and swallowing is a big problem. Not only food, but drink and saliva. He cannot swallow tablets, so medication have to be in liquid form, and he struggles with this too! It is quite painful watching him if you ask him to swallow for you :-( 

Also, what is the treatment for Pneumonia - if symptoms even show themselves in time? ANTIBIOTICS! Well, Thanks to Dregans critical illness in April/May this year, he is now VERY allergic to Antibiotics. He cannot take anything from the 'Cillin' or 'Cef' family, or Metrinidozole. So, he would be in trouble if he was to get this illness - terrifying thought, given his difficulties.

We were told that when swallowing becomes a severe problem, a lot of people have a feeding tube placed directly into their stomach. I simply can't imagine that for Dregan!

This issue is a very serious worry for us!

3. Digestion!
Once the food has actually arrived where it is supposed to - the digestion begins. people with DM can often have an inability to DIGEST FAT! Also, digesting certain minerals is a problem, and so the liver is often impaired, insulin resistance, diabetes can all be seen in a number of patients with the disorder. The first thing you may notice, is that you cannot put on weight - or that you put on too much weight, depending where the difficulty lies. Also, you may find you are having a lot of tests on your liver, and the first thing you may know is that your GP is asking 'Are you an Alcoholic!' You need to see a specialist, because this liver damage will not improve without the correct treatment, and you may just be told all your tests are negative 'we don't know' what it it is. In the words of the specialist doing this talk 'Before you know it you're in Liver Failure' - the is REALLY important! And comes down, again, to YOU educating the Health Professionals. Your GP probably doesn't even know what Myotonic Dystrophy is - it is so unknown that if you are aware you have the disorder, it is down to you to make sure you receive the help you NEED. Great for people like Dregan, who don't have the cognitive ability to understand or fight for their help!

So, inability to digest fat! The majority of sufferers will be underweight. Might not seem a problem for a healthy person, but for someone with DM it can cause an onslaught of issues. Your muscles will become even weaker, and you are prone to other illnesses. So take suppliments, surely thats the obvious route? WRONG! Trials and clinical tests have proven that it actually makes NO difference. Trials have been done and shown that, unfortunately, it does not help. So, what do you do? You tell me?

Dregan has always been skinny, when he was ill in hospital he lost a LOT of weight, which he has managed to gain back, Unfortunately we struggle to get him to put more weight on. He gets ill if he eats too much dairy, and is unable to digest milk as it causes sickness and addiction . This is something we have known for a long time, but now we have PROOF! People might start listening to us now! He is awaiting an appointment with specialist dieticians and speech therapists to see if there is anything we can do to help. At the moment, making sure he tries to sit a bit straighter when eating, watching he doesn't choke, and keeping a close eye on anything that may seem to indicate illness...

In the meantime, he is currently in the 0th percentile for children his age and weight. That's not just a bit underweight - that is actually clinical starvation. BUT HE EATS ALL THE TIME!!!! I am keeping a very close eye on him, and basically, we have been advised that 'healthy eating' guides might not be relevant for him just now - just get the fat into him! Dregan is very happy about this ;-p

4. Intestines!
The intestines are long muscles - can you see where this is going? Yep, moving the food from the stomach to the anus can be a struggle. Pain, inability for the food to move, etc... This can cause constipation, bowel obstruction, etc. Many patients are diagnosed with 'irritable bowel syndrome' but it is much more than this, and can have serious consequences if not seen by a specialist.

5. Pooping!
Constipation, Diarrhoea, Pain and discomfort, all part of the problem. The Anal Sphincter can be quite badly affected, meaning that it is hard for a person to stop 'leakages' - this can be embarrassing and is often not spoke about very much.

Dregan has these issues. He was not toilet trained until late in his development, and pooing has always been difficult for him - he simply did not know when he needed to go. It was, again, put down to 'sensory perception disorder. and 'Autism'. Later on in life, it has been put down to 'poor self care' and 'learning difficulties'. Having the diagnosis has not changed the difficulties - BUT, it has changed how WE as CARERS can deal with it. It simply is not his fault - so we have more soiled underwear to deal with sometimes, and he cannot tell when he needs to go to the toilet always - BUT, we now know it isn't him being lazy. We change OUR behaviour, to support him, and learn to read the signs and try and send him to the toilet. I don't think there is much we can do about it really.....

Also, we can see a lot of these difficulties in Dregans brother, Xander. Especially the digestion issues. These have been apparent from him being very little, and are documented on many reports. Without getting him tested, we won;t know, but at the moment, I don't think this is a valid reason to test him. We shall see how Xander progresses.

What made me decide to write about this today? Simple, Dregan just came into my office, and handed me something he found in his room. We had a little discussion, and out he walked. Suddenly he was panicking and saying 'don't come out' - yes, you guessed, he needed the toilet...URGENTLY! He didn't know until it was almost too late. Luckily, on this occasion he made it in time as he was passing the bathroom when the urge hit - but this is a problem that will only increase for him. And he doesn't make it every time! I have no idea what support we can get for this!

So, on that note - time to start thinking about what to eat for tea!!

x

Monday 10 November 2014

Myotonic Dystrophy Information day.....

Pete and I have just returned from this event, in Basingstoke. I don't really know where to start!! It was a loooong drive to get there (arrived at about midnight Friday night), so waking up for a 9am start was difficult!

I will be totally honest, my first reaction upon entering the conference at 9.15am, and having a quick walk around, was to go to the bathroom and cry. It was such an emotional thing. The first thing I noticed was that a lot of the attendees who had arrived that early were wheelchair bound, or struggling to walk with sticks/walkers. The physical/muscle wasting aspect of the disease was extremely apparent in a number of them, and it was somewhat overwhelming. It was a shock for me, as all the information I had received up to that point was indicative of people not needing walking aids. However, there was a comment made by Dregans specialist when we saw him last week, which I guess I didn't take in at the time....

As the day went on, it was quite obvious that there was a large range of sufferers there, usually with their families, and the way the disease has presented itself in a lot of them was extremely variable.

I think the thing that hit me the most, was the feeling of acceptance amongst everyone, although I didn't realise this is what it was until much later. The acceptance that this is the disease, this is the person! This is what WILL happen, and that even with monitoring and support, there is actually nothing that will stop the progression, and even the support you can get doesn't seem to make any difference to the ultimate prognosis... that was a hard truth!

The presentations were just amazing, the information we received was detailed.... and very blunt. It drummed in to us how very little is known about the disorder, and how ultimately it is down to the CARERS to make sure that the medical professionals are informed.The specialists who attended were extremely knowledgeable about it all, and they were stressing that it MUST be a specialist with knowledge of genetic disorders who you see. A cardiologist is not good enough, you have to see a cardiologist with a SPECIAL INTEREST. Otherwise, you simply won't get the support you need. He may look at an ECG (for example) and see a slight change, but say its not important, because on a healthy patient, it very well might not be. But on a patient with DM it is a sign of things to come, and is VERY important..... this ranges through all the symptoms... And man, there are a LOT! Too many to talk about in one blog post for sure!

Some of the top scientists and researchers were there, including the ACTUAL guy who found the chromosome which causes the disease in 1992. THE ACTUAL GUY! This is amazing! And, it shows how little is known about it, but also, how research can progress in a persons lifetime. There would have been families in that room who had been suffering with the disease and had no idea what caused it, and one day - answer! Just wow!

Another thing that was apparent, is that the convention was aimed at people who had Classic/Adult onset DM1, and who were not necessarily cognitively impaired (to the degree of Dregan and Autism/LD). We did get to speak quite deeply with Dr Chris Turner, who is one of the leading specialists in London, and he seems to have taken a special interest in Dregan, noting that he is quite a unique case. He has offered to see him in his clinic once Dregan turns 16, and liaise with his consultant until then - this is GREAT. We also received a lot of advice from a specialist nurse, which helped us understand why a couple of things are happening, and how to 'deal' with them!

There were some things we learnt that I still can't find the words for, so that will be left for another blog post. Our overall feeling about the conference was that we are SO glad we went along, and feel like we were very lucky to find out about it. We only received the diagnosis 8 weeks ago, and in that time our lives have literally flipped and changed. In that 8 weeks we have done enough research to educate ourselves basically on the disorder, but to be able to go and get advice at this point, from the actual people leading the research and care, was amazing.

So, this blog entry basically explains how we feel from the experience of meeting other people with DM, and from being in that room. An overall positive experience, but so much to process, not all of it good.

One more thing. There are 2 things about the day which I will always remember:

1 - Waiting in line for a wee at break time, I was talking to a lady who had a very mild form, but her 2 daughters and her sister all had it also. Another lady came in, and was quite badly affected in her muscles, she had eye Ptosis (droopy eyelids) on both eyes, and her facial muscles and speech were badly affected, and she was struggling to walk. She said to me - "Its a curse" Just simply that statement. That affected me deeply, and I had to compose myself before leaving the bathroom.

2 - Nobody was smiling. Not because they were not happy, but because many of the sufferers facial muscles were affected, even the people in their 20's, and they couldn't smile. Every now and then you heard a laugh at a joke or something, but the sheer fact that over time this disease can take away your ability to smile, is something that only hit us much later. In fact, Pete mentioned it over breakfast when we were discussing how we had both been in 'process mode' all night, and not slept very well.

So, on that quite sad note - here is a picture of my Bear's wonderful smile. Despite his other symptoms, just now, his eyes and his facial muscles are not affected - so lets get as many of these smiles captured as we can!

x

Legoland 2009 - Aged 10!




Friday 7 November 2014

What a lovely response.....

Wow!!! - We are overwhelmed by the positive response to our blog! All we can say is THANK YOU and please keep reading and sharing.

If you have any questions or comments or want to share anything at all, please do so. The aim of this blog is to raise awareness of Myotonic Dystrophy, support eachother, and keep up to date with Dregan!

This evening Pete and I will be embarking on a 5(ish) hour drive down to Basingstoke, to attend a 'Myotonic Dystrophy Information day and conference', which is being held by The Muscular Dystrophy Campaign. This is set to be an intense but informative day on Saturday! It will include a drop in session with a specialist nurse, and various talks from specialist and experts, including people from the Myotonic Dystrophy Support group! There will also be a couple of workshops, and I am particularly looking forward to attending the 'Cardiac Complications' talk, as Dregan is currently having monitoring on his heart (more info on this will come in later blog posts!) as well as many other tests.

I am interested to find out about any clinical trials also. As far as I am aware there are none at all happening at the moment. It will be interesting to see if there is any new information!

We were very lucky to be given the information on this day by the Neuromuscular Care Advisor who has been helping us for the last few weeks. She really is great, and I am glad I contacted her when I did. Conferences like this don't happen very often!!

I am under no illusion that this is going to be a difficult conference to attend, I imagine there will be a lot of other families with varying degrees of the disorder in attendance, and this is set to be a bit of an eye-opener. I have never met anybody else with DM, so it will really be a bringing us down to earth day. I think I will make some cards for this blog and see if anyone is interested in following/keeping in touch. Perfect opportunity, right?

We will be back on Sunday evening, so I will update the blog when we get back, and hopefully have some interesting information to share!

I hope my pregnancy hormones can hold out, haha!!! And that there is cake........ :-p

x






Thursday 6 November 2014

What is Myotonic Dystrophy?

I couldn't decide whether to write an introduction to Dregan and our family, or Myotonic Dystrophy first. I have decided to write about the disorder, as most of you reading this early on in our journey will already know Dregan!

So, WHAT is Myotonic Dystrophy?
Myotonic Dystrophy (DM) is a genetic disorder, that affects many parts of the body. Unlike other Muscular Dystrophies, it doesn't only affect the muscles, it also affects the Heart, Lungs and Gastrointestinal system. In its more severe form, it affects the Brain. 

Muscular Dystrophy is the umbrella term for over 35 different Neuromuscular disorders - DM is one such (less well known) disorder. It is said to be the most common form diagnosed in ADULTS, and symptoms generally start to show themselves in 20's/30's +. The more severe form of DM is CONGENITAL Myotonic Dystrophy, which is symptomatic from birth, this is the form Dregan has.

DM is one of the most complex disorders known, and it has unique mechanistic features. If you are diagnosed with the disease, one of your parents DOES have it - even if they have not shown any symptoms as yet. There is a 50% chance of the disorder being passed to any children you may have, and in the same way, any full siblings you have also have a 50% chance of inheriting the gene. Recent research has suggested that every person who has the gene can be traced back to just 2 people thousands of years ago!!

So why is it so unknown? 
One of the features of DM is that is called 'Anticipation' - this basically means that the disorder seems to get worse through each generation it is passed on, and so the family may have no idea they carry the gene until a child with severe difficulties is born - as is the case with Dregan. You often find that great grandparents may show no symptoms at all until their old age, where they may get cataracts. This is often ignored, as cataracts in the eyes are very common in the elderly anyway. The Grandparents may start to show mild symptoms in their 50's/60's - but nothing to be overly concerned about. Parents may then start to show symptoms in their 30's, and then the next generation child can be born with the congenital form, and be severely affected from birth.

There is also a bias towards maternal transmission of the congenital form. No-one knows why, as research is still ongoing, but it seems that when a child is born to a mother with the faulty gene, the baby is more likely to inherit CDM. This was the belief until only recently, and it seems from research I have done, it was only realised in approx 2006 that the congenital version could be passed on from the paternal gene. I am still looking into it, but it seems there have only been 6 recorded cases in the years since.... 7 now. This does not mean that there have not been more, but this is all that we have found on record. Research is still ongoing, but on many sites you read, they will say it is only passed on by the mother, which is incorrect.

How does it affect the Genes?
The best way to explain it is how Dregans consultant tried to explain it to him. Imagine you have a Lego set, and the instruction booklet tells you how to make the set. You follow the booklet, you get a perfect model at the end. The booklet is your DNA/Genes and the finished model is you! One of the pages in the booklet (the chromosomes) is repeated over and over again, and the more the page is repeated, the harder it is to complete the Lego set - you can't build the model properly, because the instructions are wrong. Dregans pages are repeated a LOT - we are waiting for the official number, but the Consultant says over 1000 times.

In a more Sciency language: The Genes responsible for DM1 are found in Chromosome 19. Each Chromosome consists of a long chain of chemicals that form DNA. The disease is characterised by stretches (repeats) in this DNA. In healthy people the repeats are between 5-37. 38-50 repeats show you carry the gene, but will never show symptoms, but can pass it on. If you have over 50 repeats you WILL show symptoms in your life and the disease WILL affect you. As mentioned above, Dregan is thought to have over 1000 repeats.

How serious is it?
It is a very serious progressive condition. It is not possible to predict how and when the disease will become symptomatic, however, the younger you are when it begins to affect you, and the more repeats you have, is indicative of how severely you will be affected. 

Putting it into context for Dregan, as this is his blog, he has a very severe form of the disease. The Consultant has been very clear that although it is impossible to say how he will progress, he WILL deteriorate, and he needs close monitoring. He is only 15, and is currently showing almost all the symptoms of the Congenital and later Adult onset disorder. So he is quite progressed already. 

There are no cures for the disorder, or treatments to stop the progression of the disease. You can have Therapies to help with the symptoms, and some medication is available for help with the Myotonia (inability to release muscles). Unfortunately it seems this just masks the symptoms, and doesn't halt progression. We are still in early days, so all this is still being put in place for Dregan, as he has tests and investigations to see what is appropriate.

It is a degenerative, progressive disorder. It doesn't 'kill' you in the way a disease such as Cancer will kill you, but the complications of the heart/lungs/muscle wasting can cause life expectancy to be reduced. In severe cases this is a significant reduction - but that's for another day. Lets not forget the affect it has on day to day living for the person with the disease, and everyone who loves and cares for them. It can have a devastating effect on those it touches. 

So, a long post there, if you have got all the way to the end, give yourself a gold star!!! 

There is LOTS I have missed out on, for more information these websites are very helpful:
http://www.myotonicdystrophysupportgroup.org/
http://www.myotonic.org/

I am sure there will be more to follow, as we learn more and how it is affecting my Bear, but for now, Thanks for taking the time to read.

x












Wednesday 5 November 2014

Why a blog?

Hello, and welcome to my blog. These pages are intended to be a source of support for anyone who reads it. Also, a source of 'trying to get our heads round things' and an insight into Dregans Journey through life, with his new diagnosis of Myotonic Dystrophy!


I expect the first posts will all be quite deep and detailed, as we get to know who Dregan is, and what he has dealt with in his life so far. Also, What is Myotonic Dystrophy? How does it affect him? How WILL it affect him?  There is A LOT of history that has led us here, and those struggles are not likely to end any time soon, but I will try to keep it as informative and rant free as possible - although I can't promise anything!


This is a very new thing for us, having only received this diagnosis very recently, so the journey will start with 'what happens now?'. It is set to be a complicated journey, which is going to last Dregans entire life - I hope we can gain some peace and understanding from writing it down in this blog, and sharing stories with others who may be in a similar situation. I will document appointments and meetings, information gained, progression - and Dregans personality. Lets make lots of good memories to add to his story!


Yes, he has Myotonic Dystrophy, and yes, it has affected him profoundly, and will continue to do so - but Dregan is AWESOME! I want to share his achievements and his fun and his general wonderful-ness! I am sure we will have down days, but I hope to keep a positive frame of mind in these pages.


So that answers the first question...


Emma-Jayne
x


Dregan 2012 - Aged 12.5!