Videofluoroscopy (Swallow test)

December 11th 2015

So much for keeping the blog up to date - as per our lives we have been so busy. I have lots to tell you, but today I am going to concentrate on Dregans most recent hospital appointment.

First some education (yay!). Myotonic Dystrophy affects practically all the muscles and organs in the body, but you can never tell what is going to be affected in each person. This is what makes it such a dangerous and complex disorder, because we need to keep on top of all the possibilities. The main cause of death for patients with DM is Aspiration Pneumonia: Infection in the lungs caused by swallowing food/drink into the lungs instead of down to the stomach. People with DM often have reduced cough capacity, due to the wasting of the muscles, so once an infection is there, it is hard to cough it up, and stop it settling on the base of the lungs. Dregan is allergic to the main antibiotics, so it holds that extra danger for him.

I believe its estimated to be close to 47% of patients with DM (whether they are diagnosed or not) die from Aspiration Pneumonia. This is NOT something to be taken lightly! There is nothing we can do to cease the progression of the disorder and stop the muscles wasting, but we can help to try and avoid the danger...once we know it is there!

So, Dregans link to this is that he has had hiccups regularly since he was a baby - often at every meal! He coughs and splutters when eating, and often says 'It did go down the wrong way'. There is a test called a 'videofluoroscopy' which can be done to see how the swallow function is. We have been asking for this, on advice from specialists, for 12 months. The test has to be asked for by the speech and language therapist. Unfortunately, this is where we have hit a barrier. Long story (and many arguments) later, we went to our Neurologist and he said he would write to the correct department. With the wonderful support from our Neuromuscular care advisor, we received an appointment , despite the speech therapist saying she doesn't think there is any need because she watched him eating at school. We explained the complexity of the disorder, and that the problem is that people are often unaware there is a problem, but in Dregans case, we do see there is something...I said we are NOT going to stop asking so she might as well write the letter....

I actually was starting to feel like maybe I'm over reacting again, and that we were being treated like 'those parents', and it was really getting me down. But, I said, you know what, if it shows up as everything is ok - I don't need to worry anymore for a little while!

Well, I was right! Unfortunately Dregan failed the swallow test (Oh my, I am so angry at the speech therapy department!!)

It would seem that the sphincter muscle in Dregans throat is affected by the Myotonia, and isn't opening, so the food is gathering there. Also, when he was drinking water, it is Aspirating into his lungs. We saw it clearly on the screen. The scary thing is, he showed no reaction. The specialists who were in the room said this is the dangerous thing, because he is completely unaware of it. She said we did the test while Dregan was 'at his best' sat up straight, concentrating and alert, so the worry is how it is affecting him when he is tired, slouched, weak, etc....

So, there is a 2 part problem! We are waiting for the official report and advice, but honestly, I don't really know what we do from here. This is something I haven't researched so deeply in to, but it is a serious life threatening issue and we need to treat it as such. The initial advice was to try and avoid thin drinks, (such as water, pop, juice, etc) and get some drink thickener to add to them. I am not sure where to get this, or what it is, or how much to use, so need to get some advice.

I am heartbroken because, as we were told, this will only get worse. I really don't want to have to stop Dregan drinking his favourite drinks. He doesn't get pleasure out of a lot of things, I fear that food and drink is a simple pleasure that would make a big difference if it was taken away. You don't realise how simple a nice glass of coca cola is, until you're not really allowed it.

I'm sure Ill update again later when we know more....

x

Dregans story so far - Part 2.

Yesterday I left you with Dregan being sent for an MRI...... the story continues...... I am going to post it in one big post, as I don't really know where to split it.

Reading it was hard for me, writing it harder, but I felt a bit better for putting it all together.
x

So, January 2014 he was sent for an MRI under general Anaesthetic.

We had a letter saying there had been a small cyst found in his brain, but it was nothing to be concerned about because a high majority of people have these and they cause no problems. Other than that, there was nothing to report and ‘We will most likely never have a medical explanations for Dregans symptoms and disability’….in other words – we give up. We had an appointment to discuss the results in the April.

We never made this appointment because Dregan was taken critically Ill in April 2014. He suddenly started screaming one night at bedtime when we were on holiday. His head hurt. This was very unusual for Dregan because he didn’t tell us if he is in pain. He disassociates himself, thus never having a day off school so far because if he was ill, we never knew! He once broke his wrist and we didn’t know for 3 days because he just pretended it wasn’t his hand! He was even playing the drums with it – so for him to cry out in pain, we knew there was something wrong. The next morning he was still hurting, but then we had a day out planned, and he perked up, so off we went. There were times during the day when he just cried, and we knew there was something wrong, but then he’d start laughing and chattering and getting excited…what do we do? That night he was screaming in pain again, so we settled him, and first thing in the morning we took him to the nearest hospital. By this time his eyes were red and a bit swollen, but we thought maybe from crying. He was hiding his head, and hugging me, leaning on me, and crying. The hospital looked at him, and said they thought he just had a virus and gave him eye drops. We stressed that this was NOT our son, he doesn’t behave like this, and we were worried there is something seriously wrong. We were told that they wouldn’t do anything unless his symptoms changed. My husband asked for a head scan, as we were sure there was something wrong, and they said no. They actually said ‘He’s Autistic’ as a reason for his behaviour. Even when we pointed out, yes, and this is NOT how he usually acts – they refused to do any more. They asked if we were happy with the plan to go to another hospital if his symptoms changed, and we said ‘NO, we want him admitted and looking at'. They refused, but accepted we were not happy.

Western Super Mare A+E department, you failed us! And it could have cost my son his life.

A few hours later we were in our next hotel, and Dregan was hiding under the covers covering his head, howling in pain. Pete had gone to find more painkillers, and when he returned, Dregan was sick. This was a new symptom. We made the decision to cut the holiday short and drive home to our local hospital, at least there Dregan was known to the Paediatricians. We put him in the bath, and he relaxed ‘I do feel better’ he said as he was soaking in the warm water. But, when it was time to take him out of the bath, the screaming started again – his neck was hurting.

We drove straight back and went directly to A+E in Scunthorpe, Dregan was seen straight away. We were very lucky, the nurse we saw knew Dregan as he went to school with her daughter. She knew that being Autistic wasn’t an answer for all strange behaviour, and understood that we knew our son. He was taken to a dark room and given Morphine. It didn’t touch the pain. He was admitted straight away and started treatment for Meningitis within the hour.

It was Good Friday, and Dregan was given a CT scan. They attempted a Lumbar Puncture, to confirm Meningitis, but they were unsuccessful. It was torture. Over the next day he was slipping out of consciousness, and after many phonecalls back and forth between hospitals, he was rushed to Sheffield Children Hospital in an ambulance – they had found something on his scan. I must point out, that in writing this all sounds very efficient, but it was obvious no-one really knew what was happening and what to do. We were being told snippits, despite asking for ALL the information.
We had to wait until morning, and I was told by the night staff that ‘hes obviously poorly because hes on the NeuroSurgury ward, but its not that serious or they would be rushing around’ – this lady was in charge of Dregans care – she was of the ‘he’s Autistic’ train of thought. I was fuming. He was in and out of consciousness, screaming, by this time his eye was so swollen that it touched the glass on his glasses. He told me ‘I don’t think I am going to live to be an old boy’ – my heart was breaking. I was alone, as they would only let one parent in overnight and nobody was telling me anything. It was past 8pm and the staff had changed shifts.

6am next morning my husband was waiting at the doors to be let in. We were given a room in Treetops house, where we stayed for 6 weeks. It literally saved Dregans life. The people at Treetops House, Sick Childrens Trust, were wonderful, and later on in the year we had a big fundraiser and raised over £1000 for them.

8am, and we were signing forms for a general anaesthetic for an operation on his sinuses as they were full of puss. He has an Ocular Seclusion (?!!)), an MRI of his brain was needed to see the extense of the infection which had passed the brain blood barrier, and a PIC line to be inserted so he could have his antibiotics direct.

Over the next 3 weeks we were told he had a ‘Cavernous Sinus Thrombosis’ (actually, we weren't told, they told us what they had found but wouldn't give us any details, they flapped off every question. I googled it and this came up. When we asked is it CST, they said yes, and then started to talk a bit more!) – a blood clot in his head. This had caused Meningitis as a SIDE EFFECT. CST affects less than 1 in 10,000, and there is only a 1 in 3 chance of survival. Dregan was very lucky to have survived. We were told later that they didn’t expect him to come off the operating table, although they never told us this at the time.

We asked what long term effects this could have, and we were told ‘Lets just try and get through this critical period first’ – our question was never answered!
He was on litres of antibiotics a day, and he seemed to be improving….until…

I saw a change. They wouldn’t believe me. They thought I was over reacting again, but I KNOW my son – you would think that the fact we knew he was dying before they did would mean something…but no – ‘He’s Autistic!’ Seriously – AGAIN!!!!

Ladies and Gentlemen – Autism is NOT the be all and end all – it’s a dangerous way to think. Please listen to parents! We see the slightest change in our children, we know them inside out – we’re often the first to notice when something is wrong!

Suddenly they did start to listen. We insisted on more tests, and it showed that he had no white blood cells being produced, his red blood cells were extremely low, and his infection markers were through the roof. They had no idea what was causing it. Schedule another General Anaesthetic, lumber puncture, PIC line needs replacing. MRI and CT scans.

This GA was not as successful in our opinion. He was very poorly when he came round – crying, shaking, he was having a bad reaction. The man in the recovery room looked scared, but kept saying he was fine. We didn’t think so. But we’re only parents.

Later that day we had Immunology and Infectious diseases take over the case. They were described as the ‘Brains’ and they were testing for EVERYTHING. I was saying it was his antibiotics, they said no. They thought he had a condition called HLH, which would be very ‘unlucky’ after coming through a Cavernous Sinus Thrombosis. It is very rare, inherited, so we needed all our family histories. He needed another GA and they needed to do a bone marrow biopsy while he was having another MRI. Most people with HLH don’t survive 2 months from diagnosis, I spent the night hugging him, with him telling me ‘I feel I have no blood’ after they had to retake 6 vials of bloods because they didn’t get the previous 6 to the lab in time. The worst night of my life.

8am, he was going for his 3^rd General Anaesthetic in as many weeks. We received the results later that night, no HLH in his marrow ‘but it could be elsewhere’, and ‘we think he has an infection somewhere, we can’t find it, maybe his heart’ – so more tests, ultrasounds, etc….

It turned out he was allergic to the antibiotics.

They realised and changed them, after nearly killing him, and he slowly started to recover. He is now so severely allergic to antibiotics that we have been told that if he is given them, it would have devastating effects. We are still waiting, a year on, for the Allergy clinics to test him to pinpoint exactly which ones.

So, he spent 6 weeks in hospital, saw Ophthalmology, ENT, General Paediatricians, Neurologists, NeuroSurgeons, Students, Nurses, numerous Attendees. A different person from each department each time, all the way up to the ‘big brains’ at the top….and NO-ONE was interested in what we were saying about his hands, no one picked up his CDM, because that was a ‘different issue’.

In August 2014 we were attending an appointment with the Neurologist, as Dregan still had a Thrombosis, and we asked to be seen so we could be given advice. He said hello, and apologised for not having his notes. Asked why we had an MRI in Jan, we told him. He turned to us and said ‘I know what that is, I am going to look much cleverer than I actually am, and diagnose you, within 5 minutes, with no notes’ – then he said the words ‘MYOTONIC DYSTROPHY’

We were there for advice on a blood clot in Dregans head, and were told ‘That’s the least of your worries’ – bloods were taken there and then for a Genetic Test.

I was 16 weeks pregnant, so was tested the week after, Dregan test was expedited and we had his results within 7 days. Confirmed Congenital Myotonic Dystrophy – the last 15 years finally made sense.

My results took 1 week, I was negative for the gene. Dregan had once again caught the rare end of the stick, and inherited it from the Paternal gene. There is less than 1% chance.

So, this is how we got our diagnosis. Every single symptom Dregan has shown can be associated with Congenital Myotonic Dystrophy.

Dr Tony Hart, of Sheffield Children’s Hospital – you are our hero!

We have seen hundreds of people over Dregans lifetime, and not one of them thought of CDM, all it took was one man who recognised the symptoms to call it. The symptoms we were told we would never have a medial explanation for.

15 years ago it was not believed that CDM could be inherited from the Father. This is not the case. It was even more of an unknown disorder back then, so that may be why it was never diagnosed. After all, the chromosome responsible was only identified in about 1996. If nothing else, our experience proves that more research is needed into this disorder, and we need to raise awareness with all medical and educational professionals – and the wider public.

Dregan has had no ongoing effects from his critical illness last year, although it does seem to have sped up the progression of the disorder. He is deteriorating visibly, but maybe this is something to do with becoming a teenager…. More research is needed as we simply don’t know why and how the disease progresses from person to person. More children with Congenital DM are living longer as treatment is improving. Now if only we could understand it a bit more.

x

A year ago today...............

We heard the words 'Myotonic Dystrophy' for the first time - I cant believe its been a whole year already - we haven't had time to breathe, and I don't think its sunk in properly yet.

On our holiday in Italy last week I started writing a short piece on Dregan, and it turned into an essay. I can't use it on the article I needed it for, but I can post it here....

Grab a brew and a biscuit (or 2).... wait a minute - Ill post it in 3 bitesizes parts.... you can still have a biscuit though ;-p

Dregan: Birth to diagnosis..... (in 3 parts!)

Dregan was born in 1999. Labour started as textbooks tell you it will. Then it all changed. I was in active labour for 36 hours, and eventually wheeled down for an emergency C-Section under general anaesthetic. Dregan was not moving down as expected, and his heart rate was dropping dangerously low. I never really knew what happened, nobody told me, but I do remember it was longer than expected for them to bring me round. I recently found out, some 15 years later, that Dregan was Bradychardic and had some difficulties breathing.

He was taken to Special Care as he was ‘grunting’ and needed help breathing. I was very poorly so it is all a bit of a blur, but I remember I was not able to feed him. He was in Special Care for 9 days. Nobody really explained what was happening, and after we were sent home there were no follow ups. ‘Just one of those things’.

Dregan could not breastfeed, he didn’t have the sucking ability, and we used bottles with bigger holes. His development was delayed, he sat up, crawled and walked later than expected. And his speech was severely delayed. He struggled to eat, and could not chew. He was on baby food jars until he was 2 years, and then he would only eat certain foods. He did not eat anything messy – he was quite picky! At his 18month check-up I expressed concern, to be told that it would come on by his 24month check. I pointed out that he was actually 23months and they were late with the check. The health visitor showed some concern, but didn’t really give any advice.

At 3 years old, it was more apparent that Dregan was having difficulties with his speech and development. He was sent for a brain MRI, but nothing obvious showed up, and we were told, again, ‘we don’t know’. He was diagnosed with Speech and Language difficulties, and some developmental delay.

Dregan is the eldest in his school year, so he was almost 5 when he started full time school. He was obviously not on par with his peers, but ‘he will catch up’. He was put into a specialist school class called a SERF unit (for speech and language disorders) and they said children usually spent 18months maximum in there, and then moved on into the mainstream classes. Dregan was there the full 3 years, and then he was diagnosed with ‘Verbal and Motor Dyspraxia’, ‘Semantic, Pragmatic disorder’, ‘Sensory Perception Disorder’. We were told if he had these diagnosis before he started the SERF unit he would not have been allowed to go there.

He moved into mainstream school, because he had outgrown his stay at the SERF, and there were no other options. We were by this time seeing many specialists, Paediatricians, Physical Therapists, Occupational Therapists, Speech Therapists, and Educational Psychologists. They all did their individual assessments, and gave him a few more labels. I applied for a statement of Special Educational Needs, and tried to get them all to talk to eachother. By this time it was clear Dregan was Autistic, and he still had severe speech issues. He was 8 when he received his Autism diagnosis, and his statement. I have to say, the only reason the Statement was granted was because we mentioned we were moving out of the area, and we were actually told they would grant it because we would be another Authorities financial responsibility!

When Dregan was in year 4, we moved over to North Lincolnshire with my new husband, and he attended a small village mainstream school. By this time his Autism and Learning difficulties were more pronounced, he was not reading and writing, and he was not an active part of the educational class. We had to start again with the specialists. We met some wonderful supportive people, who we still feel close to now, he had a lovely time at the school. But it was not an educational experience for him. And we still didn’t have any answers, just more questions as time went on.

Dregan now had a long list of diagnosed conditions, and we were even more convinced there was something else causing it all. We were regularly told it was unfortunate that he had so many separate issues, and its almost like they all interact with eachother. We simply could not get departments to talk to eachother. We had people not believe us when we told him he got hiccups every day, multiple times a day, and that he seemed to struggle to swallow. We had people think we were making it up that his hands were ‘freezing up’ and that his fingers would go extremely stiff for a minute, for no apparent reason. I was saying at every appointment that I felt he didn’t have much strength in his jaw and hands/arms.

We are fighters, and we didn’t take no for an answer. We just knew there was something other than ’Autism’ causing his difficulties. By the time Dregan went to high school (a specialist school), he still could not read or write, he was going backwards in some respects. He struggled to know when he needed the toilet. He could not express himself, and it was becoming more apparent that he didn’t always understand what we were saying. His cognitive difficulties were more pronounced as he developed in other areas. But, he had a diagnosis of Autism, and everyone kept saying ‘oh, he’s Autistic’ – other children with Autism could read and write, and walk without banging into things or falling. This wasn’t an acceptable response to us.

This went on for so many years. In between all this we were struggling with Dregans younger brother, who was subsequently diagnosed with ADHD, Aspergers and Hypermobility. He was the other end of the scale to Dregan though. (Xander has since received a negative test for DM)

At the end of 2013 we were at another Paediatric assessment, and the Doctor said he had ‘run out of ideas’. He agreed to send us for another MRI, upon our firm request, because there must be a reason his hands were seizing up so regularly. Multiple times a day, sometimes just when he moved his fingers. Also, he had gone further backwards in his education and the school test results were showing this. So, January 2014 he was sent for an MRI under general Anaesthetic......

 

Part 2 to follow......

Time flies, when you're having a baby......!

Wow! I have just realised how long its been since my last post! SO MUCH has happened - too much to go into detail in one post, so I will give a basic update....

It was the beginning of December when I last wrote - since then:

* Dregan was in hospitral AGAIN for another 3 days, just a week before Xmas. It took him a while to recover - he had antibiotics this second time as his infection markers were way up again. As we know, he is allergic to 'Cillin, 'Cef and Metronidazole - but we found one he could take. He was ill for quite a while this time, it seemed to take it out of him.

* For the rest of December we had a whole bunch of  appointments, for both boys. Including Cardiology for Dregan. 

*January saw LOTS of maternity related appointments, including a weeks stay in hospital for me as I went into early labour (34 weeks). Steroid injections for the baby's lungs, and the start of contractions every 4 minutes.....

* Dregan had an appointment in Sheffield where it was decided he needed an overnight sleep study, as well as a Physio consult. It was found that the muscles on the bottom half of his legs are deteriorating, and advised he should walk with a stick to help support him and avoid injurys. We were told he would probably need a wheelchair in the future. He was seen by the 'foot doctor' who fitted him with insoles in his shoes. Multiple meetings at school. 

* We got the report from the social services meetings we'd been having - you'll remember those - the meetings to get some support for Dregan. The ones we didn't want to have but were assured he would get some support? Well, he didn't! After SO MUCH stress, meetings while I had a broken rib, while I was in early labour, over a period of moths, where we were trying to explaint he condition and they didn't really listen or take it in - while Dregan was in hospital and even at home when he was poorly.... apparently there are no safeguarding issues so Dregan doesn't need any help. They actually said, we wern't abusing him, so they don't need to keep an eye on us!!! The fact he needs support to become independent has totally been overlooked. We are fuming - thats a rant for another day......

* February - Dregan had an appointment with Neurologist, ALT at school (to find some communication aids for him), bloods in Sheffield for the Immunology appt we had been waiting for. Also, the dietician and the speech therapist at school....

*All interupted on Valentines day when baby River decided to be born 4 weeks early!!!! I was quite relieved, my contractions hadn't abated, and I had had very little rest since being hospitalised. Every 4 mins for 2 weeks is exhausting!!! 

* Things get a bit more hectic now - River is poorly, and we still have multiple meeting for Dregan and Xander - now is the time the help we were promised from Social Services was greatly needed!! Dregan had Orthotics (for his insoles) and OT appointments, and Xander has his medical appts too.....

* Im in hospital with River still on my birthday (20th Feb), quite a sad day for me, as I wanted to be with the family. But River was still hooked up to machines and under the blue lights. Pete brought the boys over the day after, and we had pizza and played cards. I was utterly exhausted though....

* We were able to bring River home, but he was sent back urgently straight away, as he got more poorly with his Jaundice. So scary - he was let out again on Pete's birthday (6th March), only to be re-admitted 2 more times. 

*During all this - Dregan had his overnight sleep study in Sheffield, and had his immunology appointment, also in Sheffield. Except, when Pete got there for Immunology, they had cancelled it and forgot to tell us!! STRESS! 

* An appointment at the Genetiists in Doncaster, where it was discussed that Xander may need to be tested for Myotonic Dystrophy - not a happy thought! I have a whole blog post in my head on this one....

* Meeting at Sleep clinic to discuss results - it was decided that another sleep study is to be done, and also a day study to check for Narcolepsy. I don't think he has Narcolepsy. I think he has excessive daytime sleepyness which is attributed to his CDM, but they want to check!

* River is still having his jaundice checked - they think he has a genetic condition, but thats a long story for another post too. In the meantime, he is regularly having his bilirubin levels checked. In Grimsby - a day long every time....

*April was relatively quiet for Dregan - he had some meetings, but it was mostly River who was in and out of hospital this month.

* May - Cardiology appt for Dregan in Sheffield. His results are not entirely normal, but not at the worrying stage yet. It is thought he may need a pacemaker in the future, but at the moment we just need to keep an eye on him. His blood pressure is very low!!!

 School statement review (3 HOURS!!!!) - multiple appts with River!

* We took Xander to the Neurologist who believes there is a strong chance he has inherited Myotonic Dystrophty - he was tested. Now we are waiting the results. Ive struggled a bit this month :-(

* Multiple appointments cancelled on us - SO FRUSTRATING! Including occupational Therapy, and Transition meetings! 

*June - so far this month we have had the transition appointment (utter waste of time - but I haven't got the energy to go into detail just now) and Occupational therapy home visit (possibly helpful!). 

It has been Xanders birthday this weekend, so we have had some nice family time.

And now we're up to date......

So much good stuff has happened too, I have met (online) a WONDERFUL group of people who have children with congenital myotonic dystrophy, and feel like the support is there from others who understand. We have a beautiful baby who has brough sunshine and rainbvows into the family. We have booked a family holiday for the Summer.

So, thats a quick basic update - I haven't gone into detail, as you can see, it would fill a book, and there is lots I have missed. I am sure I will get more detail in as I update (hopefully more regularly) as there is still so much going on.

Im going to leave it there for now....night night!

River Mika Edwin Ashley

14.02.2015