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 3rd 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
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