18 days to go

18 days to go til lowering ourselves backwards down a cliff!  All in the name of charity and to raise awareness for a condition our son, Corey, has called MPS1 or Hurler syndrome.  Donate at www.justgiving.com/mpsabseil 

I'll carry on from yesterday's post with Corey's BMT journey.

Corey's Bone Marrow Transplant (BMT) journey began on July 19th 2009, 1 month before his 1st birthday.  He was admitted to Bristol Children's Hospital Level 7 and didn't leave until 30th August 2009.

Corey's BMT involved 10 days of intensive chemotherapy.  He had 3 different intravenous chemo drugs and then their relevant drugs to counter act the side effects.  Anti sickness, pain relief, anti gout,  anti fungal, fluid to flush the drugs through, drugs to ensure he peed enough fluid out, anti seizure, anti spasm and high blood pressure medication.

He also received his enzyme replacement therapy (ERT) infusion during this process.

This is a Hickman line.  A catheter straight to the main artery by the heart where intravenous (IV) drugs are pumped into.  This is a double lumen catheter meaning he could have 2 drugs running at the same time.

After 10 days we were moved to 'isolation'.  Cubicle 10.  Corey stayed in this room for 30 days.  Including for his 1st Birthday.

He was allowed 4 named visitors plus BMT nurses, a handful of doctors and the very important play and music therapists.  Some of what we had to do to ensure stringent isolation cleanliness and a 'bug/virus free environment' were - we had to change into scrubs each day and his bedding and clothing had to be washed daily at 70 degrees and tumble dried.  Only brand new items were allowed in his room after packaging had been opened outside his room! Everything had to be plastic and be able to be washed with alcohol wipes.  Corey couldn't eat fresh fruit and vegetables in case of contamination so he was a processed food junkie.  Despite complications with nutrition post transplant, today Corey is happy to try new foods and has a great varied diet.

Corey's first trip outside in fresh air for 40 days.

19 days to go

19 Days to go.  Abseiling 80ft down Brixham's Berry Head in blue to raise awareness and funds for The MPS Society.  Please donate at www.justgiving.com/mpsabseil 

Following my previous post I will carry on telling you about the treatments that Corey has received.

The 'main' treatment for MPS1 / Hurler Syndrome is a Bone Marrow Transplant (BMT).  Also known as a Cord Blood Transplant as donated umbilical cord blood can be used or the medical term - Hematopoietic Stem Cell Transplantation (HSCT).

It is best for Hurler kids to be 'transplanted' before they are 2 years old because even though the damage already done by the storage of GAGs is irreversible, the sooner the better for it to work best slowing down further damage.
The problem with this is getting children diagnosed before they are 2 because the disease is so rare (1 in 100,000) lots of doctors don't know enough about it.  This is where I count ourselves 'lucky' to be able to have a transplant before Corey was 1 and why it is so important to raise awareness of MPS.

Corey's transplant was from a very special Spanish mum who donated her son's cord blood at birth.  We will never know who she is but she was the first person to save Corey's life.

 The BMT process wipes out the body's immune system. The actual transplant is just like a blood infusion.  The new blood stem cells rebuild the immune system by doing their thing and hopefully they 'engraft' without complication and hey presto his body now produces the missing enzyme.

This treatment is extremely risky as something like a cold virus could potentially kill you when you have no immune system and then there's graft versus host disease, veno-occlusive disease and many other complications which have taken the lives of children during this process.  There is also a risk that it won't work and the body will reject the new cells - sometimes another transplant can be done and sometimes you're left on enzyme therapy for life.

We were extremely lucky in that Corey 'sailed' through transplant, it wasn't until later that he developed complications.

20 days to go

20 days to go til our abseil at Berry Head, Brixham.

So I've told you a bit about what MPS is and some symptoms that Corey has, today I'm going to tell you about some of the treatment he has received.

MPS1 means Corey was born missing an enzyme, without this enzyme (alpha l iduronidase) his body stores GAGs (glycosaminoglycans) which is what causes the symptoms of MPS1 - Hurlers.

Some very clever peeps have developed a synthetic enzyme to replace the one that Corey was missing, called Laronidase.

Within 2 weeks of Corey's diagnosis we were up at Bristol Children's Hospital receiving a 6 hour infusion of this drug. And every week thereafter.

This involved arriving in Bristol by 9am, Corey getting cannulated (another symptom of MPS is thick skin and bad veins) so this was always traumatic, waiting for infusion to start and finish and occupying an 11 month old confined to a bed!

Between May 19th and July 19th we were in Bristol every Monday for this expensive wonder drug, which made his breathing easier, reduced the size of his liver and spleen and made his joints less stiff.

In these 2 months he also had an MRI, an ECG (ultrasound of his heart), a Hickman line placed, a bone marrow aspirate, various X-rays and a lumber puncture.  We met with umpteen doctors and went through a period of learning about his next stage of treatment - Bone Marrow Transplant.

21 days to go

21 days = 3 weeks to go! Shane Jeffery Phillip Butterfield Kate Davies
Corey is a very sociable child. He likes swimming, water slides, learning to ride his bike, playing football, going to the park and he loves his trains!  
He is mad about Thomas the Tank Engine and collects the trackmaster range. He watches YouTube clips and copies the layouts and plays worlds strongest engine, worlds fastest engine, worlds strongest team, we have even played tug of war with paperclips!
He writes down the names and does quarter finals, semi finals and finals and the latest game we have played is timing the trains round a track to find who was fastest. It must be good math practice!
He knows the names of all the trains, likes reading about them and probably even dreams about them too!
Please donate at www.justgiving.com/mpsabseil

22 days to go

22 days to go!  Shane Jeffery Phillip Butterfield Kate Davies
Today I want to tell you about Corey's spine.  
Corey has spinal cord compression at the very top of his spine.  
In medical terminology they call it a 'craniocervical abnormality with significant narrowing of the spinal canal at C1/C2'.
C1 and C2 are your top 2 vertebrae, under the 'peg' which your skull sits on. Your spinal cord is protected by surrounding spinal fluid in the spinal canal. In Corey these 2 vertebrae aren't formed properly and are pushing into the spinal fluid canal not allowing a big enough gap for the spinal fluid to flow through and are therefore too close to his spinal cord.
If your vertebrae touch / compress your actual spinal cord then you could suffer with temporary or permanent paralysis. Because it's the very top of Corey's spine it would mean paralysis from the neck down.
To prevent compression of the spinal cord, our neurosurgeons can perform an operation which would shave some bone off and fuse together the vertebrae - C1 and C2 which would stop them from pushing into the canal any further. This would prevent growth and turning of the head. IF they were to perform this operation now, Corey would need to wear a 'halo' - a frame around the head which sits on his shoulders which acts as a plaster cast for the spine whilst it heals. 
Corey is monitored closely with annual MRI's and 6 monthly clinic visits and any changes are flagged up, hence why he had an MRI yesterday.
Corey is not allowed to trampoline, do forward rolls and any activity which could cause a whiplash type injury or jolt his head / spine.
Despite this we try to ensure Corey is as active and participates in as much as possible but occasionally you may hear me screeching at him to stop or get down or him being upset that I've told him he can't do something!
Please donate at www.justgiving.com/mpsabseil

23 days to go

23 days until we have to lean over the edge of a cliff at 80 ft and abseil to the bottom!  Shane Jeffery Kate Davies Phillip Butterfield

I'm actually afraid of heights but have renewed energy to face my fears today! Corey had an MRI scan under general anaesthetic but before that he had a trial in the scanner, awake! 
MRI scans are annual affairs for Corey to check his brain and spine to see if there have been any changes, but due to some behavioural changes this one has been brought forward to 5 months. 
He has to have general anaesthetic as you're not allowed to move during it and the scan takes approximately 45 minutes. As Corey is a high risk anaesthetic due to narrowed airways and possible complications caused by MPS, these are always done at  Bristol Royal Hospital for Children.
We went to a pub for a carvery dinner tonight (after hospital visits Corey has free reign to do anything he wants!) He said he liked it there but didn't like hospital. I asked if he was scared at hospital and he said "No, I just don't like it when they pull my skin off" meaning pulling the plaster off and taking the cannula out before we can come home!
So, if he can do everything he's done today and not feel scared and still have a smile on his face, I'll be smiling my way down a rock face thinking of how amazing he is and that I'm doing it to raise money for The MPS Society who will eventually find a cure for this disease that puts my child through so much.

Please donate at www.justgiving.com/mpsabseil

24 days to go

24 days until our abseil 80ft down Berry Head!
I am counting down the days to our abseil by raising awareness of what it's like living with a child with MPS1 Hurler syndrome.
Corey wears glasses. He is long sighted and has an astigmatism meaning his eyes balls are rugby shaped not football shaped. 
He has cloudy corneas, which is what prompted the initial test for MPS when he was 8 months old. The front part of his eye is not clear like it should be so it refracts light differently causing squints and eventual blindness.
We visit the optician, optometrist and ophthalmologist every 6 months at our local hospital. These appointments involve lots of tests and eye drops and more tests and can take up to 2 hours. Corey is also monitored for high pressure in his eyes due to post transplant complications. 
These are one of the worst appointments for us as he hates the eye drops and by the time he's seen 2 specialists when we get to the last one he's had enough and doesn't want to sit still in the chair with his chin on the stand pretending to ride a motorbike, long enough for them to have a good like at his eyes! 
Please donate at www.justgiving.com/mpsabseil

— with Shane Jeffery and 2 others.

25 days to go

25 days to go! I was talking with friends earlier about how Corey's hair and face has changed over the years due to treatment he has received. So todays post is photos of Corey through the years. He had chemotherapy which made his hair fall out, cyclosporin which made his hair grow back, everywhere, and steroids which made him gain weight all before he was 3! Donate at www.justgiving.com/mpsabseil

26 days to go

26 days - please sponsor me and Shane Jeffery and Kate Davies and Phillip Butterfield and Scott to abseil down Berry Head on Saturday May 16th wearing blue!  
We are raising money for the MPS society. A charity who provide advocacy support and fund research to find a cure for these devastating diseases. Corey, Shane and Teresa's son, has MPS1 Hurler Syndrome. 
Hurler syndrome is the severe form of MPS1. There is NO CURE. This is a life limiting disease and without treatment children have a life expectancy of less than 10 years. Even after treatment life expectancy is still limited. There is a 1 in 100,000 chance of having MPS1. Both Shane and I have a 'spelling mistake' in our DNA and Corey has inherited both our spelling mistakes. There is now a 1 in 4 chance of each of our children having Hurlers and this can be tested for prenatally with a CVS test at 11 weeks. There was no way of knowing that we were carriers of MPS until Corey was diagnosed. We have since had 2 affected pregnancies, Sophie and Nathan, and in 2012 we were blessed with Joshua who is either a carrier or completely unaffected.

27 days to go

27 days til we drop 80ft! Phillip Butterfield Shane Jeffery Kate Davies please sponsor us at www.justgiving.com/mpsabseil

Today I will tell you about Corey's knobbly knees!
He has knock knees - there is approx a 10cm gap between his ankles when his knees are together. Corey's bones haven't developed properly and he will have surgery within the next few years to straighten them up. This involves putting plates in his legs in 4 places to stop his bones growing on 1 side therefore allowing the other side to 'catch up' and straighten his legs.
We see an orthopaedic surgeon every 12 months at Bristol Children's Hospital.
Corey wakes up in the night sometimes, complaining that his knees hurt, usually after soft play!

28 days to go

28 days to go! Shane Jeffery Kate Davies Phillip Butterfield

MPS causes a build up of GAGS (glycosaminoglycans - long chains of complex sugar molecules) all over the body. One place these are stored, instead of being broken down are in joints. 
You can see that Corey's fingers cannot lie flat, they are 'clawed', a classic feature of MPS diseases.
He suffers from intermittent pain in his fingers and hands and it hurts if he falls onto them.
At the moment this hasn't hindered his motor skills too much although he can't do up buttons or zips but he's pretty good for short bursts on a climbing wall! 

Please donate at www.justgiving.com/mpsabseil

Countdown to MPS Awareness Day 2015

With MPS Awareness day coming up on May 15th and as Corey is the face of the 'Wear it Blue' campaign I felt the need to do something 'big' this year!
So I have roped in Shane and a few friends and we are abseiling 80ft down a cliff at Berry Head in Brixham!
To tie in with asking people to donate to The MPS Society I took to Facebook for a countdown whilst raising awareness of how we live with MPS and what Corey has to deal with on a daily basis.
Then this weekend I thought I should put it on here also - for those of you who aren't on Facebook and may still get an email if you're following the blog!

So here's the catch up for the past 10 days!

29 days to go til we lower ourselves down an 80ft cliff!  Shane Jeffery Phillip Butterfield Kate Davies Please donate at: www.justgiving.com/mpsabseil

I figured I'd give you an insight into life with MPS over the next 29 days. The good, the bad and the ugly - it's all in the same package you see.
I'll start with an obvious one - Corey wears hearing aids.
He was born with severe hearing loss which has fluctuated over the years and, at the moment, he is classed as 'moderately severe' meaning he can't hear a dog bark, an alarm clock and certain phonic sounds like ch, sh, k, ee and f without his aids.
He has hearing tests locally every 8-12 weeks which take about an hour and is also seen in school by a hearing advisory teacher each half term for about half an hour.
Corey wears radio aids at school which allow his hearing aids to filter out background noise so that he can just hear the teacher.
He wears his hearing aids from 7am til 7pm.
Corey chooses the colour of his hearing aid moulds each time they need changing, at the moment they are green and yellow!