28 August 2018

It’s been a while!

I promise I have had good intentions to start writing on here again, but I guess when things are plodding along nicely, there’s not much to say! And that’s not saying that things aren’t plodding along nicely - they are!

So, today Corey is in having his knee surgery to correct his “knock knees”.  Common in MPS.  Probably common outside of MPS too!
It’s called 8 plate surgery as they use a plate and 8 screws, about the size of a paper clip. They put this into his tibial growth plate which inhibits the growth of his tibia, but allows his fibula to continue growing which will, over time, straighten up his legs.  In addition to this, which we only found out today, he will be having a screw put in each ankle bone to help guide that growth too as his ankles we’re growing inwards too.
Eventually, in a few months or a year or so, he will have all of these removed, once they have done their job.

I wanted to write on here today as it’s hard to convey feelings in a Facebook post!

Corey had his first anaesthetic when he was less than 4 months old to fix an inguinal hernia.  Pre diagnosis of MPS1, pre knowing anything and first time parents.  Shane had to take him in as I couldn’t face the thought of watching him fall asleep.
I’ve actually lost count of how many anaesthetics he has had now, Shane will find that extremely hard to believe!  Me and all my hospital diaries and notes etc but we’re definitley in the twenties,  I think I stopped counting at about 24 or was it 28?  I have been there for the majority of those, not because Shane hasn’t wanted to be, he’d be here in a flash, for one reason or another it’s logistics, we’ve done a few together and Joshua doesn’t come up when it involves an anaesthetic as I can’t leave him on the ward and take Corey down and Joshua doesn’t need to see his brother in that situation.

Well today, on anaesthetic whatever number, nearly 10 years on from his first, was the first time that he didn’t cry, he didn’t fight, he didn’t struggle, he breathed in the fumes and fell asleep.  I haven’t cried when he’s gone under, but I nearly did today, out of pride.  I was literally bursting with pride at how well he did.

To me he is the epitome of a hero.  He didn’t ask for any of this that he has had to face but is so brave and courageous in how he deals with it.  When life throws so much at you and you just get on with it with a smile on your face, that is strength.  And he has no idea how strong he really is, because that’s just life.  And life can be unfair and everyone has their battles, we’re just fighting ours whilst everyone else around us is getting on and fighting theirs.

This is the first time he has had full awareness, full disclosure and knowledge about what was going to happen.  He’s known for a year or so that he will have to have this operation, we just didn’t know when.  He’s asked questions about it along the way and absorbed the information we have given him, he’s asked the doctors questions and been happy to let everyone know that he was having an operation!  He even counted down the days, like he did for his birthday!  I’ve never known a child count down with excitement about a hospital trip, but then maybe his mind and body can’t tell the difference yet between excitement, anxiety and anticipation.

So, as I sat with a coffee and started writing this, he has since come back from theatre in pain, so received paracetamol, diclofenac and tramadol.  If his pain worsens he can have oramorph, so he’s on all the good stuff!
He’s eaten and drank water and we have to wait for a physiotherapist to visit us before we’re allowed home.  He’ll be given a walking frame and has to take it easy for a week or so.  He can weight bear as and when he can tolerate it but will be sore for a few days.  Now he’s actually fallen asleep!

I think that’s alll for now, thanks for reading, and as always I’ll try and write more often!

Teresa x

Where's the summer?

As always I have been meaning to write sooner but 3 months is a good start!

Our MPS fundraiser went amazingly well.

We raised £2510 and 7 of us are 82 inches of hair lighter!



The morning was just fantastic, so many people came out to support us and I was completely overwhelmed that it was all about Corey!  He was in his element handing out stickers to everyone as they arrived and by our calculations there were over 250 people within the 2 hours.  I can't thank everyone enough, those who came and made it such a success and to those who donated prizes and their time to help.

On Friday 13th (!) we had Corey's MRI results.  His spine showed stability which is great.  Obviously we still have to watch out for any signs and symptoms of spinal cord compression but radiologically there has been no change.  We are still waiting for results regarding his hips and knees despite my weekly phone calls to the consultant's secretary.





















After this good news we boarded a plane and headed for some proper sunshine in Menorca.  We all had a fabulous time, swimming every day and visiting the beach.  Just generally chilling out and relaxing and enjoying time together as a family, in the sunshine!

As you may recall we have recently moved house and haven't got round to decorating anything yet.  On our arrival back home, from holiday my amazing friends had a massive surprise in store as they had redecorated Joshua's bedroom and turned it from the original purple and pink girls room into a proper boys dinosaur room!Our very own DIY SOS and 7 day makeover team!

Corey wasn't excluded from the makeover either and his room had some extra decorations in it but our plan is to redecorate it properly over the summer.

We're still here!

I know, it's been such a long time since I wrote to you all and caught you up on our news.  Truth is, we're plodding along getting on with life and all that it has to throw at us!

Facebook is a mainstay in updating the important stuff on a more regular basis but I have missed the cathartic feeling that writing on here gives me, especially at emotional times concerning MPS where I could say exactly what I was feeling about it and how it was affecting Corey.

When I started writing the caring bridge blog https://www.caringbridge.org/visit/coreyj it was because we were removed from our family and friends so it was like a conversation, albeit one way!  But it allowed me to tell you what was happening in our lives, on our journey and you could still be a part of it.
Nowadays we are living amongst our family and friends and see as many of you as we can on a regular basis so you are now enmeshed in our everyday lives leaving me with not much to write to you about!

I won't back date, I'll just start with the recent stuff as I fully intend (my mid year resolution) to write more often.  Heck, I've even joined a writing course run by the local carers register to help me get back on the writing wagon!

Quick back story, just in case you've forgotten who we are!  Corey is at mainstream school in year 3,
he is 7 years old and has a little brother, Joshua, who is 3.  They get along most of the time but know exactly how to wind each other up.  Teresa (me) and Shane have been together 20 years now and married for 7.  We have recently moved house to a bungalow - future proofed for Corey as he gets older his mobility may reduce significantly.  And it has a garden, something we have missed as a family and are very much looking forward to making the most of, if the summer ever turns up in the UK this year!

Last week Corey and I headed up to Bristol for his annual metabolic clinic check up.  We met with the metabolic team from Bristol and Manchester and I like this clinic because we talk to people who know more about MPS than I do, which is a refreshing change.  I had concerns about Corey's hands and feet because they always seem cold and even in the height of summer he wants to wear socks to bed.  This is an MPS thing, there can be poor circulation in the extremities.  I'm still learning new things.
Corey tires very easily and complains a lot about being tired but sometimes I wonder whether he's just being lazy or whether its because he just doesn't want to do what we want him to and it's just good to be reassured by medical professionals that his condition causes this and it's 'normal' for him and others with MPS.
To have a busy day means that the next day we will have to take it easy.  His body is not made right.  Not just that his body has a build up of crap in his cells that shouldn't be there but that his bones aren't made right and don't fit like they should, the fact that he is deaf and he has to try harder and use more effort all the time to do what we take for granted, being able to hear and join in conversations.  The effort it takes to repeat himself when he is not understood and I get this because when I have to repeat myself to people it tires me out!
It all factors in to why he gets tired and even as I live with him each and every day, I have to remind myself that things have to be different sometimes.  
We stayed over in Bristol as he had to have his annual MRI the following day and we had to check in at 730am.  I was hoping to take Corey to the science museum and planetarium but he 'was too tired' and wanted to play in the room at the hotel, so we read stories and did some colouring and learnt something about St George and played games until dinner time.

MRI prep via play dept
lego model of MRI scanner

Corey has become much more aware in recent years of the anaesthetic room.  He gets upset easily now when I tell him he has to have an MRI and that he'll need to have a sleep.  The past 2 MRI's he's been able to go in the room and see the machine and have a lie down before having anaesthetic as eventually he'll need to be awake for them and lie still for however long it takes.  He usually has head and spine which can take around 45 minutes, this time he was having hips and knees too and he was gone for just over 2 hours.

I have a tally somewhere of exactly how many anaesthetics Corey has had but we are in the mid twenties and I thought it would get easier but it gets worse.  Corey has to be the most forgiving child ever.  I held a mask to his face whilst 2 nurses held his hands and feet and watched his eyes close and when he woke up he still told me he loved me.  That's what gets me emotional, that I can't take this away from him and he has to go through it time after time.
That wasn't the worst of it this time around either, they forgot to take the heart rate monitor stickies off his chest before he woke up and I didn't think anything of him having a bath and soaking them off later that night but oh no, Corey had different ideas.  He thought they were inside him and spent an hour that night crying that they hurt but that we couldn't take them off because that would be worse, he wouldn't even let us see them as he was scared.  He slept in them and in the morning wanted a bath but still wouldn't let me try to take them off until I chucked baby oil all over his chest and they came off a lot easier!  It was so traumatic for him and something I will always ensure the doctors never forget to do again.
 
So, that's where we are today.

MPS Awareness day is upon us in 3 weeks and I'm hosting a coffee morning once again to raise funds and awareness.  I am also being sponsored to have my hair chopped off and the actual hair will be donated to The Little Princess Trust who make wigs for children going through cancer treatment.  I have also roped in 6 friends to have their locks chopped off too!

If you'd like to sponsor us you can here: https://mydonate.bt.com/fundraisers/mps2016

If you'd like to come along for coffee and cake, details are here: https://www.facebook.com/events/1727778400800660/

As always, thanks for stopping by,
Much love
Teresa

Abseil Day!

1 day to go

 Shane Jeffery Kate Davies Phillip Butterfield Helen NicholsonLeanne Wilkins til we abseil 80ft down Berry Head to raise money and awareness for The MPS Society

The amazing Karen Miller has made some beautiful blue cupcakes and the wonderful owners at the Guardhouse Café at Berry Head have agreed to sell them with proceeds going to The MPS Society.

After our abseil we will be heading up to the cafe for a well earned cuppa and cake - please come along and join us!

Or you can donate at www.justgiving.com/mpsabseil or text MPSA85 followed by £1,£2,£3,£4,£5,£10 to 70070

International MPS Awareness Day 2015

3 days til abseil

May 15th is International MPS Awareness Day.
A day to 'Wear it Blue' in the UK, (purple in the U.S.) and tell everyone you know about Corey!
Please donate by texting MPSA85 followed by £1,£2,£3,£5,£10
To 70070

I'm already wearing it blue!

4 days to go

Please donate at www.justgiving.com/mpsabseil

Corey, his brain and school. 
MPS affects the brain and can cause mental delay. Despite Corey's treatment MPS is still progressive and degenerative - this means that skills he has learnt throughout his life, in the future he may lose those skills and regress.
Doctors tell me that the MRI scans of Corey's brain look like a 'typical Hurler' brain, I was also once told that a typical brain looks like lots of ridges where as an MPS brain is more smooth.
Corey is the youngest boy in his year and is currently working at an age appropriate level in year 2.
Corey has a Statement of Special Educational Needs. He has 1:1 help in the classroom and at playtimes to keep him safe and to help his learning. Corey finds it hard to retain lots of information and needs it repeating many times.
We attend regular meetings with the school to set targets for Corey and review his progress.

5 days to go!

MPS affects every part of the body. Therefore Corey sees many specialists on an annual, 6 monthly or 3 monthly basis! Our current list of specialists involved looks like this:

Paediatrician (General Health), Neurosurgeon (Spine), Neurologist (Head), Audiologist (Ears), Ophthalmologist, Optometrist, Optician (all Eyes), Cardiologist (Heart), Metabolic Specialist (General MPS), Orthopaedic Surgeon (Bones), Endocrinologist (Hormones & Growth), Physiotherapist (Movement), Occupational Therapist (Mobility), Speech and Language Therapist and a Community Care Worker.

In the past 6 years we've also had the following on board: Gastroenterologist (Stomach Ulcers & Feeding), Plastics surgeon (Carpal Tunnel), Haematologist (Blood), Oncologist (Transplant / Chemo), Urologist (Bladder, Ulcers and Hypospadias), Dermatologist (Skin & Ulcers) and Rheumatologist (Ulcers / Behcet's). 

Please donate to The MPS Society - We are abseiling 80ft down Berry Head next week to raise funds and awareness of MPS.
www.justgiving.com/mpsabseil

9 days to go til our abseil

Please donate at www.justgiving.com/mpsabseil

I am counting down to our abseil by telling you about our life with MPS. 
Another of the symptoms of MPS is skeletal deformity.
Corey was born by emergency C Section as he was breech and my waters broke at 37 weeks. He was born with a perfectly 'normal' shaped head! When he was 5 months old and what seemed to happen, literally overnight, he developed ridges above his ears. (Star Trek fans - remember the ferengi?)
He had a skull xray (this was before a diagnosis of MPS) and the report said that it was due to his head being in my pelvis pre-natally! His head was never 'down' throughout the whole pregnancy.
If more doctors were aware of the signs and symptoms of MPS then treatment could be started sooner. This is why we raise awareness - because one day it WILL lead to a cure.

11 days to go til our abseil

MPS affects every part of a child's body. Before Corey was diagnosed some damage had already been done by the disease. His treatment only slows down the progression, it does not fix what was already affected or cure the disease.

MPS can cause thickened heart valves, leaky heart valves, thickened heart muscle and narrowed arteries. Sometimes heart valve replacement surgery is necessary.

Corey has an echocardiogram (ultrasound of the heart) every year by a cardiologist from Bristol who visits Torbay. This checks his heart and valves and monitors any changes. I'm extremely pleased to say that he has been stable with no leaks and his heart looks 'typical' for a child with MPS1! He is due to be seen in July this year.

12 days to go until abseil at Berry Head

We have now recruited 2 more friends Dave and Mark - Thank you!

MPS and sleep. I think we have it pretty good with Corey compared to some MPS families. 

He doesn't often sleep through the night and can wake up to 3-4 times. Sometimes just for comfort, sometimes with pain and sometimes inconsolably for no apparent reason. But he has and it is getting better and more frequent.
He won't go to sleep by himself and always wants to hold a hand while he nods off, I think this is from his hospital days when he was cuddled to sleep a lot and woken up a lot throughout the night.
I never let him cry or try to 'self soothe', it's just one of those things in our life - plus I know that it will last forever and sometimes one of my favourites times of the day is holding his hand and watching his eyes close and being close to him telling him that I love him and that he's so so special; always with tears in my eyes.

13 days to go

Please sponsor us to abseil 80ft at Berry Head in aid of the MPS Societywww.justgiving.com/mpsabseil 
I am counting down the days by giving you a glimpse of what our lives are like living with Coreythis condition.  
There is a lot going on in Corey's life but it's not all doom and gloom! He loves school and has lots of friends, he is a very sociable child! He is doing really well at school too and has help to ensure he is safe but also to ensure he understands what is required of him He processes information slowly and needs help to retain it and to focus his attention. He is improving in all areas and goes to a couple of after school clubs. He's a very happy boy and will give anything a try usually. He loves dancing and his favourite music is One Direction! He's a creative type and has always loved doing arts and crafts. He doesn't let anything stop him and is determined, independent, polite and every day I am in awe of him.

14 days to go

We are abseiling 80ft at Berry Head in Brixham wearing blue to raise awareness and funds for The MPS Society.
Today, 6 years ago, we received Corey's confirmed diagnosis of MPS1 - Hurler Syndrome.
What I remember most about this day was sobbing. Once we got home from the hospital and researched online what MPS1 meant for our son and how to pronounce it, I literally grieved. After that there were the phone calls, emails and visiting family and friends to explain the diagnosis to them. I think from that moment on we knew that we had to be and stay strong for Corey to stand any chance of getting through the treatment and surviving.
6 years on and he's still here doing great!  
Please donate at www.justgiving.com/mpsabseil or via text MPSA85 £1,£2,£3,£4,£5,£10 to 70070

16 and 15 days to go (too tired yesterday!)

  Kate Davies Shane Jeffery Phillip Butterfield - until our abseil at Berry Head, 80ft to raise money for The MPS Society and awareness of MPS diseases. Sponsor us at www.justgiving.com/mpsabseil
Anaesthetics have become a bit of a norm for us over the last 6 years. Corey was only 4 months old when he had his first 'general' to correct a hernia (another symptom of MPS). He has now had 25 general anaesthetics. 
All but 1 of these has been at Bristol Children's Hospital due to him being high risk and requiring an anaesthetist with MPS knowledge. 
MPS makes him high risk due to his cervical spine instability, short neck, narrowed airways, thick tongue and limited jaw / neck movement. He has only recently started to use a gas induction instead of a needle.
Before an anaesthetic Corey can't eat solid food for 6 hours or drink any water for 2 hours prior to admission.
He's absolutely brilliant at waiting and even walks down to theatre and climbs onto the bed, this week he's also been very nosey asking what everything is and what everyone is doing! Knowledge is power!

17 days to go!

Carpal Tunnel Syndrome (CTS), another symptom of MPS.
The carpal tunnel is a narrow passage in the wrist where the nerves run through to your hands. CTS is caused where the nerves are compressed. In MPS it is due to a build up of GAGs which the enzyme should break down, but that enzyme is what Corey was born without. Symptoms of CTS are pins and needles in the fingers and pain in the hands/wrist, usually worse at night.
Corey has had a nerve conduction studies done, where they pass an electric current down the finger and it shows on a computer that he had moderate CTS.
Treatment is surgery - where they make an incision in the wrist, scrape away whatever's there to make more room in the 'tunnel' for the nerve to move freely and stop the pain. 
No banging it, leaning on it or getting it wet for a couple of weeks then they'll remove the bandage and have Physio. 
Corey has now had both hands 'released' but even now if he falls and lands on his hands it hurts where his scar is on his right hand, particularly in the cold weather. This is when you'll see me with hand warmers for him!
As always you can donate at www.justgiving.com/mpsabseil Thank you to everyone for your generosity and willingness to learn about MPS

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