Pelizeaus Merzbacher Disease - PMD

Today Sam & I have been to Bedford to attend a PMD support group. (Ben & Julian have travelled to Barnsley to watch Norwich City try and play football !)

The PMD group meeting was organised by Peter - this is the second meeting, unfortunately we couldn't make the first one. It took us almost 2 hours to get there but we had a good time chatting to families whose children are affected by PMD.

Sam hasn't got PMD, but it was thought he may have it a few years ago - he does have a severe lack of myelin in his brain, but all the genetic testing for PMD has come back negative. So he has some sort of leucodystrophy, but we don't know which one yet !

Leucodystrophy is a genetic defect (a problem in the genes) affecting the myelin, the protective covering around the nerves in the brain and spinal cord. The myelin acts like the covering around electrical wires. It helps the nerves work and send messages from the brain to the body at great speeds. When the covering around the nerves is damaged, the brain and nerves are not able to send the signals to the body very well. There are 10 different chemicals that make up the myelin. And there are many different types of leucodystrophies. Each kind is related to how only one of the chemicals in the myelin works.

Eggy Bread Wednesday

Inspired by Ben's interest in music.

He is constantly plugged into his ipod or has music blasting out of his room

A simple design but it only earned me 5½/10

Snow Tubing

Tonight Sam has gone off to Squirrels for respite this weekend - hope he enjoys himself.

Julian and Ben were invited to the local ski-slope in Norwich to do Snow-Tubing. I went along armed with my camera, but due to the speed they came down the slope and the lighting my photos where dreadful ! So I only have a few.

It was a cold evening but I think everyone enjoyed themselves. I was hoping Julian would chicken out so I could have a go, but it didn't happen !

Farewell To Jenny

Sam and I went to Thorpe Marriott Guides tonight to say goodbye to one of their leaders, Jenny, who was leaving to do a course in Cambridge which will mean she can become a minister. We all wish her the best of luck.

The girls all played lots of old fashioned games like musical statues and pass the parcel. They had a great time.

Home from hospital

Julian stayed at the hospital Friday & Saturday night and I relieved him during the day.

Saturday morning Sam had the drain removed from his back. The plan was to put a bag over the wound so any more blood/urine could drain into it, but the nurse thought a plaster would suffice. A couple of minutes later she replaced the plaster with a pad - this soaked through rather quickly. I mentioned the bag again, she said she would contact the SHO - she came back and said it would dry up in a couple of hours (in his last 2 ops it has taken about 24 hours and he comes home with the bag attached !) I humoured her and left it - soon the bed was soaked with urine/blood, this happened twice before she agreed to stick the bag on.

We could have come home Saturday evening but Sam decided to start weeing large clots of blood which didn't please the Doctors or nurses !

We finally escaped by late morning today.

A Mad Dash to Brownies & Guides

It was the first night back to Brownies and Guides today after the summer holidays. As Sam was still in hospital I had arranged for his respite carer Lynn to sit with him from 4.30 - 8pm, and Julian from 8pm till I got back - I couldn't really cancel both meetings on the first week.

Brownies was as usual very loud - how can 15 - 18 young girls make so much noise ???

Guides was much better - we had a discussion about what they wanted to do this term - and it would appear they quite like dressing up and having parties - this seemed to be their most popular request ! So we have arranged one party at the end of October and another on the last week before Christmas. Other activities included scrap-booking, glass painting, ice skating, Wide games and Christmas crafts.

We finish Guides at 8.45pm, and as I hadn't had much sleep last night I was so ready to go to bed (albeit at the hospital !) How come when you have to leave promptly you always get one parent who is late and hasn't got their mobile phone switched on ? He finally arrived at 9.15pm !!!!

Eggy Bread Wednesday

This was awarded 4/10 - I think it is a cat, can't be sure as Julian designed it and drawing was never his forte ! I was in hospital with Sam so I take no responsibility for this mess original design.

Sam's Operation

Sam had to have another operation today to remove yet more kidney stones from his right kidney. I so hope this is the last time they have to do this.

We arrived at 7.15am as requested, but didn't actually get called down to theatre till about 1.30pm. We finally arrived back on the ward at 5ish - so a long day.

The consultant show me what they removed this time - he said it looked like a large mass of something that had started to calcify, so he was sending it off to be analysed.

Sam had quite an unsettled night, whinging but not crying loudly which is something to be thankful of when you are trying to sleep in a hospital bay !

Wheelchair Services

Shock Horror - we only had to wait 2 months for an appointment to have Sam's wheelchair reviewed - Amazing !!

It took 2 of them almost 2 hours to take the seat apart and move all the bits to make it bigger for him, and put it back together again.

He only got the chair in January, but has had a big growth spurt since. I was hoping this chair would see him through for a few years but it is now almost at the it's limit for growing. So glad we didn't contribute to the cost this time !

Sam has an Ottobock Discovery base with large rear wheels and a Gill III seating system.

They have now added a harness because if he was tired or unwell he would sit in his chair like this !!


I was told by the OT that issued the chair that he would learn to sit up straight in it - Yeah Right !

Blood Donors Today

I completed my 28th blood donation today. It started off smoothly - then decided to slow down, several of the blood team commented that I needed to squeeze my hand harder, so I SQUEEZED harder & faster. After what seemed like an eternity they had collected enough of the red stuff.

So they deflated the blood pressure cuff, removed the needle and gave me a cotton ball to put over the hole and apply pressure to for a few minutes. And then every time they came to remove the cotton ball and apply a plaster I continued to bleed - this went on for about 15 minutes !!

It stopped in the end - but that must have been the longest time I have ever spent donating blood.

Eggy Bread Wednesday Returns ...

After the summer break Scouts has started again so it's time again for Eggy Bread Wednesdays

So todays master piece was inspired by our recent holiday and Ben's favourite past-time - texting. He has been trying to educate me in the art of text speak, but I think I prefer just to spell out the words properly.

I scored 8/10 not bad !

Tomatoes & Razor Clams

As we have been away for a week - you can guess what the greenhouse was full of again .....

TOMATOES - ARGHHHHHHHHHHHH

Out came the roasting tins again, halve all the tomatoes, crush some garlic, mix it with olive oil, drizzle over the toms, and then roast for about 45 mins. This is delicious on toast for lunch, but any left over is pushed through a sieve and frozen in smallish quantities for use in pasta sauces etc etc.


After eating some toms on toast we loaded up the van and set off to Hunstanton as it was low tide and we were after some clams.

When we arrived the lifeboat was just going out, but we missed as it took a while to get Sam out of the van and Julian and his mate Jeremy donned their wellies.

All ready, we set off with our buckets and pots of salt and headed for the low water line.

Clams are burrowing mollusks which are found just above the low tide mark, and can be harvested by hand by pouring salt into their burrows. This causes them to pop up from the sand, as they confuse the salt with the rising tide.

They were quite alot of people on the beach digging for white ragworm - some come from miles away because apparently it is a much sought after bait for anglers. They use garden forks to dig the sand up and collect the worms.

After about an hour the wind suddenly whipped up, the skies darkened and the tide started to come in with great speed - it started to rain - Sam was not too impressed.

But we battled on and weathered out the storm and the blue sky reappeared. After collecting enough clams for 4 people we headed back to the car park. Sam was much happier on the way back.

18 Years ...

It is our 18th Wedding anniversary today and Julian has forgotten to buy a card and I have forgotten to write the card I bought .......