Christmas

I’ve always loved Christmas. A time to enjoy family along with good food, games and laughter, and of course, presents – giving and receiving. This year, it was particularly appreciated. We certainly needed that break from the weekly grind of treatments and bad news. We shared Christmas with my sister again (which meant that we […]

Holiday

After all the emotion last week, I thought I’d come through ok. Then on Monday while shopping for a picture frame, I had a phone call from the Healthcare at Home manager. She said that given Pudding’s reaction last time, she wasn’t happy with his next ERT being done at home. Whilst I understood her […]

Still here

It’s been almost a week since I wrote on here. Not that there hasn’t been things to update, but more that I was at a loss about how to write them. Having felt so much happier lately, I didn’t want to ‘spoil it’ by writing when I was in the middle of a downer. Which […]

Food

So today it’s the second part of the screening process for Pudding to get onto this clinical trial. At about 6pm this evening he will have an MRI scan and lumbar puncture under general anaesthetic. (Hopefully they’ll also fit in a little look at his eyes which is one of the general baseline health checks […]

Results

He did it! He scraped through with a score of 56 (needed 55). I am so relieved. The longer we had to wait, the more I was certain that I wanted him to get in. Yes, it means that we may have lots more difficult stuff to face over the next few months, but it […]

No news

Still no news, but we’ll hopefully get the results of his DQ tomorrow. Yesterday, we had the consent discussion in the morning and signed the 30 page document. Then after Pudding had his lunch they tried to get some bloods from his port, but were unsuccessful two times running. We were in a little treatment […]

Clinical trial

It’s a big day tomorrow – screening starts to see whether Pudding is eligible for the clinical trial. So what’s it all about? Let’s see if I can explain it clearly; it’s difficult sometimes for me to use layman’s terms seeing as I understand much of the medical speak already. The manufactured enzyme that he […]

Busy, busy!

Last weekend we travelled to Manchester for a lunch and panto arranged by the MPS Society. As well as other MPS and related diseases we got to meet two families with young boys on the MPS II intrathecal trial. This was so good – Facebook contact has been great and so useful at times, but […]

Snapshots

I find it so hard to describe what Pudding is really like. Sometimes I think of it like having a young toddler in the house, only more so. It can be difficult to get anything done when he’s around and he is very good at hitting his brother and throwing things, but it’s not all […]