T -3. How did we get here?

Saffy is currently sleeping soundly after a good day. Having had her sleep interrupted by two-hourly nappy changes and by sickness last night, she was pretty tired and was actually asking to go to sleep by about 7pm. If you know her well, you’ll understand how unusual this is!

So I thought, as I’m now getting addicted to this diary-therapy and as there have been several people who have actually said they are reading this, that I’d just take a minute to cover why we are here and what happens next. Some people seeing this know plenty more about this subject than I do – please feel free to correct me. If anyone wants to learn more, visit www.mannosidosis.org

Saffy has a disease called alpha mannosidosis. It is not very frequent. To put it mildly. You hear phrases bandied around such as ‘ultra-orphan’ to describe the rarity of conditions like this. I read in a booklet for a rare cancer that affects around 1 in 6000 kids that a GP is likely to encounter only one case in his working life. Alpha mannosidosis is reckoned to affect about 1 in 1,000,000 kids, although no one really knows for sure. It is one of a group of conditions called storage diseases. Storage diseases are genetic in origin. Both parents must be carriers and even then there is a 1 in 4 chance that any child will have the disease.

The term storage disease relates to the fact that, because of a missing enzyme, the body cannot carry out a basic function that occurs within all of its cells. Part of the cell (the lysosome) acts as a kind of mini stomach, breaking down the basic building blocks of food and the products of your metabolism into parts small enough to become the basic building blocks of the body. This function is carried out in pretty much every cell, wherever it is. In alpha mannosidosis, an enzyme called, appropriately enough, alpha mannosidase, is not produced. The basic sugar (very basic form – don’t think Tate & Lyle) that it works to break down (along with many other enzymes) is an oligosaccharide (can you believe that word got through the spell check? Impressive). Because the oligosaccharide is not broken down, it’s not small enough to leave the cell and has to stay – or be stored – there. Hence storage disease.

This happens all over the body, from brain to liver to bones to skin and basically everywhere else you can think of, and slowly, over time disrupts the function of that organ. Sufferers are affected on a broad spectrum of severity – Saff is towards the least affected end. Whilst all diagnosed kids with alpha mannosidosis will get treatment for all of their diverse problems, the disease has no cure. The only effective therapy is the bone marrow transplant. Saff is lucky enough to be relatively unaffected at the moment – partly because she is a mild case and partly because the man at the top of our Xmas card list, Professor Surtees at GOSH, made an early diagnosis (there were a lot of other important people in getting us to him in the first place and since).

What the BMT will do (if the procedure goes according to plan) is replace Saff’s deficient marrow with donor marrow that can produce alpha mannosidase. This will stop further storage and will even start to clear some of what has already accumulated. The effects are quite quick to show in the body. In the brain, the new enzyme has to work its way across the ‘blood-brain barrier’ – a defensive mechanism there for the brain’s own protection and this can take up to 2 years, but it will get there eventually.

So, (almost there now) what will this mean for little Saff?

The main points should be (and no one offers any guarantees on this):

Brain – by 2 years post-BMT, any deterioration will be arrested (fingers crossed there’s not much between now and then)
Hearing – not effective, she’ll always need hearing aids. The plus side is her aids are fantastic and she gets on with them really well
Enlarged liver – should actually shrink back to normal size
Spine – the current curvature remains but will be treatable as a normal orthopaedic issue
Muscles, heart, eyes, throat, immune system – touch wood, none of these should deteriorate
Bones and joints. These will probably deteriorate a bit faster than in an unaffected person, but nothing like as fast as they would without the BMT

Sonja will no doubt tell me I’ve made a glaring omission, but I hope you understand now why we felt we had to take this risk for Saff. Hopefully she’ll understand herself one day.

I hope that makes a bit of sense.

More from Planet Saffron in a day or two.

Martin