Getting under the covers

One thing that the EU referendum has really highlighted is “detail”. I think we would all agree that the level of detail now reaching the public is showing that the simple Leave/Remain question is not going to be so easy in actual implementation.

I do have some news for you though. Lord Lee Bragg has been involved in secret negotiations with the EU regarding the European Weather Directive (EWD) and has negotiated the UK out of it, exchanging occasional sunny weather for cheaper cigarettes at duty-free. We can now look forward to more dreadful rainy weather. Thanks, Lord Lee!

Well what has happened in onein400 land this week?

Jean has this baby sewing machine, and it stopped working.

The needle was not pulling up the bobbin thread. I asked was she doing something when it stopped working, and Jean told me she had put a bit of pressure on the material and this grinding noise shattered the peace!

I always try and repair things, it’s a challenge, involving detail. Quickly dismantling and fiddling, it was clear the rotating drive that catches the thread on the downstroke was out of synch with the needle.

A bit of logic led me to the fact that the cogs must have jumped on the base drive. I removed them, and realigned. Bingo it was fixed. This little machine only cost £12! But it still feels good to fix it. This device sort of shows how one thing leads to another, ie the complex series of drives and wheels. This is rather what the human body is like, metabolic processes, interlinked, interdependent and in balance.

I closed off last week mentioning genetics and one test I decided to take.

Our genetic blueprint, once affected, can set the whole body out of balance which diet or lifestyle change may not be able to manipulate. We know diet can alter the overall body engine, adjusting fat, proteins and sugars can bring-about great health benefits. However, when a change happens in our genetic code this is highly unlikely to be repairable by simple diet. So if anyone tells you taking supplement X can help cure cancer, please take it with a pinch of salt(!) or at least question and research. So many food supplement claims have no deep scientific basis, just those sound bites.

I wrote a post on genetics way back in October. This week I’d thought I would say a bit more.

One of the most common questions I still get with MND is “what caused it?”

Currently about 10% of cases have genetic markers that make developing MND much more likely, but the other 90% we have no idea.

Before I go further, let’s just look at UK life expectancy over the last 200 years. Why Lee? Well it is crucial in understanding why genetics is having such an effect now more than ever.

If you were born in 1900 your life expectancy as a male was about 45! It is now 80.

It gives us one of the big influencing factors on complex disease, and that is time. The majority of cancer and neurological disease occurs after the age of about 50. We now regard this as young, but genetically and in evolutionary terms it’s old.

Our core law of life, Darwin’s survival of the fittest, naturally leads to selection of genes/traits for strength in youth/reproductive years. Any traits/genes that may cause issues in later life will not be selected against naturally as we have already typically reproduced! Such selection would have to be man-made, but that is a subject for another day!

In summary, we are beginning to understand that complex disease is a combination of genetic burden, time and environment.

Of all these “time” is probably the most interesting as it is the linking factor between genetics and the environment. We have solid evidence now to show that certain genetic patterns mean that some people are not only more susceptible to changes over time, but also potentially to environment factors. Person A may be susceptible to X whilst person B not.

Without going into any detailed statistical and mathematical explanation, it is now thought likely that the environmental factors are probably “accumulations”, rather than single event stimuli.

The emerging belief, not proven yet, is that probably much more MND is genetically related in some form.

Back to our current life expectancy. This explains why complex disease is both more prevalent now. However, we are not seeing an epidemic, so there appears to be no “major obvious environmental” cause. Lots of studies show that there may be risk factors. For example, there have been numerous studies that show increased incidence in the military. But the studies are controversial. We have no idea why being in the military causes this perceived increased risk. There are so many aspects, such as military personnel are typically more fit than the general population and are probably not killed off by the biggest killer, heart disease, as much etc. Smoking is more common in the military, and we know smoking can cause genetic changes.

The bottom line with searching for environmental factors is that we need detailed, lifetime information of population exposures. This is so incredibly complicated, and will in my view be one of the most exciting areas of future medicine when we are able to medically record every second of our lives through monitoring devices. However, I suspect we will solve MND from genetic studies and gene therapy, moving that metaphorical cog back into the right place.

Oh back to the genetic test I took. Why did I take the test?

This is a tricky one, and typically you need to have genetic counselling before doing it, as the implications to family could be huge. I decided to have the test for the most common genetic cause, a mutation in c9orf72.

It is quite widely accepted that a therapy for MND is probably going to emerge from genetic studies, and therefore having as much understanding of my disease structure could be vital. There are currently gene therapy disease slowing projects underway and the first will be focused on genes we know are highly implicated.

So it was simply knowing as much as possible about my disease variant. My result was negative.

I know I sound like a stuck record when it comes to science, but I do stray to the far side now and then to try a “miracle cure”. This week it was this, turmeric.

Just a bit of advice for manufacturers. If we ever get a miracle cure, please package it in chocolate! All these miracle supplements taste kinda of like straw, soaked in rain water and sieved through an old pair of underpants!

As I am still walking, I can mow the lawn. Lord Lee Bragg sold me this dual purpose mower and walking aid (EU unapproved).

He said it can be used in public. He was right. It has been really helpful on the pavements, with the petrol engine pulling me along. Aside the one nasty cat incident, it has been great. To be fair to Lord Lee, his handy user guide provides clear instructions on getting out of such situations; backward, forward, backward, forward soon cleared the mechanism!

A number of you have asked about Judge Bragg (the guy from future with the special vacuum gun). Well I saw him Thursday just after Boris Johnson (my overseas reader please look him up on the web) had acknowledged that he wasn’t the right person to stand for our PM. He was cleaning out the gun when I saw him, and I noticed a load of messy blonde hair! Well done Judge Bragg, you saved us from a bungling future. Where is Judge Bragg now…….?