Tuesday, 15 December 2009

Filling the gaps, number 1. The doctors

The doctors

Randi (pronounced Rawndy) Hagerman is a paediatric neurologist and heads up the MIND Institute at the University of California. MIND is America's best and one of the few clinics for evaluation, diagnosis and treatment of a wide spectrum of neurodevelopment disorders including Autism, Asperger's and Fragile X, which all share some common traits (you can tell I cut and paste a bit of that last sentence can't you, but it is true).

Now finding treatments, even cures of a sort, for Autism, Asperger's and Fragile X are never going to lead us to a cure for baldness or to inadvertently turn into a really efficient way of 'curing' women's wrinkles, it's unlikely to unlock the secrets of impotency, or become a cure for the common cold or cure cancer, so finding research funds for clinical and lab based research is always going to be hard in a market that is fiercely competitive for things that affect a lot of people. Any Fragile X treatments will be what are known as orphan drugs. Drugs that do not have a big enough potential market to attract the big pharma boys to develop it and must therefore fight for private funding, government funding or money from the more altruistic research funds out there like the Wellcome Trusts. Randi, Dr. Hagerman, has testified to the U.S. Congress on several occasions that "Fragile X is a 'research portal' for other brain disorders. It is the leading-edge candidate for a breakthrough in understanding many other diseases, especially unlocking autism". But still, the quest for a cure for small breasts or heartburn will probably receive more a thousand times more money.

But I digress.

We went to see Randi, and her husband Paul, a molecular biochemist whom she corralled into helping her with the lab based research into finding treatments and causes of Fragile X.

Both of them are truly excellent, lovely, funny and engaging people. We took Tom to see Randi, it had been a typically madcap day careening about in the RVs and me generally being shouted at for slowing everyone down and not setting up shots properly -  as was typical - but once we were inside her office, with Tom holding the boom mike, because by now we worked out the guy wanted to feel part of the team, and he needed to be working with us. This realisation marked a critical shift in the whole Mission, and saw Tom's far deeper immersion in what we were doing.

I sat talking to Randi who explained many things about Fragile X I never knew, including the fact that Tom's sensory perception is totally different to our own, he experiences sounds, touch, smells, tastes and sight in a way which is amplified and disordered. This would explain why he was being so challenged by the prospect of actually getting into a venue to see Metallica. She explained many things and throughout Tom nodded and concurred with what she was saying, until he got bored. 

Randi took a long time to explain things to us, and I can't wait to go through the rushes and redigest everything she said. She talked a lot of how carriers of the mutated gene can experience a lot of depression and other symptoms. She reckons many more people are affected by Fragile X than is currently known. At the end of it I went and got tested; I think it's about time I found out if I am a carrier or not. If I am, it might explain why I get so bloody miserable sometimes. It might explain why certain among my family can be a bit reclusive in old age, another F-X trait. 

Anyway, am sure I have written on this before.

Next day we went to see Paul, who was such a San Francisco type of Professor, I just loved him, shaggy grey hair, handsome face, wearing track pants and bouncy trainers. Insisted we call him Paul. Paul explained a lot of sciencey things about F-X on a molecular level, and explained how F-X is really only prevalent in apes and humans and that it was in our development to the higher species that the F-X mutation happened, which means, in style magazine terms, that it has greater brand heritage than even Louis Vuitton and goes back an awfully long way. It does not change in frequency among ethnicities, and there are probably millions of F-X cases that go undiagnosed in all its different forms. Indeed, relatives of ours, here in the west, have only just been diagnosed with F-X related disorders. This is an old and mysterious thing we're looking at here.

He was passionate and able to speak to me like the idiot I am, once we'd wrapped up he came down to the van where Tom was spending some time on his tod, eating some leftover pasta heated up in the RV's microwave while we were still on the move. (I got quite good at making food on the move but occasionally had visions of stabbing myself in the eye with a buttery knife or impaling myself on a broken jar of sandwich pickle) while Will and I filmed Paul. Tom, as ever, was utterly charming and smiley to meet him. 

We were late for the meeting because our poo pipes as the RV's waste system were now known, were behaving in a menacingly smelly way and we had to dump them on a bit of wasteland nearby.

Later on that night as we headed towards Anaheim, we had more menacing smells, and stopped just off the freeway to release the pipes once again. Poor Tom had had another chaotic day, another day quite unlike the one we'd promised he's have to Tom's major care givers. In an effort to bring a little levity to the chaos, I stood at the side of the road with Tom while Will did a very fast three point turn while the poo pipes discharged themselves across the road. Look, the RV is having a wee I said to Tom, and we looked at the flailing pipe dangling beneath the monster truck you sleep on. Both of us cracked up, and continued to chuckle as a harried Will pulled up beside us. At last, some laughs. They had been thin on the ground on the trip, frankly.

I wish we'd filmed that bit. 

After that we had a zero solids rule on the bus lav and things, aside from our sphincters, relaxed a bit. 

1 comment:

rocknrolldamnation said...

I've inadvertently stumbled across this, email me at bigunitblues@googlemail.com and I'll hook you up with Metallica's camp...