I am a scientist running a stat lab. Sounds a lot more glorified than it actually is! I always had an interest in molecular genetics and that sort of thing, so to find myself in this situation is rather ironic. At least I have the knowledge that I can understand a lot of where research is going.
I love to play basketball aswell, although Im struggling to come back from a knee operation I had a year ago. Oh and Im a gamer aswell with my current game being WOW!!
About my family:
We are a crazy family at the best of times. There are 6 of us in it - Anna and myself, then Sam, Alec and William, and our dog shadow.
Sam and Alec are from Anna's previous marriage and William is from the two of us.
Sam and Alec are unaffected while William has a non-sense mutation on exon 23. We found out purely by accident back when William was just about 1. Anna always had a gut feeling that things werent right and she pushed hard for a blood test which found he had DMD (was a lot more complicated but you know what I mean!)
William was a difficult baby and has never slept like other kids. He is very demanding, but is the most beautiful boy in the world! He has such a gentle nature and loooks after all his toys so that they dont get broken. He loves trains and has done for years nowand has a wooden train track aswell as all the Thomas DVD's, and we are currently working on building a big hornby train track. He loves swimming and has done since the moment we took him to a pool, so much so that he is driving us crazy asking us to take him swimming even though it is getting too cold to swim.
Alec is fiercly protective of his younger brother and wants to look after him all the time, while Sam takes great delight in teasing both his younger brothers mercilessly. It means there is a lot of wrestling going on and always a lot of noise. Its almost like the volume knob has been broken at the highest setting!
Name(s) of child(ren)/individual(s) with Duchenne:
Myostatin inhibition will lead to expansion of muscle stem cells (satellite cells, see cell transplantation). Due to the continuous muscle damage in Duchenne patients, the number of these muscle cells is reduced and myostatin inhibition may further deplete the pool of muscle stem cells (i.e. the point where no stem cells are left and muscles can no longer be repaired is reached earlier). However, it has not yet been proven that this is indeed the case.
Nice to meet you although I wish it were under different circumstances.
We are coming to QLD next week (and flying into Brissy) so if you want to come down to the Gold Coast for a BBQ you and your family are most welcome. We actually have another DMD family that is coming over on the 7th May, so if you are free, and would like to catch up please let me know and I will send you all the details :D
Go to www.towardsabrighterfuture.org.au for news of our national neuromuscular conference in Sydney, Feb 26-27, 2010. Draft program is online now, including concurrent breakout sessions. Share this update with affected persons and family for whom we have govt monies to offer some assistance to attend if needed.
This is for all Australians affected by DMD. The inaugural "The Tour Duchenne" will start in Sydney on March 7th at 7am and will end in Melbourne on March 16 at around 2.30pm.
The riders will start their journey at The Institute for Neuromuscular Research (INMR), based at The Children’s Hospital at Westmead, then make their way via Wollongong, Batemans Bay, down the picturesque south coast of New South Wales, through country Victoria and then onto Melbourne, where they will finish at the National Muscular Dystrophy Research Centre (NMDRC).
Our plan is for this to become a huge nationwide event, so we need your support for this initial ride. You can view all the details about the ride and its participants at www.tourduchenne.com.
Please ask everyone you know to support this fantastic cause. Our aim is to raise $1million to go towards finding a cure for this insideous disease. Whilst a cure may be too late for some boys, we can spare future generations from suffering from DMD.
For those people based in Sydney, there is a "Farewell" event at The Cargo Bar on Wednesday, March 4 2009. Admission is $100 and will include food and drink, silent auctions, celebrity host Tom Williams, and guest speakers. There will also be lucky door prizes, and all $100 tickets receive 5 entries into our guessing competition, with some AMAZING prizes. You can see a list of prizes on our website. To buy tickets to this event, please visit the site http://www.mda.org.au/events/tourD/launch.asp.
We need your support, and that of everyone you know. We HAVE to find a cure, we all want our little boys to grow up and be wonderful, happy and healthy adults. We can achieve this by starting here!
Also, if you (or anyone you know) needs to contact me at all, you can reach me on firstname.lastname@example.org or here on PPMD. Any questions at all, I will be able to answer.