My Relationship with Shopping

Just about every time my Johnny and I are perusing a store, I get the question, “you really don’t like shopping do you…?”  It normally comes up, when I start acting like a 5 year old who is tired and hungry, and ready to go home 30 minutes ago.  The truth is I really like shopping.  It’s something my Mom and I used to do a lot, but as my FSH has progressed it has become something that is no longer “fun” for me.

I have talked about risk vs reward before.   Example:  Something like hiking the Na Pali Coast is potentially very risky in the fact that the strenuous hike will further deteriorate my condition.  BUT…. The reward is HUGE.  Therefore in my mind it is totally worth it.  Standing in a florescent lit room for 2 hours listing to techno or oldies….  not so worth it.  It’s really hard to explain, but just standing for long periods of time, tends to be the hardest thing on my body.

For now I will enjoy perusing stores from the comfort of my computer, allowing me energy to do other things….. like riding.  As well as riding….. and then more riding.  Maybe further on down the road when I require 4 wheels to get around easily I will take to the neon lights again.  For now, my pocket book thanks me.

2011 Update

Seems as though I tend to start my blog up again around the annual Friends of FSH, Fishing for a Cure annual auction.  1.  Because I start getting excited for the auction.  Especially this year, since there have been so many huge and exciting breakthroughs in research.  2.  Because it’s that time of year again that everyone is gearing up training for this years’ season.  With the Tour Down Under wrapped up today, the countdown for the Tour of California begins.

So where does that leave me?  Well, I’m in the gym working on a lot of functional training and trying to really dial in my nutrition to maximize muscle gain.  I didn’t apply for a CAF grant this year.  Mainly because my body is changing so rapidly, I wasn’t able to commit to doing anything specific this year.  The plan is to take it easy, get strong, dial the nutrition and see what happens.  Last year I put way to many expectations on myself and it backfired.  Well, not really.  Backfired as far as any racing goes.  I got to do some pretty amazing life changing things that weren’t race specific.  So although I wasn't training regularly, I was hiking the Napali Coast and doing a bunch of other kick ass things.

I’m vicariously living through Johnny’s season : )  He plans on doing Bosie 70.3 again and a handful of other races.  He’s got his races dialed into TrainingPeaks and I’m enjoying using my trainer’s knowledge here and there when he asks. 

On the agenda this week….. give our bikes a bath!  And mine needs to go to the shop for a little TLC.

Thursday, August 19th, a HUGE day for those with FSH!

Follow up on ACE-031 and finding the cause of FSH!

A good friend of mine alerted me this morning to the fact that Acceleron Pharma has received FDA orphan designation for ACE-031!  Orphan designation is described here.  And then started the flood of awesome e-mails regarding the advancements in FSH research.  Said to be the biggest breakthrough in FSH in the last 20 years......

On Thursday, August 19th it has been published in the Journal of "Science," that scientists have figured out how the genetic flaw they have found to cause FSH actually brings about the disease.  It has to do with DUX4 (on the long arm of chromosome 4) being overly active (or expressed) in people with FSH.  DUX4 makes protein more harmful to muscle cells, said to be the cause of our deteriorated muscles.

DUX4 was talked about at the FSH Society conference in Las Vegas.  I knew that some great information and knowledge were being obtained by the researchers and they were moving forward, but really didn't fit it into the larger picture till today.  Reading the flood of articles in an A + B = C format verses deciphering what the researchers were saying, seemed a little easier for my little brain to handle.  They did say this article was coming out and I will check all of my notes from the conference when I get home to try and help shed a little more insight into the development.

What is very exciting on top of all the research news, is the fact that the information can be found in The New York Times, with an article titled "Reanimated 'junk' DNA Is Found to cause Disease."  Referring back to our meeting with Senator Murray's health advisor, it was blatantly said that those with the loudest voice receive the most funding.  The education of FSH and having the public aware of the fact that this disease actually exists and how prevalent it is, is a huge step in the right direction.

Speaking of the public becoming aware of FSH.... check out this article in Vanity Fair that popped up today (rather comical), "Zombie DNA Can Cause Muscular Dystrophy."  Being frightened by "Zombie DNA" might wake up the public I suppose!

One thing is for sure, now scientists will be able to focus drug development and have a clear direction in being able to find a cure for FSH.


Other articles on the advances in FSH research found today:

Local Press Release on Eurekalert.org, "International Research Team Closes in on Cause of Common Form of Muscular Dystrophy"  --- A few shout outs in this one!

e! Science News Article, "Scientists Pinpoint Earliest Steps of Common Form of Muscular Dystrophy"

Bloomberg.com, "Muscular Dystrophy Gene Riddle Cracked, May Lead to Treatments, Study Says"

Hope for a Therapeutic Drug to Treat MD

Dr. Kathryn Wagner was one of the speakers who attended the FSH Society International Patient and Researcher Meeting in Las Vegas.  (Which there will be more information on to come) She believes that ACE-031, made by Acceleron Pharma Inc., will be effective in FSHD.

ACE-031 is a drug being developed to increase muscle mass and strength to treat neuromuscular diseases.

From the Accelron website:
ACE-031 is an investigational protein therapeutic that builds muscle and increases strength by inhibiting molecules that bind to and signal through a cell surface receptor called Activin Receptor Type IIB (ActRIIB). ACE-031 is a completely human, recombinant fusion protein that is produced by joining a portion of the human ActRIIB receptor to a portion of a human antibody. This creates a freely circulating, decoy version of ActRIIB which removes proteins, such as GDF-8 (myostatin) and other related molecules that limit the growth and strength of muscle.

Dr. Wagner brought to light how little attention FSH is receiving.  Opening her talk with the statement that FSH and ALS have the same prevalence in the population.  The difference between the two is that at this time there are only 3 studies and no drug trials that  are going on for FSH, but there are 64 studies being done on ALS...... 21 of which are with novel drugs (not FDA approved).

Acceleron's press release:
Acceleron Pharma Receives FDA Fast Track Designation for ACE-031 for the Treatment of Duchenne Muscular Dystrophy

A start in the right direction.


Thanks to the FSH Society for the great speakers.

With Amanda at the FSH Society International Patient and Researcher Meeting

Weekend of Firsts

Crazy wind while checking the bikes in Moses Lake

My lovely boyfriend had his wonderfully even 32^nd Birthday on Sunday July 25^th.  Thursday we headed to his parents’ in Spokane with Mountain Bikes in tow for his Birthday bash weekend. 

We arrived that evening at 6pm, went to teriyaki, and watched the rerun of the Tour from that morning.

It was a warm one!  The weekend weather forecast was for the upper 90's, and luckily the wind was supposed to die down.  We were scheduled to take a hot air balloon ride on Sunday.

Friday we woke up early... really early.  I hadn't slept really at all that night and was in a fair amount of pain.  Nothing in particular, just one of those nights that everything hurts and I just cant get comfortable.  I always feel so bad tossing and turning at night, because even though Johnny says it doesn't bother him, I know it disrupts his sleep as well.

Having a blast with my best friend!

One of 10 tunnels

We headed out to the start of the Hiawatha Trail at 7:30am, stopping for coffee and breakfast along the way.  The trail is 15 miles long that goes through 10 tunnels.  One of which was almost 2 miles long and goes under the Montana/Idaho State line (A first!  Setting foot in Montana!)   It also goes over 7 really high railroad trestles.  It was a slight downhill grade the entire way, and there was a shuttle at the bottom to take us back up to our car.  Under, over, and through a state line.       

One of the 7 railroad trestles

   Saturday we slept in and Johnny took me on a motorcycle ride!  (Another first!)  I was a little nervous at first, but trusted Johnny completely.  Plus, I though if we crashed at 40mph, it would be just like the guys crashing on their bicycles on the Tour.  A little road rash, maybe a broken collar bone.... nothing big.  But of course we arrived home unscathed and I had a great time.

Sunday we went to Lake Coeur d'Alene (a first) and enjoyed the wonderfully hot sunny weather.  And that evening was the much anticipated hot air balloon ride.

Johnny and I

While looking for my sunglasses after our crash landing!

Up, up, and away!

What I realized from this weekend was that there are still plenty of fun exciting things to do out there that don't involve so much body power.  You can still get that feeling of a small kine adrenaline rush of doing something new and unknown without killing yourself physically.  The weekend left me happy and refreshed with life.  Thanks Johnny, for your Birthday bash weekend!

Andy Ran and Won for FSH

On the 28^th of July my friend Andy ran the 2010 Invest in Others 5K in Boston.  And of course the speedy dude won 1^st place!  $1500 for FSH research!  Thanks Andy!  You Rock!  Your celebratory BBQ coming soon…

That's one huge check!

Read more at http://www.prnewswire.com/news-releases/invest-in-others-charitable-foundation-donates-30000-to-pine-street-inn-through-second-annual-5k-runwalk-in-boston-99470529.html

I will be attending the Biennial FSHD International Patient and Researcher Network Meeting in Las Vegas this weekend with Terry Colella from Friends of FSH.  I am excited to get to talk to others with FSH and find out exactly what is going on out there in terms of research.  Check back soon as I will be taking detailed notes with the attempt to relay any information to those who were unable to attend the conference.  

Also, Andy is racing a 5K tomorrow in Boston in hopes of placing in the top 3 finishers.  The top 3 will receive money to donate to their favorite charity and Andy has chosen Friends of FSH.  Good luck Andy!  Results posted soon!