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!

Risk vs Reward.... Hiking the Napali Coast

Coming soon......

Kalalau Trail - Na Pali Coast

With Johnny on the Napali Coast

Rapping on Life this Tuesday Morning

Sometimes when I am feeling down I try and imagine how my life would be without FSH. Honestly I never get very far, because I can't. Having FSH has shaped my experiences and ultimately made me who I am today. Given the chance to go back in time I truly would not change a single thing. The path I have set out on has allowed me to come across the most incredible people and experiences. I have grown more than I ever thought possible and am always eager for an opportunity to grow and learn even more. The down and out feeling never lasts long.


Not only does this realization turn an inkling of a negative feeling around, it also serves as a reminder to live each day to it's fullest. A flashing green light with bells and sirens screaming at you to grasp every opportunity that comes your way. To challenge yourself physically, mentally, and emotionally and to "live" YOUR life. Having FSH has given me much more than it has taken away. It's a bold statement, I know. I didn't come to this belief easily either. Sure it has robbed me of valuable muscle mass that aids me in having an active lifestyle. But it doesn't rob me of any cognitive functioning, and instead has given me a huge gift in return. A unique insight on living. Life it to short to waste my muscle slaving away at a nine to five. I would much rather be wasting my muscle doing things that I want to do and experience life. No regrets.

A few months ago I was lucky to meet someone who shares the same views, and was again reminded of the wonderful path FSH has set me on. Not saying that I am still not hoping for a cure yesterday, but at the same time thankful that I am living and not just going through the motions.


With that being said I couldn't be more ecstatic about the $6.3 million dollar grant just awarded for FSH research. http://blog.fshfriends.org/


On a day to day basis I am always working to bring awareness to our form of muscular dystrophy. It is something that is very important to me and something that I hope to do more of in the future. Next week I am hoping to get the opportunity to do so and to give a larger voice to this "invisible" disease.

And on a final note, I was having breakfast yesterday morning with that wonderfully amazing person that came into my life a few months ago and realized that it was time to break new ground in a totally different area. I love my bicycle and will always be obsessed with it, but maybe adventure racing......? We will see what the future holds, but I'll only get there by living up today.

FIRST RACE OF THE SEASON

Last weekend Andy and I raced our first duathlon in Rochester, which is about 30 minutes south of Oly. It's tiny, so I thought I would add it's location. It wasn't till 2pm so the torrential downpour had let up by then which was rad. And I'm not normally moving so well in the morning so I'm all about the later start time. Andy did his first mile in like 4:40 so I was the first person out on the bike. I think I finished in 11.5 miles in 38 minutes. They haven't put the results up yet (hence the small race). Which is ok for me this early in the season. I kept getting passed by these dudes with huge legs. Someday I'll have huge legs! I think the funniest part of the day was the one guy totally outfitted with his aero helmet and full disk in the rear. It was a pretty informal race and he just looked like he was tyring way to hard. Well to each their own I guess! We are going to do another next month. Which should be as fun as our mud filled Saturday! My fitness is continuing to improve after a slow start to the season. More to come later!

FSH 2010 Fundraising Auction Video

By Elliot Bay Productions

Raising and Racing

So tomorrow night is FiSHing for a Cure 2010 Caribbean Nights Gala. The goal is to raise money for FSH research and bring awareness to the disease. I agreed to be in the film this year. My message is pretty straight forward: The thing I love to do most (athletics) directly makes my condition worse. The one thing that keeps my soul alive, and if given the chance I would devote everything to, progress my weakness. And to hit it home... I am missing the part of my DNA that rebuilds muscle and makes me stronger and faster. What a contradiction.

To be honest I'm really not looking forward to seeing myself on a big screen in front of a ballroom of people. Filming was painless and it was fun working with the guys from Elliott Bay Productions. I'm excited to see how they put everyone's stories together. And again kind of anxious about my message coming across.....

On the athletic front my friend Andy and I are doing a duathlon in a few weeks. It's a sprint (1 mi run/11.5 mi bike/ 1 mi run).... needless to say Andy's doing the run. He is a state record breaker and putting the pressure on! We'll win hands down. : ) My legs are feeling really good and I'm super excited.

1 state record breaker + 1 cripple kid = a competitive age grouper......?

FSHD in the New Year

I am not one for new years resolutions. I don't think you have to have a new number on the calendar to change your mindset or better yourself in any way. I believe setting goals, keeping a positive outlook, and continuing to grow as a person should happen year round. On the contrary I am excited for 2010 as something just feels different. Maybe it's all the news going on in the FSH world and the support of so many people pushing forward to make a change. All of these little steps are starting to add up and become larger movements. Just as Facioscapulohumeral muscular dystrophy has been recognized as the most prevalent form of muscular dystrophy our voice is growing. I feel like it's only going to get louder in 2010.

Fishing for a Cure 2010 Caribbean Nights Gala is coming up on January 30th. It's always refreshing to meet up with a large group of people who know what you are dealing with. The nature of this disease varies so greatly, and although it doesn't look like I have FSH (except to those who know what to look for) my shoulders and hands are shaking under gravity as I lift my hands to type this. Giving a voice and bringing awareness to this "invisible" disease is a great way to start 2010.

The increased difficulty and and pain of getting back to training this season is an issue I have had to dig deep into in order to come out with my glass half full. I will never be a pro athlete, but hey I can still ride a bicycle better than I can walk! : ) But in all seriousness I wanted to thank all the people who work so hard to put this event together. It means so much to me and so many others. Please help support FSH research in 2010 and lets be obnoxiously loud this year!