Rhiannon Traigle's Comments

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At 11:02am on September 18, 2008, MicahsDaddy said…
R,

Riley's is probably out of frame. I checked the Utah database and of the 11 with del. of 45, all are out of frame.

Also, here is what the Predictor says:

The change in the DNA is c.6439-?_6614+?del
The change in the RNA is r.ex45del
The change in the Protein is p.Glu2147Arg2205AlafsX16
The Large Deletion starts in Intron 45 and ends in Intron 45.
The variant caused a frameshift of -2 nucleotide/s.
An OUT OF frame UGA (Opal) stop codon was predicted, in exon 46.
The Stop Codon is 48 nucleotides from the original variant.
It is predicted that skipping exon/s 44 or 46 would restore the reading frame of the gene.
At 7:51pm on September 17, 2008, MicahsDaddy said…
Welcome to Club 45! What a crappy statement, but if I were to ever open up a bar, I know what I will call it now.

For exon skipping, Riley will need either exon 44 or 46 skipped. Good news about this is that both of those are in the top 6 of the first set of exons that AVI and Prosensa have in their lists. AVI has drug that can skip any exon that is possible to be skipped, but according to Gerard Platenburg (Prosensa), they have just two antisense molecules in development for skipping exons 51 and 44. My assumption is Prosensa will be doing 44 after their 51 trials.

I am on the fence with exon skipping…if you haven’t noticed from the forum. For me, there’s no guarantee that anything will change in my son if exon skipping works and changes his disorder to BMD. There are many cases where BMD is a slower progression, but there are also many cases where the progression is just as fast as the worse case scenarios of DMD.

From conference, the vibe I got was that a drug cocktail including Utrophin (UTRN) upregulation, Losartan, and BBIC should be investigated and could happen fairly quickly. The DMD body already has UTRN in it, so there shouldn’t be any reason why their bodies would reject it, making it go to market quicker than other drugs. Losartan is already FDA apporoved, just need to see it work against fibrosis in humans instead of rats. BBIC is found in Haelan, which is a supplement available in the US. They are already, or are getting ready to, testing Haelan to see if there is enough BBI in there. I believe I heard them say they are looking at other avenues for BBI as well since Haelan has a nasty taste…I hear it tastes like poop.

That’s all I have for you. Feel free to ask more questions as they come up.

Hope all is well,

Christian
At 1:11am on September 17, 2008, Jill Keenan said…
Hey there Rhi! I am so slow at getting my thoughts on "paper"--I saw Lori's post and when I started my response, there were none and when I posted there were like 3!!!! I was interupted a few times but still!!=)
We suffered minimal damage-- a few trees down, lots of wind which made for a heck of a mess (surrounded by lots of trees), were only without power for a little over 24 hrs. but had use of a generator for about 10 of those (so no food lost--we ate ice cream first=)! We are extremely lucky and now need to go find ways to help in areas that weren't so lucky! Sat. afternoon we went to survery damage around the area and it was pretty extensive---we are in the NW part of town, so nothing like downtown or Galveston, etc. And nothing like Katrina! Well, I say that from my own perspective of what happened at my house; others have lost everything but overall the lives lost will not be near what it was in Katrina. We have fabulous neighbors who have helped each other get things mostly cleaned up and ready for "somebody" to take away all the debris! For the most part, aside from a few fences down and all the bags and piles of "stuff," you would never know that a hurricane had just come through--now the inside of my house is a different story=) My kids think it is party and play time since they don't have school until Monday!! Can't blame 'em! And the weather today was b-e-a-u-t-i-f-u-l!!!!! Perfect! I wish they could all be like that--cool, breezy and sunny!
I am so sorry to hear that you all had damage from him too! Y'all just can't catch a break, can ya? Thank goodness you are quitters--LAians are like the energizer bunny!
What did you hear from Riley's dr.????? I am anxious to know, so drop me a line when you can! Bye!
P.S. Great msg. to Lori by the way!
At 5:37am on September 12, 2008, Michelle LB said…
I see you've been able to get on the site here. Where are you, how are you,Ray, and the kids? I've been waiting to hear from you! Please get in touch!
At 1:41am on September 11, 2008, Kulwant Pannu said…
Thank you very much for your energetic response to the fundraising. I will definately be in touch through email. By the way the pics of your kids are beautiful.
At 6:56pm on September 9, 2008, Jill Keenan said…
Can u email me at jkeenan70@hotmail.com so I can have your email address? I have some good news I wanted to share in a more pirvate setting. Thx.
At 11:11pm on September 6, 2008, Lori Ware said…
Hey Rhi,

How are you ? I haven't heard frmo you since the storm. Are you home? Any power???
let us know.
Lori
At 10:33am on September 1, 2008, Kristi Powell said…
I am just checking on you and seeing if you are in safety from the storm! Prayers for LA are in full force and headed your way! Be safe and check in with everyone to make sure that you all are alright when you can!
At 9:16pm on August 24, 2008, celeste and carey said…
Hey! Hope you and yours are doing well. I was just checking in to see if Riley's DNA sequencing came in. Your's gotten back to school?All of mine are finally back as of last Monday. Whew!
At 10:35pm on August 23, 2008, Michelle LB said…
Oh, and it looks like Laplace might be a good middle ground. Anywhere hip and happening in Laplace?
At 10:20pm on August 23, 2008, Michelle LB said…
Hey girl, I put some new pics on my page. There is one with Riley in it from the party. I will put some more on there tomorrow if the weather is not too bad and I can get over to Ms Mary's house. My hip is feeling better today but not back to normal. I feel like an old lady! I am too young for this!!!!!! Get back with me soon.
At 3:34pm on August 22, 2008, Michelle LB said…
Hey thanks for coming to the party. I am so glad that Riley and Brogan got along so well. Can't wait till we can do it again. Jessica could not make it because of the weather. She wants for the three of us to maybe get together for lunch or dinner even without the fams she said. Well this morning I woke up and could barely stand up or walk. Turns out I have bursitis. Doc gave me a strong antiinflamatory and told me to soak in a hot bath. Aint that great. And Clayten works all weekend. Oh well, so much for getting some rest. Talk to you soon.
At 6:32am on August 13, 2008, Christine Piacentino said…
Hi Rhiannon,
Check out my blog again. I created one just for the medic alert information
At 8:52pm on August 12, 2008, Jill Keenan said…
Howdy, Rhiannon! It's been awhile--I haven't been on here as much lately. BUT I did see our crazy pics. that are rotating on the main page!! What in the heck we you thinking, putting those up for all to see--esp.the one where we are kicking or something?! Dr. Wong is a cutie, though, eh? So little but full of spunk! I think we should have a Dr. Wong day; ya know like Mother's Day, etc.? She has done so much to bring her comprehensive clinic to include such a variety of specialists--she deserves to be honored:)

Hope all is well in LA! Later! Jill

Any news yet on the mutation??
At 6:01pm on August 12, 2008, Julie Garcia said…
Hi!

Campaign for the Community is a program my work has so all employees can select a charity to donate money. It is an opportunity to introduce charities to fellow co-workers so they can elect your charity or another one and 100% of what they donate goes directly to the organization.

I will tell you more later. I am getting ready for a trip to take my son to see Brenda so most likely will not respond until Sunday.

I have a variation of PowerPoints I have put together and every year I change to add or modify.

More to follow later if you like.

On the run once again.

Take care,

Julie
At 4:37pm on August 12, 2008, Kimberly Damron said…
Hey Rhiannon,

My family keeps asking if I have gotten anymore info. from that girl in LA-meaning you. I was wondering how you learned about dr. Wong-did you meet her at the convention or just what others have said about her. I have seen many statements about her-all good. I wanted to email her or her staff and ask about the cost of her visit if your insurance does not cover out of state benefits. When do you want to meet for lunch? Talk to you soon, Kim
At 8:25am on August 12, 2008, Julie Garcia said…
Thanks! Sorry for the delay on everything and good luck with your project! I am sure it will go well.

I have put together a few different PowerPoints for presentations at my work to collect money for PPMD. I am a speaker for our Campaign for the Community which is like United Way except 100% of what we donate goes to the charity.

Take care,

Julie

Julie
At 10:50pm on August 11, 2008, Marla & Vaughn Tabor said…
Just wanted to say hi and I love you all.

MaMa
At 10:14pm on August 11, 2008, Michelle LB said…
Yes we are still on for Sat. I am looking forward to seeing all of you.
At 7:14pm on August 11, 2008, MicahsDaddy said…
Arcadian has an indoor pool. We stayed there when we went. was nice. a year ago, $74 per night. full fridge, oven, stove, microwave. 2 Queen bed's and couch bed.

it's located on the north end in sharonville, about a 15-20 minute drive to Children's.

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