Yes, same here, I hate to put Robert on these things...but we do not have a lot of choice here... Talk to Flanigan, if they start that trial soon then Alex can participate...you need to be careful though, what if other trials (utrophin, myostatin start soon enough) you would want Alex in one of those trials instead. As always, a very difficult decision to make…
You might want to ask Flanigan about a possible Losartan vs Lisinopril trial planed at Columbus Childrens. I know that is mostly to see effect on the heart but better than nothing... Last September I was told that they plan to start this year, but I did not ask more details.
I know that the Johns Hopkins guys are also planning a Losartan trial. Ask Pat Furlong. She has details.
P.S. Many parents already give it to their boys, Tina Graziano Carson started late last year. She is on FB as well.
I'm sorry Paul for being a bad organizer. I must practice more or delegate, because I was the only person with 'record' access but got kicked out of the room for a few seconds about 4 times (you go back in or you log back in very quickly - must have something to do with my phone line) anyway it stopped the recording and my ability to save the transcript each time. Here is a shot of some of the questions asked but not the answers. Annemieka is going to do another chat for us later in the year about 'other approaches' and I will advertise that & would like some feedback about a better time for your region too. It was a very good test since most people were happy with the quality of the room overall but we could have used it more efficiently and I will try to write a longer tutorial about it. I have been busy lately with our next conference stuff in February and I suppose I can always use the 'we are volunteers in DF (formerly PPA)' excuse but that's the truth of it. If you have a question for Annemieka she gave her email and it is there on her webpage for laypersons in Leiden so I'm sure she will answer. Find it here: http://www.humgen.nl/lab-aartsma-rus/ My apologies again for lack of ability to archive it this time.
Haven't had time to "browse" on the website for ages, and today I decided to ignore the dishes and take some personal time.....
Going back through my posts (as it appears I really managed to rattle someones cage) I noticed that I replied to one of your posts and called you Cliff....... I can't believe I committed such a faux pas and very embarrassed....... to make ammends I thought I would send you a new lawyer joke:
A barber gave a haircut to a priest one day. The priest tried to pay for the haircut, but the barber refused, saying, "you do God’s work." The next morning the barber found a dozen bibles at the door to his shop.
A policeman came to the barber for a haircut, and again the barber refused payment, saying, "you protect the public." The next morning the barber found a dozen doughnuts at the door to his shop.
A lawyer came to the barber for a haircut, and again the barber refused payment, saying, "you serve the justice system." The next morning the barber found a dozen lawyers waiting for a free haircut.
LOL Hugs to you, Cheryl and your two beautiful boys,
"Alexander would need to skip his damaged exon 44 and exon 45"
yes, that is correct. with deletion of 44, then that one and 45 would be skipped. so, the frame would read "...41,42,43,46,47,48...".
from what i recall, 45 is one of the top 6 that will be tested...i just don't know the order that the top 6 will be tested.
(sorry for the typo in the previous message: "...that skipping either 43 or 44 would work." Should have said "...that skipping either 43 or 45 would work.")
Anyway, I am out of touch with all the research and stuff now. My job moved from Poway (30 miles from my house) to Santa Ana (60 miles from my house). Because of this move, my team of 4 is now down to just me. Basically, I am doing the job of 4 people now and haven't had time to follow research, message boards, etc. And honestly, it has been a great relief.
Just realised it is a year since Alexander was diagnosed.......
For us it will be six years in February, but I can still remember that first anniversary coming around.........and realising that not only had we survived the first year of living with this insidious disease, but we had learnt so much and grown so much stronger as a family.
To see how you have helped families, and gained so much knowledge in such a short period of time is truly inspirational. I'm sure many families have had their lives changed because you and Cheryl are going through this journey with them.
So on this anniversary, (which is a bitter sweet one) know our thoughts are with you and the family, and that if there is ever anything that we can do from way down under just say the word and it will be done.
PS. What does it mean if your lawyer has saliva coming out of both sides of his mouth?
Thank you and Cheryl for opening up your beautiful home to all of us yesterday. You have a wonderful family and both Alex and Max are very special boys. As heartbreaking as this is for each of our families, we are truly grateful to be in contact with others that are going through this. It is imperative that we are our children's advocates and together as a team, I hope that we can all work towards making the changes necessary here in Southern Cali. so that all of our boys will get the comprehensive care they deserve.
Paul, I read your question on Pats blog. I heard that same comment by Lee and to me, it sounded like he was saying that in order for exon skipping to work for deletion of 44, then multiple exons would need to be skipped. At this time, they are still working on being able to skip mulitple exons.
But, looking at the predictors, it is predicted that skipping either 43 or 44 would work.
I think his slide with the diagram of the 79 exons was incorrect. I know that for deletion of 45 (my sons del.), skipping either 44 or 46 will restore the reading frame. According to his slide, neither of those would have worked as the puzzle pieces (exons) wouldn't have fit together correctly....so multiple exons would need to be skipped before the pieces would fit properly to restore the reading frame.
Maybe I read it wrong, but something tells me Lee was unsure himself about exon 44 and had to look back at his own diagram....which I think was wrong. It looked like it was only set up for exons in the example he was giving.