Dear all:
I know we have all suffered this same situation, although you may have some advantages I don't share. I live in Panama, and here doctors are not really informed about this desease. My husband and I already sent our son's DNA to the Uinversity of Utah, which revealed the presence of a stop codon mutation in Exan 10. It is now when we feel most frustrated since we don't know what is the next step to follow, like which doctor is the most addecuate to treat our case.
What would you recommend?
Any opinion is welcome and very appreciated.
Thank you very much
Blanca Bibas

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if you have a stop codon, you need to be looking at PTC124. It is proving VERY effective in treating the disease for stop codes. I believe it is in phase 2b trial now, so hopefully you will have a drug soon (ok, don't know what soon is!). I am sure someone on here who is in the trial can help you more.
Dear Lori,
Thank you for the info. Do you know how can I get the treatment or a doctor to whom I can talk to to get it??
Thaks
Blanca
We don't have a stop code, so we are not a part of the trial, but I know that Dr. Kevin Flannigan in UT is a part of the trial. I don't think they are taking more boys, but you need to know where to go to be ready when it is available. I guess, I would start with Dr. Flanigan and go from there. Pat Furlong with PPMD could give you more (and more detailed/accurate) info.

Happy Easter.
lori

Blanca Wainberg said:
Dear Lori,
Thank you for the info. Do you know how can I get the treatment or a doctor to whom I can talk to to get it??
Thaks
Blanca
I have to admit I don't know a lot about PTC 124. I know there is a 2b trial started or starting soon. From what I read about the previous trial doctors were encouraged with the results. I would say that is a far cry from "VERY effective in treating the disease". Am I missing something?

Lori Ware said:
if you have a stop codon, you need to be looking at PTC124. It is proving VERY effective in treating the disease for stop codes. I believe it is in phase 2b trial now, so hopefully you will have a drug soon (ok, don't know what soon is!). I am sure someone on here who is in the trial can help you more.
Blanca,
Be sure to register with Duchenne Connect (you can link to it from this website, but I think it is www.duchenneconnect.org) and sign up to speak with a genetic counselor. They can link you with the right people for whatever treatement is available.
As far as PTC, i have heard of some boys in the trial doing things they have NEVER done before..but of course that is all just from parental observation as the results of the trial have not been released. So, for me...looking from the outside, it is effective...if I were in the trial, maybe I would feel differently. But from what I hear, it is working!

Duchenne Connect would be a great place for you to start to find out for sure!

Janine said:
I have to admit I don't know a lot about PTC 124. I know there is a 2b trial started or starting soon. From what I read about the previous trial doctors were encouraged with the results. I would say that is a far cry from "VERY effective in treating the disease". Am I missing something?

Lori Ware said:
if you have a stop codon, you need to be looking at PTC124. It is proving VERY effective in treating the disease for stop codes. I believe it is in phase 2b trial now, so hopefully you will have a drug soon (ok, don't know what soon is!). I am sure someone on here who is in the trial can help you more.
Blanca,

Ahora escribanle a Pat Furlong, la presidenta de PPDMD y la que dirige esta página, de parte de JP. de Perú, que por favor les envíe el paquete de info que me envió, luego ponganse en contacto con el Cincinatti Children´s Hospital y traten de tener una cita con la Dra. Wong, eslo que ypo estoy haciendo,

buena suerte
JP.

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