Tags:
What Dr. Hoffman told my husband and myself was to NOT get the full blown muscle biopsy, but to get a needle muscle biopsy. It takes a small portion of the muscle out which is more than enough to detect dystrophin. He likened it to a breast biopsy. They numb the area and then in goes the thin needle - into the leg in this case. I was putting off the regular biopsy due to the invasive nature - wait until a specific trial asks for it. That was until I heard this news. We have an appointment with our son's regular doc, Dr. Robert Leshner at Children's in DC in early October and we will proceed with the needle biopsy from there. Of course we want to know if our son has Becker or Duchenne and we want all the ducks straight prior to exon skipping clinical trials. There is just so much on the verge here, we all have to hope.
I hope this helps - even if just a little.
Thank you! That needle muscle biopsy sounds good. A lot less invasive than the regular one.
Do you know if Dr. Hoffman is working on exon skipping using the PPMOs, the new morpholinos with peptide attached? Is he planning a trial skipping exon 51?
irishgirl said:What Dr. Hoffman told my husband and myself was to NOT get the full blown muscle biopsy, but to get a needle muscle biopsy. It takes a small portion of the muscle out which is more than enough to detect dystrophin. He likened it to a breast biopsy. They numb the area and then in goes the thin needle - into the leg in this case. I was putting off the regular biopsy due to the invasive nature - wait until a specific trial asks for it. That was until I heard this news. We have an appointment with our son's regular doc, Dr. Robert Leshner at Children's in DC in early October and we will proceed with the needle biopsy from there. Of course we want to know if our son has Becker or Duchenne and we want all the ducks straight prior to exon skipping clinical trials. There is just so much on the verge here, we all have to hope.
I hope this helps - even if just a little.
Yes, this needle biospy is indeed a good thing. And yes, Hoffnman is working on skipping 51 - he said that the doses currently in use will not do much as they are so low. He is working on reducing the toxicity that comes from higher doses. He says look for the trials within the next two years, probably sooner. He is going about this the right way, we feel. Unlike in Holland - where the doses is too low and the drug is old. I will keep you up to date when I find out anything.
Ofelia Marin said:Thank you! That needle muscle biopsy sounds good. A lot less invasive than the regular one.
Do you know if Dr. Hoffman is working on exon skipping using the PPMOs, the new morpholinos with peptide attached? Is he planning a trial skipping exon 51?
irishgirl said:What Dr. Hoffman told my husband and myself was to NOT get the full blown muscle biopsy, but to get a needle muscle biopsy. It takes a small portion of the muscle out which is more than enough to detect dystrophin. He likened it to a breast biopsy. They numb the area and then in goes the thin needle - into the leg in this case. I was putting off the regular biopsy due to the invasive nature - wait until a specific trial asks for it. That was until I heard this news. We have an appointment with our son's regular doc, Dr. Robert Leshner at Children's in DC in early October and we will proceed with the needle biopsy from there. Of course we want to know if our son has Becker or Duchenne and we want all the ducks straight prior to exon skipping clinical trials. There is just so much on the verge here, we all have to hope.
I hope this helps - even if just a little.
I pray that it is Becker's. Exon 51 is such a hot spot that it could easily be spliced out even if DNA sequencing shows its existence which could explain your son's a-typical progression.
I pray that it is Becker's. Exon 51 is such a hot spot that it could easily be spliced out even if DNA sequencing shows its existence which could explain your son's a-typical progression.
The surgeon is right - the only concern is the anesthesia. Go over it as many times with his surgeon and the anesthesiologist so you are comfortable with what they will be doing. For my son (who was 5 at the time) they let us be there for the anesthesia delivery. First they had my son drink something that made him woozy, then they injected the anesthesia (which can be a little painful through tiny veins). The biopsy procedure itself is quick; it was over and done with before I had time to worry about it. Your son will be walking home after the procedure, no doubt about it. I hope you get the results you're hoping for.
Hey - I forgot to ask if you could please explain further what you mention about the splicing - at more of a 3rd grade level? Haha! Thanks
MarcosDad said:I pray that it is Becker's. Exon 51 is such a hot spot that it could easily be spliced out even if DNA sequencing shows its existence which could explain your son's a-typical progression.
© 2023 Created by PPMD.
Powered by
Badges | Report an Issue | Privacy Policy | Terms of Service