Does anyone out there know of any who will perform a needle biopsy or "Punch" biopsy? I found out from the renowned Dr. Eric Hoffman that full blown muscle biopsies are not necessary any longer and that all required to gain a good sample is done through the punch biopsy. Dr. Leshner, at Children;s in DC has done nothing more than give us the run around about this procedure. He dais he used to do them all the time when he was on staff at a hospital in Richmond. The best care for our son - Dr, Leshner is way to overworked to even care about our sons. His lack of "getting things done" is extremely compromised and he delivers nothing more than lip service, in our opinions. It's almost like, well your son will die so why rush into anything. My son is now 9 and in perfect health. Continually, he runs, jumps, swims, rides horses and plays all day. Not only that, he is an excellent student in school. According to Dr. Hoffman, boys with DMD do not run at age 9. Our son does. They are about to begin the exon skipping trials and our son will be unable to get on if the biopsy is not done and why do the full blown thing if just a punch is needed? We are so incredibly unhappy with the treatment at Children's in DC. Dr. Leshner is just way too overworked to even give a damn.

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Hi

Yes. A gene can be sequenced to determine the exact mutation that is causing the md. There is the ususal blood test that can diagnose about 85% of cases, mostly deletions. Sequencing has been refined over the past 5 years and perhaps that is how you know your son's mutation. Ohio State and University of Utah both have labs that sequence genes. If you haven't had your son's gene sequenced and you are interested in research trials, then that is something you may want to look into. Thanks for the fuller explanation of why you are looking into the needle biopsy. Makes sense.

Karen

irishgirl said:
Karen: Can you tell me what this sequenced gene is? Is it a blood test?

Karen said:
Hi

Can't a sequenced gene give similar info as a biopsy? I understand biopsies for research, but not qualifying for a trial. Maybe I am not understanding why you want to get the biopsy? I am sorry you are feeling so underserved at Children's DC. Is there somewhere else you can go?

Karen
Karen - what you speak of can only determine the deletion or mutation - it cannot determine Duchenne or Becker. I need a punch biopsy to determine Duchenne or Becker. We have already had the genetic tests done. Thanks for you words.

Karen said:
Hi

Yes. A gene can be sequenced to determine the exact mutation that is causing the md. There is the ususal blood test that can diagnose about 85% of cases, mostly deletions. Sequencing has been refined over the past 5 years and perhaps that is how you know your son's mutation. Ohio State and University of Utah both have labs that sequence genes. If you haven't had your son's gene sequenced and you are interested in research trials, then that is something you may want to look into. Thanks for the fuller explanation of why you are looking into the needle biopsy. Makes sense.

Karen

irishgirl said:
Karen: Can you tell me what this sequenced gene is? Is it a blood test?

Karen said:
Hi

Can't a sequenced gene give similar info as a biopsy? I understand biopsies for research, but not qualifying for a trial. Maybe I am not understanding why you want to get the biopsy? I am sorry you are feeling so underserved at Children's DC. Is there somewhere else you can go?

Karen
St. John's Mercy Hospital in Missouri does needle biopsies on muscles...

http://www.stjohnsmercy.org/healthinfo/test/ortho/TP024.asp

University of Rochester Medical Center...

http://www.stronghealth.com/services/neurology/clinicalservices/mus...

Most doctor's want to have an open biopsy because diseases with alot of atrophy the muscle sample extracted could be damaged easily using a closed biopsy. The closed biopsy is done in the upper extremities because of this.
I looked into this issue last summer because I'm in the same situation as you - my son has a deletion of exons 49-50. I am also anxious about the exon skipping trials.

Basically, if you've got a diagnosis at the DNA level (via partial or whole gene sequencing in the blood), you still need a diagnosis at the RNA level to see what's really happening. I was told by the people at Columbus Children's Hospital that you just need a skin biopsy for that rather than a full-blown muscle biopsy. They do them at Columbus and Cincinnati as well.

We decided to hold off because I was jumping the gun on getting it done. Do you know how soon Dr. Hoffman said that trials were coming to DC?
Mindy:

Thanks so very much for your reply. Please tell me your story and that of Aidan and how you found out about his MD. Great Irish name - my son is Liam. More power to us. Liam turned 9 last November and was diagnosed last June when he was 8. As a baby, he met all milestones on time and showed absolutely no signs of MD at all. When he was 7 and a half, we noticed he ran slower than his peirs, but doctors said he was just a tab uncoordinated. WHen he was 8.5, we had the initial blood work done - all results were normal except the CK which was just at 14,000. Form there, we had the genetic testing done. Liam is missing 48, 49 and 50. Later on I found out that I am a carrier with the same deletion. We saw Dr. Hoffman, who is the most wonderful and caring person on earth. He told us that boys Liam's age do not run - although they are still mobile, they don't run - boys with DMD that is. Well, Liam runs all over the place, he jumps, he swims, he rides horses twice a week, he seems to never get tired. Dr. Hoffman thinks he is doing natural exon skipping and this punch biopsy can determine whether Liam;'s got DMD or Becker. If Liam has Becker - he will not be able to partake in the exon skipping because it essentially will turn a Duchenne into a Becker. Either way, we feel extremely hopeful that boys like Liam and Aiden can have much longer and productive lives. Hoffman feels the trials will be here this year - he's already got the FDA approval to commence trials. They have already begun in England with amazing results. Hoffman said they just have to get the RX cocktail down pat. This is going to be a banner year, I hope. But our current doctor, RObert Leshner, here at Children's in DC, is not so great. Our son is a little a-typical among DMD boys. Leshner used to do the punch biopsy all the time when he worked in Richmond. He says he is not priviledged to do them here in DC. Well, that takes about two weeks to get the right to do them. We have been waiting more than four months for his to take care of this. He is so overworked. He constantly puts us off. SUre all the help is there h=when the diagnosis first rolls down the pike, but them after a few months - it all wears off and us, the parents, become our children's ONLY advocates and we have to be diligent. There have been so many things I found out from people like you that Leshner should have told us about. It's really unbelieveable. So, I thank you greatly. Dr. Leshner told us that he knew of no one that did the needle biopsies - how could that be when he is in a field where he used to do them. As it turns out, they do them in Ohio, St. Louis and in Rochester NY. How could he not have known that?
Sorry for the rant, but please let me know Aidan's story... I will totally keep you up with all I know from Dr. Hoffman - as it seems we are in the same sort of situation.
Noreen O'Brien

Mindy said:
I looked into this issue last summer because I'm in the same situation as you - my son has a deletion of exons 49-50. I am also anxious about the exon skipping trials.

Basically, if you've got a diagnosis at the DNA level (via partial or whole gene sequencing in the blood), you still need a diagnosis at the RNA level to see what's really happening. I was told by the people at Columbus Children's Hospital that you just need a skin biopsy for that rather than a full-blown muscle biopsy. They do them at Columbus and Cincinnati as well.

We decided to hold off because I was jumping the gun on getting it done. Do you know how soon Dr. Hoffman said that trials were coming to DC?
Hi Mindy,

My son Ryan is 6 and will turn 7 in july. he also has a deletion of 48-50. I responded to your info on the AVI info today thanks for that. What symptoms did your son have and how is he doing now. Ryan got diagnosed Dec 08. We are on our first trip to Dr Wong on 27th April. Let me know more about the trial if you get any info. I am interested in the trial also.

Thanks
Ana

Mindy said:
I looked into this issue last summer because I'm in the same situation as you - my son has a deletion of exons 49-50. I am also anxious about the exon skipping trials.

Basically, if you've got a diagnosis at the DNA level (via partial or whole gene sequencing in the blood), you still need a diagnosis at the RNA level to see what's really happening. I was told by the people at Columbus Children's Hospital that you just need a skin biopsy for that rather than a full-blown muscle biopsy. They do them at Columbus and Cincinnati as well.

We decided to hold off because I was jumping the gun on getting it done. Do you know how soon Dr. Hoffman said that trials were coming to DC?
I would like to respond to this paragraph below. Do not go run off and get a diagnosis at the RNA level just yet. The inclusion criteria HAVE NOT been established for US trials as of yet. Of course, you will need to have a muscle biopsy done and MAKE SURE they take enough sample for freezing for later use. Once you have the bx - they will do a Western Blot test and then the test to figure out the percentage, if any, of dystrophin being produced.

Furthermore, both the skin or punch biopsy and regular biopsy require anesthesia - the main disruption factor and cause for alarm. The problem with the punch is that they cannot get enough sample for freezing for later testing - so you child more likely would have to go through it again. The regular BX is really nothing at all.

What until the trial inclusion guidelines are established. One required element will be a biopsy - even if just for a baseline. Children's in DC has just hired a new researcher how is a whiz in dealing with the FDA. If you son has a deletion - out of frame - missing exons 48, 49 and 50 - as my son does - you should be sitting high on life because if our kids had to get MD - they got the best deletion possible for future treatments. If our sons had say a deletion of exon 2, would the treatment filter down to that level - no probably not in time to extend that life. Also there is new research coming out showing that kids with the deletion our kids are showing - are doing better for some reason that other deletions or mutations. I mean, my kid is 9 and runs all over the place - virtually unrecognizable other than being more slow than his classmates and he's got Duchenne - I mean - go figure!

As long as you have your son signed up on every MD database all across the world and have a bx - you are sitting pretty for the trials. It can take up to a month for bx results to come in - Western Blot is faster. They have not established any criteria and the current criteria used for the UV trials in the UK will be changed because that does is so low - it will more likely prove no positive results. So it will be changed. Sit tight, they are coming and according to Dr. Leshner, this is the first time in his 30 plus year career that he is feeling extremely positive about this treatment and how it will change the face of this disease. Children that can be helped by exon 51 skipping are very, very LUCKY - I take that to heart each and every day. How lucky!!!!!

Basically, if you've got a diagnosis at the DNA level (via partial or whole gene sequencing in the blood), you still need a diagnosis at the RNA level to see what's really happening. I was told by the people at Columbus Children's Hospital that you just need a skin biopsy for that rather than a full-blown muscle biopsy. They do them at Columbus and Cincinnati as well.

Ana Vaish said:
Hi Mindy,

My son Ryan is 6 and will turn 7 in july. he also has a deletion of 48-50. I responded to your info on the AVI info today thanks for that. What symptoms did your son have and how is he doing now. Ryan got diagnosed Dec 08. We are on our first trip to Dr Wong on 27th April. Let me know more about the trial if you get any info. I am interested in the trial also.

Thanks
Ana

Mindy said:
I looked into this issue last summer because I'm in the same situation as you - my son has a deletion of exons 49-50. I am also anxious about the exon skipping trials.

Basically, if you've got a diagnosis at the DNA level (via partial or whole gene sequencing in the blood), you still need a diagnosis at the RNA level to see what's really happening. I was told by the people at Columbus Children's Hospital that you just need a skin biopsy for that rather than a full-blown muscle biopsy. They do them at Columbus and Cincinnati as well.

We decided to hold off because I was jumping the gun on getting it done. Do you know how soon Dr. Hoffman said that trials were coming to DC?
Hi Noreen,

Thanks for the input. That is Great. Ryan has an Out of frame deletion of 48-50. Do you have Liam's biopsy results yet? Best of luck for that. Please keep me updated with the trials.

Ana

irishgirl said:
I would like to respond to this paragraph below. Do not go run off and get a diagnosis at the RNA level just yet. The inclusion criteria HAVE NOT been established for US trials as of yet. Of course, you will need to have a muscle biopsy done and MAKE SURE they take enough sample for freezing for later use. Once you have the bx - they will do a Western Blot test and then the test to figure out the percentage, if any, of dystrophin being produced.

Furthermore, both the skin or punch biopsy and regular biopsy require anesthesia - the main disruption factor and cause for alarm. The problem with the punch is that they cannot get enough sample for freezing for later testing - so you child more likely would have to go through it again. The regular BX is really nothing at all.

What until the trial inclusion guidelines are established. One required element will be a biopsy - even if just for a baseline. Children's in DC has just hired a new researcher how is a whiz in dealing with the FDA. If you son has a deletion - out of frame - missing exons 48, 49 and 50 - as my son does - you should be sitting high on life because if our kids had to get MD - they got the best deletion possible for future treatments. If our sons had say a deletion of exon 2, would the treatment filter down to that level - no probably not in time to extend that life. Also there is new research coming out showing that kids with the deletion our kids are showing - are doing better for some reason that other deletions or mutations. I mean, my kid is 9 and runs all over the place - virtually unrecognizable other than being more slow than his classmates and he's got Duchenne - I mean - go figure!

As long as you have your son signed up on every MD database all across the world and have a bx - you are sitting pretty for the trials. It can take up to a month for bx results to come in - Western Blot is faster. They have not established any criteria and the current criteria used for the UV trials in the UK will be changed because that does is so low - it will more likely prove no positive results. So it will be changed. Sit tight, they are coming and according to Dr. Leshner, this is the first time in his 30 plus year career that he is feeling extremely positive about this treatment and how it will change the face of this disease. Children that can be helped by exon 51 skipping are very, very LUCKY - I take that to heart each and every day. How lucky!!!!!

Basically, if you've got a diagnosis at the DNA level (via partial or whole gene sequencing in the blood), you still need a diagnosis at the RNA level to see what's really happening. I was told by the people at Columbus Children's Hospital that you just need a skin biopsy for that rather than a full-blown muscle biopsy. They do them at Columbus and Cincinnati as well.

Ana Vaish said:
Hi Mindy,

My son Ryan is 6 and will turn 7 in july. he also has a deletion of 48-50. I responded to your info on the AVI info today thanks for that. What symptoms did your son have and how is he doing now. Ryan got diagnosed Dec 08. We are on our first trip to Dr Wong on 27th April. Let me know more about the trial if you get any info. I am interested in the trial also.

Thanks
Ana

Mindy said:
I looked into this issue last summer because I'm in the same situation as you - my son has a deletion of exons 49-50. I am also anxious about the exon skipping trials.

Basically, if you've got a diagnosis at the DNA level (via partial or whole gene sequencing in the blood), you still need a diagnosis at the RNA level to see what's really happening. I was told by the people at Columbus Children's Hospital that you just need a skin biopsy for that rather than a full-blown muscle biopsy. They do them at Columbus and Cincinnati as well.

We decided to hold off because I was jumping the gun on getting it done. Do you know how soon Dr. Hoffman said that trials were coming to DC?
Hi Ana: I figure, we take information from everyone on this site and ask tons of questions!!!! Everyone on this site have been absolutely invaluable to me.
Liam has the same out of frame deletions as Ryan. Are you a carrier, by any chance??? I am and never knew it, but if I did know it, I would have Liam all over again even knowing what I do. The only way Liam can be in this world is to have MD and I'll take that.
Both of our boys are in great positions - if they had to get this crappy disease, they got the best deletions.
Ryan is adorable.
Noreen

Ana Vaish said:
Hi Noreen,

Thanks for the input. That is Great. Ryan has an Out of frame deletion of 48-50. Do you have Liam's biopsy results yet? Best of luck for that. Please keep me updated with the trials.

Ana

irishgirl said:
I would like to respond to this paragraph below. Do not go run off and get a diagnosis at the RNA level just yet. The inclusion criteria HAVE NOT been established for US trials as of yet. Of course, you will need to have a muscle biopsy done and MAKE SURE they take enough sample for freezing for later use. Once you have the bx - they will do a Western Blot test and then the test to figure out the percentage, if any, of dystrophin being produced.

Furthermore, both the skin or punch biopsy and regular biopsy require anesthesia - the main disruption factor and cause for alarm. The problem with the punch is that they cannot get enough sample for freezing for later testing - so you child more likely would have to go through it again. The regular BX is really nothing at all.

What until the trial inclusion guidelines are established. One required element will be a biopsy - even if just for a baseline. Children's in DC has just hired a new researcher how is a whiz in dealing with the FDA. If you son has a deletion - out of frame - missing exons 48, 49 and 50 - as my son does - you should be sitting high on life because if our kids had to get MD - they got the best deletion possible for future treatments. If our sons had say a deletion of exon 2, would the treatment filter down to that level - no probably not in time to extend that life. Also there is new research coming out showing that kids with the deletion our kids are showing - are doing better for some reason that other deletions or mutations. I mean, my kid is 9 and runs all over the place - virtually unrecognizable other than being more slow than his classmates and he's got Duchenne - I mean - go figure!

As long as you have your son signed up on every MD database all across the world and have a bx - you are sitting pretty for the trials. It can take up to a month for bx results to come in - Western Blot is faster. They have not established any criteria and the current criteria used for the UV trials in the UK will be changed because that does is so low - it will more likely prove no positive results. So it will be changed. Sit tight, they are coming and according to Dr. Leshner, this is the first time in his 30 plus year career that he is feeling extremely positive about this treatment and how it will change the face of this disease. Children that can be helped by exon 51 skipping are very, very LUCKY - I take that to heart each and every day. How lucky!!!!!

Basically, if you've got a diagnosis at the DNA level (via partial or whole gene sequencing in the blood), you still need a diagnosis at the RNA level to see what's really happening. I was told by the people at Columbus Children's Hospital that you just need a skin biopsy for that rather than a full-blown muscle biopsy. They do them at Columbus and Cincinnati as well.

Ana Vaish said:
Hi Mindy,

My son Ryan is 6 and will turn 7 in july. he also has a deletion of 48-50. I responded to your info on the AVI info today thanks for that. What symptoms did your son have and how is he doing now. Ryan got diagnosed Dec 08. We are on our first trip to Dr Wong on 27th April. Let me know more about the trial if you get any info. I am interested in the trial also.

Thanks
Ana

Mindy said:
I looked into this issue last summer because I'm in the same situation as you - my son has a deletion of exons 49-50. I am also anxious about the exon skipping trials.

Basically, if you've got a diagnosis at the DNA level (via partial or whole gene sequencing in the blood), you still need a diagnosis at the RNA level to see what's really happening. I was told by the people at Columbus Children's Hospital that you just need a skin biopsy for that rather than a full-blown muscle biopsy. They do them at Columbus and Cincinnati as well.

We decided to hold off because I was jumping the gun on getting it done. Do you know how soon Dr. Hoffman said that trials were coming to DC?
Thanks Noreen,

I have still not been able to digest Ryan's diagnosis so haven't had the courage to get myself tested to see if I am a carrier or not. Your info about the trials coming this year have made my day.

Thanks again
Ana

irishgirl said:
Hi Ana: I figure, we take information from everyone on this site and ask tons of questions!!!! Everyone on this site have been absolutely invaluable to me.
Liam has the same out of frame deletions as Ryan. Are you a carrier, by any chance??? I am and never knew it, but if I did know it, I would have Liam all over again even knowing what I do. The only way Liam can be in this world is to have MD and I'll take that.
Both of our boys are in great positions - if they had to get this crappy disease, they got the best deletions.
Ryan is adorable.
Noreen

Ana Vaish said:
Hi Noreen,

Thanks for the input. That is Great. Ryan has an Out of frame deletion of 48-50. Do you have Liam's biopsy results yet? Best of luck for that. Please keep me updated with the trials.

Ana

irishgirl said:
I would like to respond to this paragraph below. Do not go run off and get a diagnosis at the RNA level just yet. The inclusion criteria HAVE NOT been established for US trials as of yet. Of course, you will need to have a muscle biopsy done and MAKE SURE they take enough sample for freezing for later use. Once you have the bx - they will do a Western Blot test and then the test to figure out the percentage, if any, of dystrophin being produced.

Furthermore, both the skin or punch biopsy and regular biopsy require anesthesia - the main disruption factor and cause for alarm. The problem with the punch is that they cannot get enough sample for freezing for later testing - so you child more likely would have to go through it again. The regular BX is really nothing at all.

What until the trial inclusion guidelines are established. One required element will be a biopsy - even if just for a baseline. Children's in DC has just hired a new researcher how is a whiz in dealing with the FDA. If you son has a deletion - out of frame - missing exons 48, 49 and 50 - as my son does - you should be sitting high on life because if our kids had to get MD - they got the best deletion possible for future treatments. If our sons had say a deletion of exon 2, would the treatment filter down to that level - no probably not in time to extend that life. Also there is new research coming out showing that kids with the deletion our kids are showing - are doing better for some reason that other deletions or mutations. I mean, my kid is 9 and runs all over the place - virtually unrecognizable other than being more slow than his classmates and he's got Duchenne - I mean - go figure!

As long as you have your son signed up on every MD database all across the world and have a bx - you are sitting pretty for the trials. It can take up to a month for bx results to come in - Western Blot is faster. They have not established any criteria and the current criteria used for the UV trials in the UK will be changed because that does is so low - it will more likely prove no positive results. So it will be changed. Sit tight, they are coming and according to Dr. Leshner, this is the first time in his 30 plus year career that he is feeling extremely positive about this treatment and how it will change the face of this disease. Children that can be helped by exon 51 skipping are very, very LUCKY - I take that to heart each and every day. How lucky!!!!!

Basically, if you've got a diagnosis at the DNA level (via partial or whole gene sequencing in the blood), you still need a diagnosis at the RNA level to see what's really happening. I was told by the people at Columbus Children's Hospital that you just need a skin biopsy for that rather than a full-blown muscle biopsy. They do them at Columbus and Cincinnati as well.

Ana Vaish said:
Hi Mindy,

My son Ryan is 6 and will turn 7 in july. he also has a deletion of 48-50. I responded to your info on the AVI info today thanks for that. What symptoms did your son have and how is he doing now. Ryan got diagnosed Dec 08. We are on our first trip to Dr Wong on 27th April. Let me know more about the trial if you get any info. I am interested in the trial also.

Thanks
Ana

Mindy said:
I looked into this issue last summer because I'm in the same situation as you - my son has a deletion of exons 49-50. I am also anxious about the exon skipping trials.

Basically, if you've got a diagnosis at the DNA level (via partial or whole gene sequencing in the blood), you still need a diagnosis at the RNA level to see what's really happening. I was told by the people at Columbus Children's Hospital that you just need a skin biopsy for that rather than a full-blown muscle biopsy. They do them at Columbus and Cincinnati as well.

We decided to hold off because I was jumping the gun on getting it done. Do you know how soon Dr. Hoffman said that trials were coming to DC?
Ana: If you do get tested - and are a carrier - YOU ARE NOT TO BLAME. I was adopted and back then, adoptions were never done with medical records - moreover, no one knew anything about MD 35+ years ago.
I was in your current state of mind, but I can assure you that the gray cloud will move off to the side and you will be able to fully embrace life with Ryan and take each day. We are lucky that our boys do not have not have to spend their days lying in hospital beds with needles and iv constantly attached to their bodies. We are lucky that we still have our kids - life can be stripped away in a matter of seconds. We are lucky that MD is not a painful disease. Ana, you are stronger than you realize. I'm not sure if we ever totally digest this situation due to the unfair nature of MD, but we do come to really enjoy life with our children in way we maybe would not if they did not have MD. The future is bright and I employ you to hold strong to that... But feel free to email me anytime at irishgirl112299@yahoo.com even if you're just having a bad MD day.
Noreen


Ana Vaish said:
Thanks Noreen,

I have still not been able to digest Ryan's diagnosis so haven't had the courage to get myself tested to see if I am a carrier or not. Your info about the trials coming this year have made my day.

Thanks again
Ana

irishgirl said:
Hi Ana: I figure, we take information from everyone on this site and ask tons of questions!!!! Everyone on this site have been absolutely invaluable to me.
Liam has the same out of frame deletions as Ryan. Are you a carrier, by any chance??? I am and never knew it, but if I did know it, I would have Liam all over again even knowing what I do. The only way Liam can be in this world is to have MD and I'll take that.
Both of our boys are in great positions - if they had to get this crappy disease, they got the best deletions.
Ryan is adorable.
Noreen

Ana Vaish said:
Hi Noreen,

Thanks for the input. That is Great. Ryan has an Out of frame deletion of 48-50. Do you have Liam's biopsy results yet? Best of luck for that. Please keep me updated with the trials.

Ana

irishgirl said:
I would like to respond to this paragraph below. Do not go run off and get a diagnosis at the RNA level just yet. The inclusion criteria HAVE NOT been established for US trials as of yet. Of course, you will need to have a muscle biopsy done and MAKE SURE they take enough sample for freezing for later use. Once you have the bx - they will do a Western Blot test and then the test to figure out the percentage, if any, of dystrophin being produced.

Furthermore, both the skin or punch biopsy and regular biopsy require anesthesia - the main disruption factor and cause for alarm. The problem with the punch is that they cannot get enough sample for freezing for later testing - so you child more likely would have to go through it again. The regular BX is really nothing at all.

What until the trial inclusion guidelines are established. One required element will be a biopsy - even if just for a baseline. Children's in DC has just hired a new researcher how is a whiz in dealing with the FDA. If you son has a deletion - out of frame - missing exons 48, 49 and 50 - as my son does - you should be sitting high on life because if our kids had to get MD - they got the best deletion possible for future treatments. If our sons had say a deletion of exon 2, would the treatment filter down to that level - no probably not in time to extend that life. Also there is new research coming out showing that kids with the deletion our kids are showing - are doing better for some reason that other deletions or mutations. I mean, my kid is 9 and runs all over the place - virtually unrecognizable other than being more slow than his classmates and he's got Duchenne - I mean - go figure!

As long as you have your son signed up on every MD database all across the world and have a bx - you are sitting pretty for the trials. It can take up to a month for bx results to come in - Western Blot is faster. They have not established any criteria and the current criteria used for the UV trials in the UK will be changed because that does is so low - it will more likely prove no positive results. So it will be changed. Sit tight, they are coming and according to Dr. Leshner, this is the first time in his 30 plus year career that he is feeling extremely positive about this treatment and how it will change the face of this disease. Children that can be helped by exon 51 skipping are very, very LUCKY - I take that to heart each and every day. How lucky!!!!!

Basically, if you've got a diagnosis at the DNA level (via partial or whole gene sequencing in the blood), you still need a diagnosis at the RNA level to see what's really happening. I was told by the people at Columbus Children's Hospital that you just need a skin biopsy for that rather than a full-blown muscle biopsy. They do them at Columbus and Cincinnati as well.

Ana Vaish said:
Hi Mindy,

My son Ryan is 6 and will turn 7 in july. he also has a deletion of 48-50. I responded to your info on the AVI info today thanks for that. What symptoms did your son have and how is he doing now. Ryan got diagnosed Dec 08. We are on our first trip to Dr Wong on 27th April. Let me know more about the trial if you get any info. I am interested in the trial also.

Thanks
Ana

Mindy said:
I looked into this issue last summer because I'm in the same situation as you - my son has a deletion of exons 49-50. I am also anxious about the exon skipping trials.

Basically, if you've got a diagnosis at the DNA level (via partial or whole gene sequencing in the blood), you still need a diagnosis at the RNA level to see what's really happening. I was told by the people at Columbus Children's Hospital that you just need a skin biopsy for that rather than a full-blown muscle biopsy. They do them at Columbus and Cincinnati as well.

We decided to hold off because I was jumping the gun on getting it done. Do you know how soon Dr. Hoffman said that trials were coming to DC?
Thanks a ton. I will try to gather all my courage once I come back from Dr. Wong.

Have a great day
Ana


irishgirl said:
Ana: If you do get tested - and are a carrier - YOU ARE NOT TO BLAME. I was adopted and back then, adoptions were never done with medical records - moreover, no one knew anything about MD 35+ years ago.
I was in your current state of mind, but I can assure you that the gray cloud will move off to the side and you will be able to fully embrace life with Ryan and take each day. We are lucky that our boys do not have not have to spend their days lying in hospital beds with needles and iv constantly attached to their bodies. We are lucky that we still have our kids - life can be stripped away in a matter of seconds. We are lucky that MD is not a painful disease. Ana, you are stronger than you realize. I'm not sure if we ever totally digest this situation due to the unfair nature of MD, but we do come to really enjoy life with our children in way we maybe would not if they did not have MD. The future is bright and I employ you to hold strong to that... But feel free to email me anytime at irishgirl112299@yahoo.com even if you're just having a bad MD day.
Noreen


Ana Vaish said:
Thanks Noreen,

I have still not been able to digest Ryan's diagnosis so haven't had the courage to get myself tested to see if I am a carrier or not. Your info about the trials coming this year have made my day.

Thanks again
Ana

irishgirl said:
Hi Ana: I figure, we take information from everyone on this site and ask tons of questions!!!! Everyone on this site have been absolutely invaluable to me.
Liam has the same out of frame deletions as Ryan. Are you a carrier, by any chance??? I am and never knew it, but if I did know it, I would have Liam all over again even knowing what I do. The only way Liam can be in this world is to have MD and I'll take that.
Both of our boys are in great positions - if they had to get this crappy disease, they got the best deletions.
Ryan is adorable.
Noreen

Ana Vaish said:
Hi Noreen,

Thanks for the input. That is Great. Ryan has an Out of frame deletion of 48-50. Do you have Liam's biopsy results yet? Best of luck for that. Please keep me updated with the trials.

Ana

irishgirl said:
I would like to respond to this paragraph below. Do not go run off and get a diagnosis at the RNA level just yet. The inclusion criteria HAVE NOT been established for US trials as of yet. Of course, you will need to have a muscle biopsy done and MAKE SURE they take enough sample for freezing for later use. Once you have the bx - they will do a Western Blot test and then the test to figure out the percentage, if any, of dystrophin being produced.

Furthermore, both the skin or punch biopsy and regular biopsy require anesthesia - the main disruption factor and cause for alarm. The problem with the punch is that they cannot get enough sample for freezing for later testing - so you child more likely would have to go through it again. The regular BX is really nothing at all.

What until the trial inclusion guidelines are established. One required element will be a biopsy - even if just for a baseline. Children's in DC has just hired a new researcher how is a whiz in dealing with the FDA. If you son has a deletion - out of frame - missing exons 48, 49 and 50 - as my son does - you should be sitting high on life because if our kids had to get MD - they got the best deletion possible for future treatments. If our sons had say a deletion of exon 2, would the treatment filter down to that level - no probably not in time to extend that life. Also there is new research coming out showing that kids with the deletion our kids are showing - are doing better for some reason that other deletions or mutations. I mean, my kid is 9 and runs all over the place - virtually unrecognizable other than being more slow than his classmates and he's got Duchenne - I mean - go figure!

As long as you have your son signed up on every MD database all across the world and have a bx - you are sitting pretty for the trials. It can take up to a month for bx results to come in - Western Blot is faster. They have not established any criteria and the current criteria used for the UV trials in the UK will be changed because that does is so low - it will more likely prove no positive results. So it will be changed. Sit tight, they are coming and according to Dr. Leshner, this is the first time in his 30 plus year career that he is feeling extremely positive about this treatment and how it will change the face of this disease. Children that can be helped by exon 51 skipping are very, very LUCKY - I take that to heart each and every day. How lucky!!!!!

Basically, if you've got a diagnosis at the DNA level (via partial or whole gene sequencing in the blood), you still need a diagnosis at the RNA level to see what's really happening. I was told by the people at Columbus Children's Hospital that you just need a skin biopsy for that rather than a full-blown muscle biopsy. They do them at Columbus and Cincinnati as well.

Ana Vaish said:
Hi Mindy,

My son Ryan is 6 and will turn 7 in july. he also has a deletion of 48-50. I responded to your info on the AVI info today thanks for that. What symptoms did your son have and how is he doing now. Ryan got diagnosed Dec 08. We are on our first trip to Dr Wong on 27th April. Let me know more about the trial if you get any info. I am interested in the trial also.

Thanks
Ana

Mindy said:
I looked into this issue last summer because I'm in the same situation as you - my son has a deletion of exons 49-50. I am also anxious about the exon skipping trials.

Basically, if you've got a diagnosis at the DNA level (via partial or whole gene sequencing in the blood), you still need a diagnosis at the RNA level to see what's really happening. I was told by the people at Columbus Children's Hospital that you just need a skin biopsy for that rather than a full-blown muscle biopsy. They do them at Columbus and Cincinnati as well.

We decided to hold off because I was jumping the gun on getting it done. Do you know how soon Dr. Hoffman said that trials were coming to DC?

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