Does anyone know about genes that regulate osteopontin - as a possible genetic modifier for those DMD boys that are atypical?

Views: 263

Reply to This

Replies to This Discussion

I don't know anything about this, but in what way do you mean atypical....slow or fast progressing?
Atypical, meaning not following the usual DMD symptoms. My son will be 10 this November. He is very strong and completely ambulatory. He runs, jumps, rides horses, and swims. He does not fatigue easily. He is in the 4th grade and very bright. A few months ago, we had a biopsy performed to see if he had Becker or Duchenne. He's got DMD and is producing less than 1% dystrophin. Typically at this age, DMD boys do not run, although can still walk. They use aides to help with mobility. When our son was 7.5 a neurologist said he had motor apraxia and not to worry at all. Even he completely missed the MD. A year later, at the request of the school's PT who knew he did not have apraxia in any way, suggested we get a second opinion. Blood test revealed a high CK and further testing showed MD. Even our son's regular pediatrician saw no signs that would lean to MD. There has been some talk surrounding MD boys with deletions of exons 48, 49 and 50 (as in my son's case) doing better than the average DMD child, but not much is out to medically back that up. Within every scope of disease there are outliers and my son obviously has got something special going on here. His doctor mentioned the genes that regulate osteopontin as being a possible modifier - like natural exon skipping. I've not heard of this before, but I do know that Eric Hoffman at CNMC in DC is looking into this particular item. I was wondering if anyone out here knew about this.
Your son sounds very much like the three brothers from O'Fallon, MO. All three are teenagers and from the last I heard do not display the typical signs of DMD. They are still walking and very much like your son. They were being tested to see why they were like this, but I don't know if the results of those tests were ever made public. Their father even quipped that they had the best worst luck around. Very interesting about the ostepontin being a modifier.

irishgirl said:
Atypical, meaning not following the usual DMD symptoms. My son will be 10 this November. He is very strong and completely ambulatory. He runs, jumps, rides horses, and swims. He does not fatigue easily. He is in the 4th grade and very bright. A few months ago, we had a biopsy performed to see if he had Becker or Duchenne. He's got DMD and is producing less than 1% dystrophin. Typically at this age, DMD boys do not run, although can still walk. They use aides to help with mobility. When our son was 7.5 a neurologist said he had motor apraxia and not to worry at all. Even he completely missed the MD. A year later, at the request of the school's PT who knew he did not have apraxia in any way, suggested we get a second opinion. Blood test revealed a high CK and further testing showed MD. Even our son's regular pediatrician saw no signs that would lean to MD. There has been some talk surrounding MD boys with deletions of exons 48, 49 and 50 (as in my son's case) doing better than the average DMD child, but not much is out to medically back that up. Within every scope of disease there are outliers and my son obviously has got something special going on here. His doctor mentioned the genes that regulate osteopontin as being a possible modifier - like natural exon skipping. I've not heard of this before, but I do know that Eric Hoffman at CNMC in DC is looking into this particular item. I was wondering if anyone out here knew about this.
Terry:

Thanks!!! The last way I want to come across on this wonderful site is touting my own horn. I know the misery and longing associated with this horrible disease. I understand how people hold on to one thing for comfort. My son doing well is my vice. My best friend watches him in disbelief. Then I think about who would want to marry a man in a wheelchair? Will my son ever know love - like I do not only for him, but for my husband as well? I am so incredibly lucky to have my Liam, but I cannot imagine watching him decline and die. He means so much to me-so much! I do feel lucky that if my son has to have DMD, he's got the very best one to have with regards to the upcoming exon 51 skipping and by him doing so well.

Terry Porcaro said:
Your son sounds very much like the three brothers from O'Fallon, MO. All three are teenagers and from the last I heard do not display the typical signs of DMD. They are still walking and very much like your son. They were being tested to see why they were like this, but I don't know if the results of those tests were ever made public. Their father even quipped that they had the best worst luck around. Very interesting about the ostepontin being a modifier.

irishgirl said:
Atypical, meaning not following the usual DMD symptoms. My son will be 10 this November. He is very strong and completely ambulatory. He runs, jumps, rides horses, and swims. He does not fatigue easily. He is in the 4th grade and very bright. A few months ago, we had a biopsy performed to see if he had Becker or Duchenne. He's got DMD and is producing less than 1% dystrophin. Typically at this age, DMD boys do not run, although can still walk. They use aides to help with mobility. When our son was 7.5 a neurologist said he had motor apraxia and not to worry at all. Even he completely missed the MD. A year later, at the request of the school's PT who knew he did not have apraxia in any way, suggested we get a second opinion. Blood test revealed a high CK and further testing showed MD. Even our son's regular pediatrician saw no signs that would lean to MD. There has been some talk surrounding MD boys with deletions of exons 48, 49 and 50 (as in my son's case) doing better than the average DMD child, but not much is out to medically back that up. Within every scope of disease there are outliers and my son obviously has got something special going on here. His doctor mentioned the genes that regulate osteopontin as being a possible modifier - like natural exon skipping. I've not heard of this before, but I do know that Eric Hoffman at CNMC in DC is looking into this particular item. I was wondering if anyone out here knew about this.
This is interesting. My son, age 7.5 has deletions at 46-50. He needs to skip 45 and 51, so exon skipping will be YEARS for us. But, as of now, he is doing exceptionally well. He has no waddle, he can run, jump, swim, climb a small climbing wall, hop on one foot...really just about anything any other boy can do, just not run as fast or be as strong. He does tire more easily, but Dr. Wong is now calling his progression mild, rather than average. I have never heard about osteopontin or it maybe being a geneitc modifier. I will certainly look into it.

I also have wondered what happened with the boys in MO...would be interesting to know.

Thanks!
Lori
Dr. Hoffman is looking into medications that may be able to reduce osteopontin levels. Certain statins might help achieve this process. Not sure where they are with this research so it would be good if you kept him posted on your son's status which may help expediate that research. Glad to hear your son is doing well. Always good to hear that part when it pertains to a boy with this disease.
That's great! Hang on to that. With your son doing so well, how did you come to know the diagnosis?
I try my best to allow my son to be a kid, but we do push him in school and just this year he started in a private school. Far more demanding than the public schools here where we liv e in VA. But last year, the school wanted Liam to get on their track for "gifted" kids. But the public school O.T. said to not do that because Liam didn't write fast enough. Well, goodbye public school. We remained at this public school because of the IEP and all that jazz. But in reality, you don't need to stay public. We live in Loudoun County in VA and the new private school is in Fairfax County. By law, Fairfax County public schools have to provide services to my son. And they do. Liam was getting physical therapy one a week while in public school, but was no longer going to be one the books for that because of how well he's doing. No so in Fairfax County. And while the private school doesn't provide therapy, they are bending over backwards for Liam. I didn't mean to get off on that tangent...sorry!
Is your son in 2nd or 3rd grade now?

Lori Ware said:
This is interesting. My son, age 7.5 has deletions at 46-50. He needs to skip 45 and 51, so exon skipping will be YEARS for us. But, as of now, he is doing exceptionally well. He has no waddle, he can run, jump, swim, climb a small climbing wall, hop on one foot...really just about anything any other boy can do, just not run as fast or be as strong. He does tire more easily, but Dr. Wong is now calling his progression mild, rather than average. I have never heard about osteopontin or it maybe being a geneitc modifier. I will certainly look into it.

I also have wondered what happened with the boys in MO...would be interesting to know.

Thanks!
Lori
Thanks for shedding some light on this for me. Every little thing helps!

Tina said:
Dr. Hoffman is looking into medications that may be able to reduce osteopontin levels. Certain statins might help achieve this process. Not sure where they are with this research so it would be good if you kept him posted on your son's status which may help expediate that research. Glad to hear your son is doing well. Always good to hear that part when it pertains to a boy with this disease.
We held our son back in pre-k as he is so small (result of steroids), so he is just in 1st grade. He did seem to have the DMD reading issue, but literally last week, at age 7.5...right on track....he figured it out and is now a 'beginning reader'.

irishgirl said:
That's great! Hang on to that. With your son doing so well, how did you come to know the diagnosis?
I try my best to allow my son to be a kid, but we do push him in school and just this year he started in a private school. Far more demanding than the public schools here where we liv e in VA. But last year, the school wanted Liam to get on their track for "gifted" kids. But the public school O.T. said to not do that because Liam didn't write fast enough. Well, goodbye public school. We remained at this public school because of the IEP and all that jazz. But in reality, you don't need to stay public. We live in Loudoun County in VA and the new private school is in Fairfax County. By law, Fairfax County public schools have to provide services to my son. And they do. Liam was getting physical therapy one a week while in public school, but was no longer going to be one the books for that because of how well he's doing. No so in Fairfax County. And while the private school doesn't provide therapy, they are bending over backwards for Liam. I didn't mean to get off on that tangent...sorry!
Is your son in 2nd or 3rd grade now?

Lori Ware said:
This is interesting. My son, age 7.5 has deletions at 46-50. He needs to skip 45 and 51, so exon skipping will be YEARS for us. But, as of now, he is doing exceptionally well. He has no waddle, he can run, jump, swim, climb a small climbing wall, hop on one foot...really just about anything any other boy can do, just not run as fast or be as strong. He does tire more easily, but Dr. Wong is now calling his progression mild, rather than average. I have never heard about osteopontin or it maybe being a geneitc modifier. I will certainly look into it.

I also have wondered what happened with the boys in MO...would be interesting to know.

Thanks!
Lori
I think Protandim does some of this, reduces osteopotin levels in some of the kids. Of course, no one knows the right dose to make a significant difference in the progression since there was no clinical trial...
Also, I guess that something inhibiting myostatin might make a difference in the boys doing so well (?).

Tina said:
Dr. Hoffman is looking into medications that may be able to reduce osteopontin levels. Certain statins might help achieve this process. Not sure where they are with this research so it would be good if you kept him posted on your son's status which may help expediate that research. Glad to hear your son is doing well. Always good to hear that part when it pertains to a boy with this disease.
Awesome! Funny how things just "click" at times. Just keep telling him how much fun reading is and how your imagination can really run wild when you read. One thing I noticed that helped kids with reading quite a bit - get the book and the book on tape or mp3 or on the computer. Listening and following along in a book is excellent. After all reading is mere repetition as is writing. Makes it a bit more fun as well. Now you can get just about any book on your public library's site.
Got any good tips for MATH??? Haha!

Lori Ware said:
We held our son back in pre-k as he is so small (result of steroids), so he is just in 1st grade. He did seem to have the DMD reading issue, but literally last week, at age 7.5...right on track....he figured it out and is now a 'beginning reader'.

irishgirl said:
That's great! Hang on to that. With your son doing so well, how did you come to know the diagnosis?
I try my best to allow my son to be a kid, but we do push him in school and just this year he started in a private school. Far more demanding than the public schools here where we liv e in VA. But last year, the school wanted Liam to get on their track for "gifted" kids. But the public school O.T. said to not do that because Liam didn't write fast enough. Well, goodbye public school. We remained at this public school because of the IEP and all that jazz. But in reality, you don't need to stay public. We live in Loudoun County in VA and the new private school is in Fairfax County. By law, Fairfax County public schools have to provide services to my son. And they do. Liam was getting physical therapy one a week while in public school, but was no longer going to be one the books for that because of how well he's doing. No so in Fairfax County. And while the private school doesn't provide therapy, they are bending over backwards for Liam. I didn't mean to get off on that tangent...sorry!
Is your son in 2nd or 3rd grade now?

Lori Ware said:
This is interesting. My son, age 7.5 has deletions at 46-50. He needs to skip 45 and 51, so exon skipping will be YEARS for us. But, as of now, he is doing exceptionally well. He has no waddle, he can run, jump, swim, climb a small climbing wall, hop on one foot...really just about anything any other boy can do, just not run as fast or be as strong. He does tire more easily, but Dr. Wong is now calling his progression mild, rather than average. I have never heard about osteopontin or it maybe being a geneitc modifier. I will certainly look into it.

I also have wondered what happened with the boys in MO...would be interesting to know.

Thanks!
Lori
You should never feel "bad, or anything" because your son is doing so well. I hope when my son is 10 (he's 18 months now and has a deletion in 49 and 50) I can share the same news. I feel encouraged (I know your sons situation is rare) that maybe my son will surprise everyone too. Bless you and your son. I'm thrilled to hear that he is doing so remarkably.

irishgirl said:
Terry:

Thanks!!! The last way I want to come across on this wonderful site is touting my own horn. I know the misery and longing associated with this horrible disease. I understand how people hold on to one thing for comfort. My son doing well is my vice. My best friend watches him in disbelief. Then I think about who would want to marry a man in a wheelchair? Will my son ever know love - like I do not only for him, but for my husband as well? I am so incredibly lucky to have my Liam, but I cannot imagine watching him decline and die. He means so much to me-so much! I do feel lucky that if my son has to have DMD, he's got the very best one to have with regards to the upcoming exon 51 skipping and by him doing so well.

Terry Porcaro said:
Your son sounds very much like the three brothers from O'Fallon, MO. All three are teenagers and from the last I heard do not display the typical signs of DMD. They are still walking and very much like your son. They were being tested to see why they were like this, but I don't know if the results of those tests were ever made public. Their father even quipped that they had the best worst luck around. Very interesting about the ostepontin being a modifier.

irishgirl said:
Atypical, meaning not following the usual DMD symptoms. My son will be 10 this November. He is very strong and completely ambulatory. He runs, jumps, rides horses, and swims. He does not fatigue easily. He is in the 4th grade and very bright. A few months ago, we had a biopsy performed to see if he had Becker or Duchenne. He's got DMD and is producing less than 1% dystrophin. Typically at this age, DMD boys do not run, although can still walk. They use aides to help with mobility. When our son was 7.5 a neurologist said he had motor apraxia and not to worry at all. Even he completely missed the MD. A year later, at the request of the school's PT who knew he did not have apraxia in any way, suggested we get a second opinion. Blood test revealed a high CK and further testing showed MD. Even our son's regular pediatrician saw no signs that would lean to MD. There has been some talk surrounding MD boys with deletions of exons 48, 49 and 50 (as in my son's case) doing better than the average DMD child, but not much is out to medically back that up. Within every scope of disease there are outliers and my son obviously has got something special going on here. His doctor mentioned the genes that regulate osteopontin as being a possible modifier - like natural exon skipping. I've not heard of this before, but I do know that Eric Hoffman at CNMC in DC is looking into this particular item. I was wondering if anyone out here knew about this.

Reply to Discussion

RSS

Need help using this community site? Visit Ning's Help Page.

Members

Events

© 2020   Created by PPMD.   Powered by

Badges  |  Report an Issue  |  Privacy Policy  |  Terms of Service