Genetic Modifiers
Does anyone know about genes that regulate osteopontin - as a possible genetic modifier for those DMD boys that are atypical?
Replies to This Discussion
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Permalink Reply by irishgirl on
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Melissa:
You just totally gave me the boost I needed to start my week off on the right foot. Thanks so much for you kind comment - I will take it to heart.
Wyatt's Mommy, Melissa said: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.
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Permalink Reply by Wyatt's Mommy, Melissa on
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I know the situation with your son is rare and unique, but if you don't mind me asking, I think I read it right he was 7 1/2 when he was diagnosed? What types of things have you done for him? Supplements, stretches, etc? I'm so encouraged by hearing your son's story. Thanks again for sharing it with us.
Melissa
irishgirl said:Melissa:
You just totally gave me the boost I needed to start my week off on the right foot. Thanks so much for you kind comment - I will take it to heart.
Wyatt's Mommy, Melissa said: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.
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Melissa:
Liam was actually diagnosed at age 8.5. During the end of his 1st grade year, we went to a BYOB - bring your own bike party with classmates. I noticed that we and only one other kid had training wheels. Liam was riding around though. My hubby and I thought he was a tad uncoordinated, so we went to a neurologist. MD obviously never crossed his mind as he told us Liam had motor apraxia. I could not find anything out about that really at all. The neurologist said Liam just needed to work out and work on balance issues. So, during his 2nd grade school year, we hired the PE teacher to give Liam extra workouts after school twice a week. It was great and Liam totally improved to having excellent balance - the PE teacher used the BOSU ball quite a bit. During that same year, we got picked up by the school because he was having trouble with his "r". The school systems physical therapist - at the end of the school year suggested we get a second opinion on the motor apraxia because they thought it was impossible for Liam to have that. So we did and on June 12, 2008 the sky went black and the MD diagnosis came down. The therapist and everyone else who say him thought no way could this kid have MD. But he did and I am a carrier. So, Liam and I do share that bond. Last winter, we had the biopsy performed to find out if Liam had Becker or Duchenne. We thought that if Liam had Becker that would be great and if he had Duchenne, he would be the perfect candidate for exon 51 skipping as he is missing exons 48, 49 and 50. Turned out Liam was producing less than 1% dystrophin - so DMD is the game here. But as we read the symptoms, Liam just did not fit and still doesn't fit. This entire disease is so crazy in how it manifests so differently in children. At age 10, Liam should not be running, but he is and he is strong. There is some genetic modifier going on here and I thank God for that. I am happy that if Liam had to get this horrid disease, he got the right deletions.
As he is not in 4th grade, people still look at him and see nothing wrong and forget he's got DMD. I do not know what's going on here, but he was never a floppy baby and reached all milestones as a baby in proper time. We walked at age 9 months, but held on. Now we just stretch him nightly - that's my hubby's job and we had an in ground pool built last summer here at home. He wears AFOs at least six nights per week. He takes horse back riding lessons weekly and swims. I try to get him to do some yoga with me as well. He is on Deflazacort. Prednisone made him absolutely insane. We give him Viactiv chews twice daily and 400mgs of Vitaline CoQ10 daily. That's about it. I do work hard to ensure he is a healthy eater. I do not want him to gain weight as extra fat can damage the muscle. I prefer him to get his vitamins the natural way. I complete exclude fast food of any kind from our diets and Liam eats lots of fish and organic produce. I also try to avoid anything processed including white flour. But sometimes you just gotta stuff your face with pizza!!! That's all we do. I do not know if the diet helps to hold off progression, but it works for us. Especially to just keep extra weight off.
Your son is young and time will tell how the disease progresses in him. How did you figure out he had this disease? The entire spectrum blows me away. Liam's doctor is in Geneva at the World Muscle Convention and emailed that he's got some interesting news to report to us when he gets back in the country later this week. When he shares with me - I'll share with you. I just try to do all I can to keep this disease at bay. Stretching is key. Swimming is most excellent and riding horses forces his heels down which is excellent for tight heel cords.
Please keep me up to date with your little guy as he's got a full life ahead of him. If our kids had to get this disease, it's at a great time and I fully believe that within the coming five years, the entire face of this disease will change with new treatments abound. So keep that little guy stretched because the world is brimming with new horizons. Of that, I am certain. Our kids have a good chance of getting into late adulthood - and beyond. So, with all that being said - I;m sure I've bored you to death - tell me all about your little guy - what are his favorite things to do????
Thanks for EVERYTHING!!!!!
Wyatt's Mommy, Melissa said:I know the situation with your son is rare and unique, but if you don't mind me asking, I think I read it right he was 7 1/2 when he was diagnosed? What types of things have you done for him? Supplements, stretches, etc? I'm so encouraged by hearing your son's story. Thanks again for sharing it with us.
Melissa
irishgirl said:Melissa:
You just totally gave me the boost I needed to start my week off on the right foot. Thanks so much for you kind comment - I will take it to heart.
Wyatt's Mommy, Melissa said: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.
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I can't believe that you and your husband had the foresight to take him to a neurologist, good for you. By age 8 1/2 I imagine DMD was the last thing on their minds. I bet the extra PE really helped. It couldn't hurt, right? Looking at him jumping into your pool, I never would have guessed it had DMD either. He looked like any other 10 year old boy. (I have a 10 year old w/o DMD and I could totally see him and Liam jumping in there together. He looks like one of my sons 10 year old buddies. I found out shortly after Wyatt's diagnosis that my mom, my 15 year old daughter, and I are all carriers as well. We didn't know there was a family history, but it looks like the girls in my family (which there are just a few) took the "HIT" so to speak for the DMD, I have tons of relatives who are boys, I have 3 other sons, and Wyatt is the only boy in my family to have DMD. It's nothing short of a miracle, if you ask me. What is a genetic modifier? Is that just something his body is doing to compensate for the missing dystrophin? Wyatt is also a canidate for exon skipping 51 (his deletion is 49 and 50). I think that exact same way, about having the "perfect" deletion. (realatively speaking!) Wyatt still doesn't walk without holding on, but he pushes whatever he can to get where he wants to go, chairs, toys, whatever. He crawled around 10 months, he is very petite for his age. He's the size of a 12 month old (he's almost 19 months), so the stuff he's doing right now (starting to talk, getting his first tooth, walking around more, using sign langauge) is very typical of a 12 month old. He just broke 21 pounds last week. Your pool is amazing by the way. Wyatt goes to physical thearpy to help get him caught up with other 18 month olds. He also swims in a Mommy and Me class. He is taking a multi vitamin and extra Vitamin D. But other than that he's not currently on any other suppliments. I'm sure that we may start those soon, but I don't know yet. He eats pretty much anything he wants. And I thnk him being little will help in the long run. He was born at home (accidently, delivered by a parameditics) but his muscle tone, color, ablitly to move were perfect. We went to see a GI doctor about Wyatt's failure to thrive. The dr. did a CK test, (out of the blue on a hunch) and that led us to months of genetics tests, biopsy and then DNA testing. I agree pizza is great!!!!! I think you are right, the next 5 years are going to tell alot. Yes, please let me know what your doctor has to say. I will let you know how Wyatt is doing I promise. Wyatt likes to play with his siblings, likes to play in the sandbox, loves to eat. Loves to turn off the TV when the other kids are waching it, then he laughs at them. And he really loves our cat. In fact he know goes around the house saying "kitty, kitty, kitty" it is adorable. I wasn't bored at all, I appreciate you taking the time to give me some information. Take care and I hope to talk with you again soon.
irishgirl said:Melissa:
Liam was actually diagnosed at age 8.5. During the end of his 1st grade year, we went to a BYOB - bring your own bike party with classmates. I noticed that we and only one other kid had training wheels. Liam was riding around though. My hubby and I thought he was a tad uncoordinated, so we went to a neurologist. MD obviously never crossed his mind as he told us Liam had motor apraxia. I could not find anything out about that really at all. The neurologist said Liam just needed to work out and work on balance issues. So, during his 2nd grade school year, we hired the PE teacher to give Liam extra workouts after school twice a week. It was great and Liam totally improved to having excellent balance - the PE teacher used the BOSU ball quite a bit. During that same year, we got picked up by the school because he was having trouble with his "r". The school systems physical therapist - at the end of the school year suggested we get a second opinion on the motor apraxia because they thought it was impossible for Liam to have that. So we did and on June 12, 2008 the sky went black and the MD diagnosis came down. The therapist and everyone else who say him thought no way could this kid have MD. But he did and I am a carrier. So, Liam and I do share that bond. Last winter, we had the biopsy performed to find out if Liam had Becker or Duchenne. We thought that if Liam had Becker that would be great and if he had Duchenne, he would be the perfect candidate for exon 51 skipping as he is missing exons 48, 49 and 50. Turned out Liam was producing less than 1% dystrophin - so DMD is the game here. But as we read the symptoms, Liam just did not fit and still doesn't fit. This entire disease is so crazy in how it manifests so differently in children. At age 10, Liam should not be running, but he is and he is strong. There is some genetic modifier going on here and I thank God for that. I am happy that if Liam had to get this horrid disease, he got the right deletions.
As he is not in 4th grade, people still look at him and see nothing wrong and forget he's got DMD. I do not know what's going on here, but he was never a floppy baby and reached all milestones as a baby in proper time. We walked at age 9 months, but held on. Now we just stretch him nightly - that's my hubby's job and we had an in ground pool built last summer here at home. He wears AFOs at least six nights per week. He takes horse back riding lessons weekly and swims. I try to get him to do some yoga with me as well. He is on Deflazacort. Prednisone made him absolutely insane. We give him Viactiv chews twice daily and 400mgs of Vitaline CoQ10 daily. That's about it. I do work hard to ensure he is a healthy eater. I do not want him to gain weight as extra fat can damage the muscle. I prefer him to get his vitamins the natural way. I complete exclude fast food of any kind from our diets and Liam eats lots of fish and organic produce. I also try to avoid anything processed including white flour. But sometimes you just gotta stuff your face with pizza!!! That's all we do. I do not know if the diet helps to hold off progression, but it works for us. Especially to just keep extra weight off.
Your son is young and time will tell how the disease progresses in him. How did you figure out he had this disease? The entire spectrum blows me away. Liam's doctor is in Geneva at the World Muscle Convention and emailed that he's got some interesting news to report to us when he gets back in the country later this week. When he shares with me - I'll share with you. I just try to do all I can to keep this disease at bay. Stretching is key. Swimming is most excellent and riding horses forces his heels down which is excellent for tight heel cords.
Please keep me up to date with your little guy as he's got a full life ahead of him. If our kids had to get this disease, it's at a great time and I fully believe that within the coming five years, the entire face of this disease will change with new treatments abound. So keep that little guy stretched because the world is brimming with new horizons. Of that, I am certain. Our kids have a good chance of getting into late adulthood - and beyond. So, with all that being said - I;m sure I've bored you to death - tell me all about your little guy - what are his favorite things to do????
Thanks for EVERYTHING!!!!!
Wyatt's Mommy, Melissa said:I know the situation with your son is rare and unique, but if you don't mind me asking, I think I read it right he was 7 1/2 when he was diagnosed? What types of things have you done for him? Supplements, stretches, etc? I'm so encouraged by hearing your son's story. Thanks again for sharing it with us.
Melissa
irishgirl said:Melissa:
You just totally gave me the boost I needed to start my week off on the right foot. Thanks so much for you kind comment - I will take it to heart.
Wyatt's Mommy, Melissa said: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.
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Melissa:
You've got a grand family. I'm so glad to hear that you've got a handful of other sons w/o MD. There was another woman on here with four sons - all with DMD. It;s bad enough having one, but all. Amazing mom. Wyatt sound sounds like Liam who also got the failure to thrive label, but after a few months of trying to pounds on Liam, a doctor looked down his throat and said Liam has kissing tonsils. We had them removed and he went right back on the growth charts after the surgery. No more questions were ever asked until much later on. Wyatt sound s very strong and funny. Let him know that Liam is part cat. Liam loves cats and has two of them. He is forever drawing them and calling himself Dr. Kitty. That is so funny! We have to allow our kids to be kids. Liam did start 4th grade at a private school this year - one that is farther away from home and far more demanding of his time. But, at this point, the school can;t seem to get things right - although they try. We are really thinking of sending him back to his public school because it's right across the street. It just hit me that school will be what we make of it. We are just so into the preservation mode now more than ever. No stairs in school although he flies up and down them. He was just out in the yard running with is dog for about 30 minutes. He was literally running all over and for that I am so happy. I'm glad Wyatt is on the way with exon 51 skipping. Liam;s doctor at Children's here in DC just got back from the World Muscle Conference in Europe and told us via email and he's got a bit to update us on this week. I will let you know all he's got to say. My hubby just booked a space at the Action Duchenne Conference in London next month as it's ALL about exon 51 skipping with the talks from the best experts in the field. This, we think, will be a wonderful education - so off Matt will go next month. Again, since you all are on the same page as us with the 51 skipping, all info we get, you'll get.
How are Wyatt's siblings taking his DMD? If I had a girl - a carrier, like I am as well, I would not worry in the least when it comes time for her to have children - if she decided to have kids. There are so many options right now - like the fact that the doctors have take out a few of her eggs, toss those MD ones and stick the good ones right back. It's amazing and when she is older, there will ever be tons more advances. Ones that don;t mess with Mother Nature, if you get me. I know of no one with and form of MD in my family, but then when I was a baby, no one really knew what MD was for that matter. I hope you never feel guilty about that business. I did for about a day or so when I first found out, but no one would knowingly give MD to anyone.
Let's keep our fingers crossed and as soon as I hear from Dr. Leshner, I'll pass that information along to you. We are strong and our boys deserve a fighting chance and with luck, they will have it.
Take care and give your Wyatt a perfecto squeeze from me. Talk to you soon!!! Noreen
Wyatt's Mommy, Melissa said:I can't believe that you and your husband had the foresight to take him to a neurologist, good for you. By age 8 1/2 I imagine DMD was the last thing on their minds. I bet the extra PE really helped. It couldn't hurt, right? Looking at him jumping into your pool, I never would have guessed it had DMD either. He looked like any other 10 year old boy. (I have a 10 year old w/o DMD and I could totally see him and Liam jumping in there together. He looks like one of my sons 10 year old buddies. I found out shortly after Wyatt's diagnosis that my mom, my 15 year old daughter, and I are all carriers as well. We didn't know there was a family history, but it looks like the girls in my family (which there are just a few) took the "HIT" so to speak for the DMD, I have tons of relatives who are boys, I have 3 other sons, and Wyatt is the only boy in my family to have DMD. It's nothing short of a miracle, if you ask me. What is a genetic modifier? Is that just something his body is doing to compensate for the missing dystrophin? Wyatt is also a canidate for exon skipping 51 (his deletion is 49 and 50). I think that exact same way, about having the "perfect" deletion. (realatively speaking!) Wyatt still doesn't walk without holding on, but he pushes whatever he can to get where he wants to go, chairs, toys, whatever. He crawled around 10 months, he is very petite for his age. He's the size of a 12 month old (he's almost 19 months), so the stuff he's doing right now (starting to talk, getting his first tooth, walking around more, using sign langauge) is very typical of a 12 month old. He just broke 21 pounds last week. Your pool is amazing by the way. Wyatt goes to physical thearpy to help get him caught up with other 18 month olds. He also swims in a Mommy and Me class. He is taking a multi vitamin and extra Vitamin D. But other than that he's not currently on any other suppliments. I'm sure that we may start those soon, but I don't know yet. He eats pretty much anything he wants. And I thnk him being little will help in the long run. He was born at home (accidently, delivered by a parameditics) but his muscle tone, color, ablitly to move were perfect. We went to see a GI doctor about Wyatt's failure to thrive. The dr. did a CK test, (out of the blue on a hunch) and that led us to months of genetics tests, biopsy and then DNA testing. I agree pizza is great!!!!! I think you are right, the next 5 years are going to tell alot. Yes, please let me know what your doctor has to say. I will let you know how Wyatt is doing I promise. Wyatt likes to play with his siblings, likes to play in the sandbox, loves to eat. Loves to turn off the TV when the other kids are waching it, then he laughs at them. And he really loves our cat. In fact he know goes around the house saying "kitty, kitty, kitty" it is adorable. I wasn't bored at all, I appreciate you taking the time to give me some information. Take care and I hope to talk with you again soon.
irishgirl said:Melissa:
Liam was actually diagnosed at age 8.5. During the end of his 1st grade year, we went to a BYOB - bring your own bike party with classmates. I noticed that we and only one other kid had training wheels. Liam was riding around though. My hubby and I thought he was a tad uncoordinated, so we went to a neurologist. MD obviously never crossed his mind as he told us Liam had motor apraxia. I could not find anything out about that really at all. The neurologist said Liam just needed to work out and work on balance issues. So, during his 2nd grade school year, we hired the PE teacher to give Liam extra workouts after school twice a week. It was great and Liam totally improved to having excellent balance - the PE teacher used the BOSU ball quite a bit. During that same year, we got picked up by the school because he was having trouble with his "r". The school systems physical therapist - at the end of the school year suggested we get a second opinion on the motor apraxia because they thought it was impossible for Liam to have that. So we did and on June 12, 2008 the sky went black and the MD diagnosis came down. The therapist and everyone else who say him thought no way could this kid have MD. But he did and I am a carrier. So, Liam and I do share that bond. Last winter, we had the biopsy performed to find out if Liam had Becker or Duchenne. We thought that if Liam had Becker that would be great and if he had Duchenne, he would be the perfect candidate for exon 51 skipping as he is missing exons 48, 49 and 50. Turned out Liam was producing less than 1% dystrophin - so DMD is the game here. But as we read the symptoms, Liam just did not fit and still doesn't fit. This entire disease is so crazy in how it manifests so differently in children. At age 10, Liam should not be running, but he is and he is strong. There is some genetic modifier going on here and I thank God for that. I am happy that if Liam had to get this horrid disease, he got the right deletions.
As he is not in 4th grade, people still look at him and see nothing wrong and forget he's got DMD. I do not know what's going on here, but he was never a floppy baby and reached all milestones as a baby in proper time. We walked at age 9 months, but held on. Now we just stretch him nightly - that's my hubby's job and we had an in ground pool built last summer here at home. He wears AFOs at least six nights per week. He takes horse back riding lessons weekly and swims. I try to get him to do some yoga with me as well. He is on Deflazacort. Prednisone made him absolutely insane. We give him Viactiv chews twice daily and 400mgs of Vitaline CoQ10 daily. That's about it. I do work hard to ensure he is a healthy eater. I do not want him to gain weight as extra fat can damage the muscle. I prefer him to get his vitamins the natural way. I complete exclude fast food of any kind from our diets and Liam eats lots of fish and organic produce. I also try to avoid anything processed including white flour. But sometimes you just gotta stuff your face with pizza!!! That's all we do. I do not know if the diet helps to hold off progression, but it works for us. Especially to just keep extra weight off.
Your son is young and time will tell how the disease progresses in him. How did you figure out he had this disease? The entire spectrum blows me away. Liam's doctor is in Geneva at the World Muscle Convention and emailed that he's got some interesting news to report to us when he gets back in the country later this week. When he shares with me - I'll share with you. I just try to do all I can to keep this disease at bay. Stretching is key. Swimming is most excellent and riding horses forces his heels down which is excellent for tight heel cords.
Please keep me up to date with your little guy as he's got a full life ahead of him. If our kids had to get this disease, it's at a great time and I fully believe that within the coming five years, the entire face of this disease will change with new treatments abound. So keep that little guy stretched because the world is brimming with new horizons. Of that, I am certain. Our kids have a good chance of getting into late adulthood - and beyond. So, with all that being said - I;m sure I've bored you to death - tell me all about your little guy - what are his favorite things to do????
Thanks for EVERYTHING!!!!!
Wyatt's Mommy, Melissa said:I know the situation with your son is rare and unique, but if you don't mind me asking, I think I read it right he was 7 1/2 when he was diagnosed? What types of things have you done for him? Supplements, stretches, etc? I'm so encouraged by hearing your son's story. Thanks again for sharing it with us.
Melissa
irishgirl said:Melissa:
You just totally gave me the boost I needed to start my week off on the right foot. Thanks so much for you kind comment - I will take it to heart.
Wyatt's Mommy, Melissa said: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.
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Noreen,
How are you? We are doing great, it's sunny outside and I had a quiet, relaxing day, my football team lost, but that's okay.
We feel extremely blessed that our other boys didn't get DMD too. I'm sure we would have made different decisions, if we had known before we had kids, of if one of my older boys got DMD first.. Then I likely wouldn't have my other 3 sweet boys and I can't imagine my life w/o them in it. I'll bet the gal with all her boys with DMD is an incredible woman.
I'm going to have my doctor look at his tonsils, just to be sure. He's had so many exams and tests, I'm sure they would have seen that, but you never know. He has put on weight recently, but he is still well below average. Wyatt is at that age where everything is new and exciting. He wants to explore this world and touch and sometimes taste it. Yuck!!!!
The cat we have, Tiger, hates all of us except Wyatt. He will let Wyatt pull his fur, lay on him, pull his tail, you name it, Tiger loves Wyatt. I don't want to put Wyatt in a bubble. I want to protect him of course, but I want him to have the same experiences as any other kid. He deserves that.
You're right, the school system does try, but as Moms if we tell the schools what we expect and don't except any less, then we will get out of the school what Liam and Wyatt deserve. Our school district does make every effort to help it's students, but they do fall short sometimes, and as long as I "keep an eye on them" then I know that all my kids, and especially my special needs kids will get an amazing education.
I can't wait to hear what your doctor has to say. Europe is beautiful, I'll move there? Hahahaha. I can't wait to hear about Matt's trip. This might be just the turning point that we need. I'm glad that the whole conference is about exon skipping 51, that's great. Yeah!!!! I appreciate you sending me all the information that Matt gets while he is goine. Knowledge is power and whatever we can learn will just help our babies.
My daugther is taking it the hardest I think, she's 15 and she knows that she is a carrier. So we had to tell her everything about the disease and what will be in store for Wyatt down the road. She was with us at his birth so she has a very special bond with him, she cried for about 4 days. My older sons are scared more than anything,. They don't have all the details, just the ones I thought they could handle. They love him dearly and love to spoil him. They do wrestle with him and don't treat him any differently than they did my 4 year old when he was Wyatt's age.
We told our daughter Leigha that when it's time to have a baby that we will support her emotionally and financially in whatever decision she makes, whether it is adoption or whatever medically can be done for a healthy baby. The DMD in our family stops with Wyatt. We feel lucky, in a way, to know now, that way our daughter can make informed decisions.
I can't wait to hear what your doctor has to say. Thanks again for sharing all your knowledge and everything that you will learn in the futrue. If we stand together, we will win the battle with DMD. Have a great week I look forward to hearing from you.
Melissa
irishgirl said:Melissa:
You've got a grand family. I'm so glad to hear that you've got a handful of other sons w/o MD. There was another woman on here with four sons - all with DMD. It;s bad enough having one, but all. Amazing mom. Wyatt sound sounds like Liam who also got the failure to thrive label, but after a few months of trying to pounds on Liam, a doctor looked down his throat and said Liam has kissing tonsils. We had them removed and he went right back on the growth charts after the surgery. No more questions were ever asked until much later on. Wyatt sound s very strong and funny. Let him know that Liam is part cat. Liam loves cats and has two of them. He is forever drawing them and calling himself Dr. Kitty. That is so funny! We have to allow our kids to be kids. Liam did start 4th grade at a private school this year - one that is farther away from home and far more demanding of his time. But, at this point, the school can;t seem to get things right - although they try. We are really thinking of sending him back to his public school because it's right across the street. It just hit me that school will be what we make of it. We are just so into the preservation mode now more than ever. No stairs in school although he flies up and down them. He was just out in the yard running with is dog for about 30 minutes. He was literally running all over and for that I am so happy. I'm glad Wyatt is on the way with exon 51 skipping. Liam;s doctor at Children's here in DC just got back from the World Muscle Conference in Europe and told us via email and he's got a bit to update us on this week. I will let you know all he's got to say. My hubby just booked a space at the Action Duchenne Conference in London next month as it's ALL about exon 51 skipping with the talks from the best experts in the field. This, we think, will be a wonderful education - so off Matt will go next month. Again, since you all are on the same page as us with the 51 skipping, all info we get, you'll get.
How are Wyatt's siblings taking his DMD? If I had a girl - a carrier, like I am as well, I would not worry in the least when it comes time for her to have children - if she decided to have kids. There are so many options right now - like the fact that the doctors have take out a few of her eggs, toss those MD ones and stick the good ones right back. It's amazing and when she is older, there will ever be tons more advances. Ones that don;t mess with Mother Nature, if you get me. I know of no one with and form of MD in my family, but then when I was a baby, no one really knew what MD was for that matter. I hope you never feel guilty about that business. I did for about a day or so when I first found out, but no one would knowingly give MD to anyone.
Let's keep our fingers crossed and as soon as I hear from Dr. Leshner, I'll pass that information along to you. We are strong and our boys deserve a fighting chance and with luck, they will have it.
Take care and give your Wyatt a perfecto squeeze from me. Talk to you soon!!! Noreen
Wyatt's Mommy, Melissa said:I can't believe that you and your husband had the foresight to take him to a neurologist, good for you. By age 8 1/2 I imagine DMD was the last thing on their minds. I bet the extra PE really helped. It couldn't hurt, right? Looking at him jumping into your pool, I never would have guessed it had DMD either. He looked like any other 10 year old boy. (I have a 10 year old w/o DMD and I could totally see him and Liam jumping in there together. He looks like one of my sons 10 year old buddies. I found out shortly after Wyatt's diagnosis that my mom, my 15 year old daughter, and I are all carriers as well. We didn't know there was a family history, but it looks like the girls in my family (which there are just a few) took the "HIT" so to speak for the DMD, I have tons of relatives who are boys, I have 3 other sons, and Wyatt is the only boy in my family to have DMD. It's nothing short of a miracle, if you ask me. What is a genetic modifier? Is that just something his body is doing to compensate for the missing dystrophin? Wyatt is also a canidate for exon skipping 51 (his deletion is 49 and 50). I think that exact same way, about having the "perfect" deletion. (realatively speaking!) Wyatt still doesn't walk without holding on, but he pushes whatever he can to get where he wants to go, chairs, toys, whatever. He crawled around 10 months, he is very petite for his age. He's the size of a 12 month old (he's almost 19 months), so the stuff he's doing right now (starting to talk, getting his first tooth, walking around more, using sign langauge) is very typical of a 12 month old. He just broke 21 pounds last week. Your pool is amazing by the way. Wyatt goes to physical thearpy to help get him caught up with other 18 month olds. He also swims in a Mommy and Me class. He is taking a multi vitamin and extra Vitamin D. But other than that he's not currently on any other suppliments. I'm sure that we may start those soon, but I don't know yet. He eats pretty much anything he wants. And I thnk him being little will help in the long run. He was born at home (accidently, delivered by a parameditics) but his muscle tone, color, ablitly to move were perfect. We went to see a GI doctor about Wyatt's failure to thrive. The dr. did a CK test, (out of the blue on a hunch) and that led us to months of genetics tests, biopsy and then DNA testing. I agree pizza is great!!!!! I think you are right, the next 5 years are going to tell alot. Yes, please let me know what your doctor has to say. I will let you know how Wyatt is doing I promise. Wyatt likes to play with his siblings, likes to play in the sandbox, loves to eat. Loves to turn off the TV when the other kids are waching it, then he laughs at them. And he really loves our cat. In fact he know goes around the house saying "kitty, kitty, kitty" it is adorable. I wasn't bored at all, I appreciate you taking the time to give me some information. Take care and I hope to talk with you again soon.
irishgirl said:Melissa:
Liam was actually diagnosed at age 8.5. During the end of his 1st grade year, we went to a BYOB - bring your own bike party with classmates. I noticed that we and only one other kid had training wheels. Liam was riding around though. My hubby and I thought he was a tad uncoordinated, so we went to a neurologist. MD obviously never crossed his mind as he told us Liam had motor apraxia. I could not find anything out about that really at all. The neurologist said Liam just needed to work out and work on balance issues. So, during his 2nd grade school year, we hired the PE teacher to give Liam extra workouts after school twice a week. It was great and Liam totally improved to having excellent balance - the PE teacher used the BOSU ball quite a bit. During that same year, we got picked up by the school because he was having trouble with his "r". The school systems physical therapist - at the end of the school year suggested we get a second opinion on the motor apraxia because they thought it was impossible for Liam to have that. So we did and on June 12, 2008 the sky went black and the MD diagnosis came down. The therapist and everyone else who say him thought no way could this kid have MD. But he did and I am a carrier. So, Liam and I do share that bond. Last winter, we had the biopsy performed to find out if Liam had Becker or Duchenne. We thought that if Liam had Becker that would be great and if he had Duchenne, he would be the perfect candidate for exon 51 skipping as he is missing exons 48, 49 and 50. Turned out Liam was producing less than 1% dystrophin - so DMD is the game here. But as we read the symptoms, Liam just did not fit and still doesn't fit. This entire disease is so crazy in how it manifests so differently in children. At age 10, Liam should not be running, but he is and he is strong. There is some genetic modifier going on here and I thank God for that. I am happy that if Liam had to get this horrid disease, he got the right deletions.
As he is not in 4th grade, people still look at him and see nothing wrong and forget he's got DMD. I do not know what's going on here, but he was never a floppy baby and reached all milestones as a baby in proper time. We walked at age 9 months, but held on. Now we just stretch him nightly - that's my hubby's job and we had an in ground pool built last summer here at home. He wears AFOs at least six nights per week. He takes horse back riding lessons weekly and swims. I try to get him to do some yoga with me as well. He is on Deflazacort. Prednisone made him absolutely insane. We give him Viactiv chews twice daily and 400mgs of Vitaline CoQ10 daily. That's about it. I do work hard to ensure he is a healthy eater. I do not want him to gain weight as extra fat can damage the muscle. I prefer him to get his vitamins the natural way. I complete exclude fast food of any kind from our diets and Liam eats lots of fish and organic produce. I also try to avoid anything processed including white flour. But sometimes you just gotta stuff your face with pizza!!! That's all we do. I do not know if the diet helps to hold off progression, but it works for us. Especially to just keep extra weight off.
Your son is young and time will tell how the disease progresses in him. How did you figure out he had this disease? The entire spectrum blows me away. Liam's doctor is in Geneva at the World Muscle Convention and emailed that he's got some interesting news to report to us when he gets back in the country later this week. When he shares with me - I'll share with you. I just try to do all I can to keep this disease at bay. Stretching is key. Swimming is most excellent and riding horses forces his heels down which is excellent for tight heel cords.
Please keep me up to date with your little guy as he's got a full life ahead of him. If our kids had to get this disease, it's at a great time and I fully believe that within the coming five years, the entire face of this disease will change with new treatments abound. So keep that little guy stretched because the world is brimming with new horizons. Of that, I am certain. Our kids have a good chance of getting into late adulthood - and beyond. So, with all that being said - I;m sure I've bored you to death - tell me all about your little guy - what are his favorite things to do????
Thanks for EVERYTHING!!!!!
Wyatt's Mommy, Melissa said:I know the situation with your son is rare and unique, but if you don't mind me asking, I think I read it right he was 7 1/2 when he was diagnosed? What types of things have you done for him? Supplements, stretches, etc? I'm so encouraged by hearing your son's story. Thanks again for sharing it with us.
Melissa
irishgirl said:Melissa:
You just totally gave me the boost I needed to start my week off on the right foot. Thanks so much for you kind comment - I will take it to heart.
Wyatt's Mommy, Melissa said: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.
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Hi Ana:
Dr. Leshner did call at about 6:20 last night. Nothing earth shattering, but he was very, very hopeful with both waves that Prosensa and AVI are making with their drugs and exon 51 skipping. He feels certain that not only will this extend the Life of Liam and others who will benefit from exon 51 skipping for quite some time, but will also clear the path for all DMD children. Now, skipping more than one exon is still farther down the road, but he reiterated once again that in five years, things will be totally different. Last year Eric Hoffman told us to avoid Prosensa trails due to the fact that they were using an older drug, but they somehow changed the sugars in it, among other things, and are starting to deliver it subcutaneously at very high doses - higher than AVI at this time. Nothing has been shown to be toxic at this point and the higher the dose, the stronger the results. AVI is doing the IV delivery. Subcutaneous delivery gets to all parts of the body as well.
He also mentioned Dr. Mendell in Ohio, I think - who is calling for candidates who can possibly be helped by skipping exon 51. It will be a safety study. We already knew this, but this may come to fruition before the close on 2010. That study will not just be taking candidates from Ohio only.
Dr. Leshner added to be mindful of past trial exclusionary criteria including any sort of cognitive problems, behavioral issues, age, previous trial inclusion. This trial is for safety only and so far, both drugs are effective and safe.
In closing, Leshner said this is the most promising treatment he's ever realized.
Oh, on the funny side - at the Dining Away Duchenne fundraiser Tuesday evening, my hubby and a friend of mine were the high bidders for a boat ride along the Potomac River - captained by none other than Eric Hoffman himself. His folks passed away a few years ago and left him this sailboat. He has fixed it up and it is now sea worthy. WHat a great time to hit him up for information, eh??!!!!!
Wyatt's Mommy, Melissa said:Noreen,
How are you? We are doing great, it's sunny outside and I had a quiet, relaxing day, my football team lost, but that's okay.
We feel extremely blessed that our other boys didn't get DMD too. I'm sure we would have made different decisions, if we had known before we had kids, of if one of my older boys got DMD first.. Then I likely wouldn't have my other 3 sweet boys and I can't imagine my life w/o them in it. I'll bet the gal with all her boys with DMD is an incredible woman.
I'm going to have my doctor look at his tonsils, just to be sure. He's had so many exams and tests, I'm sure they would have seen that, but you never know. He has put on weight recently, but he is still well below average. Wyatt is at that age where everything is new and exciting. He wants to explore this world and touch and sometimes taste it. Yuck!!!!
The cat we have, Tiger, hates all of us except Wyatt. He will let Wyatt pull his fur, lay on him, pull his tail, you name it, Tiger loves Wyatt. I don't want to put Wyatt in a bubble. I want to protect him of course, but I want him to have the same experiences as any other kid. He deserves that.
You're right, the school system does try, but as Moms if we tell the schools what we expect and don't except any less, then we will get out of the school what Liam and Wyatt deserve. Our school district does make every effort to help it's students, but they do fall short sometimes, and as long as I "keep an eye on them" then I know that all my kids, and especially my special needs kids will get an amazing education.
I can't wait to hear what your doctor has to say. Europe is beautiful, I'll move there? Hahahaha. I can't wait to hear about Matt's trip. This might be just the turning point that we need. I'm glad that the whole conference is about exon skipping 51, that's great. Yeah!!!! I appreciate you sending me all the information that Matt gets while he is goine. Knowledge is power and whatever we can learn will just help our babies.
My daugther is taking it the hardest I think, she's 15 and she knows that she is a carrier. So we had to tell her everything about the disease and what will be in store for Wyatt down the road. She was with us at his birth so she has a very special bond with him, she cried for about 4 days. My older sons are scared more than anything,. They don't have all the details, just the ones I thought they could handle. They love him dearly and love to spoil him. They do wrestle with him and don't treat him any differently than they did my 4 year old when he was Wyatt's age.
We told our daughter Leigha that when it's time to have a baby that we will support her emotionally and financially in whatever decision she makes, whether it is adoption or whatever medically can be done for a healthy baby. The DMD in our family stops with Wyatt. We feel lucky, in a way, to know now, that way our daughter can make informed decisions.
I can't wait to hear what your doctor has to say. Thanks again for sharing all your knowledge and everything that you will learn in the futrue. If we stand together, we will win the battle with DMD. Have a great week I look forward to hearing from you.
Melissa
irishgirl said:Melissa:
You've got a grand family. I'm so glad to hear that you've got a handful of other sons w/o MD. There was another woman on here with four sons - all with DMD. It;s bad enough having one, but all. Amazing mom. Wyatt sound sounds like Liam who also got the failure to thrive label, but after a few months of trying to pounds on Liam, a doctor looked down his throat and said Liam has kissing tonsils. We had them removed and he went right back on the growth charts after the surgery. No more questions were ever asked until much later on. Wyatt sound s very strong and funny. Let him know that Liam is part cat. Liam loves cats and has two of them. He is forever drawing them and calling himself Dr. Kitty. That is so funny! We have to allow our kids to be kids. Liam did start 4th grade at a private school this year - one that is farther away from home and far more demanding of his time. But, at this point, the school can;t seem to get things right - although they try. We are really thinking of sending him back to his public school because it's right across the street. It just hit me that school will be what we make of it. We are just so into the preservation mode now more than ever. No stairs in school although he flies up and down them. He was just out in the yard running with is dog for about 30 minutes. He was literally running all over and for that I am so happy. I'm glad Wyatt is on the way with exon 51 skipping. Liam;s doctor at Children's here in DC just got back from the World Muscle Conference in Europe and told us via email and he's got a bit to update us on this week. I will let you know all he's got to say. My hubby just booked a space at the Action Duchenne Conference in London next month as it's ALL about exon 51 skipping with the talks from the best experts in the field. This, we think, will be a wonderful education - so off Matt will go next month. Again, since you all are on the same page as us with the 51 skipping, all info we get, you'll get.
How are Wyatt's siblings taking his DMD? If I had a girl - a carrier, like I am as well, I would not worry in the least when it comes time for her to have children - if she decided to have kids. There are so many options right now - like the fact that the doctors have take out a few of her eggs, toss those MD ones and stick the good ones right back. It's amazing and when she is older, there will ever be tons more advances. Ones that don;t mess with Mother Nature, if you get me. I know of no one with and form of MD in my family, but then when I was a baby, no one really knew what MD was for that matter. I hope you never feel guilty about that business. I did for about a day or so when I first found out, but no one would knowingly give MD to anyone.
Let's keep our fingers crossed and as soon as I hear from Dr. Leshner, I'll pass that information along to you. We are strong and our boys deserve a fighting chance and with luck, they will have it.
Take care and give your Wyatt a perfecto squeeze from me. Talk to you soon!!! Noreen
Wyatt's Mommy, Melissa said:I can't believe that you and your husband had the foresight to take him to a neurologist, good for you. By age 8 1/2 I imagine DMD was the last thing on their minds. I bet the extra PE really helped. It couldn't hurt, right? Looking at him jumping into your pool, I never would have guessed it had DMD either. He looked like any other 10 year old boy. (I have a 10 year old w/o DMD and I could totally see him and Liam jumping in there together. He looks like one of my sons 10 year old buddies. I found out shortly after Wyatt's diagnosis that my mom, my 15 year old daughter, and I are all carriers as well. We didn't know there was a family history, but it looks like the girls in my family (which there are just a few) took the "HIT" so to speak for the DMD, I have tons of relatives who are boys, I have 3 other sons, and Wyatt is the only boy in my family to have DMD. It's nothing short of a miracle, if you ask me. What is a genetic modifier? Is that just something his body is doing to compensate for the missing dystrophin? Wyatt is also a canidate for exon skipping 51 (his deletion is 49 and 50). I think that exact same way, about having the "perfect" deletion. (realatively speaking!) Wyatt still doesn't walk without holding on, but he pushes whatever he can to get where he wants to go, chairs, toys, whatever. He crawled around 10 months, he is very petite for his age. He's the size of a 12 month old (he's almost 19 months), so the stuff he's doing right now (starting to talk, getting his first tooth, walking around more, using sign langauge) is very typical of a 12 month old. He just broke 21 pounds last week. Your pool is amazing by the way. Wyatt goes to physical thearpy to help get him caught up with other 18 month olds. He also swims in a Mommy and Me class. He is taking a multi vitamin and extra Vitamin D. But other than that he's not currently on any other suppliments. I'm sure that we may start those soon, but I don't know yet. He eats pretty much anything he wants. And I thnk him being little will help in the long run. He was born at home (accidently, delivered by a parameditics) but his muscle tone, color, ablitly to move were perfect. We went to see a GI doctor about Wyatt's failure to thrive. The dr. did a CK test, (out of the blue on a hunch) and that led us to months of genetics tests, biopsy and then DNA testing. I agree pizza is great!!!!! I think you are right, the next 5 years are going to tell alot. Yes, please let me know what your doctor has to say. I will let you know how Wyatt is doing I promise. Wyatt likes to play with his siblings, likes to play in the sandbox, loves to eat. Loves to turn off the TV when the other kids are waching it, then he laughs at them. And he really loves our cat. In fact he know goes around the house saying "kitty, kitty, kitty" it is adorable. I wasn't bored at all, I appreciate you taking the time to give me some information. Take care and I hope to talk with you again soon.
irishgirl said:Melissa:
Liam was actually diagnosed at age 8.5. During the end of his 1st grade year, we went to a BYOB - bring your own bike party with classmates. I noticed that we and only one other kid had training wheels. Liam was riding around though. My hubby and I thought he was a tad uncoordinated, so we went to a neurologist. MD obviously never crossed his mind as he told us Liam had motor apraxia. I could not find anything out about that really at all. The neurologist said Liam just needed to work out and work on balance issues. So, during his 2nd grade school year, we hired the PE teacher to give Liam extra workouts after school twice a week. It was great and Liam totally improved to having excellent balance - the PE teacher used the BOSU ball quite a bit. During that same year, we got picked up by the school because he was having trouble with his "r". The school systems physical therapist - at the end of the school year suggested we get a second opinion on the motor apraxia because they thought it was impossible for Liam to have that. So we did and on June 12, 2008 the sky went black and the MD diagnosis came down. The therapist and everyone else who say him thought no way could this kid have MD. But he did and I am a carrier. So, Liam and I do share that bond. Last winter, we had the biopsy performed to find out if Liam had Becker or Duchenne. We thought that if Liam had Becker that would be great and if he had Duchenne, he would be the perfect candidate for exon 51 skipping as he is missing exons 48, 49 and 50. Turned out Liam was producing less than 1% dystrophin - so DMD is the game here. But as we read the symptoms, Liam just did not fit and still doesn't fit. This entire disease is so crazy in how it manifests so differently in children. At age 10, Liam should not be running, but he is and he is strong. There is some genetic modifier going on here and I thank God for that. I am happy that if Liam had to get this horrid disease, he got the right deletions.
As he is not in 4th grade, people still look at him and see nothing wrong and forget he's got DMD. I do not know what's going on here, but he was never a floppy baby and reached all milestones as a baby in proper time. We walked at age 9 months, but held on. Now we just stretch him nightly - that's my hubby's job and we had an in ground pool built last summer here at home. He wears AFOs at least six nights per week. He takes horse back riding lessons weekly and swims. I try to get him to do some yoga with me as well. He is on Deflazacort. Prednisone made him absolutely insane. We give him Viactiv chews twice daily and 400mgs of Vitaline CoQ10 daily. That's about it. I do work hard to ensure he is a healthy eater. I do not want him to gain weight as extra fat can damage the muscle. I prefer him to get his vitamins the natural way. I complete exclude fast food of any kind from our diets and Liam eats lots of fish and organic produce. I also try to avoid anything processed including white flour. But sometimes you just gotta stuff your face with pizza!!! That's all we do. I do not know if the diet helps to hold off progression, but it works for us. Especially to just keep extra weight off.
Your son is young and time will tell how the disease progresses in him. How did you figure out he had this disease? The entire spectrum blows me away. Liam's doctor is in Geneva at the World Muscle Convention and emailed that he's got some interesting news to report to us when he gets back in the country later this week. When he shares with me - I'll share with you. I just try to do all I can to keep this disease at bay. Stretching is key. Swimming is most excellent and riding horses forces his heels down which is excellent for tight heel cords.
Please keep me up to date with your little guy as he's got a full life ahead of him. If our kids had to get this disease, it's at a great time and I fully believe that within the coming five years, the entire face of this disease will change with new treatments abound. So keep that little guy stretched because the world is brimming with new horizons. Of that, I am certain. Our kids have a good chance of getting into late adulthood - and beyond. So, with all that being said - I;m sure I've bored you to death - tell me all about your little guy - what are his favorite things to do????
Thanks for EVERYTHING!!!!!
Wyatt's Mommy, Melissa said:I know the situation with your son is rare and unique, but if you don't mind me asking, I think I read it right he was 7 1/2 when he was diagnosed? What types of things have you done for him? Supplements, stretches, etc? I'm so encouraged by hearing your son's story. Thanks again for sharing it with us.
Melissa
irishgirl said:Melissa:
You just totally gave me the boost I needed to start my week off on the right foot. Thanks so much for you kind comment - I will take it to heart.
Wyatt's Mommy, Melissa said: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.
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Ana:
One more thing I forgot to mention. Action Duchenne will be having a conference next month in London. It's all about exon 51 skipping. Dr. Leshner said this is one not to miss so Matt, my hubby, will be going. The key players in the exon 51 skipping will all be there. That promises to be very informative and will not just be for the European set. I think this will be the place to get the best up to date information. Hummm...........
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Permalink Reply by Tina on
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Hi there Irishgirl,
Just wanna let you know that I got to meet your husband at the Dining Away Duchenne event. Carolyn introduced him to me. Very nice man. And, Carolyn was telling me about the boat ride. That's fantastic! I invited your husband to our FED fundraiser event in November. Carolyn said she would talk to you about it. I'm hoping I can get the DC crew to come up, they have all been invited. It would give you a chance to get out of the house, relax, and talk with Eric, Ragu, Toshi, etc... It's also the w/e of the CINRG conference (ugh, bad timing for us - won't we be a sight to look at the next morning) so it sounds like they'll all want to escape a few hours and head north a bit after Friday's conference. Let me know. The info is on Mark's website. We would love to have you.
http://www.markcarson.us
Tina
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Hi Jenn: You know, that is one of the worst things about this crappy disease. You can never know or predict how it will progress in each child. For Max, you don't know how he will be when he's 11. I don't know how my Liam will be when he's 11. It just cannot be explained. Science is not exact - nor are diseases for that matter. All we can do is watch, stretch, watch, worry, stretch, worry, wait, worry, stretch, worry, wait and so on!!! It stinks in every way imaginable. I had to care for my dying parents who passed nearly three years ago - then I got the news that Liam had MD. Parents grow old and die - it's expected, but not our children. I cannot imagine my world without Liam, but I would miss out on so very much if he were never born. Our boys can only exist in this world with MD. As much as it hurts, I can't say enough how I'd do it all over again. Occasionally, I look at the symptoms and wonder why I have a child producing less than 1% dystrophin who is still completely mobile at age 10 (Liam will be 10 n Nov.) They I read about those who have children at age 8 needing wheelchairs. I am now far more vigilant with Liam - especially with eccentric and resistive movements and activities. Although he can easily fly up and down a staircase, I ask him to come down on his bottom instead of walking down. Going up is OK. No climbing walls or such movements. I know that Liam can still do these types of activities, I am very into getting his DMD progression to slow down as much as I can. I'm sure if all we do helps, but it sure can't hurt. I must keep him slim as well for as long as I can.
I cannot imagine your two boys with the disease. It breaks my heart, but there is hope and it's coming sooner than we think.
jenn said:I stumbled on this discussion and wanted to share our story. We have austin, who will be 11 in dec, and max who will be 8 in jan. I am not a carrier, and both boys have a deletion of 52. They could not be different in terms of progression though. Austin is progressing typically, uses a power scooter, but still walks some. Max has yet to show signs of dmd. He was diagnosed in infancy only because we had him tested to "rule out" dmd given that his brother had it. He is small, is on deflazacort, and has slightly large calves. He never showed gowers, toe walking or fatigue. We do use a stroller, but I suspect he only uses it because we starting providing it based on our assumption that he would need it. He keeps up with everyone his age, hiking, jumping with both feet etc. He is also very lean, and flexible. We are happy with his lack of progression, but it is so hard to watch austin struggle, while max appears so normal. I have often wondered why they have exactly the same deletion, and such different progression.
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Tina:
I'm sorry to have missed the event, but I have this crummy sinus/cold stuff lingering. Carolyn has told me lots about you and I know someday we will meet - possibly this November. Matt put the November event on our calender already. I can't tell you the number of times we crossed the Tidings bridge on out way to our beach house is OC, NJ. I always thought that area would be an amazing place to live. Anyhoo, are you the one with the kids at private (Catholic) school? Liam just started this year and I'm sick about it - I think that is why I've been so sick with this cold crap. The day he started, I got sick. I've not been sick in four years. Liam really enjoys the school and we sent him to this school for a better education. He loves Religion and just joined the band. But I get sick every time I have to drop him off at this school. Then I realized that I don't dislike the school, I cannot stand having Liam that far away from me. Our public school is literally a 60 second drive from our house. I trusted the staff at the public school with Liam and caring for him. I trusted them. I do not trust the staff at this new school. Not in the general sense, but in the sense that they just don;t get what's going on. I doubt they ever had a DMD kid in the school ever. St. V's is only 5 years old. They have an elevator, but they said in the beginning that Liam would need to be escorted on the elevator and I said fine with that, but are they going to escort him throughout the day as well? FInally, they realized that Liam is a very good kid and can ride the elevator when needed by himself. But after a staff email went out stating Liam would be using the elevator at all times, the frickin nurse - one morning - told Liam he could not use the elevator. So, Liam lugged his rolling backpack with hardcover textbooks up the double staircase. I know Liam must learn to become his own advocate away from home, but he's a good boy and will not talk back to an adult. The next week, the school secretary started walking Liam up the staircase - with Liam lugging up his bag. She knows better. I caught them just before they ascended the staircase and I really scolded Liam in front of her. I told him to NEVER take the stairs and to always use the elevator. But I could have poked this woman in the eye I was so pissed off. You don't forget and I'm sorry will not help my kid's muscles. I just don't feel like I can trust them with Liam. They look at him and think nothing is wrong. He's in 4th grade and will be 10 in a month and a half. They are the ones I need to be upset with because Liam is a good boy. One more thing - at the open house right before actual school began, Liam's teacher said she would not be giving much long writing homework. I understand he must show his work in math and various other subjects, but you would not believe the amount of written work she gives for homework. Let alone the writing he does in school. Liam's thumbs get tired and if he is asked to write 20 sentences, it would take an hour. So, we have been slowly working with Liam in typing and his teacher said she's got an Alpha Smart for him to use. Liam has never seen or touched one yet although she says she's got it. She did give him a typing test and reported that he types slowly. Well duh!!!!! Teach him to type then. OK am I totally over the top here? I just don't feel the trust and then drive myself insane with worry while he is at school. Please don't hate me but just one more thing... Today is the first day of band for Liam. He signed up to play the drums in the school and. His drum - in a rolling pack - must weigh about 30 pounds and he needed to bring it to school today. That and his backpack are both on wheels, but you can imagine the weight. To get to practice, Liam goes down the elevator, across the church to another elevator which is locked. He needs to be on that elevator - the locked one. I purposely did not call to remind everyone that Liam must take the elevator. I did tell Liam to not take the stairs with his drum no matter what. So, I'm seeing if Liam can hold his own and if the school can do their part. I just cannot take the stress and worry of having him at this school - this far away school. So, I think Matt and I will send him back to our public school - to make me feel better. Is this the wrong thing to do? I don't know. Good think I was not there Tuesday - I'd be crying on your shoulder.
I'm not generally like this, but I;m dreading the conference with the teacher this afternoon. I hope to keep it together.
Matt says HI, by the way. I;m so glad he was able to go with Carolyn and meet you. I will soon!!!!!!!
Noreen
Tina said:Hi there Irishgirl,
Just wanna let you know that I got to meet your husband at the Dining Away Duchenne event. Carolyn introduced him to me. Very nice man. And, Carolyn was telling me about the boat ride. That's fantastic! I invited your husband to our FED fundraiser event in November. Carolyn said she would talk to you about it. I'm hoping I can get the DC crew to come up, they have all been invited. It would give you a chance to get out of the house, relax, and talk with Eric, Ragu, Toshi, etc... It's also the w/e of the CINRG conference (ugh, bad timing for us - won't we be a sight to look at the next morning) so it sounds like they'll all want to escape a few hours and head north a bit after Friday's conference. Let me know. The info is on Mark's website. We would love to have you.
http://www.markcarson.us
Tina
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Noreen, how are you? How is Liam? I've seen some encouraging posts on PPMD in the last few days. Your husband went to London right? How was that? I'll bet he learned so much. Wyatt started walking 2 days ago! He's 20 months now. Everyone told us that he would walk, but we were still worried. I hope that everything is going great for you guys. Take Care.
Melissa
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