Son, 2, just got diagnosed 5 days ago. Need support!

Hello! 

My son will be 2 in Dec. He just got diagnosed 5 days ago. I am sure you all know how I feel. My heart is breaking. What was supposed to be a  routine blood test turned into a horror story. his CK levels are 31,400. He has a nonsense point mutation on exon 25 which is in-frame exon. We weren't given much information at the Dr's office, so my knowledge is still new. All I know is based on my research for the last 5 days. Is anyone of you think that he might have Becker instead of Duchenne? Do you think he might have some dystrophin in his body? I think that the DMD diagnosis was based on his high CK levels only. He doesn't have any symptoms yet. Do you think we should start PT or take any supplements? We were told  just to wait until he is 4-5 to start steriods. I am thinking, what's the point of early diagnosis if we have to wait 3 more years and don't do anything about it? 

Thanks in advance!

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Jason, your son sounds very similar to mine. He is 5 and doesn't really have any obvious symptoms. He has a bit of an awkward run, but even that has improved and now he's just a bit slower than his peers. He met all his milestones on time, although walked at 17.5 months so a tad later. He jumps and can do stairs easily, although he often doesn't alternate feet going down. He was diagnosed with a nonsense mutation in exon 31, but his clinical presentation is considered normal at this time, so he has been diagnosed with Becker. I've read that clinical presentation is more important than any test results so that is definitely reassuring. My other son (also suspected to have the same mutation) turned 2 in September and met all his milestones on time as well, walked at 13 months and is very physically active...he runs and has no symptoms as of yet so we are trying to remain hopeful until our visit to Columbus, OH next month. I recently learned I am a carrier. Both of my boys had relatively low ck levels, but I've seen so many variations of ck in relation to both Duchenne & Becker. One thing I've learned is there are so many different mutations out there and nonsense mutation related Becker is very rare..like only 5% of cases with nonsense mutations are diagnosed as Becker...but the promising news is all the medical breakthroughs and medications are geared toward nonsense mutation so I'm confident that soon we will have something that will definitely help our boys!!

Jason Miller said:

Hi Hope!  I sent you a friend request so feel free to message me.  No need to be sorry for sharing so much information.  The more I know the better. I've researched these mutations too and actually hope that once we do find out that it's one that has a medication that is in the works for being approved.  My son's CK levels were 44K but the more I read, the more I'm seeing that the number doesn't always correlate with DMD or BMD. Jacob never had missed milestones and runs with a normal gate and walk.  His issues have always been he never could jump well or run as fast as other kids but then over the last year just goes up the stairs slower.  There's so much I'm hoping for but won't be able to tell anything until the tests are done.  I think they started off with the first test because of the CK levels being so high they assumed it would fall into one of those two areas. I love coming home from work though and seeing him running around chasing his little sisters.  It would bother me in the past but knowing there is an underlying issue, I look at it differently. 

I keep asking questions and researching and will continue to hope/pray that drugs like Translarna are approved for you and other boys in the same situation.  This has been a great therapy for me being able to communicate with people in a similar situation as you're so right about family. My family is very supportive and I couldn't ask for more but to be able to just talk is something I just can't do the same so thank you!
 
Hope said:

Hi, Jason! Thank you for sharing your story. We did all the genetic tests at the same time. I think that if your little boy doesn't have duplications or deletions, he is more likely to have a type of mutation that our son has. I hope he doesn't have it, but if his CK levels are very high, mostly likely something is going on. Our son has a point mutation(only one letter of the chain is changeed, instead of C is A in our case), which creates a stop codon and the production of dystrophin stops there. It is also called a nonsense mutation. If this is the type of mutation he has you will also be a candidate for Translarna. How much are his CK levels? Our son's are 29000! Even though his mutation is nonsense and it is located on exon 25, which is in-frame exon, he still got diagnosed with DMD based on the high CK levels and him having symptoms before age 2. This type of mutation is more likely connected to Becker than Duchenne. I am sorry I am explaining too much. I guess you still don't have an official diagnosis. I hope it is something lighter than that as there are 100 different types of muscular dystrophy . I am also thankful that I can talk to people here. Only we can understand each other. People who are not going through this cannot truly understand what is going on in our families. Yes, they are sympathetic and supportive, but they cannot truly understand. You take care and keep me posted about the tests results and what else is going on. I will help as much as I can!

Jason Miller said:

Hope - I've heard so many positive news on Translarna including that it looks to be on the path to being approved this year. I actually saw a post from BCBS that had it on their list of approved drugs only needing prior authorization. Staying positive is what you/your family and your son's need and you can do it! I have another friend here in the area who's son will benefit from the same drug and so I'm praying for you both and anyone else that will benefit. As for my son, there were no signs early on and no delays. When our twin daughters who are now 4 started climbing up stairs foot over foot, it was then that we noticed our son would use the railing or just playfully run with his hands. He's always had a normal gate when running but would run slower. Other than those two things, there was nothing else. We had his CK levels checked and they were very high so genetic testing came next. We just received results on those last Friday which showed no deletion and no duplication so the lab is now going through a more extensive test and we'll know more in about a month. Our son doesn't really get tired out and is always running around like crazy so I don't know but we've assumed DMD because of the high CK levels. I have seen so much in terms of positive medications coming out soon and what is ahead in the near future. At this point I take things one day at a time. I do go through the ups and downs though and sometimes have a hard time sleeping. I am thankful for meeting people here and just being able to talk. This is a great therapy.
I am with you all. Let's pray for all those persons in the labs working on these drugs. Their tireless efforts are appreciated. Stay hopeful and prayerful

Hi, Jay, I am so sorry to hear about your son"s diagnosis. You are at the right place, though. This is a great community even though it is so unfortunate that we get to know each other this way. What's your son's story? I see he is 6. Do you know what type mutation he has? I never heard of that medication you mentioned, I hope it works for him. Is he with Duchenne or Becker? I am praying for our boys and try to stay positive, even though it's really hard at times. I am sure that same as me and everybody else who is starting this journey, you have questions and concerns. You are free to ask questions any time, I will try to help with whatever I can. In the mean time try to stay positive and strong! 

Jay Griffin said:

All,  My son 6yrs old was diagnosed last month or so.  We recently had our appointment at Duke Hospital on Friday.  It was a bit overwhelming with everyone meeting with us.  Our appointment was at 7:45am and I would say we left at about Noonish. 

Our son had a cold for the past few weeks so when they did a series of breathing test he did not do very well.  Part of it was that he did not know how to property breath on the little tube.  They are trying to determine if its his cold, Asthma or related to DMD.  There wasn't enough information to determine so he gave us some medication for the cold and we are to come back next month to do the test again.  The following steps will be determined after those results.

For the past 2 days he says that his back hurts.  Doctor believes its spasms due to the PT he did on Friday and because of the tip towing etc. Emotionally, it was a dagger because of all that is going on.

Our son is still walking and running (sorta), going up the stairs and walking long distance.  The plan for now is NOT to do steroids until they are able to apply him for the clinical Trial VBP-15 ("Vamorolone")  With this clinical trial you can't be on any other steroids.   It may be a few months before we know when its available for trial.  This drug is very little side effects and work as or better than the current drugs. 

Sending many many prayers to our babies... Lets continue to support one another... You all are awesome!

Ginger, I might be wrong, but I thought that nonsense mutations, especially on in-frame exons are related to Becker's! On my son's lab report says that these test results are more likely to cause Becker's but his diagnosis is most likely Duchenne since he has symptoms before age 2. When I called the lab to talk to genetic counselor, they said that if they didn't have information on the patient, they would say Becker. But again, I might be wrong! When you guys talk about clinical presentations, is this the symptoms?  The neurologist didn't tell us anything about his clinical presentation, but again I don't really know what did she tell us. I am so disappointed with here. The more I read, more disappointed I get :-(

Ginger Edwards said:

Jason, your son sounds very similar to mine. He is 5 and doesn't really have any obvious symptoms. He has a bit of an awkward run, but even that has improved and now he's just a bit slower than his peers. He met all his milestones on time, although walked at 17.5 months so a tad later. He jumps and can do stairs easily, although he often doesn't alternate feet going down. He was diagnosed with a nonsense mutation in exon 31, but his clinical presentation is considered normal at this time, so he has been diagnosed with Becker. I've read that clinical presentation is more important than any test results so that is definitely reassuring. My other son (also suspected to have the same mutation) turned 2 in September and met all his milestones on time as well, walked at 13 months and is very physically active...he runs and has no symptoms as of yet so we are trying to remain hopeful until our visit to Columbus, OH next month. I recently learned I am a carrier. Both of my boys had relatively low ck levels, but I've seen so many variations of ck in relation to both Duchenne & Becker. One thing I've learned is there are so many different mutations out there and nonsense mutation related Becker is very rare..like only 5% of cases with nonsense mutations are diagnosed as Becker...but the promising news is all the medical breakthroughs and medications are geared toward nonsense mutation so I'm confident that soon we will have something that will definitely help our boys!!

Jason Miller said:

Hi Hope!  I sent you a friend request so feel free to message me.  No need to be sorry for sharing so much information.  The more I know the better. I've researched these mutations too and actually hope that once we do find out that it's one that has a medication that is in the works for being approved.  My son's CK levels were 44K but the more I read, the more I'm seeing that the number doesn't always correlate with DMD or BMD. Jacob never had missed milestones and runs with a normal gate and walk.  His issues have always been he never could jump well or run as fast as other kids but then over the last year just goes up the stairs slower.  There's so much I'm hoping for but won't be able to tell anything until the tests are done.  I think they started off with the first test because of the CK levels being so high they assumed it would fall into one of those two areas. I love coming home from work though and seeing him running around chasing his little sisters.  It would bother me in the past but knowing there is an underlying issue, I look at it differently. 

I keep asking questions and researching and will continue to hope/pray that drugs like Translarna are approved for you and other boys in the same situation.  This has been a great therapy for me being able to communicate with people in a similar situation as you're so right about family. My family is very supportive and I couldn't ask for more but to be able to just talk is something I just can't do the same so thank you!
 
Hope said:

Hi, Jason! Thank you for sharing your story. We did all the genetic tests at the same time. I think that if your little boy doesn't have duplications or deletions, he is more likely to have a type of mutation that our son has. I hope he doesn't have it, but if his CK levels are very high, mostly likely something is going on. Our son has a point mutation(only one letter of the chain is changeed, instead of C is A in our case), which creates a stop codon and the production of dystrophin stops there. It is also called a nonsense mutation. If this is the type of mutation he has you will also be a candidate for Translarna. How much are his CK levels? Our son's are 29000! Even though his mutation is nonsense and it is located on exon 25, which is in-frame exon, he still got diagnosed with DMD based on the high CK levels and him having symptoms before age 2. This type of mutation is more likely connected to Becker than Duchenne. I am sorry I am explaining too much. I guess you still don't have an official diagnosis. I hope it is something lighter than that as there are 100 different types of muscular dystrophy . I am also thankful that I can talk to people here. Only we can understand each other. People who are not going through this cannot truly understand what is going on in our families. Yes, they are sympathetic and supportive, but they cannot truly understand. You take care and keep me posted about the tests results and what else is going on. I will help as much as I can!

Jason Miller said:

Hope - I've heard so many positive news on Translarna including that it looks to be on the path to being approved this year. I actually saw a post from BCBS that had it on their list of approved drugs only needing prior authorization. Staying positive is what you/your family and your son's need and you can do it! I have another friend here in the area who's son will benefit from the same drug and so I'm praying for you both and anyone else that will benefit. As for my son, there were no signs early on and no delays. When our twin daughters who are now 4 started climbing up stairs foot over foot, it was then that we noticed our son would use the railing or just playfully run with his hands. He's always had a normal gate when running but would run slower. Other than those two things, there was nothing else. We had his CK levels checked and they were very high so genetic testing came next. We just received results on those last Friday which showed no deletion and no duplication so the lab is now going through a more extensive test and we'll know more in about a month. Our son doesn't really get tired out and is always running around like crazy so I don't know but we've assumed DMD because of the high CK levels. I have seen so much in terms of positive medications coming out soon and what is ahead in the near future. At this point I take things one day at a time. I do go through the ups and downs though and sometimes have a hard time sleeping. I am thankful for meeting people here and just being able to talk. This is a great therapy.

Hello Hope,

Franklin has a deletion of 51-55 ; He has duchenne ;  Presently he is dealing with some breathing issues being that he has had a cold for some time.  They are giving him some medications to assist with it until he goes back for a 2nd breathing test.   He did not do well 1. because of the breathing / congestion issues due to cold  2. couldn't properly do the exercise of putting his mouth around the tube.  Per doctor, there  isn't enough info to determine the source of his breathing issues.

With regards to the steroids, we are presently not taking any because we are hoping to get involved in the new trial.  There is no definite time frame of when that will start but we are looking for it before end of February.

I guess for now, I am looking for some natural supplements... The biggest thing is I am praying aggressively for ALL our STRONG young men.  Praying for total healing and speaking into their destiny. Praying for the men an women in the labs testing these new drugs.  I pray they use their gifts that GOD has given them to make a positive impact on the thousands of young men.  Let's just corporately pray for our babies.. 

 


 
Hope said:

Hi, Jay, I am so sorry to hear about your son"s diagnosis. You are at the right place, though. This is a great community even though it is so unfortunate that we get to know each other this way. What's your son's story? I see he is 6. Do you know what type mutation he has? I never heard of that medication you mentioned, I hope it works for him. Is he with Duchenne or Becker? I am praying for our boys and try to stay positive, even though it's really hard at times. I am sure that same as me and everybody else who is starting this journey, you have questions and concerns. You are free to ask questions any time, I will try to help with whatever I can. In the mean time try to stay positive and strong! 

Jay Griffin said:

All,  My son 6yrs old was diagnosed last month or so.  We recently had our appointment at Duke Hospital on Friday.  It was a bit overwhelming with everyone meeting with us.  Our appointment was at 7:45am and I would say we left at about Noonish. 

Our son had a cold for the past few weeks so when they did a series of breathing test he did not do very well.  Part of it was that he did not know how to property breath on the little tube.  They are trying to determine if its his cold, Asthma or related to DMD.  There wasn't enough information to determine so he gave us some medication for the cold and we are to come back next month to do the test again.  The following steps will be determined after those results.

For the past 2 days he says that his back hurts.  Doctor believes its spasms due to the PT he did on Friday and because of the tip towing etc. Emotionally, it was a dagger because of all that is going on.

Our son is still walking and running (sorta), going up the stairs and walking long distance.  The plan for now is NOT to do steroids until they are able to apply him for the clinical Trial VBP-15 ("Vamorolone")  With this clinical trial you can't be on any other steroids.   It may be a few months before we know when its available for trial.  This drug is very little side effects and work as or better than the current drugs. 

Sending many many prayers to our babies... Lets continue to support one another... You all are awesome!

Hope - I'm not sure my sons mutation is actually inframe! The have a change in the code from a C to T which causes a stop codone normally, but in some exons the sequence sort of skips over the mistake and stays what they call inframe which is what I think is happening in my boys! But most nonsense mutations lead to 0 dystrophin from what I've read, which leads to severe Duchenne! I'm still learning tho! Clinical presentation is like symptoms or signs! My son has a unusual gait when running, but normal muscle strength, reflexes and no growers so that's what they based his diagnosis on!

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