My son was diagnosed this week with Duchenne. He has exon deletion 45. He is 5.5 years old (will be 6 in January). We are seeing Dr. Nancy Kuntz at the Lurie Children's Hospital in Chicago. I have a lot of questions that I think parents who have been through this could help me with. I don't think it makes sense to just bombard the message board with a bunch of questions- so if you are able to help me out please inbox me so I can contact you. A greatly appreciate your help!

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Hi Hally,

I have two sons with DMD (and a deletion of 45).  They are turning 8 and 5 in about a month.  I'm happy to answer any questions you have, privately, or on the board.

Hi Hally,  I'm directly across the state from you in the beautiful northwest corner of Illinois.  We are on year 5 of diagnosis - also diagnosed at age 5.  Please feel free to email me with any specific questions.  You are not alone. 

Thank you both so much. We are still trying to just wrap our minds around this. In just 6 weeks we went from finding a high ck, spending 5 days in the hospital for a hip effusion, first going to rheumatology (my father has polymyositis so that's what they first thought it might be), to getting the test for DMD and getting results just 3 weeks later....Its comforting to know that we are not alone.

Andrew, we also have a younger son (20 months) and just found out he is thank G-d ok. How have you found it to be between them? I was so relieved my baby is ok but at the same time feel awful thinking about how he will pass his big brother by physically very soon (he is an extremely active toddler, although my perception is probably skewed from having my first experience be with a baby with Duchenne...).

Donna, are you involved at all in the Chicago area? It would be great to meet other local families going through this.

I will just cut and copy the questions I currently have and would appreciate any responses:

How to talk to school/teachers/parents?

How do we explain this to our son? How much do we tell him? Should we have Dr. Kuntz talk to him about his diagnosis?

What treatments do you think have the most promise? Where should we put in our efforts?

What therapies have you found to be really successful? Swimming? Anything else?

Should my husband and I do some strength training?

How has the side effects of steroids been for you? What has helped? What’s hardest to deal with?

Have you ever noticed OCD tendencies? We are seeming some slight OCD behavior in our son.

When do significant symptoms first begin? At almost 6 he just seems slower and smaller than his peers but is still very independent.

 

Please feel free to send me any helpful links or other info you have found helpful. I greatly appreciate your help.

I think our boys get along as most brothers would.  For the most part they're great together, but they fight too.  Some of it is probably because they are both on Deflazacort and there are some heightened emotions that go along with that.

At the beginning of each school year, we try to talk to the teachers and let them know about their limitations.  So far they've all been very receptive and encourage the boys to participate in everything they can, but especially in gym class to go and sit down if they feel tired or their muscles start to ache.  PPMD has a nice booklet you can print off.  I do so each year for our kids' teachers and take it in to them.  If they have any questions, they always have my home, work and cell numbers and I encourage them to call if they have questions.  The school has been very supportive.  We do a fundraiser every year for a Canadian charity (Jesse's Journey) and they donate their gym for the day for us to use.  The school also holds a fundraising BBQ each year to raise money as well.

Our sons know they have Muscular Dystrophy, and that they aren't as strong as their friends and classmates.  Hayden (the oldest) has a wheelchair and knows that if we're going to be walking a lot, he should ride in it, at least part of the way so he doesn't tire himself out.  He sometimes asks questions and we try to answer honestly.  Hayden is a pretty outgoing happy kid, so he doesn't dwell on it much.  We try and encourage our kids to talk to us when they are upset or have problems.  So far, most of the time they are distressed, it's about normal kid things that I imagine every parent goes through.

I'm really hoping exon skipping will get approved as a treatment.  I think it's the one that's farthest along.  It is far from a cure, but it may be able to halt the decline in functionality which would be a great improvement in what we can expect.  There are some other things going on as well, like utrophin upregulation which I think shows promise as well, but I don't think its nearly as far along.

As far as therapies, there isn't much.  Steroids are pretty much a given for most parents, but discuss it with your team.  Swimming is good, and likely at some point you'll want to start doing some stretches, especially on their feet and legs.  I assume you'll have a physical therapist that will go over this with you at some point.  Strength training isn't really an option.  In fact, a lot of exercises can have negative impact on our kids in the long term.  We don't really limit what we our kids do as far as playing, but I don't think that exercise, in the traditional sense, is good for them, so we avoid it.

The side effects of Deflazacort have been pretty minimal for us.  We only have the two boys, and with both having DMD, we don't have a lot to compare them to.  I would say we've noticed some heightened emotional responses, mostly early on.  Cameron just started a few months ago, and I'd say I've noticed a difference.  It's not unmanageable, and Hayden seems to have gotten past the worst of that and has really matured in the last year or so.  We have definitely noticed an improvement in strength in Hayden with Deflazacort, so we have no regrets there.

Both our kids have some relatively minor OCD tendancies, but so do I.  Nothing major, just little things that don't really impact our life.  Hayden is showing some signs of ADD, but has been diagnosed with sleep apnea and that is likely the cause, so we're trying to determine what our options there are.

Symptoms begin right away and progress... but relatively slowly.  Hayden didn't walk until he was about 26 months old.   All his physical milestones were delayed.  Cameron was delayed as well, but not as much.  We don't notice too much on a daily basis, but we do notice when they are around other kids their own age.  Our boys seem clumsy and slow.  They run with an awkward gait and struggle with things other kids take for granted.

PPMD is probably the best source of information I've found.  It is a very big site with a lot of information.  These forums are probably the best source of information you can find... other parents that have and are going through the same things you are.

Please remember that you don't have to decide anything today.  Take some time to understand what is going on and find out what your Doctors and other medical professionals suggest.  There's a large group that we meet with once or twice a year right now (Neurologist, Pulmonologist, physical therapist, occupational therapist, nurse, social worker, and sometimes others).  There's a very steep learning curve and its easy to feel overwhelmed early on.  You don't have to make any decisions today.  Delaying stretches or steroids for a few weeks or even months until you are comfortable with why most parents do them is okay.

I'm by no means an expert on DMD, just a well informed parent, as are most of us here.  

Thanks, Andrew. This is very helpful.

I wanted to just clarify that I was asking if my husband and I should be doing strength training so in the future we will be able to help our son physically.

Andrew Kerr said:

I think our boys get along as most brothers would.  For the most part they're great together, but they fight too.  Some of it is probably because they are both on Deflazacort and there are some heightened emotions that go along with that.

At the beginning of each school year, we try to talk to the teachers and let them know about their limitations.  So far they've all been very receptive and encourage the boys to participate in everything they can, but especially in gym class to go and sit down if they feel tired or their muscles start to ache.  PPMD has a nice booklet you can print off.  I do so each year for our kids' teachers and take it in to them.  If they have any questions, they always have my home, work and cell numbers and I encourage them to call if they have questions.  The school has been very supportive.  We do a fundraiser every year for a Canadian charity (Jesse's Journey) and they donate their gym for the day for us to use.  The school also holds a fundraising BBQ each year to raise money as well.

Our sons know they have Muscular Dystrophy, and that they aren't as strong as their friends and classmates.  Hayden (the oldest) has a wheelchair and knows that if we're going to be walking a lot, he should ride in it, at least part of the way so he doesn't tire himself out.  He sometimes asks questions and we try to answer honestly.  Hayden is a pretty outgoing happy kid, so he doesn't dwell on it much.  We try and encourage our kids to talk to us when they are upset or have problems.  So far, most of the time they are distressed, it's about normal kid things that I imagine every parent goes through.

I'm really hoping exon skipping will get approved as a treatment.  I think it's the one that's farthest along.  It is far from a cure, but it may be able to halt the decline in functionality which would be a great improvement in what we can expect.  There are some other things going on as well, like utrophin upregulation which I think shows promise as well, but I don't think its nearly as far along.

As far as therapies, there isn't much.  Steroids are pretty much a given for most parents, but discuss it with your team.  Swimming is good, and likely at some point you'll want to start doing some stretches, especially on their feet and legs.  I assume you'll have a physical therapist that will go over this with you at some point.  Strength training isn't really an option.  In fact, a lot of exercises can have negative impact on our kids in the long term.  We don't really limit what we our kids do as far as playing, but I don't think that exercise, in the traditional sense, is good for them, so we avoid it.

The side effects of Deflazacort have been pretty minimal for us.  We only have the two boys, and with both having DMD, we don't have a lot to compare them to.  I would say we've noticed some heightened emotional responses, mostly early on.  Cameron just started a few months ago, and I'd say I've noticed a difference.  It's not unmanageable, and Hayden seems to have gotten past the worst of that and has really matured in the last year or so.  We have definitely noticed an improvement in strength in Hayden with Deflazacort, so we have no regrets there.

Both our kids have some relatively minor OCD tendancies, but so do I.  Nothing major, just little things that don't really impact our life.  Hayden is showing some signs of ADD, but has been diagnosed with sleep apnea and that is likely the cause, so we're trying to determine what our options there are.

Symptoms begin right away and progress... but relatively slowly.  Hayden didn't walk until he was about 26 months old.   All his physical milestones were delayed.  Cameron was delayed as well, but not as much.  We don't notice too much on a daily basis, but we do notice when they are around other kids their own age.  Our boys seem clumsy and slow.  They run with an awkward gait and struggle with things other kids take for granted.

PPMD is probably the best source of information I've found.  It is a very big site with a lot of information.  These forums are probably the best source of information you can find... other parents that have and are going through the same things you are.

Please remember that you don't have to decide anything today.  Take some time to understand what is going on and find out what your Doctors and other medical professionals suggest.  There's a large group that we meet with once or twice a year right now (Neurologist, Pulmonologist, physical therapist, occupational therapist, nurse, social worker, and sometimes others).  There's a very steep learning curve and its easy to feel overwhelmed early on.  You don't have to make any decisions today.  Delaying stretches or steroids for a few weeks or even months until you are comfortable with why most parents do them is okay.

I'm by no means an expert on DMD, just a well informed parent, as are most of us here.  



Hally Goldstein said:

Thanks, Andrew. This is very helpful.

I wanted to just clarify that I was asking if my husband and I should be doing strength training so in the future we will be able to help our son physically.

That's not a bad idea at all.  My wife and I have been making an effort over the last number of years to get and stay in better shape.  My wife is a carrier, and has some muscle soreness that may or may not be related to her carrier status.  I don't do a lot of muscle building, but I do run fairly often and try to do some other things to make sure I'm in reasonably good shape.

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