Hello!!! After we left the neurologist's office with the DMD diagnosis we got referrals for cardiologist and pulmonologist. I already scheduled the appointments but I was wondering what test and procedures they will perform. I also need to know if there are any specific questions I should ask. How were your first appointments? Is there anything I should worry about just yet? My son is 2 years old. I also would like to know if any of your boys had/have any developmental delays, what kinds and if they were able to overcome them and catch up with their friends? All help is appreciated. Thank you!!!

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I've never responded to any of these before, nor have I even read any...  But I just clicked on real quick and saw your post, and felt that I should say something.

My son was just diagnosed last year; he is now 7 years old.  You're lucky the doctors have found it early.  My son is still walking, and tries to be very active.  He is not as fast as the other kids his age, but he can still fit in without anyone really noticing.  He's pretty much on point as far as academically, but was a slow starter with everything.

You'll go to many doctor appts, most of which will seem unreal.  Our first cardiologist appt was for his echo, which takes 20 minutes or so.  It seems unreal...that you have to see your little child go through this stuff.  But you both get through it, and everything will be ok.  One way or another.  Trust in God.  Pray that researchers come up with a cure soon.  And enjoy every minute with him.  God bless you and your son.  Take care, and stay positive.

Hi, Rachel, thanks for your response! I started noticing that something is not right with my son when he turned 1 and he started falling behind on his milestones. I feel that probably I was the one who found it that early. I asked my dr to schedule routine blood tests so I can make sure that everything is ok with his vitamins and minerals. Everything was fine except the liver enzymes AST and ALT came back high. They thought that he has liver problems so we went for an ultrasound (it came back good) they made liver panel and it came back good. Dr thought that it was a mistake in the lab so they run the AST and ALT again two weeks later and the results came back even higher. We were referred  to a GI dr. Nobody knew what was wrong and I kept pushing for more tests, telling them that something is wrong and I need to know what. The GI dr started to run 4-5 test every week, trying to exclude different diseases. Then she decided to run a CK levels and they came back 31,000, she explain that he probably has some type of muscular dystrophy and referred us to Neurologist. They did a genetic testing and it was confirmed that he has a mutation on the dystrophyn gene and diagnosed him with DMD. As I mentioned in one of my earliest posts what was a routine blood test turned into a horror movie for our family.

I just would like to know a little bit more for your son if you feel like sharing. We all know how the DMD progresses but now that I know, I would like to learn a little bit more about the boys who were developmentally delayed. I know that all children are different but I was wondering if my little boy will be able to overcome his global developmental delay. It is hard as it is, so I was hoping that at least he will overcome his delay and will be able to fit in with his friends before the DMD progreses.

Thanks, again, you can send me a personal message if you prefer to talk with me privately. Good luck and best wishes for your son and your whole family.

I really can't tell you how your son will be.  I wish I could.  I've heard that every boy is different.  Some boys have delays, some don't.  It's one of those things where only time will tell.  I try not to think or worry about the future much at all.  That's my way of dealing.  I trust that God has a plan, and whether the outcome for my son is what I would want or not, I know we'll all be ok because God will help us through everything.  Do your best with keeping your son active and learning, and he'll be the best he can be.  Be on top of his doctor appts and therapies, live life to the fullest in between all of it, and leave the rest to God.  That's the best you can do.  Accepting it and getting through the first 8 months or so was the hardest for me.  But after that, things calm down and life seems normal again...just a different kind of normal.  I'm sorry I couldn't answer your question any better, but I can't predict how your son will progress and/or improve.  Really, no one can.  Just know that either way, he'll be happy and ok, and so will you...

And for the record, my son has many friends at school and is in the low-average range as far as academics.  We're going to look into signing him up for karate and swim lessons in the very near future....all good things to keep him active and as strong as he can be.  : )

Hope said:

Hi, Rachel, thanks for your response! I started noticing that something is not right with my son when he turned 1 and he started falling behind on his milestones. I feel that probably I was the one who found it that early. I asked my dr to schedule routine blood tests so I can make sure that everything is ok with his vitamins and minerals. Everything was fine except the liver enzymes AST and ALT came back high. They thought that he has liver problems so we went for an ultrasound (it came back good) they made liver panel and it came back good. Dr thought that it was a mistake in the lab so they run the AST and ALT again two weeks later and the results came back even higher. We were referred  to a GI dr. Nobody knew what was wrong and I kept pushing for more tests, telling them that something is wrong and I need to know what. The GI dr started to run 4-5 test every week, trying to exclude different diseases. Then she decided to run a CK levels and they came back 31,000, she explain that he probably has some type of muscular dystrophy and referred us to Neurologist. They did a genetic testing and it was confirmed that he has a mutation on the dystrophyn gene and diagnosed him with DMD. As I mentioned in one of my earliest posts what was a routine blood test turned into a horror movie for our family.

I just would like to know a little bit more for your son if you feel like sharing. We all know how the DMD progresses but now that I know, I would like to learn a little bit more about the boys who were developmentally delayed. I know that all children are different but I was wondering if my little boy will be able to overcome his global developmental delay. It is hard as it is, so I was hoping that at least he will overcome his delay and will be able to fit in with his friends before the DMD progreses.

Thanks, again, you can send me a personal message if you prefer to talk with me privately. Good luck and best wishes for your son and your whole family.

Hi Hope!  Our son also has many developmental delays.  He will be 5 in February and still is at a 3 year old level for speech, fine motor, and obviously gross motor skills.  He has however made tremendous progress in the last 6 months so yes, I believe he will catch up to his peers at some point.  We really pushed with Early Intervention and he gets a ton of services. Even with all the delays (including still not potty trained) he still has lots of friends in preschool who love to play with him and even help him when he is struggling.  I'd be happy to talk to you more if you want!  Best wishes and just know it will get easier, the first year was the hardest.

Thank you so much for the encouraging words!

Rachel Hendrickson said:

And for the record, my son has many friends at school and is in the low-average range as far as academics.  We're going to look into signing him up for karate and swim lessons in the very near future....all good things to keep him active and as strong as he can be.  : )

Hope said:

Hi, Rachel, thanks for your response! I started noticing that something is not right with my son when he turned 1 and he started falling behind on his milestones. I feel that probably I was the one who found it that early. I asked my dr to schedule routine blood tests so I can make sure that everything is ok with his vitamins and minerals. Everything was fine except the liver enzymes AST and ALT came back high. They thought that he has liver problems so we went for an ultrasound (it came back good) they made liver panel and it came back good. Dr thought that it was a mistake in the lab so they run the AST and ALT again two weeks later and the results came back even higher. We were referred  to a GI dr. Nobody knew what was wrong and I kept pushing for more tests, telling them that something is wrong and I need to know what. The GI dr started to run 4-5 test every week, trying to exclude different diseases. Then she decided to run a CK levels and they came back 31,000, she explain that he probably has some type of muscular dystrophy and referred us to Neurologist. They did a genetic testing and it was confirmed that he has a mutation on the dystrophyn gene and diagnosed him with DMD. As I mentioned in one of my earliest posts what was a routine blood test turned into a horror movie for our family.

I just would like to know a little bit more for your son if you feel like sharing. We all know how the DMD progresses but now that I know, I would like to learn a little bit more about the boys who were developmentally delayed. I know that all children are different but I was wondering if my little boy will be able to overcome his global developmental delay. It is hard as it is, so I was hoping that at least he will overcome his delay and will be able to fit in with his friends before the DMD progreses.

Thanks, again, you can send me a personal message if you prefer to talk with me privately. Good luck and best wishes for your son and your whole family.

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