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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I am sorry, I think I posted in the wrong place!!!

Sorry to hear of your diagnosis. The first few weeks are normally really really hard. Reaching out is the best thing to do. Find a great doctor and travel to see them if you can. There is lots of hope right now for treatments and cures coming!! Where do you live? There are huge FB forums that lots of folks are on and are great places to connect with people. Look for DMD Moms to start and then you will find other pages. We are all in this together!!!

Dear Hope,

I am sorry that you have been thrown into this turmoil. What is your little guy"s name?

A muscle biopsy would be able to tell if your son has some dystrophin or not, and thus Becker or Duchenne md, but perhaps it is not something you need to know right now as he is only 2 and has no symptoms yet. He might not handle surgery well at such a young age. The steroids have some side effects, so starting too early before symptoms is not a good idea, so that is why they said to wait. Good nutrition, strong bones, focus on that. Swimming is a great exercise, just don't over-do any activity Lots of rest and plenty of water to drink. Starting a stretching routine early might help him to accept it as just part of his normal life (you may already have found it, but I think there are links on here for stretching and physio, and lots of other useful info of course). As Lori already said, find a DMD specialist and center, as they are the best equipped to help equip you for the journey.

It's a steep learning curve and you will have many questions. Go easy on yourself, you don't need to try and understand it all right now. I don't think I've been very helpful, but we are here for you.

Andrea

Thank you for your kind words, Lori! We live in Oklahoma City. My son's Dr also work in the Neuromuscular clinic here, so I guess we are going to keep seeing her in the clinic. I read all about the new medications in research and I really hope that in time they will come up with something and it will be accessible on a reasonable price. I found the FB group, but I am not ready to go public yet. I see it's a closed group, but everybody can see who is in it. I just need some more time.

Lori Ware said:

Sorry to hear of your diagnosis. The first few weeks are normally really really hard. Reaching out is the best thing to do. Find a great doctor and travel to see them if you can. There is lots of hope right now for treatments and cures coming!! Where do you live? There are huge FB forums that lots of folks are on and are great places to connect with people. Look for DMD Moms to start and then you will find other pages. We are all in this together!!!

Hello, Andrea, thanks for your reply. My husband also said that he is too young for biopsy, so I guess we are going to play the waiting game. Where I can find information on stretching. I do a lot of research and at this point I am trying to understand the science behind the condition. I just felt bad, because our Dr didn't explain anything the way she was supposed to. I am not saying that she is wrong about diagnosing him with DMD, but I wanted to hear that there is a slight chance that he can have BMD. She also told us he doesn't have any dystrophin in his system, but I don't know how she knows that. Anyways, thanks for your support, as it is really hard for us to accept that horrible fact about our son. 
I don't like to put personal information on line especially on this topic. Anyone can view all the posts on this forums. I was looking for answers here long before I become a member, not to mention that our friends and family don't  know about it yet. Today my brother and his wife had their little baby boy, so I didn't want to spoil this happy moment for them or our parents. I will be glad to give you more information about our family, but only in a personal message. What is your story? how old is your boy? Do you have only one child? Thank you so much!!!
Andrea Cleary said:

Dear Hope,

I am sorry that you have been thrown into this turmoil. What is your little guy"s name?

A muscle biopsy would be able to tell if your son has some dystrophin or not, and thus Becker or Duchenne md, but perhaps it is not something you need to know right now as he is only 2 and has no symptoms yet. He might not handle surgery well at such a young age. The steroids have some side effects, so starting too early before symptoms is not a good idea, so that is why they said to wait. Good nutrition, strong bones, focus on that. Swimming is a great exercise, just don't over-do any activity Lots of rest and plenty of water to drink. Starting a stretching routine early might help him to accept it as just part of his normal life (you may already have found it, but I think there are links on here for stretching and physio, and lots of other useful info of course). As Lori already said, find a DMD specialist and center, as they are the best equipped to help equip you for the journey.

It's a steep learning curve and you will have many questions. Go easy on yourself, you don't need to try and understand it all right now. I don't think I've been very helpful, but we are here for you.

Andrea

http://www.parentprojectmd.org/site/PageServer?pagename=Care_physic...

You don't need to share personal info if you don't want to, no worries.

Andrea


 

Hope - 

I am so sorry that you had to find this amazing group of families for this reason.  We are here to help guide you in any way that we can.  We have just developed a "Newly Diagnosed" page

http://www.parentprojectmd.org/site/PageServer?pagename=Understand_...

I hope that you are able to find helpful information here.  If there is anything that you are looking for that you can't find, please don't hesitate to ask.  we are all a call or email away.

Kathi

PPMD 

Thank you, Kathi

Kathi Kinnett said:

Hope - 

I am so sorry that you had to find this amazing group of families for this reason.  We are here to help guide you in any way that we can.  We have just developed a "Newly Diagnosed" page

http://www.parentprojectmd.org/site/PageServer?pagename=Understand_...

I hope that you are able to find helpful information here.  If there is anything that you are looking for that you can't find, please don't hesitate to ask.  we are all a call or email away.

Kathi

PPMD 


Thanks for the link, Andrea. 
Andrea Cleary said:

http://www.parentprojectmd.org/site/PageServer?pagename=Care_physic...

You don't need to share personal info if you don't want to, no worries.

Andrea


 

Hope-

I'm sorry for your news. I am proud of you for posting. Having gone through it myself, I didn't reach out for support early on (and now I wish I did), drowned myself in research data and too much jargon and tried to understand it all when all I really had capacity for was grief and fear.

For me, I fretted and panicked during the 5 weeks we waited for the genetic testing to determine whether my son had DMD or BMD. I really have carried those 5 weeks around with me and reflected back on them often. I mourned for those weeks (the unknowing was so difficult for me).

It is hard for me to believe but 1 year later (when the dreaded diagnosis of DMD was confirmed), we're hanging in there. My concerns during those early days have really not come to fruition. Our lives are unchanged save for the fact that we pay closer attention to things. We eat better-we rest more consistently-we stretch. We celebrate each day a little more than we used to.

I really wish someone had just told me, "It will be ok. YOU will be ok." Peace to you. I encourage you to find support wherever you can. I'm happy to help if you want to chat.

Hello, Michele, thanks for your kind words. I am glad you reached out to me. It looks like we are kind of the same way. This is what I am doing now. Research - 5-6 hours a day, so I can find answers. I think that the fear and the grief will never end. I am trying to take it one day at a time but my heart skips a beat every time my son smiles at me and this smile is interrupted by the horrible thought of  DMD. I am dying inside just thinking that his childhood is taken away, just thinking that we won't be able to fulfill even the simple dreams we had for him ( riding a bikes, run at the park or play soccer ) Thank you for reaching out. I would love to chat with you, as I am so alone and probably there is nobody I know who will understand what we are going through, nobody who can understand how hard is to get up in the morning, to get presentable and to put a smile on your face, but I still do it because  my son doesn't deserve me being in a bad mood, me being depressed. He still needs me more than ever, he still needs me to play with him, to hug him and to kiss him, he needs mommy to be happy.

Michele said:

Hope-

I'm sorry for your news. I am proud of you for posting. Having gone through it myself, I didn't reach out for support early on (and now I wish I did), drowned myself in research data and too much jargon and tried to understand it all when all I really had capacity for was grief and fear.

For me, I fretted and panicked during the 5 weeks we waited for the genetic testing to determine whether my son had DMD or BMD. I really have carried those 5 weeks around with me and reflected back on them often. I mourned for those weeks (the unknowing was so difficult for me).

It is hard for me to believe but 1 year later (when the dreaded diagnosis of DMD was confirmed), we're hanging in there. My concerns during those early days have really not come to fruition. Our lives are unchanged save for the fact that we pay closer attention to things. We eat better-we rest more consistently-we stretch. We celebrate each day a little more than we used to.

I really wish someone had just told me, "It will be ok. YOU will be ok." Peace to you. I encourage you to find support wherever you can. I'm happy to help if you want to chat.

Michele, I would like to be friends, but I don't know which one you are. Let me know or you can add me to your friend's list if you like. Thanks again

Hope said:

Hello, Michele, thanks for your kind words. I am glad you reached out to me. It looks like we are kind of the same way. This is what I am doing now. Research - 5-6 hours a day, so I can find answers. I think that the fear and the grief will never end. I am trying to take it one day at a time but my heart skips a beat every time my son smiles at me and this smile is interrupted by the horrible thought of  DMD. I am dying inside just thinking that his childhood is taken away, just thinking that we won't be able to fulfill even the simple dreams we had for him ( riding a bikes, run at the park or play soccer ) Thank you for reaching out. I would love to chat with you, as I am so alone and probably there is nobody I know who will understand what we are going through, nobody who can understand how hard is to get up in the morning, to get presentable and to put a smile on your face, but I still do it because  my son doesn't deserve me being in a bad mood, me being depressed. He still needs me more than ever, he still needs me to play with him, to hug him and to kiss him, he needs mommy to be happy.

Michele said:

Hope-

I'm sorry for your news. I am proud of you for posting. Having gone through it myself, I didn't reach out for support early on (and now I wish I did), drowned myself in research data and too much jargon and tried to understand it all when all I really had capacity for was grief and fear.

For me, I fretted and panicked during the 5 weeks we waited for the genetic testing to determine whether my son had DMD or BMD. I really have carried those 5 weeks around with me and reflected back on them often. I mourned for those weeks (the unknowing was so difficult for me).

It is hard for me to believe but 1 year later (when the dreaded diagnosis of DMD was confirmed), we're hanging in there. My concerns during those early days have really not come to fruition. Our lives are unchanged save for the fact that we pay closer attention to things. We eat better-we rest more consistently-we stretch. We celebrate each day a little more than we used to.

I really wish someone had just told me, "It will be ok. YOU will be ok." Peace to you. I encourage you to find support wherever you can. I'm happy to help if you want to chat.

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