Our 4 year old son was diagnosed with Duchenne in November 2010 (Deletion 3 to 43).  Under the care of Dr. Wong we are waiting for the results of a muscle biopsy to see the correct dose of steroid treatment.  Dr Wong was impressed with his overall strength but puzzled by very high and changing CK values.  As high as 97000 and down to 22000.  We have Deflazacort at the house and waiting to start but naturally we are so apprehensive.  The devastation of this illness has us so depressed with a feeling of helplessness and hopelessness.  I know there are potential therapies down the line but we are afraid it will come to late or not help our son at all. Any comments of hope would be greatly appreciated.  Rob

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Theresa and Rob,

I think we have all felt how you are feeling right now. And your emotions will be all over the radar screen, and not necessarily at the same time, as a couple.

All I can say is to try to take it one day at a time. Be present now, here. Go easy on yourselves and each other.  It's impossible for you to believe it now, but things will get better. We will all be stronger for our journey.

Thinking of you,

A.

 

Thank you for your support and encouragement.  This has caused so much stress within the marriage and the hurt is there 24/7.  Is there any way we can speak?
Thanks for getting back to me.  My is email robcap9mm@aol.com I iwll email you later on I am still at work.

Hi Rob,

Welcome to PPMD and I hope you don't take this the wrong way but I'm very sorry you had to join up!  My husband and I have been at this a mere 3 years and distinctly remember those first few mos/year after receiving this horrible diagnosis.  I still get sad reading about another beautiful boy afflicted, and now here's yours. 

 

Our son is 12 (yup, no dx until age 9!) so we had to learn a lot faster than we wanted in order to get up to speed with care, chemestries, equipment... We still don't know everything, duchenne is an extremely complicated disease.   Fighting depression is a major part of what happens to families so you guys aren't alone there.  Your feelings of helplessness & hopelessnes are echoed throughout our entire community.  Duchenne scares the s#!) out of me everyday and yet I've been at this about 1200 days.  Although my hatred for duchenne continues - living with it is doable once I found the coping skills and a few tools along the way. 

Please don't give up on your 4 year old, if you do-my 12 year old is doomed.  Plus I truely believe (have to since it's one of those coping skills) exon skipping, myostatin inhibitors and new heart medications are on the way.  Not to mention several other approaches.  I fully expect the ones I just named will be here in time for my son...and yes yours too! 

Hi Cheryl thank you so much for getting back to us.  Yes it has been an unthinkable time for my son and the whole family.  I appreciate your support.  I have done so much research the past few months and have looked into some of the approaches you have mentioned.  Does your son have Duchenne or Beckers?  How is he doing overall?  Are his muscles Strong?  

cheryl cliff said:

Hi Rob,

Welcome to PPMD and I hope you don't take this the wrong way but I'm very sorry you had to join up!  My husband and I have been at this a mere 3 years and distinctly remember those first few mos/year after receiving this horrible diagnosis.  I still get sad reading about another beautiful boy afflicted, and now here's yours. 

 

Our son is 12 (yup, no dx until age 9!) so we had to learn a lot faster than we wanted in order to get up to speed with care, chemestries, equipment... We still don't know everything, duchenne is an extremely complicated disease.   Fighting depression is a major part of what happens to families so you guys aren't alone there.  Your feelings of helplessness & hopelessnes are echoed throughout our entire community.  Duchenne scares the s#!) out of me everyday and yet I've been at this about 1200 days.  Although my hatred for duchenne continues - living with it is doable once I found the coping skills and a few tools along the way. 

Please don't give up on your 4 year old, if you do-my 12 year old is doomed.  Plus I truely believe (have to since it's one of those coping skills) exon skipping, myostatin inhibitors and new heart medications are on the way.  Not to mention several other approaches.  I fully expect the ones I just named will be here in time for my son...and yes yours too! 

I feel and still feel the way you do rob the fear of this put mostly me at a standstill not to mention the rest of the family.  Christian was diagnosed in 2005 . He is thirteen now.  And our lives have never been the same. I spent most of my time stunned numbed and mad as all get out. I will not say our marriage was perfect before this. But dmd did not make things easier or the past problems go away completely.  But I plan to fight this thing with my wife and kids and any group with a common goal . I am tired of hiding and blamming. And plan to make it the best time I can with my family. And learn along the way. I deal with many people daily with complicated diseases and illness. This is by far no cake walk for me.  You just dont know how many times I contemplated on giving up in my relationship . Blame and go.( Dont give up ). I plan not to. And my wife reminds me now of quality not quantity.  You all hang in there your not alone. I feel ya. Please do not blame each other no one could have asked for this. 

I am so sorry you are having to join our group as well. I would be more than happy to speak with you by phone anytime you need to talk. I remember how painful and scary it was for me and sometimes still is. Email me at joanne.hathcoat@yahoo.com and I will give you my phone number. Take care of yourselves....we are all here for you!

Hi Rob,

You're not alone.  There are far too many parents here that have been in your situation and still are.  We're relatively new, as well.  We found out about our two boys about 2 years ago.  Hayden, our oldest is 5 and has been on deflazacort for about 10 months now.  I wasn't sure how much of an affect it was having until we saw the video of him just before he started on it, and compared that against his abilities about 6 months later.  There was no doubt the steroids are helping. 

 

We've had very little in the way of side effects.  He seems a bit quick to tears when he doesn't get his way, but its hard to say if that's the deflazacort, or just a young boy dealing with disappointment.

 

In any case, this is a great place to ask questions, and you'll find no end of support here.

Hi Rob,

My son has been diagnosed with missing two neucleotides on exon 44, causing a frameshift onto exon 45.  This is a "point" mutation or, "small" mutation.  He needs to skip 2 exons to restore the reading frame.  His diagnosis is considered Duchenne, albiet a somewhat "milder" case than the standard.  He was diagnosed late and we attribute this to having what one neurologist described as "duchenne lite" or "beckers dark".  None the less, Alexander is doing well enough...still walks (that funny duchenne walk they do) a little but that ability is leaving him and fast.  Upper body strength appears to be decreasing as well, he now has to take heart meds which is brand new to us.  Transferring from one seat to another is diminished as we are preparing our house to accomodate these unwelcome changes.  Alexander sees Dr Flanigan, Nationwide Childrens Hospital and we couldn't say enough nice things them, they're the best!   But we do have to get there from California and that sometimes is difficult.  Overall, I'd say that although we got a late-mild diagnosis Alexander seems to be following much of the typical path :(

 

We've enrolled him in a couple of research studies, via Nationwide.  At first I was against "allowing my son to be used as a research rat", but have since concluded there are non-invasive studies out there that provide a wealth of information.  Information is our best friend in the fight against duchenne.  Even if results are negative- that's information we need and I  encourage all parents to look into studies, but don't criticize anyone's position if they decide against it. 

 

Another tool for coping is getting involved with PPMD's Advocacy Conferences held in Washington, DC every Feb.  There is a HUGE payoff, emotionally and financially, in this fight.  We went just months after getting the diagnosis and it turned out to be a great choice for us. 

 

PPMD also has the latest info about care.  You'll want to read up on that stuff if you haven't already.  It's a lot to take in especially when emotions are raw in the first year of dx.  I had to make myself read, re-read, re-read again at first just to let things soak in since DMD is such a nasty disease to face. 

 

When my husband and I were first dealing with things we came to communicate here at PPMD.  We found many wonderful families who understood us, without ever meeting us.  When I researched exon skipping, which was first mentioned to us by Dr Flanigan, I did find some parents couldn't believe it would; 1-work and 2-get here fast. But it is doing both!!  I have no doubt it will be available for my son and yours too, it just very well may be in a different country.  It's not a "cure", but certainly something much better than what currently is offered and there IS more coming!   

 

"Stay focused on hope and help when you can" is what helps get me through the day, 5 minutes at a time, everyday.  And the love of some beautiful strangers whom I've met along this road.  I've learned to garden more, have a glass of vino with my husband at sunset, enjoy the wonderful harmony in hearing my son's laugh, watch their joy as our dogs slather them with kisses.  It's the simple things that are very the best things.   

 



Rob and Theresa Capolongo said:

Hi Cheryl thank you so much for getting back to us.  Yes it has been an unthinkable time for my son and the whole family.  I appreciate your support.  I have done so much research the past few months and have looked into some of the approaches you have mentioned.  Does your son have Duchenne or Beckers?  How is he doing overall?  Are his muscles Strong?  

cheryl cliff said:

Hi Rob,

Welcome to PPMD and I hope you don't take this the wrong way but I'm very sorry you had to join up!  My husband and I have been at this a mere 3 years and distinctly remember those first few mos/year after receiving this horrible diagnosis.  I still get sad reading about another beautiful boy afflicted, and now here's yours. 

 

Our son is 12 (yup, no dx until age 9!) so we had to learn a lot faster than we wanted in order to get up to speed with care, chemestries, equipment... We still don't know everything, duchenne is an extremely complicated disease.   Fighting depression is a major part of what happens to families so you guys aren't alone there.  Your feelings of helplessness & hopelessnes are echoed throughout our entire community.  Duchenne scares the s#!) out of me everyday and yet I've been at this about 1200 days.  Although my hatred for duchenne continues - living with it is doable once I found the coping skills and a few tools along the way. 

Please don't give up on your 4 year old, if you do-my 12 year old is doomed.  Plus I truely believe (have to since it's one of those coping skills) exon skipping, myostatin inhibitors and new heart medications are on the way.  Not to mention several other approaches.  I fully expect the ones I just named will be here in time for my son...and yes yours too! 

Dear Theresa and Rob,

Our boy was diagnosed with DMD just in one month ago. We have the same feelings ; same pain, same fear...

But our sons need strong mom and dad to be with them in this tough journey. Take care.

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