New Here...Waiting for Diagnosis...

Wow what a interesting and mildly devastating past 2 weeks...Our gorgeous, rambunctous, sweet Trey man has our heart breaking... 2 weeks ago Trey decided to be Superman...he realized he can't fly and dislocated his elbow, after a trip to the ER and sedation to put his elbow back in 'spot', he was casted and sent home...

At our doctors appt. on Monday, to our surprise we had a new doctor. She is great...This happening often when you live a life such as ours ~ I'm a physical therapist (currently not using my degree LOL), my husband in the US Navy. Anyhow, our little Trey man needed his last Hep A and I have been mentioning for some time now that our son tippy-toe walks, and hasn't been going up the stairs properly, and runs in a weird fashion...was told that he wasn't going to be a star athlete and that was that. She finally requested that we have his CPK levels tested...

Well his CPK levels were at 29000...things are looking doom and gloomy now... Yet I wonder if I am fooling myself by thinking that the immobility of his arm being casted, the sedation drugs from the arm reset, and the Hep A vaccination, and 7 needle sticks to the same arm (because of the other being casted) can't have something to do with it...especially since they were all within 3 days, and the Hep A within 20 minutes of the CPK.

We are waiting to be contacted by a Ped Neurologist... There is no doubting that Trey (who is 4) has some movement issues, but I have a few questions for you all if you wouldn't mind answering...

Did your sons ever appear to be sick or have difficulty breathing, etc, in the beginning stages? Trey has never ever even been on antibiotics, never even had a cold or an ear infection or a cough...I know weird but true...we've been blessed on that part...

Did your sons always present with the Toe Walking, Gowering, difficulty going up stairs? Trey has ALWAYS toewalked, has always gowered, and has always taken his time up the stairs... But he only does those things SOMETIMES...sometimes it seems to me that he does it because he can and because he is so short, and it's just a habitual thing. From what I have read children start showing these symptoms...don't carry them from birth...

Trey was walking by 13 months completely unassisted...and has never seemed overly clumbsy, and never complains of being tired or his legs being sore. Did your boys complain of being tired/sore? Or were they so 'used to it' that they never thought anything was out of the ordinary?

How high were your sons CPK levels at diagnosis?

Did it seem to improve for awhile (maybe it's my false hope)? Trey, over the past few months, I have seen a marked improvement...like he is starting to go up stairs better (never had a problem going down), I have a problem keeping up with him now when we go on walks (although I am pregnant with a girl), his running seems more coordinated, and I can't remember the last time he fell (other then the superman stint ~ crazy boy!), his calves have always been very defined yet are definitely thinning out...it at times just seems to be a bit backwards...there is no doubt that he has a muscular problem, I'm not denying that, I unfortunately can't...

This waiting is killing me, and I just want your imput on all of this, I try and search the internet and it seems I don't exactly get my questions answered...we've never had anything like this in our family...maybe I'm in denial

Thank you and many blessings!

Cori (Trey's Momma)

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Comment by cheryl cliff on September 11, 2009 at 12:02pm
You are welcome Cori !! And, no matter what happens please let us know how things turn out. If it's not DMD we will breathe a sigh of relief that your son got to dodge this bullet. If, god forbid, things go the other way just know we are here to help you in any way we can. You see, thats what we are here for, because we can't cure our own sons, at least we can try to help ease the burden of others a little.

I too used to yell at Alexander's slowness before I understood why it was happening. Can't describe how that makes me feel now that I know and look back, worse than guilty. But I have learned to forgive these things in myself and others because guilt (or worse) is additional negative juice on an already overloaded emotional system. Overload makes it extra difficult to keep up with the juggling act required by DMD and I expect other diseases as well.

stay well, for Trey
cheryl
Comment by marcie macek on September 9, 2009 at 9:57pm
My son was always sick. ALWAY! He did not walk until he was about 16 months and it was more like holding on to things. My son is also autistic. I was an on the ball mother but never thought in a million years my son would have DMD. I am not a carrier. I never would imagine such a thing to happen to a woman that always cared, always gave and had a big heart for all the underdogs of the world. But as, you can tell. My luck was not good and it carried into my son's life. I feel a lot of the guilt you feel but the difference for me now, is how i get frustrated trying to care for my son at 14. It is the hardest life trying to care for him and him not understanding what the heck i am doing most of the time. His frustrations are sad. Anyway, i am rambling. If your child has md it is a hard life but i want you to know. You as a mother, think your life is over and you don't care to breath the air you breath. I thought i could not do what i do. I can , you can , you do. You be the best you can , as strong as you can. KEEP ON TRUCKING NO MATTER WHAT. I always say the serenity prayer. There is nothing we can do, these are the cards dealt to us and our babies. I only have one son. I feel like when he is gone i am going to just give up on life. If i allow myself to go there mentally. I will crack.. I can't let myself. So be strong and know that as sick as it sounds... your life was already planned. Nothing is your fault and you will survive. Also, remember.... SOMEONE ALWAYS HAS IT WORSE. I have to keep telling myself that.

Good luck... and i won't tell you that god only gives you what you can handle... if i hear that one more time...uggh
Comment by Wyatt's Mommy, Melissa on September 5, 2009 at 6:37pm
My son was diagnosed at 10 months. He is 18 months now, he still isn't walking. You can go to HIS page and read all about our situation. Wyatt's CK was also 29000 the first time it was checked. I will be hoping and praying that everything goes well for you tomorrow. No matter what the future brings, I have found a lot of love and support on this site. And I'm sure you have in the short time you have been on here. God Bless.

Wyatt goes to a physical therapist locally (seattle area), but goes to Cincinnati for the rest of his care.

Melissa
Comment by Dina on September 2, 2009 at 7:36am
Good Luck to you and your family!
God Bless,
Dina
Comment by Cori on September 2, 2009 at 2:13am
I just want to take a moment to thank all of you wonderful ladies for replying and for attempting to help and for all of your prayers and words of love. Although I don't quite know if you will see this or be notified that I thanked you all, the responses of each of you have helped me more then words can say...unfortunately though for all of you I would like to 'be in this on my own', how many times ~ although we still don't know the diagnosis have I wished this health 'issue', prayed that whatever was going on could be transferred to me, wished that no other family has to go through with this, it is nice to know that I am not alone in this uncertanty.

It, I guess feels like I am playing this mild form of Russian Roulette with myself... Do I force him to do the amount of activity as normal (I have been trying to 'fix' whatever this is previous to finding out his CPK levels) or do I empathize with him being tired (although he never says so, the numbers show it) and lay off... And then it seems to go too far and I see him going up the stairs and I just want to pick him up and help him out, though I know it doesn't work that way, so I still make him go up the godforbidden amount of stairs in our home...then I feel sad that I made him do that... Or getting into the car, how it takes him forrrreeeeevvver, how I used to yell at him for taking forever (though it never sped him up), and now I still want to be like 'come on Trey!', but what if he can't, what if he is going the fastest he can? It's awful this game we play with ourselves isn't it???

Again we still have no clue as to where we are headed with this or even if this is what he has, but I will always, regardless of what is the final diagnosis, have each one of you, your sons and your family's in my heart and in my prayers.

Cori
Comment by Darcy Tumminello on September 1, 2009 at 6:37pm
Cori,

I wanted to share our story since my sons CPK was 29,000. My son walked at 12 months. He was adopted and MD does not run in the birth family. My son had his tonsils and adenoids removed at 2 and 4. He never gets sick with the commons colds or flus..he always seems to pick up the different things, not often. My son was 5 when we learned of his DMD. The primary told us she thought it was Beckers even though his cpk was so high...I still hope it's beckers but Nero diagnosed with DMD (possibly an outliner) He is 7.5 and does not toe walk, he plays coach pitch ball and currrently on steroids runs as fast as the kids in class. Keeping your family in our prayers! Keep your chin up and surrond your family with love and support!
Comment by Ofelia Marin on September 1, 2009 at 9:13am
Our son was diagnosed through a newborn screening pilot study conducted in Ohio. I never heard of Duchenne before, do not have family history and I am not a carrier. The shock was huge when they called after 3 months to tell us that he has it. He was born 8 lbs 7 oz and had no problems whatsoever. He is now almost 2 years old, did not have any breathing problems, ear infections and did not have to take any antibiotics. He met all his milestones timely (he doesn't toe walk at this point) although recently I started noticing that he is a little slower than some of the kids his age, not a significant difference at this point though.

Had we not agreed to have the newborn screening, we would have no idea about DMD at this point.
His CK level at birth was 2500, 8000 at 3 months and 20,000 at 8 months.
Comment by Tina on August 31, 2009 at 11:01pm
Our son was 3 1/2 y/o when he was diagnosed. My mom, a retired OT suggested a ped Neuro consultations since our son could not jump off the ground, fell easily, and struggled with climbing. His CPK level was 21,000 and his muscle biopsy ( a month later) showed no dystrophin. I was in total denial especially around the age 5 since his gross motor strength seemed to improved and he seemed only slightly weaker than his peers. We started him on prednisone when he was 3 1/2 years old.
HOping your son is not diagnosed with DMD. Prayers sent your way!
Comment by Dina on August 31, 2009 at 7:35pm
Cory,
Just read your post and wanted to answer some of your questions. My son never had breathing problems and I never really thought anything was a problem when he was a little one. He just seemed to be a little slower than his older siblings. I just figured that he was just a little slower, Until we moved back to Nj from Florida. I thought nothing of it. It was the school physical therapist that suggested he get checked for MD. Had no idea what was to come. His CPK level was 21550 and we had to wait until after Christmas time to get the news. He was 6 yrs old. We had no problems with our other 2 children and no one has this in our family. I know the waiting game is agony. Whatever happens is Gods plan and we must stay strong for our boys. Hope I answered some of your questions.
Take care,
Dina
Comment by cheryl cliff on August 31, 2009 at 5:01pm
Hi Cory,

Sorry to hear of your concerns regarding your son. All of us here at PPMD hope to god your diagnosis goes a different direction, something NOT DMD. I know your stress while waiting, our dx came a couple of years ago and that waiting torture is etched in memory for good. Our son, Alexander - now 11 - did not present symptoms in the expected DMD way. He seemed almost "normal" often enough, sort of how you described seeing improvements in your son's abilities from time to time. Alexander was mostly slow going up stairs but just prior to dx he improved, started to go up fast like his brother (not DMD). Looking back at it now it seems sort of odd. He never complained of being tired but was real unhappy being slower physically than others his age. Toe walking started later than most from what I understand, gowers wasn't there during toddler years but came later as his body grew. We have no family history and I am not a carrier so this came completely out of the blue as it sometimes will. Alexander was 8 when diagnosed, he still walks and "runs" some too.

Try not to worry too much, although I understand how difficult that is right now. Even in the worst case, ie he has DMD, there is a trememdous chance treatments and medications will become available in time to save your son since he is still little. Look under the research section here at PPMD to find what is coming down the pike. If you sent your son's DNA to Univ of Utah they can tell you (if he is positive for DMD) where his mutation is located on the dystrophin chain. Some upcoming treatments are mutation specific, some meds are coming faster than others.

My prayers that Trey's CPK levels are because of another reason-
cheryl

ps, like Susan we are in California too, Riverside.

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