My main question is: No Gower's sign= no Duchenne?
My son is 5 1/2, and we are waiting to see the pediatric neurologist. Originally, when I brought him to the orthopedic specialist, I thought I would just be told he had something odd going on with his feet, and maybe he'd need braces or surgery. When the ortho referred us to neurology, I started reading. I realize now, without even having been tested yet, that my son has some form of muscle or nerve disease. It is undeniable. Through lots of scary and painful reading, I am 95% positive that I will be told my son has either Duchenne, or Charcot-Marie Tooth.
He shows a lot of early signs of Duchenne. It's breaking my heart. However, one sign that he does not seem to show, at least not at this time, is a positive Gower's sign. He stands up with only slightly more effort than my healthy 7 year old daughter, and definitely doesn't "walk his hands up his legs". He pushes off his thighs once to get that final "oomph" to stand up straight, but my daughter seems to do that too, so I think that's normal.
The signs that he shows seem to be shared by both Duchenne and CMT; easily fatigued when walking, trips and falls CONSTANTLY, foot drop, obvious foot and ankle weakness to where his left foot/ankle is beginning to collapse and deform by turning inward and walking on the edge, can't jump more than a few inches off the ground, collapses when he tries to jump on the trampoline....grabs the railing for dear life when going down the stairs (but he CAN walk up the stairs still without holding on. He seems tired, but does it with little trouble), leg pain, pain when you tap on his achilles tendon....
So, my question to parents out there is, although I know nobody here (not even me... or Google.. I know...I'm making myself crazy) can diagnose my son,
can you tell me if ANYBODY here had a child diagnosed with Duchenne who did NOT have a positive Gower's sign, or is that an easy way to rule out Duchenne?
It's March... and we still have no answers. This is an incredibly frustrating process, for sure. We know that it is not Duchenne based on CK results, we know that it is not any kind of tumor, growth, or brain damage based on MRI.
So at this point, they are pretty sure it's some form of progressive muscle disorder or progressive nerve disorder. We are waiting (far too long) for an EMG. He starts wearing AFOs next week.
I am beyond grateful that he does not have Duchenne.... though now that I have learned as much as I have about Duchenne, my heart breaks for all the parents out there who carry that burden. I can even log onto the site and see the "End Duchenne" banner without tearing up.
Nonetheless, I am frustrated. He is still worse than he was when I first posted this. When I first posted, he could jump a few inches off the ground. Now, he can't jump. He can sort of do a hoppy little step forward, but he can't do a two footed jump. I hope the EMG point us in the right direction.
In the meantime, does anyone here know of a place to get really cool AFO socks for little boys? Everything I'm finding is a snoozefest, and I need ways to make him think they are 'so cool'...because I'll be honest... he does NOT want to wear them.
You can also try calling them Moon Boots or something like that, or tell him that's what Storm Troopers wear. Good luck. A.
(Whoops-- I meant to say 'I *can't* even log onto the site and see the "End Duchenne" banner without tearing up', and mourning for the families who are losing their sons)
Thank you-- he doesn't seem to buy into it much when I say things like that though... he sort of gives me this look like, "Mom... I'm not a baby. I KNOW what these are." --Sad that my not-even-six-year-old doesn't go for fantastic little-guy stuff like that!
EMG is next week, and hopefully then we will know if we're looking more deeply into muscular dystrophies, myopathies, or progressive nerve disorders.
We bribed him. Put a quarter under each strap at night. He got to keep it if he wore them all night and put it in his bank each morning.