I copied this in from the other Parent Project message board and it was suggested I post here as well. So here it goes:
Well, we're new to this game here. My son was diagnosed with DMD initially on April 21st (one week to the day of his 5th birthday). Official diagnosis confirmed based on genetic testing on June 10th - point mutation. We SIMPLY went to the doctor's for his kindergarten physical and through very casual conversation his nurse practicioner decided to run a blood test (cpk)- I really didn't know why, nor honestly was I worried - afterall, there was NOTHING wrong with him. The only thing we noticed was some tippy toe walking that he started in the fall and progressed in to the winter and we thought (or I thought) it was because he didn't wear socks in the house and we tend to keep the house on the cold side in the winter, so I thought his feet were cold - I know, sounds stupid now, but have you ever gone out into your garage in the winter without socks on?? What do you do, you walk on your tippy toes.... Anyway, the nurse noticed his heel cords were alittle tight as well. At 6pm on April 21st, the call to end all calls came and my heart was broke, for what seems like forever. His cpk level was 4487. By the end of the week, we were at the University of Iowa Children's Hospital to work with Dr. Matthews, Neuromuscular Pediatrician in the MDA Clinic. This is her specialty. Because of his mutation, it sounds like he may be eligible for the PTC124 study. We chose to start him on steriods, deflazacort, first because of the risk he could get a placebo and that would mean a good year of no treatment. We really don't notice much difference with him as his symptoms are so mild and his doctor said we probably wouldn't notice much either (both preschool's he attended were floored - neither saw him as a "red flag"). After six months, we will begin the pretrial testing for PTC124 - the walking and the muscle biopsy, etc. He is handling the deflazacort quite well; alittle more chatty, if that's possible. He wears his night braces all night and is so cooperative when it comes to his stretches. To say that he is a trooper is putting it mildly and to say that he is carrying my husband and I through this is an understatement. My son's name is Kyle (5). He has a sister, Erin (12), who adores her little brother more than you can imagine. He also has a brother, Joey ("almost" 10), whom Kyle just adores. I guess I just wanted to reach out and say "hi" and well to say quite frankly how much this SUCKS!!!! A few questions/comments:
1. Our first order of deflazacort went through someplace on the east coast that went to Switzerland - um, really expensive $460... This time I went through Masters Marketing and holy cow the price difference, upwards of $300 savings (mainly in shipping and handling). My order from MM just shipped so hopefully they come promptly.
2. At what point did you talk to your DMD son's about his condition? Kyle doesn't have a clue, nor should he I don't think - he's 5 and as far as he knows he's just like everyone else - he does everything every other kid at 5 does.
3. For any dad's out there - how did you overcome the anger My husband is just really angry - he's such a wonderful person - he can't fix this one and I think it's killing him. He's always been such a "future" thinker and I've dealt with the present. Of course the "future" is really, REALLY scary these days...... ..
4. For the mom's - did most of you get tested? I'm scheduled to even though our wonderful insurance company denied the insurance coverage. I just think I owe it to my daughter since this could affect her as well (oh, that's one added stress to the anger in #3 above - ie. the thought that she may have to go through this as well).
5. Does anyone go to the University of Iowa and Dr. Mathews?? Your thoughts if you do? I've been very, very pleased with them and our main nurse is absolutely wonderful.
6. I read in one of the topics about the guide dogs. Does anyone have one? I guess if we were thinking of it, we should sign up sooner rather than later the way it sounds for timing.
7. I guess, finally, how do you get your faith back after something like this?
Well, that's all for now. Sorry to take up so much space, but I'm a woman, and we have to talk through our stress.....
PS. i'll add pictures and more family info shortly.