We have a little boy Diego, who is 5 with DMD and he takes Deflazacort (Calcort) - 12 mg daily. We just arrived to Disney in Orlando,Florida and realized that we left his medicine at home!!!!!! I understand he cannot be without Deflazacort more than 24 hours and Diego does not have medicine for tomorrow. By any chance, is your son using Deflazacort? If he is can we buy or borrow any from you?? We are willing to drive and go anywhere to get the medicine and we can replace within 10 days guaranteed. Sorry to bother you wiht this! but are trying to avoid major interruptions for the boys and extendended family due to this...
Thanks for your kind attention to this,
Here is my email and phone number: email@example.com or (513) 765-9416
From reading your recent blog it sounds like you have your hands more than full. If I were in your shoes I would start looking at other MDA docs in a close by area, while still trying to get in to see Dr Wong if she is your first choice. We did some "MDA doc shopping" in our area to find somebody we could trust. It took awhile but works fine for now. Besides that we also go to see Kevin Flanigan, Childrens Nationwide-Columbus 1x yearly. And, if you find Polly Sundeen at this site she can give you info on how to secure flights free or at a reduced cost for medical appointments. If you stick within the MDA system you probably will have little-no (?) medical charges for DMD care. We have PT available for free here in California, thru the local public school system. You might want to check with your local district-special ed- to see what is available.
So....I have two sisters as well ...I thought that if I was a carrier wouldnt my sister be to? My genetics specialist was actually really good and good to us. She started from a-z it is me that may have mis understood at that time it was all moving so fast. So can I ask ....who at this point would or do I need to test. My daughter is five and i kinda want to do the testing soon as I feel if i do it now i will know and would be able to tell her when the time is right and help her through her feelinds if she should be a carrier...I was under the impression that if there is MD in the family like in my moms than all the girls could be a carrier I guess I mis-understood. Its Ironic I am the youngest daugter of three and the son affected is the yougest boy of three??? Go figure/ Ironic isn't it? My two older sisters never had kids by choice and never really found the right person...it is interesting how things play out in life...and people question destiny...i see now that this was mine long before anyone new...I am going back soon to the genetics dr and it will be the first time back since getting the confirmation from Athena...I am so glad to hear that even though your sons condition has slowed down he is still walking at 15...little is better than none...
How old is your son Kyle? I thought I read on one of you posts that he was seven. I don't know, your genetic specialist may know genetics but I really don't think he/she is up on dmd. As it is dmd and not bmd your older boys would be displaying symptoms. You would be seeing something by now. How old are they? I was tested because I had two sisters. There is no family history of dmd in my family before my son, well before me I guess as I am a carrier. My mother was not tested as we didn't really see the point, aside from being curious. If I didn't have sisters I may not have had the carrier test done. They do say carriers have a higher incidence of heart issues. I have gone to the cardiologist and am fine. I would try not to spend too much time stressing about that you might of caused this in your son. Even if you are a carrier it is not as if you knew.
Derek, my son with dmd is 15. Not sure why but he seems to be doing well for his age compared to others with dmd. He is still ambulatory but the amoung of walking has been slowly decreasing. He still walks around the house but uses his scooter at school and we have a travel chair for distance. We are in the process of getting his first power chair. If all goes well we should have that by the end of this year.
I posted a reply to you on the topic of genetic testing. You may not have seen it so I thought I would write on here. I was very curious as to why the genetic specialist would recommend that your two other boys be tested for dmd. They are older than your son with dmd, right? I would think you would be seeing symptoms if they had it. I understand them saying your daughter would need to be tested for carrier status.
My son was diagnosed at five, his brother was ten at the time and it was obvious to us that he didn't have dmd, so no test for him. I was tested for carrier status, mostly because I have two sisters. I was positive they were both negative. My two daughters are aware that they have a 50% chance of being carriers. I have left it up to them as to when they want to find out. My oldest is 18 the youngest is 12. Recently I asked the older one if she wanted to get tested. She said it would be nice to know she is not a carrier but right now she doesn't want to know if she is.
In your situation it would seem that only your daughter really needs to be tested. In my situation I figured I would get tested and then if I was negative my two sisters would not have to get tested. My doc made me sign a paper that stated that even if my carrier test was negative that I understood that my daughters could still be carriers.
I really just wondered what the specialists reasoning was for saying your sons need tested?
I hate this too. Its so hard to believe that your son has this awful disease. I was so angry for so long and I am not going to lie, I still want to go "postal" every now and then. The best thing we have done so far was to see Dr. Wong. We felt like we have a "plan" now. We know where we are supposed to be and what we are supposed to be doing. We go back on the 7th for his biopsy on the 8th and to me, it is worth going back out there to her team to do this. Sure, I could have done it here but, Im putting my son's care in this team's hands out there and no one else.
I felt no hope for his future with my MDA clinic here in Phoenix. I am also not the first person to feel that way that went to that clinic. The thing is, Cincinatti invested millions of dollars to develop a team for DMD. Other clinics have not done that. Including the #1 childrens hospital in the states, Phillidelphia. I want to be where people are interested in my son and not another DMD case.
Im sorry you have to be apart of this community. I wish we were not having this conversation. But, we are, and this is the best website to figure things out. Ask me any questions, Im totally here for you.
I don't have your e-mail or phone contact info and apologize for the delay in response, but I was having internet connectivity issues during the trip and could not view PPMD at all.
If you haven't gotten in contact already for Doctor Wong, please contact Wendy Bommer at Cincinnati Childrens to begin the process. She is a WONDERFUL, understanding person who will work with you on the necessary paperwork and appointment scheduling. By pure luck and her vigilance, my son Eric was able to get in on a canceled appointment...
I don't know where your faith lies, but mine is in the Lord Jesus Christ. Look up the scriptures Jeremiah 33:3 and Habakkuk 1:5. I've made numerous copies of these verses and I read them daily. They sustain me along with many, many prayers from friends, family, and complete strangers who have heard about our news. Learn everything you can, meet folks in your area who are going through the same thing, get involved with your local MDA (if it is one that is active). You can do fundraisers through MDA and earmark them for Duchenne research. Also, don't hold your emotions in....call a friend, pray, talk about what you're feeling. Some days are extremely difficult, but like Pat Furlong told me....our sons are the same today as they were before their diagnosis and that the sun will shine again. Know that I'm praying for you and your son!
There is so much to talk about. Are you going to the conference in Atlanta in June? Give me a call. Call collect if you'd like. I have free long distance. My numer is 864-254-9190. I'll be up until about 11 tonight. Feel free to call me. Take care and keep the faith!
hi there, Im not sure what you mean by how are my boys doing, or how much you want to know. how old is kyle? i will tell you a bit about the boys, but know that the boys' progress at such different speeds that each case is different. austin was diagnosed at 3, it was obvious that something was wrong. he is still walking at 10 1/2, but uses a scooter to get around for distance.(i am not a carrier, and have a 18month old without duchenne) we found out about max ( age 7) as a newborn only because of his brother's diagnosis, he is still very strong, and doesn't show any symptoms yet. we dont know why he is so different, he has had PT and OT and been on deflazacort since age 2, so that may be part of it. as for the boys, they are both happy, and good natured, i think this disease is harder on us parents than the boys, at least so far. the boys also have learning disabilities, which is common in kids with duchenne, but get along well in school with extra help. i hope i have eased some of your fears, i suggest you learn everything you can, if you can make it to the conference in june it is a great time to learn from the best.become friends with some of the people on this site with older boys, you will be surprised that life goes on, it is heartbreaking at times, but for the boys it is just life. if you have more specific questions, feel free to ask, take care, jenn
hi, and welcome to PPMD website. i am sorry to hear about kyles diagnosis, but you have come to the right place for support and info. we live in vermont, and have 2 sons with duchenne, max is 7 and austin is 10. we take both boys to cincinnati children's hospital annually. you can call shirley salway at 1 518 636 2616. she is the clinical services coordinator, and will help you get started. we visited many local hospitals, but never found the expertise we found there. we also enjoy bundling our visits into one trip, we see dr wong as well as heart, lung, bone and diet specialists, and they are all experts in the care of duchenne. the hospital itsself is very welcoming, there are playrooms and the staff will help you get discounted visits to local attractions to help make it fun. at our last visit we were told to limit salt intake for instance, it has made a huge differece in austins water retention. we also were given lots of support, and time to talk about the boys. i dont think you will find a better place to go. good luck, and let me know if you need anything else. oh, it will take a while to get the first appointment, so call as soon as you can. take care, jenn