Hey, Eileen - I am new at this and just wrote you a note thnking you for your encouragement and quick acceptance into this largely unknown community. I don't know if you got the previous note, so am doing it again! Your pictures are wonderful and such handsome boys! Thank you for making me feel less alone and you seem to be taking care of your family very well! You are in my prayers tonight. Jean
Sorry it took me forever to get back to you.
I was diagnosed at 5 years old, when I couldn't quite keep up with the kids in my Kindergarten Class.
my disease has progressed really slowly....
I can still walk quite a bit, but have to use a scooter for those long distances.
I have big calves, I lose my balance really easily, I cannot get up from the floor by myself, I can't run or jump, stairs are really difficult, and i need assistance getting up from chairs.
I still shower & go to the bathroom all by myself but getting up from the toilet is getting harder and harder.
Were currently looking for what devices are out there that could help me.
I have been on steroids for almost 3 years and they have really helped me.
By breathing is completly normal, but i have been having some heart issues, nothing really serious just an abnormal heart beat.
Wow, what a small world. I have a sister who has a business in Grinnell and lives just outside of town. My niece goes to
Grinnell college. You aren't by chance any relation to the DeLongs who have a business in Grinnell? My sister worked there for years in their art department before setting out and starting her own business. We will have to compare notes.
Hi! My son has had 2 DNA tests and they both have come back as unable to find a deletion or mutation. We are looking into more tests so hopefully we will be able to have some more testing done and they will be able to find it.
I replied to you previously. I finally got my genetics testing back. Surprise, surprise, I also have a 3-7 deletion. Did Dr. Wong suggest that you do anything (medication, etc)? My son is going to see her again in December, but my husband was going to take him. I am thinking that I should go too. Maybe I could even get in to see Dr. Cripe. I am feeling very anxious about the unknown. My symptoms have definitely progressed over the last 5 years or so. Looking forward to hearing from you. -Kelly
Hi Eileen! It's been so long since I've heard from you. I was so happy to see your name pop up on my email. Jordan is still doing quite well...13 years old, 8th grade and still walking (he's also a 3-7 deletion for anyone else reading this). He just has trouble walking long distances so we're trying to get him a scooter. Things have finally settled down for us and I have learned how to laugh and have fun again. Those first two years after diagnosis were really tough.
At 12:37pm on September 26, 2008, Lisa Jones said…
Thank you for adding me as a friend and welcome to the PPMD community.
Eileen, hey sorry it's taken so long to respond to your post,we have been without power for a week due to hurricane IKE. Did your cousins have heart complications? We recenlty saw the genetic cardiolgists and they told us that the deletions 3-7 typically have heart problems, starting at 14, We see Dr Wong in Feb and that is going to be one of my first questions to her. This caridolgist also told us that exersice made it even worse, I asked him why since it is so good for your heart when you don't have DMD and he shrugged his shoulders. Any way I wondered since you had some kin with the same deletion if this was true for them. Thanks
This is Dad, (Eileen Husband). ??I love that she is so involved, it was hard for me at first (24+ months) to even be able to discuss the issue with out getting all upset. She has been there for me and I hope I have been able to return the favor. (oh yea, she has been there for the boys too) :)
Wow, I can't beleive how similar our stories really are. I have been on this site everyday and haven't found anyone with a story like ours of the family history. Our family always watched the Jerry Lewis Telethon and always donated. I never imagined that our son would actually ever have DMD. I like you, talked to my doctor, consulted with genetic counselors, but my cousin was so much older and we didn't know what his mutation was. Like you my cousin Mark lived far away and passed away 20 years ago. We were told it would be very difficult to know for sure whether I was a carrier. My sister is a carrier too, but her 10 year old daughter isn't. Both of my kids are affected, Gavin having DMD and Isabella a carrier. Although I can't even imagine what you have gone through. Being diagnosed with breast cancer and dealing with the DMD. I'm so glad you have a wonderful husband to share your life with and be there for you through anything. I'm lucky in that area too!! I want so badly to be able to let the guilt go and sometimes I can. Then something even a small thing can make me feel it again. One thing that helps me is to just look at my little ones and honestly I can't imagine life if they had never exsisted. Also like your family members my cousin just always had a smile and lived his life. He had the best sense of humor and was no different than anyone else and really seemed happier than most. Here in Seattle when Gavin was diagnosed they told us they didn't know for sure if my cousin had really bad Becker or Duchenne. Obviously, it was Duchenne, he passed away at almost 27. Dr. Wong also confirmed that for us. I believe with her help the outcome will be much different for our boys. Also the fact that your cousins lived into their 40's is very encouraging for Jared and Calvin. I hope you know that you have really helped me. I appreciate so much your openess. I'm so glad you found me because I really feel that we can relate in so many ways. I would love to meet you and your boys sometime. Who knows maybe when we go to Cincinnati we will run into you. We are going this year in May. Do you go to the PPMD Conference? We couldn't go this year, but hopefully we will next year or the year after.
I see that you are listed as a manifesting carrier. What kind of symptoms do you have? I am waiting (have been for 2 months!) for my carrier testing to come back. Doctors have repeatedly tested me for arthritis, thyroid, chronic fatique, etc trying to figure out why I have physical problems; never thinking about genetics testing. I almost hope I come back positive, b/c it would explain so much. -Kelly