Mom of six beautiful kids. Ages 15-4. I am on the go everyday. I have a wonderful husband and great friends. I live in Toms River NJ and I am a stay at home mom.
About my family:
My family is my world. My youngest son Tanner 4 was diagnosed in March of 08 w/DMD. My kids are all so strong and positive. Tanners deletion is 3-36. They explained he has a Beckers deletion w/ a Duchennes progression. Our family is very close and we love to do fun things together. This took us for a huge loop but we are praying for a miracle!!
Name(s) of child(ren)/individual(s) with Duchenne:
Much thanks for sending message to me. I just joined PPMD for a few weeks. My son was diagnosed DMD though we are waiting for DNA test result. I do not know his deletion yet. I'd like to make friend with you all and want to receive yr advise as much as possible.
The biopsy will tell you for sure what is going on with Tanner. You just need to ensure you use a pediatric anesth. during the procedure. The procedure itself is quite simple and Liam was off to a party later on in the day after his. Everyone thought Liam was a Becker, but he's not. But we are intensely lucky that he's not in a wheelchair and that he still runs all over the place. But kids like Liam are extremely rare and we are completely blessed by what's going on with Liam.
I really feel, in my heart that our boys will be helped and the face of MD is on the verge of changing for the best ever.
Good luck you and Tanner - I will always be thinking of you!!!
Last year we didn't go to the conference because his diagnosis was still so new. We were still in shock I think. When in June is it? We are participating in the Rock and Roll Marathon on June 26th for Run for Our sons. I've looked for conference information about dates on the PPMD site but I can't seem to find the information. Do you know when it is? I think I'm in a better frame of mind too. It took a lot of tears, prayers and re-evaluting my life to get to a point that I don't cry every single day. About a week after we found out, I looked Wyatt straight in the eyes (tears flowing) and promised him that he would never see me cry again. (of course I still do, but I don't want him to miss a happy life because we're crying all the time.) Instead of tears, I raise money and awareness.
If you can get me some information about the conference or tell me where to look I would appreciate that very much. I would love to go!
We started Sam on Deflazacort when he was still pretty strong. He is still fairly strong and has good energy. It's really hard to know exactly what is having an impact on Sam. That's part of the reason we chose to have the biopsy done. We were looking for some answers. After the unusual results we are still looking.
Has your doctor discussed Deflazacort with you? We started talking about it several years before we decided to start Sam.
Sam sees Dr. Wong in Cincinnati. We are thankful to have found her since our doctors in Dallas aren't as proactive and up on the research.
We will be at the conference. In fact, we are going to bring all of our kids. My parents were going to keep the boys home, but they had a family emergency so we decided to bring all of the kids. Some of their friends will be there as well so it will work out okay.
I'll look forward to meeting you. See you Thursday!
Sam does have a large deletion too. Although it is in frame he has a Duchenne dx. Recently he had a biopsy done and the results were a little unusual. His muscle is not normal, but it looks better than they expected. The staining showed zero dystrophin present so we are not quite sure what is going on. Some other doctors are going to take a look at the tissue and see if they can make sense of it. He could be upregualting Utrophin, but we are not sure. We still have more questions than answers at this point. Sam is doing very well. He has been on Deflazacort for 2 1/2 years now and we are seeing a benefit from that as well.
I am not sure that this really answered any of your questions. We still have many ourselves!