Clinic October 2010

We had another good visit with Dr. Flanigan today. There is encouraging news coming with these exon skipping trials. Currently they are doing a trial skipping exon 51. (They are still enrolling for this! For more information, click here). So far, so good. If exon 51 goes well and is tolerated, then they will move to exon 44, and after that exon 45 (the one that Ben could benefit from).

He does want Ben to have another echocardiogram. He didn't say why but it looks like we will do that in the near future. His steroid dosage will be upped from 15 to 18mg. Overall, he said that Ben appears to be a less severe DMD boy. That is VERY good news to me. :o)

Here is another link to Dr. Flanigan's podcast. It features authors of publications of recent studies.

Update

It is hard to believe that it has been one month since I last posted! We have been B.U.S.Y.!

We were supposed to have clinic at the end of September but we were rescheduled. We will be going this week on the 6th. Again, I am excited and nervous at the same time. Excited because our last clinic went so well and nervous, well, just the whole nature of this disease. I still have many questions.

My most recent question is this: Can a boy (or in the rare cases of girls) be diagnosed with Duchenne, and have it progress more along the Becker's line? Becker's Muscular Dystrophy is less severe than Duchenne. From the research that I have done, it is on the same gene but to know for sure if it is one or the other, we would have to have a muscle biopsy. I don't know that I want to put Ben through this unless there was reason to. At our appointment in June, Dr. Flanigan seemed very pleased with Ben and how well he is doing. To quote him, "Ben is doing better than most 6 year olds with this disease". He also said to another doctor in the room something about Becker's. I know it may be wishful thinking, but I don't care. I am going to ask this week if there is a possibility.

Last week, I received a copy of the report that was sent to the pediatrician from our June clinic. It seemed positive overall. I wasn't sure what some of the numbers meant so I asked my DMD moms facebook page. They also said it was a positive report and that it appeared that he is doing good. Very exciting news to me :o)

He is doing so much more since he has been taking the Deflazacort! He has now been on it for 9 months. We do see mood swings, but they are not unbearable. He has not gained much weight. We are making sure that he takes his calcium and Vitamin D (among other supplements) every day. We want to keep him as healthy as we can!

Our family will be getting the flu shot for the very first time ever this year. I got mine this morning (because I was already at the doctor and it was offered) and Ben will get his this week too. The rest of the family will be in the next week or two. It was highly recommended to us that the whole family get this shot. The kids are not excited about it ;o)

That's it for now. I will likely update again after Wednesday's clinic.