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.

MDA Telethon

This weekend is the annual Jerry Lewis MDA telethon. I remember collecting money in a can when I was little. I honestly never thought about it in my adult life-until it hit home.

I know I will be watching this year. Check out your local TV station and if you are able, make a donation. It supports all kinds of Muscular Dystrophy. Duchenne is what my son has.

We have a clinic appointment coming up at the end of the month. The MDA pays for these clinics! It is a wonderful help to folks dealing with this devastating disease.

WSYX ABC6 On Your Side Top Story - Don't Miss ABC6's MDA Telethon on Monday

WSYX ABC6 On Your Side Top Story - Don't Miss ABC6's MDA Telethon on Monday

It's time for the Labor Day MDA Telethon! Be sure to watch and donate if you can!

Be A Star: Laura LaPat

Be A Star: Laura LaPat

MDA Telethon-Be a Star!

We have signed up to help with the fundraising effort for the MDA. We are huge benefactors of this organization and we want to try to give back a little. The MDA pays for all of Ben's clinic visits, and also provides funds for equipment repair, summer camp, and research.

If you are interested in donating to the MDA for the Labor Day Telethon, just click the link!

My Comfy Spot

I have been sitting in a comfy spot recently. This comfy spot consists of pretending nothing is wrong with my son. It is so easy to do. It's comfortable. Knowing that he has a fatal disease is always in the back of my mind somewhere but I am not dwelling on it right now. Right now, we are living it up and enjoying life! Plus, the simple fact that I have 6 children keeps me busy enough to not have to think about it all the time.

Today, I made appointments for all my kids' yearly check-ups. I usually try to schedule them 2 at a time so I only have to go 3 times instead of 6; it's just easier that way! This time however, I requested that Ben be seen by himself. I have a lot of questions for our pediatrician that I need to have answered. One of them being, why haven't we heard from him in the 7 months since our diagnosis. I mean, if I was a doctor and had a family that I have been seeing for 15+ years, I think I would call or something after learning one of them has been diagnosed with a life-threatening disease. But I guess that's just me. I am no doctor, just a mom. I was grateful that Ben is also 1st out of my 6 to be seen. This way, I can get it all out in the open before all the other children are seen.

Ben will also go back to the place where we have ordered his night splints in a few weeks. They have been ordered and we will go in for another fitting. We will then begin wearing them each night, all night, to keep his heel cords stretched. This will prevent the need for surgery and will also keep him walking longer.

I made the mistake this morning of reading a thread on facebook from another DMD mom. I have been in my comfy spot for about 2 months, all the while still researching and reading everything I can on DMD. This morning, however, I read someones' status about remembering the life of a loved one, and not their death. Then I read the comments. Bad idea :o( These folks have all lost sons to DMD, and some of them were young. I felt myself slipping away from the comfy spot.

But, I like it there too much and I think I'll just stay for a while.