IT's really nice to meet you by the way but I need to ask you a question and hope you can help me. My son has just recently been diagnosed with DMD and I am wanting to start some kind of funding around here for him like a walk and little things like that, and maybe have the police department and fire department play baseball to earn money to find a cure. How would I go about this? I don't have alot of money but I want to fight for my son's life. I want to help out every little boy out there with this disease. I just want to save a life for someone.
Hi Pat! I still haven't had a chance to contact you, but I would still like to. =) We just returned from my son's first MDA clinic appointment at Duke University in North Carolina. We have had some major issues with the MDA clinic in Jacksonville, Florida, so we just decided to return to where he was diagnosed. I hope all is well with you!
Great to meet you and all of the other wonderful participants in Vancouver. It was an incredible experience for me and everyone else too, I'm sure. Very moving, especially the introductions by everyone at the begining...great idea!
I will be contacting Vee and Kelly to talk about helping with PPMD Canada any way I can. I am just learning about using this incredible website, so any suggestions as to how best to utilize/ maximize it? (I may need a tutorial).
Oh yes...do you know what your plan is for Toronto with a PPMD branch there?
Just wanted to send along a quick update. Ryan Lochte was in Washington DC last week. His spoke with our champions in the House and Senate about the reauthorization of the MD CARE Act and how important it is to all of us. As you may know the Bill was introduced in the house and passed (2-no votes). For the last few days we have been in discussion with Senate staff in an attempt to move the bill before congress adjourns. We have negoiated some minor changes in an effort to make sure Senator Coburn will allow the bill to move. The senate is considering the bill right NOW! The teamwork of our PPMD Advocates and our champions in Congress have made this day possible. Before the end of today, we are hopeful the MD CARE Act will be reauthorized. Cross fingers and Pray!!!
We are doing as well as can be expected. Long time since the tractor pull days in Covington Tennessee. We continue to raise funds in Tipton County Tennessee and do what we can. Brice fell and quit walking a year ago. Since then he has been getting worse. He turned 19 last month. He has been on deflazacort since his 5th birthday. We read your comments on a regular basis. Thanks for all you do. Keep us in mind.
Unfortunately there is no data that correlates the ck to severity. Clearly execise will increase the ck level, but we just do not know if the boys are stable (for instance) right around the 5000 ck as opposed to those with higher levels will have different progressions. There are so many factors to include specific mutation (in-frame or out-of-frame), genetic modifiers (other genes that might be up or down regulated and modify disease progression) and the regular stuff such as exercise, weight, nutrition and environment. There are the general guidelines of course about progression in terms of milestones, but I think improved care, steroids, growth hormones, supplements have changed the natural history of the disease. I am sorry because I know you would like some hard facts, something to count on, but frankly things are changing so fast (which is good news!) that it is impossible to predict.
Thank you, Pat. I have been on the website quite a bit over the last year or so, but never registered. This is a wonderful website and there is so much good information. I read the message boards quite frequently as well. I would like very much to be able to attend the conference in the coming years. Thank you for starting such a helpful organization for all of us that are impacted by DMD.
I can't thank you enough for all you do for our boys with DMD. Run for Our Sons has meant so much to me. I have a question about CPK levels. I have heard a lot of different numbers regarding CPK levels. Some are 10,000 , some are 22,000, and all at different ages. I wanted to know if your CPK level had to do with the severity of the disease. Do boys with lower CPK levels walk longer, live longer, and do better than boys with higher levels, or does your CPK level not even matter? I would think that the higher the number the more muscle break down you would have because more would be secreated in the blood stream. I just would like you to clarify that for me if you can. It may just be a stretch of hope for me since my sons is 6 and his CPK is 5000. Thank you
My name is Tonya and my son Gavin who is 2 has DMD. I really admire you so much as a person. You have come so far for all of us and your boys. I can't even imagine everything you have gone through and I thank you so much from the bottom of my heart. How much courage and amazing strength you have. I just wanted to ask you a few questions and see what your thoughts are.
My story seems to be different from so many others. I had a first cousin who had DMD and he passed away in 1989. I was only a teenager at the time. My Mother had been tested way back to find out if she and my sister at the time were carriers. This was back in the 70's at that time they could not definitavely tell her whether she was a carrier. Time went on and my sister wanted to have kids and she was told they needed everyone's blood to check for markers or something. My cousin had passed away so many years before and we didn't have his DNA. We were told that it would be extremely difficult to tell us if we were carriers without knowing my cousins mutation. I then checked with a genetic counselor about 5 years ago before I became pregnant with my daughter. Same thing that it would be very hard to know without my cousins DNA. They did find a muscle biopsy, but they told us they did things differently and it was so old it couldn't be read. They also told me that it does pop up in about a third of the cases. There had been no other cases in the family in fact my GrandMother had 5 brothers and they were all healthy. Anyway, my husband and I talked about it and we knew we wanted children. We went ahead and had our daughter and then our son Gavin came 16 months after. I had always been nervous of having a boy not knowing if I was a carrier. I did my own research and found out that a simple CK test could at least ease my mind. We'll it didn't it came back at 18,600 and a week later 22,000. We went on to be diagnosed with a deletion of 48-50. Turns out My GrandMother was a carrier, my Aunt, my Mother both me and my sister and my daughter. The only one in the family it missed is my 10 year old niece. Seems to be very strong in my family, but I was the only one who had a boy since my cousin Mark. I find it really difficult to deal with because I feel so guilty about it. I feel that since I had a very close relative with DMD I should have known better. Honestly, I wouldn't change a thing because I love my kids so much and a disease does not change who a person is. I wouldn't change having the two kids I have. I know my cousin Mark was such a wonderful young man, he had the best sense of humor and always was positive he lived to be almost 27, but not nearly long enough. I am hoping things are changing for these boys. I wanted to ask you if you believe some of these therapies will be available in the next 5-7 years or so? My son is only 2, do you think it will be in time for him? If so do you believe that things will be different than it was 20 years ago? I know that nobody can give me definative answers at this point. I do have a lot of hope, but sometimes listening to the first doctors we saw they gave us a very grim outlook. In fact I approached them with exon skipping, CoQ10 and various others from just the limited research I had done at the time. They knew nothing, they told me they had never heard of exon skipping and I asked if there will be something to help these boys down the road. They told me not to count on it. I just can't accept that. I now am happy to say we fly across the country to see Dr. Wong. I don't know if the genetic counselors were correct in telling me without knowing my cousins mutation they wouldn't know for sure. That is really haunting me, but at the same time I know I will be going forward doing everything I can. I just wanted to hear your thoughts or any advise for me? Thank you so much!
I haven't had a chance to call you, but I would still love to talk to you. I just read your post in "Duchenne Parents" about the different docs that specialize in Duchenne. I have to say, we just moved to Florida from North Carolina, and we are VERY dissappointed in the MDA here in Jacksonville, FL. They have been rude, and have been giving me the run-around about our appointment. Ryan was diagnosed in May at Duke by Dr. Edward Smith. We have actually decided to make the trip back to Duke for his MDA visits. I just feel that we are going through enough and we don't need the red tape and the rudeness while we are trying to do what is best for our boy. Dr. Smith at Duke would be another doc to add to your list. He is wonderful and has done everything he can for us.
I wanted you to know that having knowledgeable people like you, who genuinely care about our boys is wonderful! Thanks so much!! I will try to call you this week sometime.
Hi, yes there is a chart. I cannot paste it into a post, but will speak with Ryan/will to get it up on-line. Keep in mind we collecting genotype/phenotype information is an ongoing process While we can make some 'guesses' about the presence/absence of certain isoforms and what happens, it is not absolute because of the genetic modifiers that alter circumstances. Unfortunately, sometimes things are about as clear as mud, but it will give you some ideas.
Is there a chart that can tell us what mutations have what problems?
With certain mutations, physicians/researchers are able to suggest that (for instance) based on the mutation, the isoform for cardiac dystrophin may be absent or the isoform for brain dystrophin may be absent and in these instances, we might see huge cardiac problems or behaviors such as autism spectrum. We are learning more every day about these issues, again remember that our genes are influenced by other genes as well as external
Thanks so much for responding. I know how busy you are. I can be reached at (904) 460-2446 at home. My cell got wet yesterday and isn't working, so home is the only place to reach me. Thanks, Pat!
Thank you for coming back to me. We are only using Prednisone at the moment and it is working for my son Kevin. He is 11 1/2 and still walking. As I mentioned I have only read a little about Glyconutrients and have not finished reading the book. They just mentioned DMD in it and I was interested to know from someone who knows much more than I do as like you say, it does not help spending time and money on things that there is no evidence about. Was just an interesting subject.
We did not get to go to your conference and hopeful that one day we will be able to attend too.
Have a great week and thank you for your reply, know that you are a very busy lady.
Kindest Regards Jo-Anne
The conference this year was my first. I just want you to know how worthwhile it was for me. I truly appreciated how approachable everyone was, including parents, doctors, researchers, and the PPMD staff. Thank you and your staff for putting together such a fabulous event. I am already looking forward to next year.
I just wanted to also thank you and all PPMD for the opportunity to attend the conference, meet families, researchers and doctors.
As always the conference offers all families hope. It is a stressful time and hard time for some but we have more opportunity than we have ever had before to hope for our families. I truly believe PTC 124 is only the beginning and its success will open doors in other areas. We can learn from challenges we have now and work towards improvement.
We are moving forward to new territory and as a community we need to stay educated and aware so we can help in whatever way we can to support one another.
Thanks to you and your staff for putting on the Conference. It was nice to get to meet other families and hear from all the doctors and researchers. It was our first conference and I was amazed out how easily accessible the researchers are.
Thanks for everything,