So my son is 5...we live in Dallas and have seen Dr Iannaconne. I am looking to go to CCMC in Ohio or Texas Children's in Houston for second opinion. They have tested doug genetically twice and he has come back positive for deletion in 50...but his CK's all come back right at 100-300. My specialist here is stumped. They did a double x test on my son, and there is no double x. Does anyone have any direction or similiar things with a child who has DMD but has normal CK?

 

The doctor here wants to "wait and see" but I think i shold be doing something more. That's why I'd like to go to CCMC. But I am a single mom and have no idea how I would afford the 1500 plane ticket.


Any advice?

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That's the same deletion my son has, but his CK levels have left no doubt. I definitely think your son has something else going on that might actually be helping him. I'm quite sure Dr Wong in Cincinnati would be very interested in seeing your son. When we've had trouble with expenses before, we've used Careforce through Continental. I'm not sure if it or something similar still exists since they were bought by United. We also used Northwest Cares. Again, they were acquired by Delta, so not sure if a program still exists. But both covered our flights to and from Cincinnati. There is also Miracle Flights.

My advice is to contact CCHMC and get an appointment. Then you can contact the various programs for covering your flights. I would not mess with Texas Children's. I use to live in Houston. We went to CCHMC. You should also contact Guest Services after you have your appointments. They can help you get discounted rates at hotels. There is also a Ronald McDonald House by the hospital. Call them 24 hours before you're scheduled to arrive to get on the wait list for a room.

Laurie

Really?  You didn't find any help from Houston? Wow this Dr Lotze from their says he is really well known in DMD.

cherisse, a cpk of 100-300 should not result in symptoms, i'd think.....why did you get him tested?

Because his sister is a manifesting carrier for Duchenne's and because he has some minor physical delay, trips, and complains of pain and tired at long distances (like parks, amusement parks,etc). They have tested him twice to make sure that there wasn't wrong with the test. He does come back genetically for it, they have no idea down here why his CK's are not coming back over 10,000. That is why I want someone else to look at him. The neuromuscular said they have never seen a patience who is male and is positive for DMD on all test...but has a normal ck.

Thank you Laurie, I did reach out to Delta and they had no idea what I was talking about. I did contact Miracle Flights and Angel Flights. Both said they could possibly help me. So I will keep my fingers crossed. Let's just hope Dr. Wong can give me answers.

Laurie Paschal said:

That's the same deletion my son has, but his CK levels have left no doubt. I definitely think your son has something else going on that might actually be helping him. I'm quite sure Dr Wong in Cincinnati would be very interested in seeing your son. When we've had trouble with expenses before, we've used Careforce through Continental. I'm not sure if it or something similar still exists since they were bought by United. We also used Northwest Cares. Again, they were acquired by Delta, so not sure if a program still exists. But both covered our flights to and from Cincinnati. There is also Miracle Flights.

My advice is to contact CCHMC and get an appointment. Then you can contact the various programs for covering your flights. I would not mess with Texas Children's. I use to live in Houston. We went to CCHMC. You should also contact Guest Services after you have your appointments. They can help you get discounted rates at hotels. There is also a Ronald McDonald House by the hospital. Call them 24 hours before you're scheduled to arrive to get on the wait list for a room.

Laurie

I've never heard anything good about the Houston doc in relation to DMD. I'll see what I can find on flight help as we will be needing it, too.

Did the clinic in Texas recommend steroids?


No they didn't reccommend steriods. They said steriods while only slow down the process, and he is "already slowed for unknown causes" So the steriods would do nothing for him. When I asked what we should do next. She said that we have to "wait and see..come back and see me every 6 months. When he starts to get sick then we can do steriods. " 

 


Keith Van Houten said:

Did the clinic in Texas recommend steroids?

Just a thought starter...   If he's only 5 and has physical delay, pain, and falls - is his progression really slowed?

My son had the opposite case.  High CK and a DNA test indicating Becker.  Frequent falls.  Locally they didn't recommend steroids.  We went to Cincinnati and they put him on steroids.  He was 8 at the time.

If they've never seen a boy with low CK - how would they know that steroids wouldn't delay progression even more?

I'd recommend another opinion - Cincinnati, or any of the other larger, multidisciplinary clinics.

Hi Cherisse,

I would definitely recommend getting another opinion at CCHMC.  This really is perplexing because 100% of boys with Duchenne/Becker have elevated CK levels.  There are some dystrophin gene mutations that just cause familial dilated cardiomyopathy (DCM) and not muscular dystrophy, and some of these patients can have more normal CK levels.  But patients with DCM generally have smaller dystrophin gene mutations and not whole exon deletions.  The deletion your son has (exon 50) is an out-of-frame deletion that causes Duchenne.  It could be that he has other genetic factors that are preventing or masking an elevated CK level.

Hopefully you will be able to find some funding for your travel to CCHMC.  I think Dr. Wong and her team could provide some very helpful insight into this situation.

Good luck!

Ann

Ann Martin, MS, CGC - DuchenneConnect Coordinator

Is it possible that he has a high level of utrophin which is helping to protect the muscles in the abscense of dystrophin? At the muscle biopsy my son had at diagnosis, the research doctor here (McGill University, Dr. Karpati, now deceased)  was doing research on utrophin and also stained for that, and it showed a high level of utrophin which he later said might lead to a more mild Duchenne phenotype. Simon's CK levels were in the 15,000-20,000 range though, at age 6 1/2 years. They have been down as far as the 300's, but on steroid. They don't even test it now because it is a very variable test and not that accurate at gauging progression.

Please get a second opinion when you are able. I believe MDA can arrange you an annual visit to one of the DMD clinics, but have no experience with this myself. Good luck in finding your answers. :-)   

Andrea

Are you sure they did the correct CK test? They might also (in the future) if the CK is confirmed want to do a biopsy to see if he has dystrophin (some unusual natural exon skipping or something). My son also has a deletion of 50 but very high CK levels.

Cherisse Lewis said:

Because his sister is a manifesting carrier for Duchenne's and because he has some minor physical delay, trips, and complains of pain and tired at long distances (like parks, amusement parks,etc). They have tested him twice to make sure that there wasn't wrong with the test. He does come back genetically for it, they have no idea down here why his CK's are not coming back over 10,000. That is why I want someone else to look at him. The neuromuscular said they have never seen a patience who is male and is positive for DMD on all test...but has a normal ck.

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