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Becker Parents

Members: 31
Latest Activity: Jul 2

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what's your all bmd mutation?

Started by Char Burke. Last reply by Amelia Nov 23, 2014. 7 Replies

DMD/BMD

Started by Darcy Tumminello. Last reply by Char Burke Jul 21, 2010. 7 Replies

How do you know in frame or out of frame?

Started by Lisa Anderson. Last reply by Lisa Anderson Dec 15, 2009. 3 Replies

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Comment by Tamara "Michael's Mulisha" on July 27, 2009 at 12:08am
Didnt know anything about it. How can I get more info?
Comment by Jessica on July 25, 2009 at 8:19am
Hi is anyone going to the Becker MD conference in Boston next Sat. I will be there.
Comment by Tamara "Michael's Mulisha" on July 8, 2009 at 10:38pm
Finally got Michael's biposy results. He has mild/moderate BMD. We are so very happy to hear this news. Its been a year this month that his DNA showed the deletion. We now have confirmed his diagnoses.
Comment by Char Burke on April 17, 2009 at 9:47am
Tamara - We go to Dr. Wong too. She is great. I think there is a type of dmd that is between the two types. When you say it's a 45-49 - is it a deletion or duplication? When you get the results of the muscle biopsy, pls post...thank you. Hang in there - sounds like your son has the lesser of the dmd types. I know it's hard - this is a good place to get support. Char Burke - Will mom, age 6
Comment by Tamara "Michael's Mulisha" on April 16, 2009 at 12:48am
Hello, my name is Tamara and we just got back from a visit with Dr. Wong in Cincinatti, Ohio. We never knew if Michael had DMD or BMD. His DNA tests came back saying DMD/BMD. So we were very confused. Dr. Wong confirmed to us he has BMD. We were very excited to hear this news. We are going to do a muscle biopsy in 3 weeks. Im looking forward to the results. Michael's mutation is 45-49 In-frame. His CPK level ranges from 5000 - 14,0000. A little on the high side for BMD I think. So we will see what happens with the upcoming tests. I just wanted to join your group to meet some of you out there.
Comment by Char Burke on February 28, 2009 at 11:13am
Jessica - I think Uni of FLA is conducting MRI's on DMD boys....She if you can participate. Char
Comment by Char Burke on February 28, 2009 at 11:12am
Hi - Our little guy Will is 6 years and his left side is slightly tighter than the right side. One of his feet ever so slightly turns out a little. I have never heard of femoral anteversion - but you could ask him how he arrived at the diagnosis and you could always get another opinion. You could have your PT look at him as well and measure how flexible he is....I think the only thing that would tell you about the muscle weakness would be an MRI. How old is your son? Char
Comment by Jessica on February 28, 2009 at 9:31am
Suddenly Evan looks as if he is limping on his right leg. He also doesn't seem to run normally. His orthepedic says he has a femoral anteversion which is not related. I am having a hard time believing that. Anyone else notice a side / leg weakening more that the other?
Comment by Jeff Trecha on February 24, 2009 at 6:52am
HI Char:
1) Defect - Point Mutation, Stop Codeon Exon 1, Point 3
2) Symptoms - John really never had symptoms when we where involved in his diagnosis. He was 3 1/2 and he was throwing up and complained of stomach and back aches. We watched him day-and-night for a week and found out he was not eatting much (only drinking milk and o,j,), We put him on 6-8 small meals a day and it took 3 months to clear up. BUT, in those 2-3 months he had lots of tests done. The CK was the red flag for us. It was 523, then 1100, then 2700 then 1500 then 7000 (every 2 weeks). Dr.'s never saw anything like it.
Took 1 1/2 years to go through blood tests, muscle biopsy, then Flannigan to get final diagnosis.
Today (5 years later) - Boys are still symptom free. Only cold weather and excessive outdoor play tires them out (little upper leg cramps). They come in and rest (or put in warm bath) for 20-30 min. and are ok to play.
Comment by Char Burke on February 24, 2009 at 1:07am
What about the symptoms that caused you all to go and see a neurologist? What about the CPK level as well? Thank you - Char
 

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