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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yes they did Three CK test to be sure...

 

His genetic test come from Emery and they have done that twice...the synopsis says "A deletion mutation in the DMD gene encompassing exon 49 to exon 51 was detected"

 

Then it says "A deletion mutation emcompassing exon 49 to exon 51 with approximate genomic breakpoints at nucleotide positions g.31,866,483 in intron 48 and g.31,762,608 in intron 51 was detected in this individual. Deletion of exon 49 to exon 51 of DMD gene results in an in-frame deletion in DMD mRNA. These results are consistant with a diagnosis of Duchenne/Becker muscular dystrophy.

Joni, CCMC, said that Doug could be a "GOOD" medical mystery. If he does have something else in him (they think here in Dallas it maybe a enzyme disorder called Costello Syndrome...which basically eats the organs from the inside out...but this is still un "maybe stage" they are testng his sister for Costello...I really hope it is not that...they said a few years back she had Muccopolysacridosis...and again has 10 characteristics of the disease but does not come up genetically positive for it). My children are a "unknown' and because of that none of the Doctors know what to do with them. I had one doctor actually tell me that eventually they will get sick enough that we will figure it out. Really? was that suppose to make me feel better...

 

Joni said though that if Doug does have something "helping" him it could help others. So maybe my son can help yours. I will let you know. I am still waiting to hear back about an appointment date. I did find two companies who are willing to fly us.
 
Ofelia Marin said:

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.

Cherisse,

Does your son have a deletion of exon 50 as you state in the first question (DMD), or a deletion of 49-51 as you say in today's reply to Ofelia, because then it would be BMD. Look at this exon chart .

A.

Andrea's right. If the deletion is 49-51, then the phenotype is Becker and could lead to milder symptoms and lower CK. I'm glad you found flight help. Would you mind sharing who they are through? I forgot to add, if your son is on Medicaid, they should pay for your trip there.

Andrea Cleary said:

Cherisse,

Does your son have a deletion of exon 50 as you state in the first question (DMD), or a deletion of 49-51 as you say in today's reply to Ofelia, because then it would be BMD. Look at this exon chart .

A.

Deletion of 49-51 is a BMD mutation. Your son has Becker, he produces truncated dystrophin and the low CK shows actually mild Becker.

Cherisse Lewis said:

yes they did Three CK test to be sure...

 

His genetic test come from Emery and they have done that twice...the synopsis says "A deletion mutation in the DMD gene encompassing exon 49 to exon 51 was detected"

 

Then it says "A deletion mutation emcompassing exon 49 to exon 51 with approximate genomic breakpoints at nucleotide positions g.31,866,483 in intron 48 and g.31,762,608 in intron 51 was detected in this individual. Deletion of exon 49 to exon 51 of DMD gene results in an in-frame deletion in DMD mRNA. These results are consistant with a diagnosis of Duchenne/Becker muscular dystrophy.

Joni, CCMC, said that Doug could be a "GOOD" medical mystery. If he does have something else in him (they think here in Dallas it maybe a enzyme disorder called Costello Syndrome...which basically eats the organs from the inside out...but this is still un "maybe stage" they are testng his sister for Costello...I really hope it is not that...they said a few years back she had Muccopolysacridosis...and again has 10 characteristics of the disease but does not come up genetically positive for it). My children are a "unknown' and because of that none of the Doctors know what to do with them. I had one doctor actually tell me that eventually they will get sick enough that we will figure it out. Really? was that suppose to make me feel better...

 

Joni said though that if Doug does have something "helping" him it could help others. So maybe my son can help yours. I will let you know. I am still waiting to hear back about an appointment date. I did find two companies who are willing to fly us.
 
Ofelia Marin said:

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.

Actually they have the description there: " in-frame deletion in DMD mRNA". Duchenne patients have OUT OF FRAME mutations and do not produce dystrophin. Your son does. In addition the very low CK levels show his muscles are quite normal. Congratulations.

Cherisse Lewis said:

yes they did Three CK test to be sure...

 

His genetic test come from Emery and they have done that twice...the synopsis says "A deletion mutation in the DMD gene encompassing exon 49 to exon 51 was detected"

 

Then it says "A deletion mutation emcompassing exon 49 to exon 51 with approximate genomic breakpoints at nucleotide positions g.31,866,483 in intron 48 and g.31,762,608 in intron 51 was detected in this individual. Deletion of exon 49 to exon 51 of DMD gene results in an in-frame deletion in DMD mRNA. These results are consistant with a diagnosis of Duchenne/Becker muscular dystrophy.

Joni, CCMC, said that Doug could be a "GOOD" medical mystery. If he does have something else in him (they think here in Dallas it maybe a enzyme disorder called Costello Syndrome...which basically eats the organs from the inside out...but this is still un "maybe stage" they are testng his sister for Costello...I really hope it is not that...they said a few years back she had Muccopolysacridosis...and again has 10 characteristics of the disease but does not come up genetically positive for it). My children are a "unknown' and because of that none of the Doctors know what to do with them. I had one doctor actually tell me that eventually they will get sick enough that we will figure it out. Really? was that suppose to make me feel better...

 

Joni said though that if Doug does have something "helping" him it could help others. So maybe my son can help yours. I will let you know. I am still waiting to hear back about an appointment date. I did find two companies who are willing to fly us.
 
Ofelia Marin said:

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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