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Thank you for posting this. I saved a copy to my computer and I am going to send it to my son's Drs. to make sure they are up to speed.

Susan
One interesting thing I noticed in the first sentence:

"Duchenne muscular dystrophy is an X-linked disease that affects 1 in 3600–6000 live male births"

That's a lot different than the number I'm used to seeing of 1 in 3500.
Keith,

The original numbers were at best an estimate. The current numbers are also an estimate, yet new data from the CDC MD STARnet epidemiological and surveillance program (http://www.cdc.gov/ncbddd/duchenne/mdstarnet.htm) indicates the reported rate of prevalence will change as more data is collected and analyzed. Initial findings have been published: http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5840a1.htm Unfortunately, not enough information has ever been collected about DMD, so programs like this are very important.

Brian Denger

Keith Van Houten said:
One interesting thing I noticed in the first sentence:

"Duchenne muscular dystrophy is an X-linked disease that affects 1 in 3600–6000 live male births"

That's a lot different than the number I'm used to seeing of 1 in 3500.
Jerry Mendell's newborn screening study started more than two years ago collects such data as well. Last I talked to him, they found 1 in 3000-3500 cases. In fact, when my son was diagnosed 2 years ago, there were 2 cases (my son's included) out of 6000 newborn screens.

Brian Denger said:
Keith,

The original numbers were at best an estimate. The current numbers are also an estimate, yet new data from the CDC MD STARnet epidemiological and surveillance program (http://www.cdc.gov/ncbddd/duchenne/mdstarnet.htm) indicates the reported rate of prevalence will change as more data is collected and analyzed. Initial findings have been published: http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5840a1.htm Unfortunately, not enough information has ever been collected about DMD, so programs like this are very important.

Brian Denger

Keith Van Houten said:
One interesting thing I noticed in the first sentence:

"Duchenne muscular dystrophy is an X-linked disease that affects 1 in 3600–6000 live male births"

That's a lot different than the number I'm used to seeing of 1 in 3500.
That's an interesting document, Brian. Thanks for the links. The numbers they're citing are prevalence numbers, so you'd need to add in the cases that didn't survive to get to the birth rate. It doesn't give you enough data to figure out the birth rate exactly, but it'd be something less common than 1:5233. 452 cases reported out of a population of at least 2,365,527 births. That assumes all the cases were diagnosed, and the youngest group in the study was aged 5-9, so that's probably not a good assumption.

They do cite a newborn screening study with results between 1/3871 to 1/7730. I can't find that paper in a quick search. It's this one: Bradley D, Parsons E. Newborn screening for Duchenne muscular dystrophy. Semin Neonatol 1998;3:27--34.

If either of you or Ofelia has good access to these kinds of things, I'd be interested to look at it. I wonder how many participants it has. Mass newborn screening is probably the best way to estimate the incidence at birth. Is Mendell continuing his study beyond the 6000 Ofelia?

Of course, in the end, what the rate is doesn't really matter, now does it. Our sons have it.


See anything else different or surprising in the standards of care?
Did anyone else notice on page 9 of the first document, when talking about bone demineralization as a side effect of the steroids, that one of the interventions says to "encourage weight bearing activity." The second document has a much more detailed set of testing/intervention guidelines that DON'T mention that, but why does the first one???

Keith Van Houten said:
That's an interesting document, Brian. Thanks for the links. The numbers they're citing are prevalence numbers, so you'd need to add in the cases that didn't survive to get to the birth rate. It doesn't give you enough data to figure out the birth rate exactly, but it'd be something less common than 1:5233. 452 cases reported out of a population of at least 2,365,527 births. That assumes all the cases were diagnosed, and the youngest group in the study was aged 5-9, so that's probably not a good assumption.

They do cite a newborn screening study with results between 1/3871 to 1/7730. I can't find that paper in a quick search. It's this one: Bradley D, Parsons E. Newborn screening for Duchenne muscular dystrophy. Semin Neonatol 1998;3:27--34.

If either of you or Ofelia has good access to these kinds of things, I'd be interested to look at it. I wonder how many participants it has. Mass newborn screening is probably the best way to estimate the incidence at birth. Is Mendell continuing his study beyond the 6000 Ofelia?

Of course, in the end, what the rate is doesn't really matter, now does it. Our sons have it.


See anything else different or surprising in the standards of care?
Hello Keith,

Most studies are so small that there is not enough data to establish completely accurate rates prevalence or incidence. This is why the numbers we have are estimates. The MD STARnet is the most extensive study to date, yet as you noted is imperfect.

Brian

Keith Van Houten said:
That's an interesting document, Brian. Thanks for the links. The numbers they're citing are prevalence numbers, so you'd need to add in the cases that didn't survive to get to the birth rate. It doesn't give you enough data to figure out the birth rate exactly, but it'd be something less common than 1:5233. 452 cases reported out of a population of at least 2,365,527 births. That assumes all the cases were diagnosed, and the youngest group in the study was aged 5-9, so that's probably not a good assumption.
They do cite a newborn screening study with results between 1/3871 to 1/7730. I can't find that paper in a quick search. It's this one: Bradley D, Parsons E. Newborn screening for Duchenne muscular dystrophy. Semin Neonatol 1998;3:27--34.
If either of you or Ofelia has good access to these kinds of things, I'd be interested to look at it. I wonder how many participants it has. Mass newborn screening is probably the best way to estimate the incidence at birth. Is Mendell continuing his study beyond the 6000 Ofelia?

Of course, in the end, what the rate is doesn't really matter, now does it. Our sons have it.


See anything else different or surprising in the standards of care?
Yes, the study started in Columbus and is now available in the entire state of Ohio. Mendell is trying to make a point for CDC to consider extending it nationally, but as we all know the funding is a problem and it is hard to convince CDC to make such an investment when there are no disease modifying treatments for DMD. Hopefully this will change soon. We were asked to give a taped interview about benefits since I have no family history and am not a carrier (never heard of DMD before my son was diagnosed) so my son's diagnosis was purely b/c of participation in the newborn screening. Also, Robert was our first child so we were able to take advantage of prenatal testing for DMD with our newborn daughter.

I will look for that paper. It would make an interesting read.

Keith Van Houten said:
That's an interesting document, Brian. Thanks for the links. The numbers they're citing are prevalence numbers, so you'd need to add in the cases that didn't survive to get to the birth rate. It doesn't give you enough data to figure out the birth rate exactly, but it'd be something less common than 1:5233. 452 cases reported out of a population of at least 2,365,527 births. That assumes all the cases were diagnosed, and the youngest group in the study was aged 5-9, so that's probably not a good assumption.

They do cite a newborn screening study with results between 1/3871 to 1/7730. I can't find that paper in a quick search. It's this one: Bradley D, Parsons E. Newborn screening for Duchenne muscular dystrophy. Semin Neonatol 1998;3:27--34.

If either of you or Ofelia has good access to these kinds of things, I'd be interested to look at it. I wonder how many participants it has. Mass newborn screening is probably the best way to estimate the incidence at birth. Is Mendell continuing his study beyond the 6000 Ofelia?

Of course, in the end, what the rate is doesn't really matter, now does it. Our sons have it.


See anything else different or surprising in the standards of care?
I printed three copies, and I think I'll get a bunch of little flash drives to stick in each car, my briefcase, Cheryl's purse and some drawer at the house, along with the article about anasthesia so that if I ever have to take Alex to the ER for whatever reason, this information is available to whatever nine year old resident first looks at Alex.

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