We received the results from the clinic and received confirmation our son has duchenne.  He has a mutation deletion in exon 8 through 16.  Exon 7 & 17 are present.  I'm not sure exactly what that means but was told they don't currently have a trial out there yet for his mutation.

She wants him to start Prednisone but I'm not to comfortable with that from all the issues other kids have had with it.  So I told her I want to try Deflazacort.  She said a drug store across the border in Canada carries it but when I called them the person I talked to never heard of it and couldn't find it in her system.

I called The Canadian Drug Store in Canada my dad uses and they didn't have it in their system either. Can someone tell me where they order it through?  

And if anyone else is familiar with the mutation my son has.

Thanks!

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Sorry to hear your news. 

That's an out of frame mutation, and it'd require a double exon skip to get back in frame.  6 & 7 or 17 & 18.  Double skips have not been trialed in humans yet.  But, there are other things in trials that are non-mutation specific that could potentially benefit your son.  For example, HT-100.  And there are others in the pipeline as well.

It's not an unreasonable approach to try prednisone first.  It works fine for some people.  Your insurance will likely cover it, whereas Deflazacort won't be (almost always)., and it's not reimbursable by FSA, HSA, or deductible on your taxes.  We switched after a year, because my son was gaining weight rapidly, and he stabilized on deflazacort.

Most people I know order it from Masters in the UK.  This is their website https://www.masters-uk.com/medicines/  You need a prescription to order it.  Doctors that aren't especially familiar with duchenne are sometimes reluctant to write one, because it's not FDA approved.  There is a special program in place that allows you to import it, though.

 

 

Thanks Keith.  I'm really not sure what all that means...double exon skipping & out of frame mutation.  I'll look into the HT-100 though.  I'm really not worried about the insurance when it comes to the Deflazacort.  I've just read horrid stories about the prednisone and just don't even want to go that route.  I did find a on-line pharmacy https://www.northwestpharmacy.com/ that we can order from for now.  Our son is going to be on 20mg 1x a day.

What doctor do you see?  We are at Beaumont seeing a Dr. McCormick.  May go over to Children's DMC for a 2nd opinion on treatment.

I can meet up with you guys and explain some of these things sometime, if you'd like.  It's not important right now.

Most important is getting your son good care and understanding the standards of care.  Have you seen those documents on the main PPMD website?

I'm not familiar with the care model at Beaumont, and I don't know any local MD families using that clinic.  We went to DMC at one point to check it out - was not impressed.  We've been using U of Michigan Mott Children's as secondary care, and we use Cincinnati Children's as primary care.  

Cincinnati and Columbus Nationwide have very large programs with hundreds of DMD patients.  The clinicians at these places are pretty widely accepted as being amongst the tops in the world.  Some are also researchers.  They've also hosted clinical trials.  They both use a multidisciplinary, team approach.  There are others around the country of this size, style, and quality - these 2 happen to be close enough to here to drive to.  Ask around, check your insurance.  For us, the drive has been well worth it.  Dr Wong in Cincinnati and the rest of the team have been awesome for us.  

If the cost of deflaz doesn't concern you and you can get a script - you're set.  Most people I know are using Masters, haven't heard any bad experiences.  I'm sure other places would work also - it's a pretty common drug, a corticosteroid used for all kinds of things.

We are in Canada and we are in London ON, my son is part of neuro muscular clinic here. Dr. gives us the prescription of Deflazacort and we get the same from hospital pharmacy, They say they dont charge for deflazacort as this is provided under special access program in Canada, they charge for only the shipping cost which is around $30 for 100 TAB of 6 MG each. If you want to talk further drop me a message and will talk.

Thank you. I found a online pharmacy with good reviews that sells Deflazacort. It's called northwestpharmacy.com. Just hope they are on the up and up.

Also called the Children's Mott Duchenne Clinic in Michigan. Can't get in until December. I guess that will have to do.

Dawn, I really recommend Masters Pharmaceuticals in the UK.  There is one woman there, Julie Emms, who will actually answer the phone if you call, and handles all of our USA duchenne cases.  We have used them for almost 6 years (after our first doctor also wouldn't prescribe deflazacort, and couldn't tell us where to get it).  The families here directed us to Masters, and we've been fine.  Other than delayed growth, no steroid side effects.

Hello Dawn. Here's a link to an article that says that Defalzacort is the most prescribed drug for DMD in Canada, so they surely have in pharmacies or drugstores across the country. The brand name is Calcort, so you may try under that name.

I live in Argentina and we have been giving deflazacort to our son for 16 years now. He is 23.

Good luck!

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3440807/

Actually Bernardo, Deflazacort is not approved for use here in Canada, but we are able to get it through a Special Access program which requires the doc/nurse to fill out forms every 6 months for the government. And the cost is not usually covered by insurance since it is not an approved drug, though it is not really an expensive drug. I can only pick it up at the hospital pharmacy, not at retail drug stores.



Bernardo A. Iriberri said:

Hello Dawn. Here's a link to an article that says that Defalzacort is the most prescribed drug for DMD in Canada, so they surely have in pharmacies or drugstores across the country. The brand name is Calcort, so you may try under that name.

I live in Argentina and we have been giving deflazacort to our son for 16 years now. He is 23.

Good luck!

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3440807/

Thank you for clarifying this Andrea. How strange that all of the authors of the article are Canadian doctors and still they say that "deflazacort ist he most commonly prescribed corticosteroid for the treatment of Duchenne muscular dystrophy in Canada". I understand that the problem with the drug in the US (and probably in Canada too) is purely business/commercial, and that it does not have anything to do with safety. I hope one day they solve this,because in the rest of the world there is no problem. 

Deflazacort varies province to province.  I went through a fight with the Saskatchewn Government and now it is covered by provincial health care.  We're moving to British Columbia in the near future and I was in touch with the MD Clinic out of Vancouver and it is covered by the province there as well.

Bernardo, "most commonly prescribed" doesn't mean "approved", which I admit is weird. I think the gov't orders it from the U.K. When I looked into helping a friend from Vietnam get Deflazacort from NorthWest Pharmacy (Janine posted the link above), the rep that I finally got to speak to told me they get it from India.

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