Hi

We have just recently got Johns diagnosis as "deletions in exons 3 - 7".  Otherwise we know very little.  John is 10 and still quite mobile although geting worse.  Any thoughts or information that anyone has would be great.

James

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I think it depends on how happy you are with your current care. I did not feel we were getting very much info from Boston Children's at the time but that was 9 years ago. Cincinnati has an interdisciplinary program so they have a team of doctors in different specialties working together. Plus Dr.Wong is awesome. And it is known now that our deletion responds really well to deflazacort.  



Hi Eileen

You mentioned a paper produced by Dr Wong and Dr Wilton.  Is this available on the internet or where might I find it?

We are just back from a consultation at a hospital in Newcastle, UK which was very helpful.  The doctor we saw said that John was better than she would have expected for a 3 - 7 boy aged 10 who had no treatment to date.  Hopefully he is an "outlier" like your boys.

They mentioned the words "outer" and "inner" regarding the 3-7 deletions.  One is bad, the other less so.  Do you know anything of this?  They expect to put him on deflazacort soon.

Regards

james

Hi James,

This is the link to the paper

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3499695/

I think what they were talking about is the frame reading and how the exon fit together. Ours is out of frame which is usually is worse but Dr.Wilton thinks that there is a natural exon "skipping" going on with 3-7 which makes it more like in frame. I wish I knew how to explain better, hope this article helps.

Dr.Wong is who told me that our group seems to respond well to the deflazacort.

 


Hi Eileen and all

I just wondered what you feel Dr Wong and the Cincinnati hospital offer that is so good.  Is it just time, attention, advice etc?  It seems to me that so far there is really not much else - except steroids offcourse.  We would consider contacting Cincinnati and even going there but it is a big step if there is no particular treatment on offer right now.  We are already doing all the physio etc that is advisable.

Many thanks

James

What Cincinnati offers - and I'll quickly point out that they're not the only ones that do this - is a multidisciplinary care model.  You're seen by a team of doctors and professionals from different specialties, all of whom have specific expertise with duchenne.  These are large clinics, they see duchenne boys weekly.  At a smaller clinic, it might be once a quarter, or less.  So - you'll see a cardiologist, for instance, and that cardiologist sees many duchenne patients.  They know specifically what to look for in the heart and the latest testing and treatment information related to duchenne cardiac care.  Sometimes the specialists are involved with research, or clinical trials.  They attend conferences.  They are specialists in duchenne care, as opposed to a generalist.  

I've been to clinics that weren't duchenne specialists (and have friends that have also).  They didn't do cardiac MRI's, aren't using cardiac meds early, missed steroid induced insulin resistance, gave little direction on stretching, didn't do a holter monitor, didn't do a sleep study, etc.  My son was misdiagnosed the first place we went, and lost a year that we could have been on steroid treatment...  

We see Dr Wong at Cincinnati, and she's wonderful.  I hear very good things about the the other multidisciplinary clinics as well.  At the clinic we see neurology, cardiology, pulmonology, endocrinology, rehab, physical therapy, nutrition, genetics, orthopedics, and psychology - as needed, all in one trip to the hospital.

If you're thinking about coming to the US - look into the cost closely.  We have an insane health care system here.  I wouldn't be surprised that a 2 day trip to clinic, without insurance coverage, would cost over $25,000 USD.   

Good luck.  

Many thanks for that.  As I mentioned we were impressed with the effort put in by doctors in Newcastle UK when we went there but as you say we will probably only be seen 3-4 times a year.  Having said that we couldnt be in USA on any sort of regular basis - money and general logistics reasons - so we stick with Newcastle and keep hoping and praying.

John is doing well at almost 11 and recently on deflazacort.

Thanks again

Hi James, my name is Debbie and our son Dylan is a 3-7 exon deletion and has just turned 11 years old.  We live in NZ and were part of Eileen's group Deletions 3-7, which I cannot seem to find on the PPMD site, so really pleased to be able to make contact via Eileen's page.  Our son was not so great until going on the DFZ 16 months ago, we only go diagnosed when he was 8 and chose not to do the prednisolone until going on DFZ.  He was deteriorating quite a bit, and the DFZ has seemed to have flat lined him so far.  It was Eileen that suggested we go on DFZ and we are very thankful as Dylan has ADHD. I will read the link to the paper above.  Would be good to be in contact with another family with similar aged boy and exons deletion and to compare notes over time if you are okay with this?  Thanks and regards

Debbie Schneider

Hi Eileen, long time no talk!  Great to find you again, lost the 3-7 Exon group so did a search on you and would like to keep a watch on your page if that's okay to keep up with anything going on in the USA.  Saw that you get your DMD care at Cincinatti on Health Insurance is this correct? or have I got the wrong end of the stick.  Our insurers said they do not cover it as it is a genetic disorder, bummer aye.  How are you guys and how are your boys doing? I often think of you and hope you are keeping okay and that life with the boys continues to be as it was.  Dylan got funding for a Segway so rides to and from school, on it every day.  Has made such a difference to him and his independence.  We have also got the offroad tyres for it which are also excellent for our trips to the beach with our new pet Ziggy an ex racing greyhound.  Look forward to hearing how things are for you.  Kindest regards  Debbie

Hi Debbie

Sorry but I appear to have missed your message until now.  Thank you very much for sending it.  It is good to share in situations like this.  I note that like John, Dylan was diagnosed quite late - this may have been because no serious symptoms appeared in the early years.  We have started attending a hospital in Newcastle, England where some wise and pleasant specialists have been very helpful and supportive.  While John is Duchenne they believe that he is more towards the Becker end of the spectrum of the illness and thus his symptoms and deterioration are less severe.  However the only treatment on offer to date is steroid - Deflazacort - which, as with Dylan, appears to have made him stronger. John will be 11 shortly.  While there are many trials and reports that offer hope including some posts on this site about Follistatin gene therapy, it is likely that a treatment to suit John is a bit away - the frustration is not knowing how long and so one does not really know what one is hoping in or for or whether to hope atall.

Have you found a specialist unit or area in a hospital in NZ and if so what can they offer?  Is anyone doing research or trials in NZ?  

Unrelated - My cousin who is now retired visited us in Ireland recently from Auckland - he was glad to get back to pleasant weather- away from our rain!

Regards

James

Debbie Schneider said:

Hi James, my name is Debbie and our son Dylan is a 3-7 exon deletion and has just turned 11 years old.  We live in NZ and were part of Eileen's group Deletions 3-7, which I cannot seem to find on the PPMD site, so really pleased to be able to make contact via Eileen's page.  Our son was not so great until going on the DFZ 16 months ago, we only go diagnosed when he was 8 and chose not to do the prednisolone until going on DFZ.  He was deteriorating quite a bit, and the DFZ has seemed to have flat lined him so far.  It was Eileen that suggested we go on DFZ and we are very thankful as Dylan has ADHD. I will read the link to the paper above.  Would be good to be in contact with another family with similar aged boy and exons deletion and to compare notes over time if you are okay with this?  Thanks and regards

Debbie Schneider

James, HI, I haven't been to this site in awhile and saw your message, I also have a son who has the 3 to 7 deletion and we also travel to Cinn, Ohio to see Dr Wong.  My son didn't show signs until he was 9 and it wasn't physical it was attention problems that led us to the diagnosis. I was told that our deletion is more like Becker or as they called it outliers, the problem with this is they have more cardio issues then loss of mobility, So it is very important to have a Cardiologist with the knowledge of what the progression is for Duchenne patients. Right now my son is on 3 heart medications to help slow down the scarring that they will get from this disease that they started him on at age 10 he is about to turn 15. A yearly MRI with contrast will show what's going on. You may need to see Doctors that specialize in genetic diseases they should be more knowledgeable then an average Doctor. You will also need to get all the info you can so you can help explain to the Doctors what and why this is needed. Its seems wrong but their are so many Doctors that have no idea how to deal with Duchenne.  



Kathy said:

James, HI, I haven't been to this site in awhile and saw your message, I also have a son who has the 3 to 7 deletion and we also travel to Cinn, Ohio to see Dr Wong.  My son didn't show signs until he was 9 and it wasn't physical it was attention problems that led us to the diagnosis. I was told that our deletion is more like Becker or as they called it outliers, the problem with this is they have more cardio issues then loss of mobility, So it is very important to have a Cardiologist with the knowledge of what the progression is for Duchenne patients. Right now my son is on 3 heart medications to help slow down the scarring that they will get from this disease that they started him on at age 10 he is about to turn 15. A yearly MRI with contrast will show what's going on. You may need to see Doctors that specialize in genetic diseases they should be more knowledgeable then an average Doctor. You will also need to get all the info you can so you can help explain to the Doctors what and why this is needed. Its seems wrong but their are so many Doctors that have no idea how to deal with Duchenne.  

Hi

James said:

Hi Kathy

Thank you so much for keeping in touch.  Good to hear that your son is doing well.  You didn's say how his mobility is at 15 - hopefully good.  John just turned 11 and is staying strong and mobile (on steroids).  He, like your son appears to be mor towards the Becker side of the MD spectrum and so the illness is progressing slowly.  We attend a clinic in Newcastle UK -they do detailed checks on all aspects of his health every 6 months and we are pleased with them.  Your suggestion that cardio problems feature before mobility problems is kinda new to me and worrying but with all aspects of the disease we just keep hoping that a treatment will come along in time that will help.

There is so much research going on.  

Keep in touch.

james 



Kathy said:

James, HI, I haven't been to this site in awhile and saw your message, I also have a son who has the 3 to 7 deletion and we also travel to Cinn, Ohio to see Dr Wong.  My son didn't show signs until he was 9 and it wasn't physical it was attention problems that led us to the diagnosis. I was told that our deletion is more like Becker or as they called it outliers, the problem with this is they have more cardio issues then loss of mobility, So it is very important to have a Cardiologist with the knowledge of what the progression is for Duchenne patients. Right now my son is on 3 heart medications to help slow down the scarring that they will get from this disease that they started him on at age 10 he is about to turn 15. A yearly MRI with contrast will show what's going on. You may need to see Doctors that specialize in genetic diseases they should be more knowledgeable then an average Doctor. You will also need to get all the info you can so you can help explain to the Doctors what and why this is needed. Its seems wrong but their are so many Doctors that have no idea how to deal with Duchenne.  

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