Any help would be appreciated!
Hello,
My name is Jeff Botwin. My son Benjamin, was just diagnosed this week, and though no firm diagnosis as to type of MD yet, our Dr. suspects it is Duchenne. My wife and I are not in agreement as to how to proceed from here. Our pediatrician has scheduled a preliminary appointment with Children's Hospital of Buffalo, NY to be seen in their Neuromuscular Dep't, but from what we know, they do not have any dedicated MD services, and our pediatrician admits he has never dealt with any patient with any form of MD. My questions are: first, are we wasting our time in not pursuing help at a facility like Cincinnati, where they have a more specialized department for MD, secondly, how and when do we tell our children what is going on, third, has anyone had any experience with the medical community in the western New York area regarding care and treatment for MD, fourth, has anyone had any success in contacting any of the various drug companies regarding being considered for inclusion in clinical trials or studies of new medications/treatments, and finally, anyone have any helpful hints, thoughts or guidance to help us through this. All help would be greatly appreciated.
Jeff
My name is Jeff Botwin. My son Benjamin, was just diagnosed this week, and though no firm diagnosis as to type of MD yet, our Dr. suspects it is Duchenne. My wife and I are not in agreement as to how to proceed from here. Our pediatrician has scheduled a preliminary appointment with Children's Hospital of Buffalo, NY to be seen in their Neuromuscular Dep't, but from what we know, they do not have any dedicated MD services, and our pediatrician admits he has never dealt with any patient with any form of MD. My questions are: first, are we wasting our time in not pursuing help at a facility like Cincinnati, where they have a more specialized department for MD, secondly, how and when do we tell our children what is going on, third, has anyone had any experience with the medical community in the western New York area regarding care and treatment for MD, fourth, has anyone had any success in contacting any of the various drug companies regarding being considered for inclusion in clinical trials or studies of new medications/treatments, and finally, anyone have any helpful hints, thoughts or guidance to help us through this. All help would be greatly appreciated.
Jeff
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Replies to This Discussion
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Permalink Reply by Jimmy Mooney on
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What clinic does your nephew attend?
Nadine Foley said:Dear Jeff
My name is Nadine I am from Ireland and my nephew travis has DMD, he is 7½, he was only diagnosed with DMD in January of this year. I felt like I was looking back at myself and all the same questions my family had. You will have a very busy year what with appointments, physio, occupational therapists and much much more. This will eventually slow down and you will be able to breath again. You will find the answers to all your questions yourself through the internet, these good people on this site & your doctors. Our GP had never dealt with MD either which is why travis was not diagnosed earlier. We knew there was something wrong but our Dr didn't see it. You are going to have a year full of ups and downs unfortunately but try & find out what mutation your son has so you will be able to look up the clinical trials for the specific mutation your son has. You will find out so much and be given a lot of hope but eventually that will slow down because you will be where we all are now, we are up to date on everything they are doing to try and treat/cure this disease. Now it is just a waiting game. Best of luck to you and your family.
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Permalink Reply by Nadine Foley on
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Hi Jimmy, my nephew attends the CRC Clinic in Clontarf, Dublin.
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Permalink Reply by Marian Lamberson on
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Hi Jeff,
We found out this year (July) that both of our sons have DMD. I know what you are feeling and the greif will ease as time passes. If I could just give you a peice of advice, someone on here told me when I first got here a month ago.
"You can and will settle down and learn to live a little more normal. It is a tough first year though. Be careful reading too much on these pages. Learn the things you need to so you can give your boys the best care, and then give yourself a break. You do not need to know everything at this point and certainly do not need to hear how older boys are progressing."
This mas also has two sons with DMD.
We have told our seven year old that he has Duchenne and that we will eventually be in a wheelchair if this horrible desease is not cured. It is the hardest time in my life, I am sure you and your wife feel the same. But I can tell you that it does get better. My heart is with you and your family. Good Luck and God Bless....
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Permalink Reply by Barbara Niederhoff on
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Hello Jeff,
I have 3 kids: two daughters aged 15 & 12, and 5-year-old Benjamin with DMD (diagnosed this March).
It took us a few months to get to it, but we did tell the kids what's happening. Benjamin knows he has a muscle disease, and he has been told its name, and has been told why he is taking new medicine & wearing ankle-foot orthotics at night. We have NOT told him what the future brings -- we will save that for later as he asks questions.
We told the girls the basics about the disease the disease & its progress, so that they would hear it from us rather than from looking things up on their own. We asked them to not share the prognosis with Benjamin.
During the diagnosis process, we told them only that something was not right with the way his muscles were growing and that we were working to find out more.
You can look up clinical trials at ClinicalTrials.gov, and there is a registry at DuchenneConnect for the purpose of connecting researchers with potential study participants. DuchenneConnect will ask for details such as the official diagnosis, symptoms present, the specific DNA mutation, treatments being used (if any). Save test results as you get them. The patient profile can be updated any time.
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Hi Jeff
It took almost a year for my son to get a firm diagnosis. That process is agonizing.
Dr. Wong's clinic is wonderful, but I think you can get similar care if you find a doc you trust and will listen to you. We live N of Seattle and as the boys grow up travel becomes more challenging. We go to a clinic that sees the most dmd guys in our area. I have had to do some leg work, but reading and attending the ppmd conference in the summer has allowed me to ask for tests, care and equipment I feel our son needs. I also e-mail Dr. Wong and Dr. Bigger (steroids specialist) when I can't find the answers to some of my questions. So far (Erik is 16) we have done OK.
There is a clinical trial registry connected with ppmd. Is is Duchenne Connect?
I would not get a muscle biopsy. The gene can now be sequenced so the exact mutation can be found from a blood sample. If you enroll in Dr. Flannigan's research (survey) you can get your son's gene sequenced for the cost of overnight delivery and a blood draw. This info is used in the clinical trial registry.
Telling kids and family: we explained it as weak muscles caused by a disease that is not contagious. We added to that as the years went by. All the tests and doc appts. were explained as getting information so that Erik would be as healthy as possible.
Best wishes to a journey no one plans for.
Karen
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Permalink Reply by Laurie Botwin on
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Hello to everyone-
I am Jeff's wife and Ben's mom. I would also like to thank everyone who has offered their support and advice. This has been a very emotional time for our family and your help is so very appreciated.
Laurie Botwin
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Permalink Reply by Joshua's mom on
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Hi Jeff & Laurie,
Our son Joshua was diagnosed at 6 months old. There is a great family and a great deal of information here. When it came to informing Joshua about his disease, we didn't hide anything... except the life expectancy. Noone knows when they're time will come. We started doing the supplements and medication thing; medic alert; and most of all, counselling. Individual amongst the kids, my husband, myself, and family. It's a road noone wants to take, but in the long run you have to depend on one another to get through it.
Best of luck,
Naomi
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Permalink Reply by Jeffrey Botwin on
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Just a little update,
I received a return phone call this evening from Dr. Wong's office. Ben has an appointment to be seen/evaluated by Dr. Wong & her team on March 3rd. It seems so very far away, and of course we were hoping for something much sooner.
The good new, Dr. Wong called and spoke to our pediatrician, and feels confident that with her guidance, he can have much of the preliminary testing done, and gave him instructions as to what specific tests to order, and what labs need to run the results. I guess with her in the "driver's seat", iI feel more comfortable with the wait. I am sure that if anything in these tests comes up different than expected, she will give further instructions, or maybe move his appointment up sooner.
Jeff
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Permalink Reply by Stefanie Killian on
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Jeff -
I am very sorry to hear about Benjamin's diagnosis. You are in the hardest part right now and i know it may not seem like it, but life does go on, and eventually you will find your bearings again. Our son Sam was diagnosed almost four years ago - he just turned 7 this week and is doing very well. You are on the right track in considering cincinnati - it is not the only place to go, but Dr. Wong does an incredible job with our boys. One of our PPMD board members, Christine Piacentino, lives in Rochester and would be a great resource for you. Please feel free to contact me directly at john.killian@ingclarion.com, or you can call me on my cell at 214-727-4892.
John
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Permalink Reply by Christine Piacentino on
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Hi John and Stephanie,
Thanks for the kind words, Jeff, his wife and I have connected.
Stefanie Killian said:Jeff -
I am very sorry to hear about Benjamin's diagnosis. You are in the hardest part right now and i know it may not seem like it, but life does go on, and eventually you will find your bearings again. Our son Sam was diagnosed almost four years ago - he just turned 7 this week and is doing very well. You are on the right track in considering cincinnati - it is not the only place to go, but Dr. Wong does an incredible job with our boys. One of our PPMD board members, Christine Piacentino, lives in Rochester and would be a great resource for you. Please feel free to contact me directly at john.killian@ingclarion.com, or you can call me on my cell at 214-727-4892.
John
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Permalink Reply by Ginny Ward on
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Jeff et al,
My son John was diagnosed at 3 and is now 18 and doing very well. In part, how your son does depends on the type of deletion/ duplication or other error and in part on your living style and interventions.
John is in an electric wheelchair but goes fishing, goes to school, is planning for college, plays video games, draws...
I adopted John at age 4 having just a few months before come from the funeral of my older son's friends, 16 and 17, killed in a car accident. None of us have any guarantees. Enjoy your son and keep, yourself, family, friends and school focused on what he can do, who he really is (not that wheelchair kid). You have every reason to be optimistic that your son, at his age, will benefit greatly from treatments already in the pipeline.
Ginny
Jeffrey Botwin said:Just a little update,
I received a return phone call this evening from Dr. Wong's office. Ben has an appointment to be seen/evaluated by Dr. Wong & her team on March 3rd. It seems so very far away, and of course we were hoping for something much sooner.
The good new, Dr. Wong called and spoke to our pediatrician, and feels confident that with her guidance, he can have much of the preliminary testing done, and gave him instructions as to what specific tests to order, and what labs need to run the results. I guess with her in the "driver's seat", iI feel more comfortable with the wait. I am sure that if anything in these tests comes up different than expected, she will give further instructions, or maybe move his appointment up sooner.
Jeff
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Jeff,
To respond to John Killian's post; you and Laurie should have my contact info. as we have emailed back and forth over the past couple of days. I had another thought of a clinic that you could possible be followed at: Children's Hospital of Philadelphia (CHOP) the doctor that runs the clinic there is Dr. Richard Finkel. In addition, there is the U of R. However, you need to direct them a little. Dr. Biggar in Toronto is really great.
Feel free to contact me anytime. I'm looking forward to meeting you.
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