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 Colin McKenzie on
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Jeff
All I can say is take it slowly, take one day at a time and dont rush into anything. Have you had a CK level blood test done yet? Have you sent blood for DNA testing? How old is Benjamin? Have you read up on the PPMD web site for all the different topics about this condition?
Keep in touch, and just hang in there.
Our prayers are with you
Colin
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Permalink Reply by Jeffrey Botwin on
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Benjamin is 5-1/2, and yes, a CK level was done with results in the vicinity of 23,000
We have not had the DNA testing done yet, as the Drs. seem to be operating somewhat slowly on this.
We have been after our pediatrician, and others for help with his "clumsiness, his difficulty with simple tasks, climbing stairs, etc. for almost 2 years, and most recently, seeing a child psychologist for help with ADHD, and yet through all of this, no one had suggested the possibility of MD.
Colin McKenzie said:Jeff
All I can say is take it slowly, take one day at a time and dont rush into anything. Have you had a CK level blood test done yet? Have you sent blood for DNA testing? How old is Benjamin? Have you read up on the PPMD web site for all the different topics about this condition?
Keep in touch, and just hang in there.
Our prayers are with you
Colin
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Permalink Reply by Darcy Tumminello on
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Jeff,
Sorry you had to find us..but a great group of people sharing tons of info. You're at the right place. I'm from PA and we go to Dr. Wong once a year and the local clinic in between. (just so you know, you can have a relationship with both) It's definitely worth the time visiting Cinci and Dr. Wong's team. She performed tests my Dr. did not and we found out that he needed additional supps. Good Luck! Call Cinci now for appt as it can take a few months or so to get in to see her team.
Darcy
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Dear Jeff
It is like reading our story, unfortunatly the medial field so seldome come accross this condition and hence have very limited awareness, you need to get the DNA test done, this is a blood test originally and they will check the Dystrophin gene for the problem. When last i heard, they can find the problem with 60% using blood DNA. Check the success rate now and before you do the muscle biopsy (a popular method of detecting the muscle cell deterioation) I suggest you should wait for a real treatment to be found and then decide. (We beleive it is such a hard and painfull proceedure to just confirm what you already know) With a CK level of 23000 it is safe to say he has a major muscle problem, you need to check the symptoms and you will probally find an exact match. Gowers movement (pushing up on his knees to get up, enlarged calves, clumsy, learing difficulties, battles with stairs etc)
I would suggest you get hold of Dr Biggar and talk to him about steroid treatment and the Calcium and Vitamin D, I have attached his presentation from the 2006 conference. You should check his heart and his lung function. you should also start physio therapy but with some one who is fully briefed with DMD. No strenious excercise, steps up and down are a huge problem for his muscles, swimming and flat road bike riding are good for his muscles. Everything in moderation and no tiring or long outings without a push chair.
Lastly for now, take each day one at a time, it is a very hard thing to understand, but it will get better and times will be good and bad, the best of the whole horrible situation you find yourself in, is that life will be so much more precious, you will soon se who are real friends and all of a sudden you have a global family to access and support you as we have all been there and have still a way to go. Live for today, enjoy each day and never never give up hope for the future, this PPMD and the mission and vision of a mother on a role, I beleive will see the end of this condition in the very near future, BUT as it may not be that soon, don't wait and see, live and enjoy your special child and family.
Regards
Colin
You need to find a team of
Jeffrey Botwin said:Benjamin is 5-1/2, and yes, a CK level was done with results in the vicinity of 23,000
We have not had the DNA testing done yet, as the Drs. seem to be operating somewhat slowly on this.
We have been after our pediatrician, and others for help with his "clumsiness, his difficulty with simple tasks, climbing stairs, etc. for almost 2 years, and most recently, seeing a child psychologist for help with ADHD, and yet through all of this, no one had suggested the possibility of MD.
Colin McKenzie said:Jeff
All I can say is take it slowly, take one day at a time and dont rush into anything. Have you had a CK level blood test done yet? Have you sent blood for DNA testing? How old is Benjamin? Have you read up on the PPMD web site for all the different topics about this condition?
Keep in touch, and just hang in there.
Our prayers are with you
Colin
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Biggar presentation. 2006.
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biggar_steroids_2006.pdf, 3.1 MB
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Although we do not live in USA, Dr Wong is a legend in this field and I would also suggest you try and see her. It will definitly be worth the trip.
She also presents at the yearly conference.
Colin
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Permalink Reply by Nadine Foley on
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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 Jennifer Collier on
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Hi Jeffrey,
My son Ryan was diagnosed with DMD in May of this year. He just turned three in August. Reading your post sounds so similar to most of our reactions to this diagnosis. We knew something wasn't right with Ryan since he around nine months to one year. He was delayed in all of his milestones, and currently has no language at all, and very primitive communication skills. There is such a wide range in differences between all of our boys. Some have learning issues, some have ADD/ADHD, some have communication issues, some have autism spectrum tendencies, some son't have any of these issues and are just hindered physically. Just hang in there and focus on today. The thought of the future scares the hell out of my husband and I, so we just don't focus on it. We pray everyday that they'll find a cure! There is tons of hope!!! We haven't been to see Dr. Wong, but I hear she is fabulous. We live in Florida and are planning to make an annual trip there once I get around to making an appointment. Right now, we go to clinic at Duke in North Carolina.
I wish you and your family the best.
~Jen
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Permalink Reply by brad stringer on
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Jeff,
Sounds like you have a big, beautiful family!
I am sorry to hear of Benjamins diagnosis, but this is not the end of anything. Its really a beginning. As Colin has suggested, take a deep breath and take it slowly, one day at a time. I know its so very overwhelming, especially once you start to read all of the information on the internet. Be really aware that alot of that info is now getting old very fast! There is so much going on with new meds and therapies...and not just early stage clinical trials..!
Try not to read too much on the internet....its just needlessly depressing.
My suggestion is that you do your best to get to Childrens Hosp of Cincinnati (or even Hosp. For Sick Kids in Toronto) or ANY place where there is a dedicated NMD/ DMD Clinic in place. This is critical so that your family has the best possible care available.
Regarding telling your kids...I would suggest simply this-be honest with them about what you are going through and Benjamins condition, but in a simple and age-appropriate way. Make any message very positive and filled with hope. Really though, I would suggest discussing too much with them until you have a had a chance to digest the flood of information you are recieving, so that you can present it in a calm and clear manner. The PPMD website is your absolute best resource for information. Something to keep in mind as you navigate along. Hope this helps.
Brad
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Permalink Reply by Lori Ware on
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Hi Jeff,
I too am sorry that you have had to find us, but finding us is really a great thing! There is a wealth of information on this site, as you know, but often I find the best information is from the parents. We take our son to Dr. Wong. She is AMAZING...and busy!!! I would try to get an appt with her or another doc in America considered an expert (there are a few and luckily growing #), but I would also go to my local doc and get the DNA done. Make sure they send the blood sample to a good lab like Athena or Univ of Utah. Don't even consider a biopsy until after the blood DNA comes back. Often, it is a doc's first choice, but it is the most traumatic to our boys and often needless. My son has never had a biopsy as we were able to find the mutation without it.
If you like your ped, I would ask him/her if they would be willing to work with (if not guided by) whichever Neuro you choose to go with. I had to change ped's 3 times before I found one who would not let her ego get in the way. Her comment to me was that "I will be your quarterback, you and Dr. Wong need to throw in the plays". PERFECT!
Also, as far as Pharma's and clinical trials go, that is one benefit of being in Cincy. They have a registry so that once you are in their system, if a trial comes up that your son qualifies for, Cincy will contact you and then let you decide if you want to contact the pharma about the trial. Of course, Dr. Wong and her crew will be guiding you and/or answering any question that you have.
If you choose to travel for medical care, there are several organizations that will provide free flights for 1 child and 1 parent to the destination. This certainly helps with costs! Also, look into your state and see how to get Benjamin signed up for the disabled child living at home act. I am sure there are parents on here from NY that can help you with that.
One last thing...make sure you contact Ryan at PPMD and get the new family packet! It has tons of information that you will find helpful and he can quickly connect you with local families in your area.
Benjamin will be added to our prayer list!
Lori and Seph
www.caringbridge.org/visit/seph
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I'd like to thank all of you who have responded, for all of your kind thoughts and helpful suggestions. I have contacted Dr. Wong's office, had my ped. fax a referral, and now await an appointment. I sincerely appreciate the help and support, and G-d bless all those who make this website and group possible.
Jeff
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Permalink Reply by Kelvinsmom - Michelle on
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As everyone else said, Dr. Wong is the greatest and most complete Dr. that you can imagine. No matter what would ever change with your son, she'll have some way to try to help work on that issue. To keep your son as healthy as possible, is the goal of everyone on this site. We work together to work out what Dr.'s are best, what supplements are best, what braces to wear at night are best, what steroids are best, what is best at school, IEP's, etc. It is the source you need and like others have said, don't look at statistics, most of them are outdated anyway and most kids are far surpassing any previous statistics. We are all working together to support our sons so that they can stay as healthy as possible and are working together to raise monies to fight for the medical help we need for them to live productive lives. Take care and don't ever be afraid to ask anyone for help. I too found out this year about my son (in January). It has been a very long year, but it has gotten, much, much better, thanks to everyone on this site! Michelle
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