recent diagnosis and totaly lost
Let me start by saying how wonderful it has been to find the ParentProjectMD. My family has been comforted so much by the words and videos.
The Question: Now we are not able to get a hold of the MDA Clinic to find out about or make the appointment. Is there anyone who has had similar experiences or knows how to navigate these trails to care. We feel like we have be handcuffed just feet away from help.
The Story: Our Caleb is 8 years old and we have been concerned about his mobility for a little over 5 years. Every doctor we spoke with and even his PT thought it had to do with delays.
This year he lost significant muscle mass and we took him to the doctor again. We received a call a week later that went like this . . . "I'm sorry to tell you but Caleb tested positive for MD, we'll need to do a DNA test and we'll let you know next week when we'll need you to come back in. Goodbye, and sorry."
We were crushed, but didn't even know why - then we started researching and understood more.
When the doctor did not call back we started to call them. They said they were working on it . .. then that they couldn't do it and referred us to a neurologist who said they couldn't talk to us and to call the MDA to make an appointment. There we were told the soonest they would be able to get us in would be in 8 months. We went back to our doctor and they said they referred us because they couldn't figure out the insurance coding. I got that for them in 20 minutes and we went back to have more blood drawn. We were told the results would be back in 2 weeks.
We called at 2 weeks + 1 day and were told it would take a minimum of 5 weeks. The next week we were called and told the DNA came back and they would get an appointment set up with the neurologist. If we did not hear back from them in a week to call.
So that is what we did (didn't hear back and called the doctor); we were told they were working on it and to call back if we didn't hear anything in a week. This sounded familiar so I called the Neurologist and then the MDA. The person there said they hadn't heard of us yet and that we needed to get registered before they could even make an appointment.
"What do we have to do to get registered?"
"Oh, it's just a 4 page form. I'll send it out today"
That was on Friday, we got it on Saturday and turned in the necessary forms on Tuesday to the MDA and the doctor (Monday was a holiday). At that point we were told they would get the neurologist's schedule for the next 6 months on Wednesday and we would be contacted on Thursday or Friday for the appointment.
No calls yesterday or today. So we called the clinic. There is only a general voice mail, where we have left a number of messages.......
The Question: Now we are not able to get a hold of the MDA Clinic to find out about or make the appointment. Is there anyone who has had similar experiences or knows how to navigate these trails to care. We feel like we have be handcuffed just feet away from help.
The Story: Our Caleb is 8 years old and we have been concerned about his mobility for a little over 5 years. Every doctor we spoke with and even his PT thought it had to do with delays.
This year he lost significant muscle mass and we took him to the doctor again. We received a call a week later that went like this . . . "I'm sorry to tell you but Caleb tested positive for MD, we'll need to do a DNA test and we'll let you know next week when we'll need you to come back in. Goodbye, and sorry."
We were crushed, but didn't even know why - then we started researching and understood more.
When the doctor did not call back we started to call them. They said they were working on it . .. then that they couldn't do it and referred us to a neurologist who said they couldn't talk to us and to call the MDA to make an appointment. There we were told the soonest they would be able to get us in would be in 8 months. We went back to our doctor and they said they referred us because they couldn't figure out the insurance coding. I got that for them in 20 minutes and we went back to have more blood drawn. We were told the results would be back in 2 weeks.
We called at 2 weeks + 1 day and were told it would take a minimum of 5 weeks. The next week we were called and told the DNA came back and they would get an appointment set up with the neurologist. If we did not hear back from them in a week to call.
So that is what we did (didn't hear back and called the doctor); we were told they were working on it and to call back if we didn't hear anything in a week. This sounded familiar so I called the Neurologist and then the MDA. The person there said they hadn't heard of us yet and that we needed to get registered before they could even make an appointment.
"What do we have to do to get registered?"
"Oh, it's just a 4 page form. I'll send it out today"
That was on Friday, we got it on Saturday and turned in the necessary forms on Tuesday to the MDA and the doctor (Monday was a holiday). At that point we were told they would get the neurologist's schedule for the next 6 months on Wednesday and we would be contacted on Thursday or Friday for the appointment.
No calls yesterday or today. So we called the clinic. There is only a general voice mail, where we have left a number of messages.......
Replies to This Discussion
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Permalink Reply by Lori Ware on
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I am SO sorry that you have had to find us, but since you do need us, I am glad we are here. Where do you live? There are many MDA clinics that, well, lets say "do not operate with effeciency (not to mention knowledge!)! We were able to get in with our MDA doc, but it did no good, he was (and probably is) 15 years behind in data and research.
Do you have the DNA or has it been run? Knowing what I know now, whether DMD or BMD, I would get my son in with a knowledgeable PT who can get a good stretching program initiated. I would also start him on supplements (my son is on protandium, calcium, Vit D3, CoQ10) and then there is teh question of steroids. Most docs in teh US will recommend prednisone. There is another, it is called Deflazacort. We get it from the UK and costs us (cost will depend on doseage...that depends on weight) about 400 a year. Deflazacort has less side effects than prednisone, with the same benefit. Some kids do great on Deflaz others d better on Pred...each kid is different.
Back to the MDA...have you called the local office of the MDA rather than trying to go through the MDA doc? Maybe that will help. Can you local Ped get you an appt sooner? Depending on where you live there may be a good Dr in the area, but you may find, like us, that you have to travel for care. We go to cincinnati childrens and see Dr. Brenda Wong. She is very busy now adays, but for a newly diagnosed 8 y/o losing strenght, I bet she would get you in quick. She and a handful of others are really the best in America, if not the world.
Also, if you can (financially, emotionally), going to the PPMD conference next month would be GREAT. It is hard for a new diagnosis, but will allow you to meet many of us on this board as well as the leading researchers and doctors in the world. it is a priceless gift I give myself every year.
Please feel free to call if you like, send me a private message and I will get back with you. You will find this journey very sad and hard, but very rewarding, life changing and amazing in that you will meet our heros, our sons, as well as many amazing parents and caregivers along the way.
Lori
www.caringbridge.org/visit/seph
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Permalink Reply by Kari on
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Oh my goodness. I am so sorry you have had to go through this. How awful for you and your family. Yes, you can tell the medical system, yes even MD clinics are lacking. Let me know how I can help you with specific questions if no one else has responded to you. My son Jared has BMD and was officially diagnosed 2/13/07. I have been heavily involved in fundraising with the MDA and going to clinics and have had numerous responses about lack the of integrative medical care here in Southern Ca. I will help . . .
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Permalink Reply by nbpendley on
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Thank you all for the support and kind words of welcome. This is all so new and our children are all so precious to us.
The good news - we kept calling and calling and calling to find out when the appointment would be made. We found out the MDA was waiting to get the call schedule from the neurologist's hospital. Since we had been calling so much when they had a cancellation we were the first family they thought of to call.
We met with the neurologist, PT, dietitian, MDA contact and PA in the course of 3 hours without leaving our room. The visit was much better than we could have ever imagined.
I think the next step is to try to connect with some other families in our area and start learning what we need to be working on/towards next.
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Permalink Reply by Kelli May on
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I didn't see where you were from, but we are from San Diego and have an 8 year old with DMD. Elijah's story is on www.caringbridge.org/visit/elijahjamesmiller. If you have questions, especially regarding school support, email me too: kmajmiller@hotmail.com
Kelli
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@Kelli, thanks so much!! we are working on a presentation for the teachers at the school (I believe we are presenting to all the teachers) so we might have some questions going forward.
Noel
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Permalink Reply by Jessica on
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Hi,
I am so sorry. I went through the same frustrating experience with our MDA clinic. I won't ever go back. The doctor didn't seem to know anything about becker. He wanted to put my asymptomatic 13 month old son on steroids. He had just started walking. He met with me for less than 5 minutes and said oh in 3 months we will start steroids.
I have had 4 other nuerologist see him since then and they all agree that to put him on steroids at this point could even be considered malpractice.
I would really urge you to find a neurologist instead of going through the mda clinic. This was my experience with the fort lauderdale and miami office.
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@Jessica Thank you for your thoughts and suggestions! I am so sorry to hear of your experiences.
I think the issues we dealt with upon getting our first diagnosis is related to awareness and education. Not even our ped. was very educated in MD or the paths that would need to be traveled. At first I thought I could see her side - that's not her specialty and such. But now I see that is ridiculous when referring to a condition that affects 1 in 3,500 boys.
My answer now is to let as many people as I can (as many times as possible) what DMD is and how far reaching it is. There will never be a day, a meeting, a conversation where I will not include it in some way. It really hit when I was watching Pat's video message to congress . . . "we WILL end duchenne . . ." I sobbed for quite a while - my wife came in and I couldn't stop to explain it to her for a number of minutes. Once she had watched it, it hit me - "people in my community do not know about this - they have to know about duchenne!" I want the next family to receive a diagnosis to have more local support.
Thanks to all of you who have come by and sent your thoughts and given great advise!
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Permalink Reply by Lisa Tepper on
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I am so sorry this happened to you. To be given this diagnosis over the phone with no other information is cruel. I am glad you found PPMD so quickly. It is a great organization and Pat is just phenomenal!
Our experience with MDA has been good. We live near Hickory, NC so our official MDA office is in Charlotte. The MDA office staff there is great! They are concerned, they return phone calls, etc. They have even called us to see if we needed anything. But, the doctor that we saw at the MDA clinic was less than desirable. He wasn't a pediatric neurologist and didn't really interact with our 4 year old very well. He also seemed like a "check list" kind of guy and didn't really seem interested in anything new or our concerns. So we switched to a different clinic. We now go to Brennar's Children's Hospital in Winston-Salem. We love our doctor. She listens to us and seems to love kids. So I guess my advice is try another clinic and keep trying until you find one that works for you and your son. You may have to travel farther, but it will be worth it in the long run.
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StaffPermalink Reply by Pat Furlong on -
Please let me know if there is anything I can do to help. Feel free to email (pat@parentprojectmd.org) or call me 513-424-0696 (office) or mobile (917) 578-1841.
Sincerely.
Pat Furlong
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Permalink Reply by Ana on
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I understand what your going through. My son was also diagnosed at age 8. He is now 10, and just got his first power chair last week. I knew more about DMD than our Neurologist did, he was working under someone who was more experienced... thank goodness. We go to a PT, Neurologist, Orthopedist, Pulmonologist, and My son has ADHD, so, we go to that Dr too. It gets extremely hectic and confusing. If you have any questions or just need someone to talk to, send me a message. It looks like we're not too terribly far away, we live in North Texas, and go through Cooks Childrens med center. Alot of ppl on here talk about the convention, which I have never made it too, but it sounds great!!
So far, we have not actually met any other families, just talked to a few, whom have been awsome!!
I understand how hard it can be learning so late, instead of when they're young.
Ana
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