Son, 2, just got diagnosed 5 days ago. Need support!

Hello! 

My son will be 2 in Dec. He just got diagnosed 5 days ago. I am sure you all know how I feel. My heart is breaking. What was supposed to be a  routine blood test turned into a horror story. his CK levels are 31,400. He has a nonsense point mutation on exon 25 which is in-frame exon. We weren't given much information at the Dr's office, so my knowledge is still new. All I know is based on my research for the last 5 days. Is anyone of you think that he might have Becker instead of Duchenne? Do you think he might have some dystrophin in his body? I think that the DMD diagnosis was based on his high CK levels only. He doesn't have any symptoms yet. Do you think we should start PT or take any supplements? We were told  just to wait until he is 4-5 to start steriods. I am thinking, what's the point of early diagnosis if we have to wait 3 more years and don't do anything about it? 

Thanks in advance!

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Hello! I'm so sorry you are going through this as well. My 4 year old son was just diagnosed about 3 weeks ago, and I have a 2 year old son as well that has elevated ck levels. My son has a nonsense mutation in exon 31 and has been diagnosed with BMD, so it is possible that your son could produce some dystrophin. Gosh...we waited 5 weeks for genetic results and I was a mess. I researched day and night (still am). It's so hard to wrap your head around it all. When we got the ck levels back on my second son I was devastated all over again, even though he's not officially been diagnosed. It's such a difficult time in the beginning. I've found reaching out here and on FB has really helped. I've studied and researched, visited a geneticist, but honestly I'm still confused and heartbroken. We made an appointment with Dr. Mendell at Columbus Nationwide Children's Hospital in February. We are hoping for more answers after visiting with him as I hear he is such a wonderful and knowledgeable man. One thing I've learned in this short amount of time since diagnosis is that every child is different and every child progresses differently. The waiting it torture some days, trying to figure out what to do and how to help, when basically nothing can be done at this point when they are so young. Your life just continues on, but a positive from this is you definitely enjoy each day and never take another moment for granted, which ironically is how we all should be living. Best wishes to you and if you ever want to chat, I would be happy to talk with you!

hi, Ginger, thank you for reaching out. I am sorry for your diagnosis too. I will agree that the wait was horrible. We waited almost 3 months. I would love to chat with you sometime. I have so many questions and now I am trying to figure out on my own if he has DMD or BMD. How much were your son's CK levels? I think that we were diagnosed with duchenne based on CK levels and physical exam as my son's CK levels are at the 30,000s because the genetic testing leads to becker. My son also has a global developmental delay. Not to mention that he was also diagnosed with Autism when he was 14 months old, but the older he gets, better he gets and the Neurologyst and the ECI program's director thinks that he was misdiagnosed and the delay is caused by the dystrophy. Good luck to you too as this is a hard journey we are starting here!

Ginger Edwards said:

Hello! I'm so sorry you are going through this as well. My 4 year old son was just diagnosed about 3 weeks ago, and I have a 2 year old son as well that has elevated ck levels. My son has a nonsense mutation in exon 31 and has been diagnosed with BMD, so it is possible that your son could produce some dystrophin. Gosh...we waited 5 weeks for genetic results and I was a mess. I researched day and night (still am). It's so hard to wrap your head around it all. When we got the ck levels back on my second son I was devastated all over again, even though he's not officially been diagnosed. It's such a difficult time in the beginning. I've found reaching out here and on FB has really helped. I've studied and researched, visited a geneticist, but honestly I'm still confused and heartbroken. We made an appointment with Dr. Mendell at Columbus Nationwide Children's Hospital in February. We are hoping for more answers after visiting with him as I hear he is such a wonderful and knowledgeable man. One thing I've learned in this short amount of time since diagnosis is that every child is different and every child progresses differently. The waiting it torture some days, trying to figure out what to do and how to help, when basically nothing can be done at this point when they are so young. Your life just continues on, but a positive from this is you definitely enjoy each day and never take another moment for granted, which ironically is how we all should be living. Best wishes to you and if you ever want to chat, I would be happy to talk with you!

Hi my son was 4 when diagnosed with dmd. I know all of the worse case scenarios bc most have happened to my son. So if u need someone to talk to email me at sdcl2006@yahoo.com

Hope,

My heart goes out to you. It's such a hard time when your child is diagnosed with such a devastating disease.

My husband and I found the most important thing to us at diagnosis was to find out as much as we could about the disease our son carries. Therefore we suggest traveling to Cincinnati Children's Hospital in Cincinnati, Ohio, to see Dr. Brenda Wong and her team. The neuromuscular team there is absolutely fabulous. There is no way to describe it, really. If your insurance pays for out of state care (ours does) it's worth the airfare costs. Ronald McDonald House is immediately adjacent to the hospital so you can stay there for 25 dollars a night, all meals (most home cooked) are included, laundry facilities, etc. If you would like I can tell you of our experiences/contact info for the hospital (it's 3 or 4 days that you visit the team, outpatient basis)/contact info for Ronald McDonald/contact info for CCH guest services (provide free transportation to and from airport).

Getting a positive support network in place is as important as is finding a good team of docs/therapists.

God bless you as you start this journey. There is hope, no matter what you may be feeling right now!

Most sincerely,

Andrea Duerkop

You may want to check with others, but my understanding is that an in-frame mutation is likely Beckers and not Duchenne.  My son is 6 and is out-of-frame.  If I could go back to when he was two, I would check his vitamin levels and start him on Vit D and CoQ10 right away.  I would also ensure that he is a healthy eater, and avoid processed foods and sweets/juices etc.  It is wonderful that you are a such strong parent, when my son was diagnosed I was completely useless for months....Sending hugs, and please know that there are many promising things in the pipeline.  Don't be misled by old information you find on the internet. <3

Hi Hope,

So sorry to hear of your son's diagnosis.  My son was recently diagnosed in August 2015 at age 3.5 and we have been going through the same challenges as yourself.  We went to Cincinnati Children's to visit Dr.Brenda Wong and found the team to be wonderful.  Its been devastating to think about the future, but the best thing is to find out as much as you can and get a good team working with you.  We are still trying to work through the daily emotions, but there is a lot in the clinical pipeline.  I've worked in pharmaceuticals for 12 years and recently quit to take care of my son.  Your son is still young but it doesn't hurt to start PT. My son has been in PT since 2 months for torticollis and hypotonia (which was really duchenne). Again I would work with your clinical team to find out what's best.  I have recently started my son on Vitamin D, Coenzyme 10, and considering steroids when he turns 4.5.  I am still very hesitant to start steroids with all the potential side effects.  Swimming has been recommended by my PT.  My son swim's 2X/week and his muscles seem to feel so much better and softer after his sessions.  I guess the best advice I can give is live one day at a time and enjoy each day.  And when your son turns 3 he is eligible for preschool in your local elementary school where he can have an IEP (individual education plan) developed and receive PT, OT, and speech  therapy for free.  My son has been in the program since he turned 3 and it has really helped his delays in speech etc.  I hope this helps.  If you want to talk, please reach out. 

Tammy, thank you so much for your suggestions. I was sure that something should be done, as my doctor suggested doing nothing until he is 5, when he will start steroids. After extensive research I also found out that it my Becker's but the only way to prove that is with muscle biopsy, when they will measure his dystrophin levels. I also found out that 10% of children with in-frame mutations have Duchenne, so I guess time will show us the true diagnosis. Thanks and best wishes to you too!

Tammy said:

You may want to check with others, but my understanding is that an in-frame mutation is likely Beckers and not Duchenne.  My son is 6 and is out-of-frame.  If I could go back to when he was two, I would check his vitamin levels and start him on Vit D and CoQ10 right away.  I would also ensure that he is a healthy eater, and avoid processed foods and sweets/juices etc.  It is wonderful that you are a such strong parent, when my son was diagnosed I was completely useless for months....Sending hugs, and please know that there are many promising things in the pipeline.  Don't be misled by old information you find on the internet. <3


Hi, Jason, thanks for the reply. I am trying to be positive as well, but it's really hard at times. The medication that will possibly help my son and turn the Duchenne into Becker is called Translarna. It is expected to get out on the US market sometime this year, but of course we don't know what funding it will get. It is already used in England and Germany, but it costs around 12000 for 15 day supply, so I am trying to stay positive. I am sorry for your diagnosis too. How did you know to look for medical help? My son is 2, according to his Dr he already have symptoms (no climbing stair yet, getting up from the floor with significant bend at the waist and of course all the developmental delays he has. Did your son had any developmental delays? Thank you so much for your wonderful words. I think I am strong, but I have days and days. One week I am strong, then I am not. Best wishes to you and your family.
Jason Miller said:

Hope, I am new here as our 7 1/2 year old son was recently diagnosed. This is an amazing community and there are treatments on the very near horizon. We have to stay positive and strong for our children and ourselves. You are an amazing mother and will get through. 


Hi, Limca, thanks for your reply. We already have an appointment at Columbus Childrens' hospital in OH. I don't work at this point and try to give the best of me, so I understand why you quit your job. Some people here suggested that 4-5 years is too early for steroids, so I understand why you are nervous. We do have few more years until then, but I am sure I would worry too. I am taking all your suggestions into consideration and I will consult with the DR. Thanks again and good luck to you too as this is a hard journey for all of us!
Limca Jhaveri said:

Hi Hope,

So sorry to hear of your son's diagnosis.  My son was recently diagnosed in August 2015 at age 3.5 and we have been going through the same challenges as yourself.  We went to Cincinnati Children's to visit Dr.Brenda Wong and found the team to be wonderful.  Its been devastating to think about the future, but the best thing is to find out as much as you can and get a good team working with you.  We are still trying to work through the daily emotions, but there is a lot in the clinical pipeline.  I've worked in pharmaceuticals for 12 years and recently quit to take care of my son.  Your son is still young but it doesn't hurt to start PT. My son has been in PT since 2 months for torticollis and hypotonia (which was really duchenne). Again I would work with your clinical team to find out what's best.  I have recently started my son on Vitamin D, Coenzyme 10, and considering steroids when he turns 4.5.  I am still very hesitant to start steroids with all the potential side effects.  Swimming has been recommended by my PT.  My son swim's 2X/week and his muscles seem to feel so much better and softer after his sessions.  I guess the best advice I can give is live one day at a time and enjoy each day.  And when your son turns 3 he is eligible for preschool in your local elementary school where he can have an IEP (individual education plan) developed and receive PT, OT, and speech  therapy for free.  My son has been in the program since he turned 3 and it has really helped his delays in speech etc.  I hope this helps.  If you want to talk, please reach out. 

Hi, Andrea! It is wonderful that you are giving me so much information. We are already have an appointment schedulled at the Columbus clinic, they also have Ronald McDonald house for us to stay. Can you tell me a little bit more about how the appointment went? How many days you had to stay, did they perform any tests etc?  Thank you so much for all the information! having support is very important so I am glad I can talk to you all. Best wishes



Shawn said:

Hope,

My heart goes out to you. It's such a hard time when your child is diagnosed with such a devastating disease.

My husband and I found the most important thing to us at diagnosis was to find out as much as we could about the disease our son carries. Therefore we suggest traveling to Cincinnati Children's Hospital in Cincinnati, Ohio, to see Dr. Brenda Wong and her team. The neuromuscular team there is absolutely fabulous. There is no way to describe it, really. If your insurance pays for out of state care (ours does) it's worth the airfare costs. Ronald McDonald House is immediately adjacent to the hospital so you can stay there for 25 dollars a night, all meals (most home cooked) are included, laundry facilities, etc. If you would like I can tell you of our experiences/contact info for the hospital (it's 3 or 4 days that you visit the team, outpatient basis)/contact info for Ronald McDonald/contact info for CCH guest services (provide free transportation to and from airport).

Getting a positive support network in place is as important as is finding a good team of docs/therapists.

God bless you as you start this journey. There is hope, no matter what you may be feeling right now!

Most sincerely,

Andrea Duerkop

All,  My son 6yrs old was diagnosed last month or so.  We recently had our appointment at Duke Hospital on Friday.  It was a bit overwhelming with everyone meeting with us.  Our appointment was at 7:45am and I would say we left at about Noonish. 

Our son had a cold for the past few weeks so when they did a series of breathing test he did not do very well.  Part of it was that he did not know how to property breath on the little tube.  They are trying to determine if its his cold, Asthma or related to DMD.  There wasn't enough information to determine so he gave us some medication for the cold and we are to come back next month to do the test again.  The following steps will be determined after those results.

For the past 2 days he says that his back hurts.  Doctor believes its spasms due to the PT he did on Friday and because of the tip towing etc. Emotionally, it was a dagger because of all that is going on.

Our son is still walking and running (sorta), going up the stairs and walking long distance.  The plan for now is NOT to do steroids until they are able to apply him for the clinical Trial VBP-15 ("Vamorolone")  With this clinical trial you can't be on any other steroids.   It may be a few months before we know when its available for trial.  This drug is very little side effects and work as or better than the current drugs. 

Sending many many prayers to our babies... Lets continue to support one another... You all are awesome!

Hi, Jason! Thank you for sharing your story. We did all the genetic tests at the same time. I think that if your little boy doesn't have duplications or deletions, he is more likely to have a type of mutation that our son has. I hope he doesn't have it, but if his CK levels are very high, mostly likely something is going on. Our son has a point mutation(only one letter of the chain is changeed, instead of C is A in our case), which creates a stop codon and the production of dystrophin stops there. It is also called a nonsense mutation. If this is the type of mutation he has you will also be a candidate for Translarna. How much are his CK levels? Our son's are 29000! Even though his mutation is nonsense and it is located on exon 25, which is in-frame exon, he still got diagnosed with DMD based on the high CK levels and him having symptoms before age 2. This type of mutation is more likely connected to Becker than Duchenne. I am sorry I am explaining too much. I guess you still don't have an official diagnosis. I hope it is something lighter than that as there are 100 different types of muscular dystrophy . I am also thankful that I can talk to people here. Only we can understand each other. People who are not going through this cannot truly understand what is going on in our families. Yes, they are sympathetic and supportive, but they cannot truly understand. You take care and keep me posted about the tests results and what else is going on. I will help as much as I can!

Jason Miller said:

Hope - I've heard so many positive news on Translarna including that it looks to be on the path to being approved this year. I actually saw a post from BCBS that had it on their list of approved drugs only needing prior authorization. Staying positive is what you/your family and your son's need and you can do it! I have another friend here in the area who's son will benefit from the same drug and so I'm praying for you both and anyone else that will benefit. As for my son, there were no signs early on and no delays. When our twin daughters who are now 4 started climbing up stairs foot over foot, it was then that we noticed our son would use the railing or just playfully run with his hands. He's always had a normal gate when running but would run slower. Other than those two things, there was nothing else. We had his CK levels checked and they were very high so genetic testing came next. We just received results on those last Friday which showed no deletion and no duplication so the lab is now going through a more extensive test and we'll know more in about a month. Our son doesn't really get tired out and is always running around like crazy so I don't know but we've assumed DMD because of the high CK levels. I have seen so much in terms of positive medications coming out soon and what is ahead in the near future. At this point I take things one day at a time. I do go through the ups and downs though and sometimes have a hard time sleeping. I am thankful for meeting people here and just being able to talk. This is a great therapy.

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