Duchenne, Becker, or something else???
I don't even no where to start.....
My 4 year old son Tanner recently had a blood draw to check his CPK levels...his came back at 8000.
He has always struggled with low muscle tone and was a very late walker. He is also behind in his speech...though in the past 9 months it has really exploded. He has never been able to run or climb stairs and does the Gowers movement to get up from the floor. He also shows some autistic like behaviors that his Dad and I have noticed.
The Dr. that we were referred to commented on his larger then normal calves for a 4 year old. (Though we had never noticed it...we just figured it was how he was built.) He also of course asked about any family history...we have no history of MD. He also asked about Tanners older sisters. Our oldest had low muscle tone issues as a toddler and still has some mild issues, and our middle child has weak muscles in her fingers and hands that she recieves OT for in school.
His Dr. requested another blood draw, and we go back to see him on the 12th of May. I am fairly certain that Tanner has some form of MD because when I called the Dr. office to verify his appointment I was told that that is the day the Dr. sees all of his MD patients. The Dr. also told us that he wants to do a muscle biopsy and a DNA study.
I have been doing tons of reading on the internet in the last week since his latest appt. and am just as confused as ever. I hate the not knowing!
Is it common to have such a high reading for Beckers...or do you think it points to Duchenne? Or even somthing else? I understand that you guys may not know for sure either, but you at least know so much more about this disease than I do.
I also read that if the child was very upset during the blood draw that it can skew the results.?.? They had a very difficult time drawing blood from him the first time and he was quite upset and was really crying hard. They even had to stop and let him calm down and then finally were able to get the blood drawn.
I am sorry this is so long and disjointed. I haven't been getting much sleep and the little I have gotten was pretty restless. Thanks for any elightment you can share...or any advice!
Kim
My 4 year old son Tanner recently had a blood draw to check his CPK levels...his came back at 8000.
He has always struggled with low muscle tone and was a very late walker. He is also behind in his speech...though in the past 9 months it has really exploded. He has never been able to run or climb stairs and does the Gowers movement to get up from the floor. He also shows some autistic like behaviors that his Dad and I have noticed.
The Dr. that we were referred to commented on his larger then normal calves for a 4 year old. (Though we had never noticed it...we just figured it was how he was built.) He also of course asked about any family history...we have no history of MD. He also asked about Tanners older sisters. Our oldest had low muscle tone issues as a toddler and still has some mild issues, and our middle child has weak muscles in her fingers and hands that she recieves OT for in school.
His Dr. requested another blood draw, and we go back to see him on the 12th of May. I am fairly certain that Tanner has some form of MD because when I called the Dr. office to verify his appointment I was told that that is the day the Dr. sees all of his MD patients. The Dr. also told us that he wants to do a muscle biopsy and a DNA study.
I have been doing tons of reading on the internet in the last week since his latest appt. and am just as confused as ever. I hate the not knowing!
Is it common to have such a high reading for Beckers...or do you think it points to Duchenne? Or even somthing else? I understand that you guys may not know for sure either, but you at least know so much more about this disease than I do.
I also read that if the child was very upset during the blood draw that it can skew the results.?.? They had a very difficult time drawing blood from him the first time and he was quite upset and was really crying hard. They even had to stop and let him calm down and then finally were able to get the blood drawn.
I am sorry this is so long and disjointed. I haven't been getting much sleep and the little I have gotten was pretty restless. Thanks for any elightment you can share...or any advice!
Kim
Replies to This Discussion
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Permalink Reply by Liisa Underwood on
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I'm sure this is pretty crazy for you right now. Our son's first CPK was 12000. The next was 17500. Based on that they figured he has DMD. Genetic testing with blood work confirmed. I'm not really certain what they use from the CPK to determine which type of MD the child has. I'll keep you all in our thoughts and prayers. I know this is not easy. Hang in there!
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Permalink Reply by Kim on
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You're right it is pretty crazy right now. We don't know which way to turn. The not knowing and the waiting is terrible, it has only been a week since we heard the results of his first CPK. We have 2 more weeks to go until his next appointment and I am already a mess. I don't know how I will be in another week! lol
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Permalink Reply by CVita on
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8000 is actually low as it relates to Duchenne, most Duchenne boys of that age have a signficiantly higher CPK, say 12K plus. I suggest that you wait on the muscle biopsy and do the DMD DNA blood test first. If that comes back negative there are still more blood work options you can choose before a biopsy. Not that a biopsy is bad, but I feel you don't need it prior to the blood work. Did Tanner present with any unusual muscular symptoms at birth?
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Yes, thats what I thought as well...that 8000 was low for Duchenne. But it also seemed high for Beckers. That is what caused me to question the possible high reading from a very upset crying child.
Tanner seemed fine at birth and seemed to roll over and sit up on time or maybe a bit late, but really no cause for concern. He never crawled, he rolled everywhere lol. So that was the first thing we noticed, and he started walking at 25 or 26 months. The only other issue he had was a milk protein allergy, but he outgrew that at about 2.
I just feel so lost.
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Permalink Reply by Michelle Gonzales on
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My Nicolas' CPK was at 11000 when he was first tested with just a blood draw. When we went to Cincinnati to see Dr. Wong on the first visit, his CPK came in much lower at around 8800. I've been told that it fluctuates, but will always remain high (which is why the liver will overwork itself). I would absolutely suggest the DNA testing of course, because that is pretty accurate and will even let you know the deletions or duplications you child has, and you will know for certain if it's becker's or duchenne's. Please do not get a muscle biopsy as this is not necessary and it's invasive to our boy's muscles, which they do not need in their present state.
there are several neurologists and other doctors who are excellent with any and all questions by phone and/or email. Nicolas sees Dr. Wong in Cincinnati, and I've spoken with and exchanged emails with Dr. Biggar in Canada.
I'm sorry that you are going through this right now, and I know and been in the crazy and upsetting beginning to our DMD journey. But we're 2 years in (Nicolas is almost 7 and was diagnosed just before turning 5), and we just enjoy every day with our little guy. We also have wonderful support and we have PPMD!! If you need anything or are looking for advice, doctors, or just to vent.... we're here!
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Permalink Reply by Stefano Bellon on
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Hi Kim,
Sorry for my poor english: I can understand perfectly your sorrow: my son Antonio has severe Becker muscular Distrophy (BMD).
Here, few things:
I think that the olny way to konw for sure the MD form of Tanner, in case, is to have a Muscular Biopsy (Biopsia muscolare in italian): doctors takes from Tanner leg a small sample of muscular tissue, so they can see if there is some DNA mutation and, in case, the protein levels expression (as you probably knows, DMD and BMD both depends from a protein missing in the body's cells (distrophin)).
For exemple: Antonio shows a 10% of distrophin levels in his muscle cells: boys with duchenne, usually shows max. 4% of this protein in their body, it seems to me. But, this small difference on the distrophin percentage still enable Antonio to walk (not to run or jump). He's 17 years old. So, I think you must have this kind of answer from your doctors, first of all, starting from my personal experience.
Again: fortunately, science is now very near to the treatements: a real revolution has completely changed
the perspective of life for our sons, and escpecially for the youngest boys!
Un caro saluto,
Stefano (Venezia, Italy)
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Permalink Reply by Danelle Dickerson on
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Kim,
For us, after the CPK levels were tested, the next step was a DNA analysis for a duplication/deletion. This came back back relatively quickly. Our son was negative for a duplication/deletion, and our neurologist mistakenly told us that our son did not have DMD. Then we received the actual test results in the mail which said that yes, he was negative for a duplication/deletion, but still had 33% chance of having DMD through a mutation. DMD was back on the table. The third step was to have a full DNA analysis done which took months to get the results. The fourth step was to have testing done on my DNA sample looking at the same problem spot that caused my son's DMD to see if I was a carrier. The whole process took almost a year. It took 6 months from the first thought of DMD to the closest MDA clinic confirming it based on symptoms alone (while waiting for full analysis DNA). So, yes, the wait is agonizing, but you're doing the right thing to educate yourself. I didn't even know what DMD was before seeing a hand-written note on the bottom of our pediatrician's medical records. And, you're in the right place. The knowledge represented here is incredible. Plus, everyone here understands exactly what you are going through, which even our closest friends and family can only do to an extent. But, be sure to take breaks from all of this. It can consume you at first. My wake-up call came when my husband told me that my oldest asked him why mom was crying all the time - and I thought I had hid it pretty well. I realized that I didn't want my kids (4) to remember a dark cloud hanging over our family while they were growing up. It started with me. You know the saying, "If momma ain't happy, ain't nobody happy!" So, go slow, take breaks occasionally, and give yourself a break lots.
Danelle
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Permalink Reply by Sindy Boldizar on
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Kim,
Your story sounds very similar to mine, but my son was about 18 months old when they started all the test his first CPK came back very high and they said we should take it again, because that blood test can get messed up very easy.
It wasn't until he was 2 1/2 and dxt. with DMD. He has a older sister who shows no sign of weak muscle tone and MD does not run in the family. Although the Doctors said we should NOT do a muscle biopsy, because it is very painful and gives the same results as blood work. However in the future if my son was going take certain drugs it may require a biopsy. He has not had one and is almost 4 and 1/2. My son also has speech delay and when he was younger had signs of autism. I agree the worst part is not knowing. I felt if I did know I could do more research and help him the best I could.
Hope I helped. I love this web site....................Sindy
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Permalink Reply by Keith Van Houten on
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A DNA test alone will not tell you with certainty if it's Becker's or Duchenne.
It will give a strong indication as to the phenotype. The DNA test will determine the mutation (usually). If that mutation is in-frame, your test report will likely say BMD, if it's out-of-frame, it will likely say DMD. The phenotype predicted is usually made on the basis of the "reading frame rule". A study has been done using the patient outcome registries that shows the reading frame rule holds true about 93% of the time. My son is one of the 7% of cases that don't follow the rule, and there's others on this board in the same situation as well.
I'm not sure that a high CPK number necessarily means it's DMD. My son's test was 18,000 when initially diagnosed, and three different neurologists called it BMD. Very few conditions cause high CPK. Our neurologist told us that a number like ours was 99% sure to be some type of MD, unless you'd recently had some kind of serious crushing injury.
Combining a DNA test result, the patient registry information for the same mutation, and the patient's physical presentation can give you a pretty good idea of which phenotype you're dealing with.
If you want to know with absolute scientific certainty whether it's BMD or DMD, I believe Stefano is correct. You need a muscle biopsy to look at dystrophin levels. The 4% threshold for BMD he used is new to me, though, I thought it was 0%.
You definitely need the DNA test before doing a muscle biopsy. If your neurologist wants to do one before getting a DNA result, I'd ask why.
Good luck.
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Permalink Reply by Kelvinsmom - Michelle on
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My son had a high Ck level each time drawn, but, as his doctors say, it can be very different and in many boys, a high number means that they still have a lot of muscle to act on, and could be Becker, but a high number is "normally" Duchenne. My doctors don't like to use CK numbers for determining anything, except to get a start. My son however, had no delays with walking, sitting, crawling, etc. as a little boy. He walked at 12 months, etc. but he did fall. Every child is so different and once a genetic test is done, it will help, but there is always that nearly 10% either way that being out of frame or in frame doesn't necessarily remain true for the phenotype of Duchenne or Becker. Getting a genetic test is the best start, not the CK level, although the CK level is a start. If someone wants to know 100% how much dystrophin is produced, the only way is a biopsy, but we aren't doing it until we need to, if ever or if we are in a trial. It will tell folks what exactly is going on, but, again, we would still proceed the same way, no matter what. Either way, you are in the best place you could be to help Tanner. This website will help you in every aspect of life. My son did have some speech trouble, but without assistance and no therapy, came through it fine. Kelvin is 6 1/2. Take care, Michelle
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Wow! Thanks for all the info everyone! You all are so great and I can tell that there are many many caring people here on this website.
The physician Tanner is currently seeing is a Dr. Robert Fieldman from Boise. We have only seen him once, but from googling him it looks like he is the Medical Director for the MDA Clinic and Pain Program.
Will we be referred to a neuro. once the diagnosis is made? Or, do we need to seek one out now? There seems like so much we need to look into and so much to do. It's kinda overwhelming. But, I guess we will just take it one day at a time.
Thanks again everyone for all the great info!
I guess my husband and I need to talk to Dr. Fieldman and do some research on the muscle biopsy to make a more informed decision. I never realized that there were differing opinions on whether or not it was needed.
Also, what sorts of question should I be ask Dr. Friedman regarding his experience or course of actions he likes to take. Is there anything I need to be aware of?? I am assuming he must have some experience because of his position with the MDA clinic.?.?
Kim
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Permalink Reply by Karen Barnett on
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Hi Kim,
Everything you are describing about your son sounds very much like my son's earlier years. He also has the very large muscles. They were always so well defined and large that we used to comment that he looked like was going to be really strong. My son is 8 now, diagnosed with DMD at 5. His CPK at diagnosis was about 18,000. He gets it checked every 6 months and it has gone from 5000 all the way up to 42,000. HIs last one was 8600 (taken 1st thing in the morning). I really don't know how much of an indicator CPK is for DMD or BMD. I have never heard that it was before. Physical activity before a draw can raise the number. I agree about the blood test getting done first. It took about a month to get the results on our son. There was no need for a biopsy but like in Keith's case I can see the need.
I guess my advice to you is don't' just assume because your doc's an MDA doctor that he knows a lot about DMD. Many don't and can be very unproactive in the care. Ask how many DMD patients he see's and do your research (like you are doing). This is a greae site for info and support.
I'm sorry you had to find us and I know how you are feeling right now. The first few weeks/months of getting the news is so hard. I can vividly remember my emotions - the shock and sadness like it was yesterday. It will get easier.
Take care,
Karen
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