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Old 04-17-2012, 01:14 PM   #1
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Our 4 year old is going to be tested soon

Hello

I'm new to the health boards. My 4 year old son is going to be tested in the near future for MD. I'm a little (okay a lot) nervous as muscular dystrophy wasn't even on our radar until last week when I took him for a follow up check up with his doc.

My son has had some special needs since birth. He didn't move in the womb much at all and was wedged in one position. He was extremely floppy as an infant and was late with all of his physical milestones (rolling over, sitting up, crawling, walking), but not so late that the doc was overly concerned. He was also a bit bow-legged the first few months (but now his legs are fairly straight but his knees touch each other), he has flat feet, and a pronated stance. Even when he did start walking he was constantly falling down. It seems like he would walk a few steps and tumble to the ground. We also noticed he would bump into things a lot and just didn't seem that aware of his surroundings. He started having what we thought were seizures in the middle of the night around 15 months so we were referred to a pediatric neurologist. She ordered an EEG & an MRI of his brain and both were normal. She diagnosed him with hypotonia and told me he was "quirky" and said she couldn't quite put her finger on it, but that he may have some type of genetic disorder. He only had 2 seizures and hasn't had any since he was 18 months that we know of.

We were supposed to re-visit her in about 6 months, but we got new insurance during this time and we couldn't take him back there. During that time we got him enrolled with Early Intervention (something the neuro recommended). Our son had a speech delay and was put in speech therapy, OT, and PT. He was in therapy for a year and once he turned 3 he was re-evaulated to move on to the ECSE program for children over 3, but he didn't qualify. The EI people told us he was "typically developing" at that point and not to stress.

Well it's been a year and a half and he's not any better. His speech is developed so that's not a concern. However he is still falling down a lot, is extremely accident prone, runs into things, has difficulty climbing, complains of leg pains a lot, gets fatigued easily, can't walk long distances, etc.

We have had 2 eye exams over the past year and his eye sight is fine so he's not bumping into things because he can't see. When I took him to our family doctor last week the doctor said his muscle tone is still really low. Our son is also large for his age (97th percentile) so the doc asked him to climb up onto the exam table. Our son couldn't do it, despite multiple attempts. However, my 2 1/2 year old son who is tiny for his age had no problems pulling himself up. The doc said with our son's large size he should've been able to easily climb up onto the exam table.

That's when the doc said he wanted to refer our son to a specialist to have him tested for MD. In the last 4.5 years that's the first time i've ever heard the term MD mentioned. I didn't think too much of it at first because honestly I don't know much about MD, but when I came home and Googled I became concerned. We haven't gotten the referral info yet so i'm not sure who my son is being referred too but I feel like i'm going a bit crazy. I don't have anyone to talk too. My husband is the type who doesn't like to talk about stuff like this until we have a definite diagnosis. He is optimistic that our son is just extra clumsy and that he will "grow out of it".

Anyways, sorry this is so long. Just needed to get this all out

Last edited by Peanutlayne; 05-02-2012 at 03:01 PM.

 
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Old 04-25-2012, 09:28 PM   #2
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Re: Our 4 year old is going to be tested soon

I hope you are able to have some answers as to what is going on with your son. Not knowing what is wrong causes so much worry.

If your son has MD, at least you will have an idea of what is going on, and you will be more aware of how to help him.

I know that having someone to talk to is important, and this message board helps me a lot. You will find many answers here.

If you have a close friend, perhaps you can talk with them over coffee (tea etc.), as chatting with my friends about my concerns often helps me out.

 
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Old 04-26-2012, 11:03 AM   #3
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Re: Our 4 year old is going to be tested soon

Hi, Kristen,
I have no answers for you, just wanted to say I'm wishing you all the very best.

blessings, Sue

 
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Old 04-28-2012, 06:26 PM   #4
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Re: Our 4 year old is going to be tested soon

Thank you both for the replies We're still waiting on things and it's getting a bit frustrating. I had to call his doctor's office last week to find out why we hadn't heard anything about his referral yet. They want us to come in for lab work first but we're still waiting on the doctor to decide which labs they want to order. It seems that if I don't call to remind them then nothing gets done.

Last night he was in a lot of pain and we had to give him some
Children's Motrin in the middle of the night and rub his legs until he could go back to sleep. This leg pains are just so heartbreaking I feel so bad for him and wish that he didn't have to go through this.

 
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Old 04-29-2012, 04:56 PM   #5
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Re: Our 4 year old is going to be tested soon

I am so sorry to hear about all of the stress and turmoil you are going through right now.

Real quick and not to scare you, I wanted to let you know your description of your son sounds very similar to how my son was at his age, and he has officially been diagnosed with Becker's MD. (The DNA test said Duchenne's, but the neurologist said he's putting it as Becker's because of previous family members with the disease.) Becker's is essentially Duchenne's, but Becker's progresses slower than Duchenne's (but still both are heartbreaking and brutal diseases).

As soon as my son was born, I just knew in my heart there was something not right. It started off with me noticing his enlarged calf muscles. They weren't unbelievably large, just bigger than average. Strangers at a mall, restaurant, etc. would come up and say, "My, looks like you've got a football player on your hands." The more comments I heard the more my heart sank. My son was also a tip-toe walker - he still walks like that now. He also had mild developmental delays, primarily speech. He started seeing a speech therapist at two years of age, and like your son he also was put in an early learning program beginning at three years of age. He couldn't walk far distances at all, he would frequently get bad pains in his legs that would leave him in tears at times, and he was clumsy. He was also very "solid" for his age, but not exactly fat.

I would say if your son has these top three signs: large calf muscles, gets up from the floor while using his hands or has trouble climbing, and has pain in his legs even after walking short distances, ask for a DNA test or a muscle biopsy.

I hope this information is somewhat helpful. I know what it's like to see your child go through such a struggle. You just wish you could take their place so they don't have to suffer and it gets so frustrating dealing with doctors that pretty much have no clue about the complexity of MD. Good luck.

 
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Old 05-04-2012, 12:24 PM   #6
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Re: Our 4 year old is going to be tested soon

Quote:
Originally Posted by em1lyd1ck1nson View Post
I am so sorry to hear about all of the stress and turmoil you are going through right now.

Real quick and not to scare you, I wanted to let you know your description of your son sounds very similar to how my son was at his age, and he has officially been diagnosed with Becker's MD. (The DNA test said Duchenne's, but the neurologist said he's putting it as Becker's because of previous family members with the disease.) Becker's is essentially Duchenne's, but Becker's progresses slower than Duchenne's (but still both are heartbreaking and brutal diseases).

As soon as my son was born, I just knew in my heart there was something not right. It started off with me noticing his enlarged calf muscles. They weren't unbelievably large, just bigger than average. Strangers at a mall, restaurant, etc. would come up and say, "My, looks like you've got a football player on your hands." The more comments I heard the more my heart sank. My son was also a tip-toe walker - he still walks like that now. He also had mild developmental delays, primarily speech. He started seeing a speech therapist at two years of age, and like your son he also was put in an early learning program beginning at three years of age. He couldn't walk far distances at all, he would frequently get bad pains in his legs that would leave him in tears at times, and he was clumsy. He was also very "solid" for his age, but not exactly fat.

I would say if your son has these top three signs: large calf muscles, gets up from the floor while using his hands or has trouble climbing, and has pain in his legs even after walking short distances, ask for a DNA test or a muscle biopsy.

I hope this information is somewhat helpful. I know what it's like to see your child go through such a struggle. You just wish you could take their place so they don't have to suffer and it gets so frustrating dealing with doctors that pretty much have no clue about the complexity of MD. Good luck.
Thank you for the info and i'm so sorry to hear that your son has Becker's My son does have difficulty standing up. He usually uses something nearby to help pull him up. I just asked him a few minutes to sit on the floor and stand up and he kept using my chair or the wall to help pull himself up. I asked if he could try it without using my chair and he kept falling backwards and was getting frustrated and said he couldn't do it I'm starting to get really scared. We go in next week for blood work.

As far as his calf muscles go, it's hard to tell if they are enlarged. He is really large all over, so he does have big legs, but the muscle doesn't necessarily look large. His legs are kind of soft to the touch and it's difficult to feel muscle tone. His doctor noted his body had unusually low muscle tone throughout.

We have gotten the "He's going to be a football player" comment before though. At 4.5 years old he is already over 50 lbs and about the same height as a first or second grade boy. He is already wearing a size 1-1.5 shoe (U.S. sizes).

I'm trying to stay positive and optimistic but I have this lump in my throat and sick to my stomach feeling that just wont go away.

 
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Old 05-07-2012, 12:10 PM   #7
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Re: Our 4 year old is going to be tested soon

Tomorrow we take him in for blood work. Hoping for normal CK levels. I'm very nervous!

 
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Old 05-10-2012, 03:47 PM   #8
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Re: Our 4 year old is going to be tested soon

Just wanted to update that we got blood test results back and they are normal Thanks for the support! Hopefully I can sleep a little easier now as i've lost sleep & weight over waiting for these test results.

 
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Old 05-12-2012, 08:40 AM   #9
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Re: Our 4 year old is going to be tested soon

That is excellent news! I am so glad it worked out for you and your family.

 
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