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New Here…Waiting on more Tests

Posted by on Apr. 18, 2012 at 9:00 PM
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Hi :)  I'm a mom to many kids (a few of them with special needs), but we are most concerned with our 4 year old DS.   He saw a ped neuro when he was 2 and had an EEG & an MRI of his brain (both were normal). He was diagnosed with hypotonia by the neuro, along with a pronated stance, and flat feet.  She had other concerns (she called him "quirky"), and we were supposed to have a follow up with her, however, the appointment was months down the road and our insurance changed during that time and we weren't able to see her again.   

We've had concerns about his development since birth.  He was late with all of his physical milestones, but not so late that the doctor was overly concerned.  For example he didn't even roll over until he was almost 8 months old.  He didn't crawl until almost a year, didn't walk until almost 15 months, etc.   Even when he did learn to walk, he would fall down ALL the time and bump into things.   His balance & coordination have always been poor but we just chalked it up to the hypotonia.  

We enrolled our DS in Early Intervention shortly after he was dx with hypotonia.  He was receiving OT, PT, and speech therapy.  By age 3 he was released from the program because they said he was "typically developing" and didn't qualify to move on to the next program for kids over the age of 3.   

Over the last year and a half we tried to pretend that things were normal and that DS was just overly clumsy becasue of his hyptonia.  But, we were still skeptical that he was "typically developing" as we were told by EI.  He is still falling down and running into things ALL the time.  He complains of leg pains, not wanting to bear weight on his legs at times, having trouble climbing things, being tired even though he hasn't walked very far at all, etc.  

I took him back to our family doc last week as it had been a while since we've addressed our concerns with our doc.  We did have his vision checked by a pediatric eye doc twice this past year and his vision is normal so we know his balance problems are not related to poor vision.  His doc asked him to do a few things like climb up on the exam table and DS couldn't do it.  However, our 2 year old DS who is really tiny for his age could muscle himself up without any problem.   Our doc said based on DS's tall stature (he's in the 97th percentile for height & weight), that he should've been able to climb up on the table.   After explaining all of our concerns, the doc mentioned "muscular dystrophy" as a possibility and I felt like the wind had been knocked out of me :(   MD was never on our radar prior to last week.  I made the mistake of coming home and Googling and of course the things I read were pretty scary.  

We're waiting on a referral to see a specialist.  I'm not sure who his doc is referring us to yet.  It will probably be another neurologist and we may be seeing a geneticist as well.   I'm just really hoping & praying that this comes back as just a bad case of hyptonia.  

Thanks for listening and letting me get this all out :)

by on Apr. 18, 2012 at 9:00 PM
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Replies (1-8):
newmommy-again
by Member on Apr. 19, 2012 at 5:38 PM
We are sometimes our own worst enemies with google. But you are at least aware of it. In the meantime see if you can get him back into PT to at least help him compensate. There are other possible diagnoses too. Keep us posted.

BTW - my DS sounds similar but he had a very rare disease.
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andersonmommy2
by on Apr. 20, 2012 at 4:35 PM

 I wonder if your son doesn't have what my son has. My son has what is called hereditary spastic paraplegia. Stumbling, losing balance, flat feet/high arch feet, eye problems, and a lot of drs don't know about it and blame it on other things such as Cerebral Palsy. My son's brain MRI came back normal and his spinal MRI came back normal but other neuro things led to the conclusion of HSP. Maybe ask your dr. about it and if it could be a possibility. Oh and speech is another part of it too. My son is almost 2 1/2 and still has not taken his 1st steps yet.

DB4me
by on Apr. 20, 2012 at 5:04 PM


Quoting andersonmommy2:

 I wonder if your son doesn't have what my son has. My son has what is called hereditary spastic paraplegia. Stumbling, losing balance, flat feet/high arch feet, eye problems, and a lot of drs don't know about it and blame it on other things such as Cerebral Palsy. My son's brain MRI came back normal and his spinal MRI came back normal but other neuro things led to the conclusion of HSP. Maybe ask your dr. about it and if it could be a possibility. Oh and speech is another part of it too. My son is almost 2 1/2 and still has not taken his 1st steps yet.

Thank you, I will check this out :)  I've never heard of it before.   We are also looking at Ehlers Danlos Syndrome (EDS) as a possibility as i'm almost 100% that I have the hypermobile type 3 EDS (I was already diagnosed with hyper joint mobility syndrome & mitral valve prolapse which are 2 strong indicators of hypermobile EDS).  Unfortunately his doc wasn't convinced even though DS is extremely hypermobile like myself but Ehlers Danlos is fairly rare and most doctors don't know much (if anything) about it.  It's a connective tissue disorder that cause a lot of pain, along with clumsiness.    

newmommy-again
by Member on Apr. 20, 2012 at 8:24 PM
Do your own research and if you need to find a genetics doc or a childrens hospital where there is a chance the docs there will know more.

Can your son look up without moving his head? Does he get weak legs if he starts laughing? Is he losing developmental milestones? If the answers are no, yes and yes consider niemann pick type c.
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DB4me
by on Apr. 29, 2012 at 1:45 PM

I'm starting to get really frustrated!  I'm STILL waiting back from the doctor to find out which specialist my DS is being sent too.  It had been 2 full weeks since his appointment and I hadn't heard anything so I called on Thursday and the doctor's office hadn't even touched his chart so nothing had been done yet! UGH!  

So as it stands right now they said I have to bring DS in for blood work and then after the blood work, he will get referred to a specialist.  I said "That's fine.  When can I bring him into the lab?"   The medical assistant told me, "Well the doctor hasn't decided which tests he wants ordered yet so i'll call you back and let you know when you can bring him in for the lab work".   Well that was Thursday morning and of course no one called me back so now I have to call them back on Monday and find out if the labs have been ordered or not.   Then who knows how long it's going to take to get a referral to a specialist! 

We had a horrible night on Friday.  DS woke up in the middle of the night in a ton of pain.  He was screaming and crying from the leg pains and it was absolutely heartbreaking to watch.   DH held him and walked him around the room and we gave him some Children's Motrin for the pain.   Luckily the meds kicked in after about 15 min and he went back to sleep but that was the longest 15 minutes of my life :(    I hate seeing him in so much pain and I hate that he can't do the same activities that the other kids can do.  He tries to run, jump, and climb like the other kids but he falls down and gets hurt, or he overdoes it and then wakes up in pain from overusing his legs.   

Sorry to vent but I just have a lot on my mind and i'm tired of waiting around.  I just want to figure out what is going on with DS so we can help him :(

newmommy-again
by Member on Apr. 30, 2012 at 7:42 AM
Stay on the doctor. This is your child and don't let them just brush you off. Call every day if you have to - the squeeky wheel gets the grease! Or beter yet call them and YOU tell them that you want him tested for certain things and if they won't order the tests you will find someone who will.
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kimber2465
by Member on Apr. 30, 2012 at 10:29 AM

yes yes u have to stay on the doctors!!!  when my daughter was little( she is 25 now)- the very first pedi would just blow us off- so i off i went to another,ect.  we went to four before we got one that would listen to us!!  lol i just had it out with two of my grandson doctors about not listening, and being on the same page.

DB4me
by on May. 9, 2012 at 2:03 PM

Thank you :)   We had blood work done yesterday so now we wait for results and hope that everything comes out okay.  I'm a nervous wreck and just want this to be over with :(

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