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Pediatrician suspects mitochondrial disease?

post #1 of 9
Thread Starter 

We've sent some samples off for testing, but he said it would take a bit to come back.

 

My three year old has a long list of 'stuff' but we've never really been able to find a reason for any of it.  Nothing is huge, it's just several quirks we work with all at once.  

 

Hypotonia

Mild hearing loss

Expressive language delay (it took a year, but his receptive language is on target finally- YAY!) This is probably not related to the hearing loss- but it certainly isn't helped by it either. 

Sensory Processing Disorder- possibly spectrum related, but he just turned three and they don't want to make the diagnosis yet as he is making HUGE progress. Current PDD-nos. 

Autoimmune Hypersensitivity

Poor coordination

Diabetes Insipidus (that's our most recent development)

Anemia

 

 

 

Most days he's really quite a "normal" little guy, he does tire easily but not alarmingly so.  I guess, if we find an answer, at least we have an answer- but I don't know a lot about mitochondrial disorders/diseases... I suppose I'm off to research land to learn more, I just needed somewhere to put this as I process... 

post #2 of 9

Were you give a referral to a geneticist?

 

Please tread very carefully on researching mito diseases. A lot of the stuff out there is about the more severe versions of the disease. In other words, try to not scare yourself to death when you don't have a diagnosis and most of what you read may not really be very reflective of your son's situation. In good news, if it is mito people on the milder end sometimes respond quite well to treatment.

post #3 of 9
Thread Starter 
Quote:
Originally Posted by Roar View Post

Were you give a referral to a geneticist?

 

Please tread very carefully on researching mito diseases. A lot of the stuff out there is about the more severe versions of the disease. In other words, try to not scare yourself to death when you don't have a diagnosis and most of what you read may not really be very reflective of your son's situation. In good news, if it is mito people on the milder end sometimes respond quite well to treatment.


 

We had samples shipped off to one- there isn't anyone local (or within a reasonable distance at all)- the ped and geneticist will be doing a lot of telemed work apparently.  I have to say, I kind of love this ped.  He's brand new and seems really on top of things, but isn't jumping on 'medicate everything to fix it right now. He looks like a teenager, but he seems to have a good balance of 'let's figure this out' and 'let's start with supportive lifestyle stuff instead of meds'.  We'll see. 

 

We are moving and will have access to more services in the area we are heading (major metropolitan area) but for now we've been dealing with what we can access. 

 

Our pediatrician won't guess at prognosis, but says if it is mito stuff- it's probably good that the symptoms my son has, while numerous, seem to be pretty easily managed and not too severe at this point. 

 

I'm just at a loss- and yes, the mighty google is full of terrifying stuff. Eep. 

post #4 of 9

I worked with a child with a moderate mitochondrial disease.  She responded really well to dietary changes as part of her treatment. (And she was a great kid to work with!).  As said earlier by Roar, be cautious researching.  I tried to research a lot when I worked with this little girl, and besides that some cases on the net may be more severe, there's also a very broad range of mitochondrial diseases and types of symptoms.  I had access to some pretty good medical information and research from work, but there was so much variety to wade through.  If it was me, I'd more research for a very general understanding, and not get into specifics until you have the results back so that you know if he even has a mitochondrial disease, and if so, what type/sorts of symptoms.  I'm glad you're liking your new pediatrician.  It makes such a difference!

post #5 of 9

There is a ton of help for Mitochondrial Dysfunction and Disease.  They are quite different though because of severity and symptoms.  Do you do any supplements for it? Dr. Kendall Stewart offer Mito support - great, clean product.  So does Pure Compounding out of Naperville, IL.  I believe Kirkman labs carries one as well.  Umbiquinol, NAC, L-Carnitine are key players in keeping cellular energy(mitochondria) moving and lubed.  Great Omega's like SPEAK, if the kiddo can swallow capsules or Barleans' Swirl are great options too.  The key is to get a great product on this - not all supplements do what they say, contain as much as they say or as pure as you need:)

 

 

Do you mind me asking who you are seeing? Not many Mito doc's who really get it out there who really get it or reading the lastest great studies available.:)

 

post #6 of 9

What other tests has he had? Hopefully endocrine tests and an MRI?  Those symptoms could be caused by many things. Is this your general ped who has ordered these tests or a specialist? I hope you get answers soon. And I agree don't research mito disease too much just yet . . . there are many forms of it and it can be confusing and scary.

post #7 of 9

We are in a very similar situation!

Our neurologist just suggested this for our dd as well. Have yet to test but that is our next step.........

Her symptoms are:
Profound hearing loss

suspected autonomic dysfunction

Sensory processing disorder

strabismus and nystagmus

previous spasmus nutans that she has grown out of

suspected hypotonic cp

severe developmental delay

all doctors also thought she had diabetes insipidous but her tests came back normal so we are still looking for an anwer for those symptoms.

 

Can I ask what all the testing consisted of? was it just blood work? I've read that sometimes they also need to do a muscle biopsy too.......not sure I like that!

post #8 of 9

just wanted to send along hugs.

post #9 of 9
I'm sorry I missed this. Did you see this thread about mito? You do have markers for either metabolics or genetics.
http://www.mothering.com/community/t/734501/mitochondrial-disorder-information-and-video/60 A pediatrician could run initial labs (based on the UMDF site recommendations) if they were willing. Who you see really matters for Mito...there is still a great lack of awareness and there are treatments that can help. I would not treat before I tested if you can get testing.
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