Hello everyone,

Here's the scoop: Isaac went for his follow-up visit with his neurologist yesterday and we found out some interesting things.  

1. He does still have "low lying cerebellar tonsils", but not low enough to be classified as abnormal or as a chiari malformation.
2. His lactic acid in his blood is on the VERY high side of Normal (2.1). Does anyone else know what their child's is? This is apparently normal for breastfed babies, but Isaac hasn't nursed in over a year!
3. Developmentally he is excelling with just one exception! He does not jump with 2 feet. He did in the last 6 weeks learn to climb stairs without holding on to anything, which he was almost 6 months late in learning. Intellectually, he's awesome!

Here's what Dr. Finkel, the neurologist, would like to find out:

1. What are his episodes like over a period of time, not just one night in the hospital? I am going to talk to the GP today!
2. Are there any other misfires in the neuro pathways at the brainstem besides the breathing ones? We are doing a BAERS test next Wednesday. This is technically a newborn hearing test, but will let us know if there are any misfires along his hearing pathways and if so, then there are probably others to be found! It is non invasive with a VERY mild sedation...
3. Why his lactic acid is always on the higher side? We're going to have to subject Isaac to this blood draw every 3-6 months until it either gets too high for doc to be comfortable or it stays normal for 3 consecutive draws.

I think that's it. If anyone has anything to add or questions to ask us, we'd be glad to hear and answer....We're all in this together!  I thought some of you might be intrigued by the BAERS test thing. I'll let you know how it goes!

Tiffany, mom to Isaac who will be 2 next week, but thinks he's 4 already!

I'm new here.  Since his lactic acid is high, I would be interested in finding out about mitochondrial myopathy. That is one of the symptoms. My daughter's lactic acid is on the very high end of normal as well. One of the other symptoms are muscles weakness, which may or may not present at his age. It may just be something to look into or bring up at your next visit.

Good luck with all the testing. :)

-Sarah

We are going to monitor the lactic acid every three months with the neurologist. He certainly doesn't lack for strength in his muscles. I can't hold on to him for blood draws anymore and daddy has to come with. But thanks for heads up. I will ask his neurologist about the mitochondrial myopathy when we see him in June!

We got the results of the BAERS test. While we are not really sure if it's good or bad news yet, the results are completely normal. He has no issues with the hearing pathways of the brain.

I would be interested in hearing more symptoms of the mitochondrial myopathy. He certainly doesn't have any muscle weakness, but maybe there are others??

Thanks..We go back to Neurology on June 16. We see pulmonology on May 30 (getting a monitor with pulse ox?)

Tiff

Sorry to butt in. I have posted my own thread but haven't had any replies so far.
Could i ask what the relevance is of the hearing issues as well as muscle weakness? My son has CSA, muscle weakness in his legs and is aided for hearing loss.

R.

Our son has CSA. He has perfect hearing and no muscle weakness to our knowledge. They did the BAERS test to see if there were any misfires along the hearing pathway in the brainstem. It was simply the most informative and least invasive test we could do for now.  His central apnea is as of yet completely unexplained and we are just trying to learn as much as possible about possible neurological issues that maybe won't fully manifest until he is older, but we might be able to discover now..

The muscle weakness was brought up because my son has continued high (to borderline high) lactic acid levels in his blood and this can be indicative of mytochondrial myopathy. I did some research last night and don't think this is our son's issue, but were curious about learning more.

I hope this helps! Tiffany

Lactic acid build up can mean a lot of things. I'm not 100%, but I think it is a symptom of the muscles over exerting themselves. so it could just be that your son continues to have high lactic acid because he is putting forth a lot of effort in his sleep? Again,  I could be wrong. It would require some research. But I think it may be a good idea to check into it. As far as I know, though, if there are three organs affected, then they will really start to think MITO. MITO affects every child differently.

Here's a link to a MITO board if you are interested in asking some of the parents or just lurking to see what they have in common.

http://www.parent-2-parent.com/forum/forumdisplay.php?f=121

We are looking into MITO because of her chronic fatigue and so many other things. But the main thing is how very exhausted she gets throughout the day (which may also be due to sleep apnea and we will find out at the end of the month). She has also had low muscle tone for a long time and appears to have a lot of the symptoms including the lactic acid.