Re: Re: NV & metabolic testing

[Guest guest]

, I am in Ellicott City. We saw 1 dr a long time ago who

misdiagnosed Matt as autistic. (She was pretty cold too.). Thank

goodness she left KK then we saw Dr. Leppart and she said the

apraxia is " not neurologically appropriate " but had nothing else to

offer. Matt has global motor planning issues, not just speech issues.

Univ of Md has a support group (someone posted about it on this

board). I contacted someone there and got Dr. Wilms-Floet's name. I

hope she has some good info to help us. Matt's speech therapist is

Barbara in Marriotsville. Who is your speech therapist?

Noelle

Sent from my iPhone

On Apr 17, 2010, at 1:41 PM, " kellyallan30 " <kellyallan30@...>

wrote:

> Hi Noelle,

> We saw Dr. - she diagnosed my then 15 mo old w/ hypotonia

> (he also has apraxia and sensory integration disorder). Keegan was

> non verbal at the time, so we had no apraxia diagnosis. My only

> follow up w/ her was to come back in a year. I have called to ask

> about Omega supp. and NV to which I got the reply that there's no

> research supporting the use of said supplements and that she

> personally would not recommend them but because they won't hurt him

> she said I could give it a try but shouldn't expect any gains. When

> I brought up the CAS diagnosis, I was never asked to come in for an

> eval. I had to call back and make an appt. I realize that there are

> children w/far greater challenges at Kennedy, but I get the feeling

> of being blown off by this dr. On the flip side I have finally found

> a speech therapist w/ years of experience w/ apraxic children who

> seems to be making progress w/ my son. Where abouts in MD are you?

>

>

> > > >

> > > > Sharon I got lots of Tanner's testing done through his

> > > pediatrician and it was covered by our insurance- really. Just

> cost

> > > me co pays. I believe if you go to your pediatrician and share the

> > > findings you may be able to get him to run some of the tests -just

> > > like Robin's neuro MD is running for her child.

> > > > > > In case it helps, here is the list of tests she recommended:

> > > > > > Urine amino & organic acids

> > > > > > lactate

> > > > > > pyruvate

> > > > > > comprehensive metabolic profile

> > > > > > plasma amino acids

> > > > > > CBC

> > > > > > CGH/Microarray

> > > >

> > > > But I would for sure get a second opinion on all the tests that

> > > were run. Not that the testing was poor or anything like that -but

> > > you want to know for sure. Just like nutriiveda somehow helped Mel

> > > Ketchum's brain why not find out if the surges you are seeing have

> > > led to improvements in any of the previous testing.

> > > >

> > > > And...the one area of concern to me is the low carnitine

> testing.

> > > I have lots about this in the archives -here's just a bit:

> > > >

> > > > Carnitine deficiency is far more common in our group of children

> > > then in the general population. This is also reported in the

> autism

> > > literature as common in ASD. If a child has low tone, part of the

> > > work-up should include plasma carnitine (total and free), and

> acetyl-

> > > carnitine, and a complete metabolic panel, CBC (basic labs).

> > > >

> > > > If tested low on carnitine supplement, the child's level would

> have

> > > > been even lower prior to supplementation. Carnitine is benign,

> so to

> > > > supplement without a deficiency won't hurt, but probably won't

> do

> > > > much. However if truly carnitine deficient...you would want to

> know

> > > > and get it worked up.

> > > >

> > > > Regardless of the cause of the deficiency...it will in itself

> cause

> > > > problems.. Low levels are associated with sudden death!!!! Also

> > > with dilated cardiomyopathy...another life threatening condition

> > > that is avoidable with carnitine supplements. Supplements will

> > > IMMEDIATELY impact your measured plasma level. It will not take

> > > months. But if carnitine is not absorbed or there is rapid

> turnove,

> > > higher doses will be needed to get the level to normal.

> > > >

> > > > This is an important finding from the past few years...apraxia

> and

> > > carnitine deficiency. More evidence that this is a medical

> syndrome

> > > and not a developmental issue. All kids with apraxia should be

> > > screened for carnitine.

> > > >

> > > > Some links online:

> > > >

> > > > There is primary and secondary

> > > > http://emedicine.medscape.com/article/942233-overview

> > > > This one is just about primary

> > > > http://ghr.nlm.nih.gov/condition=primarycarnitinedeficiency

> > > > About secondary

> > > > http://www.carnitormetabolic.com/secondary_deficiency.html

> > > >

> > > > Anyway I for sure would get on the phone next week with all the

> > > details from this group- previous testing -and see if you can get

> > > those tests run again through insurance through 's ped.

> Could be

> > > you won't have to go GFCF...but if you do -nutriiveda is GFCF

> > > >

> > > > =====

> > > >