Clayton Update - LONG

[Guest guest]

Hi all:

Sorry for the cross posting BUT I feel that I can only write this once at

this time. We have now been at Kennedy Kreiger since last monday (11 days)

and a lot has happened during these past 11 days - including receiving a

diagnosis.

Clayton has undergone lots of tests. His anal mamotery was normal and have

not gotten the results of the rectal biopsy - but are assuming they are

normal. He has also had LOTS and LOTS of blood work - MAINLY Metabolic.

He has been followed by Dr. Kelley and he has been doing the

metabolic workup. AND THE RESULTS ARE IN - CLAYTON HAS A MITOCHONDRIAL

DISORDER. Dr. Kelley said that he does not think a biopsy is necessary at

this time (he did a skin biosy - results not in yet) BUT based on all his

blood work is positive that he has a mitochondrial disorder - most likely

Complex I. He did lots of blood work and urine organic acids. He did to

sets of fasting blood work (16 hour fasting - with nurses checking his

glucose level through out and monitoring him). Both times his lactic acid

went up alot. His normal is about 2.7 (2.0 is normal). After 2 hours of

fasting it was 3.2, after 4 hours it was 3.8 and after 16 4.5. (the first

time). The second time his 16 hour fasting lactic acid was 5.2. Also his

amino acids both fasting and non fasting were completely out of wack and

especially his alainine was very high. Also his urine organic acids were

completely out of wack. THis combined with his symptoms and Dr. Kelley's

examination, review of his records and experience Clayton was diagnosed. He

has actually seen 10 kids with basically all the same symptoms as CLayton.

He actually said that his PDD/autistic type behaviors were almost definitly

causerd by the mito. So now we are starting him on medications and certain

vitamins. He was started on Carnitor and Thiamine yesterday and lipoic acid,

Co-enzyme Q and 2 others will be added. He says that he has had good results

with kids like Clayton. He said his GI problems, proximal shoulder and upper

weakness was related too. He also said that the earlier the better the

treatment is started. He also said that Clayton will always get more tired

and overheat easioly and get sicker. He also said that he will work with my

ped and the He (Dr. Kelley) will be in control of his meds. He said that the

tremors were also caused by this and also that the staring spells and shaking

were almostg definitly seizures BUT that at this time he would not recomend

anti-seizure meds BUT does want us to have Dystantin(sp) on hand as it is

likely that is he does have a seizure it will be a big one. He said most kids

like Clayton do have seizures.

This has been alot to digest that my son will now be on meds for the rest of

his life. However, he did not think it was maternally inherited, BUT wants to

run a 16 hour fasting urine organic acids, lactic acid and amino acids on

Cole and Jake. We will have these done in the next month. Also he said that

Clayton would need to eat every 3-4 hours and could not go more than a

maximum of 6-8 hours of not eating. I guess we are not geting rid of the

g-tube anytime soon.

On an interesting note that also ran a cholesterol test on Clayton as my

family has a genetic predisposition for high cholesterol. WELL as with

Claytom it was not high BUT VERY LOW (ldl) THis also can cause autistic like

behaviors so in addition to all the mito meds he will also need to get

cholesterol (we will not start this for a couple of weeks to a month).

Also Clayton had his brain MRI today and is was mainly normal but the

developmental neuro noticed something on it and NOW dr. Kelley needs to see

it as it is probably related to mito.

On the other hand Clayton is still not really eating - but at least he is not

screaming the entire time they try to get him to eat. Dr. Kelley feels that

the mito is one of the reasons he is not very hungry and that maybe the

carnitor and other things will help his appetite. They want to keep us here

at least until June 21st, assumning that we can get the insurance company to

keep him here as they classify his eating issues as VERY SEVERE. He has

still not let the therapist get one bite of food in him although his

inapporiate behaviors have slowed down.

His sensory issues have also been classified as very severe and while he is

not autisitc or PDD his behaviors are like that - hand flapping, some

rocking, severe sensory integration (which effects his eating).

THis has all been a lot to digest and I am not sure how to deal with it which

is why it has taken me almost 48n hours since receiving the news to post. If

I have offended anyone dor being off topic sorry - BUT I need to let some

venting out to my friends.

Love,

Sharon

mommy to Jake (6) and fraternal twins (3/30/97) - Cole -(nda) and Clayton

(mitochondrial disorder, eosinophilic gastroenteritis, food allergies (milk,

soy, eggs, wheat), g-tube, Nissen, latex allergy, DD, sensory integration

disorder tremors, etc.........)