Neuro/Metobolic Clinic Visit

[Guest guest]

Took Matt to Metobolic Clinic today at ST s hosp in Phila

today. Went over Matts urinalisist and blood work nothing to out of

the ordinary. Levels slightly elevated or lows but not of great

concern. Given Matts previous Mri's, muscle biospy, blood work and

symptoms, and history Dr Marks is leaning torwards MELAS, and spoke

to us today about complex 1 deficiency, but doesnt want to " jump the

gun " until we get blood biopsy done. WE are battling with Keystone

Mercy Insurance who rather pay for Matt to have another muscle

biopsy, (which was disasterous when he had his first biospy 6 years

ago) besides the fact that Matt is M.H. (malignant hyperthemia),

then pay for blood biopsy to find mutation which was not found in

his origion biopsy or in my biopsy. Doc did give us an application

to Athena Lab for waiver of payment on blood works. Will fill out

paperwork tonight and then pray. Matts strength was better today on

examine, and we discussed Matts migrains, which thankfully he is now

telling us when they begin instead of letting them get out of

control and then telling us. We also discussed Matt having another

MRI and MRS, which radiology twice misplaced Matts paperwork and

should have been done by now. (they called me when we got home they

no longer do MRS's (shows brain chemicals) and will discuss this

with Doc as to see if Matt should be referred over to CHOP

(Childrens Hosp of Phila) as Matt has MRI's and MRS's under

anesteshia, because of sensory dysfunction.) Doc wants Matt to see

cardiologist, and we also need to do a follow up with GI. Matts

nutricianist has added Duocal to Matts regiment along with his

pedisure, via g-tube, as Matt has only gained one pound in the past

six months. Matt rarely eats or drinks by mouth and when he does he

might stand one to two teaspoons per serving. Doc feels Matt has

Mito-anorexia as he has seen this in many of his Mito patients. Doc

also has told us to keep using creatine with Matt and has added

Riboflavon, he still will not put Matt on cocktail as he explained

until he knows what mutation Matt has. He explained that just

because creatine, q-10, and carnitor works for me, it might not be

the right cocktail for Matt, and Matts carnitine level was fine. (he

does get some L-carnitine in his pedisure) but not sure if thats why

his level is good. Good news is Doc feels we should start weaning

Matt off of seizure meds as Matt hasnt had a seizure in over 2

years, (im a bit aprehensive as when we spoke to Matts primary about

weaning off seizure meds 4 months ago he replied to me that Matt

doesnt have seizures becuase the seizure meds work) Doctor Marks

wrote a rx for diastat just incase seizures return, but feels they

wont as Matts last 24hour eeg was normal, and it has been over 2

years. Another good thing was Matt strenght was improved during

this examination, but he feels Matt needs PT again as Matts gait is

way off, and hopefully Pt will be able to strengthen Matts hips and

back. WE discussed how Matt fatigues after excersice/activity, and

how purple he gets under his eyes. How tired Matt is after school

and how he struggles with homework because of fatigue. He asked us

how Matts grades are which are A's and B's with IEP, but he feels

as long as Matt is keeping up his grades its not so bad, but we feel

Matt tries so hard to keep those grades (OCD) and speaks about

wanting to be the smartest kid in class, we feel he is pushing

himself so hard that, that is why he is so tired when he gets home

and to tired to deal with homework. He agreed that could be the

cause of Matts after school fatigue, and we should discuss this with

his teacher (who by the way is pushing it with us anyway as when

Matt doesnt do his homework she keeps him from having recess and

makes him do his homework then. Even when i send a note explaining

that Matt was too tired or had a migrain. And it is in his IEP that

written homework is not a nescessity) Matt is included in 3rd grade

and pulled for specials,(high functioning autism-pdd) but i think

Matt can be so " normal " sometimes she forgets he does have special

needs, and who can blame her we forget time to time too. Needless

to say when we got home this afternoon, Bob (daddy) was fustrated,

its so hard to see our ray of sunshine not doing as well as he was

for the past couple years, so well it seemed as if he was outgrowing

Mito, and now with migrains, not being able to ride a bike anymore,

and memory loss (on the ride to hospital Matt asked us when did it

snow)??? Snow which has been on the ground for only 2 days now, we

watched it snow together that evening, and made a big deal out of an

inch of snow the following day, and Matt didnt remember. And cannot

recall names, for example his overnight nurses names, his nurses

have been with him for 3 years, and names of friends and reletives

too. Doc did say fatigue can cause memory fog or loss, and we will

deal with it if it is neurological. But for Bob, hes been taking

all this very hard. Anyway when we got home all me and Matt wanted

to do is climb in bed, and sleep and we did we napped from 1pm until

5pm. Well thats all for now will keep you posted, hope everyone has

a Happy New Years EVE and day!!!! Barb