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Metabolic Testing

629 views 13 replies 5 participants last post by  cherylinbuffalo 
#1 ·
Hi...I am new here, and am trying to convince my daughter's neurologist to do metabolic testing, and am looking for advice as to how I might be able to convince them. She has many of the signs that metabolic testing should be done (I got them from this board mostly!). The neurologist was going to do the testing, but now decided to wait at least 6 months, and I really don't want to wait..... Any imput would be appreciated! (My biggest concern is that her head is not growing...and hasn't grown basically for the last 9 or 10 months....since she was 12 months old.)
 
#2 ·
my son has Mito, so we've done the testing. I don't see a reason why he wouldn't go ahead and do the blood work at least, but that won't give you an answer really. The skin and muscle biopsies are really the only way (aside from DNA testing, but you have to know what you're looking for to find it there) to get a solid answer. Blood labs can be totally normal and still have it, or be off for a different reason. But it would at least give you something to work with.

what are her other symptoms?
 
#3 ·
I think drs. hesitate because they don't know how to interpret the results, or don't know enough about metabolics to realize the child has risk factors, and/or don't understand enough about the testing to feel competent in even knowing what to order.

If you can find a doctor who will do the basic workup on the umdf site you can have a phone consult with a specialist. Dr. Parikh at Cleveland and Dr. Koenig in Texas do phone medical records reviews last I knew. If you find someone who will cooperate get the blood and urine labs listed on that site. Get them after her longest typical "going without food" period--whatever is safe for her fasting wise; we did over-night fast but my son was older.

Alternatively, travel to one of those specialists for your initial labs. That's what we ended up having to do-we went to Cleveland. After that we could follow up here because suddenly drs. took me seriously as his initial labs were abnormal.

Skin biopsy was our definitive test (we declined muscle as we knew what we need to know through skin) but the initial labs were telling for us as well.
 
#10 ·
My daughter had a normal EEG, so they admitted her to the hospital for a 5 day study..where she was hooked up and video monitored the whole time. She had two episodes while there...one that looked like a typical absence seizure....starring, no response to snapping fingers in front of her face, etc. that lasted about a minute......and then one where she collapsed to her side (strapped in high chair at the time) and was hanging over the side of the high chair and non-responsive for almost 5 minutes. They are both on video, and the technicians at the hospital said they showed seizure activity, but the doctor in charge of the unit said he saw no seizure activity for either one. ...rather frustrating....
 
#13 ·
How aggravating. I mean, I would certainly want to know, and I'm sure you do, too, "if it wasn't a seizure during these episodes, what did happen on the tape that made other professionals think it was seizure activity?" It seems likely that the brainwaves changed in some way during these episodes or no one would have suggested seizure. So what sort of non-seizure did she have? I mean, if you hurt your leg and get an xray, you don't want to just hear "it's not broken" but would like to know if it's a sprain or an infection, if it could be either, if it couldn't be either, if they have no clue, etc.

Have you seen a geneticist? Any other possibly related specialists you could get your DD's ped. to refer you to? Sometimes it's best to see as many as possible in hopes of getting someone who will pursue a cause and refer/communicate more passionately.

I'm sorry it's so hard.

Sherri
 
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