help with diagnosis...

[shortcake2386]

im not great with google we've known something is up with dd, 3 months, for a bit. her ped blows me off and between the neuro, GI, feeding specialists there isnt great communication.
symptoms:
seizures, under control, mostly, with kepra. they are small and i still notice 1-2/week.
feeding issues, cant suck. also has high palate and small jaw. did try to suck before seizures but does not anymore.
low muscle tone
reflux and aspirates
has to be overstimulated, the louder/brighter it is the happier she is. if its calm/quiet she will scream.
doesnt sleep well during the day, finally passes out and dozes for a few minutes at a time. sleeps 4-6 hours at night.
sweaty feet like always. even if its cool
she is behind developmentally but im pretty sure its bc she didnt get enough to eat for the first 6 weeks bc no one caught on to the sucking issues. ste just started opening her hands from fists in the last week.
any ideas? we should have all the metabolic test results back next week...

[mibarra]

Is metabolic the same as genetic? I would consider genetic testing for syndromes/abnormalities. I would also get an OT eval due to stimulation and sleeping issues.

[shortcake2386]

Originally Posted by mibarra Is metabolic the same as genetic? I would consider genetic testing for syndromes/abnormalities. I would also get an OT eval due to stimulation and sleeping issues.

OT/ST are on friday for feeding issues. ill mention those too. the only time she napped today was in her bouncy seat while the other 3 literally ran around screaming. while her music was turned all the way up. she woke up when the kids sat down to watch a movie lol.
im not sure on the metabolic/genetic? i know they tested for mitochondrial also though.

[mekat]

Has she been checked by an opthamologist and audiologist? I don't want to hear how great her newborn screening is, I want to know if a qualified specialist has double checked everything because the sensory seeking could be because she has low vision and/or is hard of hearing.

Nobody who has ever interacted with my son from infancy on wards would ever guess his vision is so bad he qualifies for federal blind/low vision programs. He does sensory seek because his normal visual input isn't significant. He will stare directly into very bright lights to get input.

I would think her having seizures of an unknown origin will qualify her for opthamology consult automatically because brain damage and brain malformations go hand and hand with significant eye problems. As far as I am aware most insurance companies will cover audiology exams for children with very little fuss.

Also have you talked to her neuro about the side effects with Kepra? Some of the seizure meds can turn kids into zombies and have severe side effects. It might be helpful to know the side effects so you know what is developmental and what is an unfortunate side effect of the drug.

Genetic consult is a good idea but be prepared to wait a long time for answers and also know some may never get an answer. I don't know a great deal about Mito disorders but I do know they are significantly hard to test for and that most geneticists don't run the full panel because very few hospitals are qualified to run those tests. Even if the tests come back negative, you may want to research and make sure it was fully ruled out by the tests that were run.

If she were my daughter my primary concern would be doing further testing on her hearing and vision just to make sure she isn't sensory seeking due to a physical reason.

[shortcake2386]

Originally Posted by mekat Has she been checked by an opthamologist and audiologist? I don't want to hear how great her newborn screening is, I want to know if a qualified specialist has double checked everything because the sensory seeking could be because she has low vision and/or is hard of hearing. Nobody who has ever interacted with my son from infancy on wards would ever guess his vision is so bad he qualifies for federal blind/low vision programs. He does sensory seek because his normal visual input isn't significant. He will stare directly into very bright lights to get input. I would think her having seizures of an unknown origin will qualify her for opthamology consult automatically because brain damage and brain malformations go hand and hand with significant eye problems. As far as I am aware most insurance companies will cover audiology exams for children with very little fuss. Also have you talked to her neuro about the side effects with Kepra? Some of the seizure meds can turn kids into zombies and have severe side effects. It might be helpful to know the side effects so you know what is developmental and what is an unfortunate side effect of the drug. Genetic consult is a good idea but be prepared to wait a long time for answers and also know some may never get an answer. I don't know a great deal about Mito disorders but I do know they are significantly hard to test for and that most geneticists don't run the full panel because very few hospitals are qualified to run those tests. Even if the tests come back negative, you may want to research and make sure it was fully ruled out by the tests that were run. If she were my daughter my primary concern would be doing further testing on her hearing and vision just to make sure she isn't sensory seeking due to a physical reason.

good info thanks. she did fail her nb screening but passed at 6 weeks...but for the first 2 months did not respond to loud noises at all. we were concerned but she passed and started having seizures so we havent really discussed it since. she is on the lowest dose of kepra and we were told the only side effect was irritability. but ill ask again monday.