HI, I am new to this sight and am wondering if anyone can help. My youngest daughter, Abigail, is 20 months old and she has many diagnoses. All of which appear to be symptoms of a single diagnoses. She seems only moderately affected in each area regarding her symptoms so it is not blaringly obvious to the doctors as to what is wrong with her.
Diagnoses so far (in order of discovery) are as follows:
Generalized Hypotonia (muscle weakness, mainly on left side) (wears SMO's on feet to correct turning in and help aid in ankle strength. Just started walking at 17 months old.)
Dysmorphic facial features with frontal blossoming (big forehead) and small wideset sunken eyes, large, thick upper lip, ears have long lobes.(she doesn't look like and alien to me, just a typical kid. I think the most obvious is her bubble forehead).
moderately large farsightedness and intermitant strabismus due to overfocusing (being corrected with glasses, yet again, the left side is weaker than right, and it is her left eye with the turning in and same eye has a much stronger lense).
17 degree levoscoliosis in the thoracic area (scoliosis turning to the left...again)
microcephaly (smaller than normal head size, but MRI shows normal brain)
Moderate hearing loss (poor ABR but passed OAE ? Is getting hearing aids next week.)
Non verbal (due to hearing loss?)
Tests that have been done so far are:
MRI of brain, normal
MRI of spine, normal
sedated ABR, moderate hearing loss sensorinueral kind
swallow study, normal
Chromosome testing, basic kind, testing for the obvious, normal
CMV test to see if she had Cytomegolovirus, mormal
Blood work, showed elevated platelet count whenshe was not sick, also showed lower creatinine levels than normal, and BUN/creatinine ratio abnormal
Based on blood work a doctor suggested having kidneys checked but my daighter did not provide enough urine, so could not be tested (?)
Symptoms I see on my own:
hearing seems to fluctuate, some days will respond to name, other days will not.
Doctor Jeckyl/Hyde type personality, happy, then extreme fussiness, possibly because she cannot communicate.
She is intelligent and stubborn
Possible seizures? Sudden staring vacantly for a few seconds and then back to normal. Also one eye may blink and the other does not. Not a wink, but for several blinks in a row.
possible acid reflux, gurgling sound after drinking.
Always thirsty, and loves to eat. Crams food in mouth to point of choking.
Muscle tone seems to fluctuate as does sensory issues
I personally think she has a Mild form of Hemiplegic CP, her trunk muscle is stronger on the right, which pulls her spine, causing it to curve to the left, and every symptom she has is found in CP. When she was born her cord was around her neck X's 2 and tight, she had a little bit of trouble eating after birht and was tube fed some, and threw up alot, but then was fine.
Sorry to make my post so long, just wanted to get it all out there as I have noticed alot of people wind up having to answer a lot of questions because they do not give enough info.
The doctors are hesitant to diagnose CP and we are playing a waiting game. It seems like each time I take her to the doctor, we discover something new. She is in an early intervention program and does physical, occupational, speach therapy each week, and training for her hearing will be added soon.
Thank you so much for any help that can be given.
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