Discussions By Condition: I cannot get a diagnosis.

I need to know what is wrong with my daughter

Posted In: I cannot get a diagnosis. 4 Replies
  • Posted By: abigailsmom
  • February 10, 2008
  • 07:08 AM

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).
Developmental delay
speach delay
growth delay
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?)
Low registration

Tests that have been done so far are:
MRI of brain, normal
MRI of spine, normal
sedated ABR, moderate hearing loss sensorinueral kind
OAE, normal
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.
Elizabeth

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4 Replies:

  • I am so sorry your daughter is ill. My heart goes out to you. This has to be quite difficult for you.I do not know what your daughter has, but this is how I might approach the situation if I were in your shoes:Please keep a running list of all of her symptoms (kind of like what you did here) and bring this with you to any doctor she visits. Try to keep it succinct, maybe just one or two pages so they can see in a nutshell the wide array of symptoms. Do you live near a teaching hospital? There are entire textbooks that describe various dysmorphic facial and other body features and state which congenital disorders they are associated with. Her features might be what help your doctors zero in on a diagnosis- which will lead to prognosis and perhaps treatment modalities. It might be worthwhile looking for such a text at a medical center library or even bookstore. Or perhaps investing in one for yourself. I haven't looked into it, but there may even be websites that help with these sorts of diagnoses. I know there are web sites for rare diseases in children, but don't know how helpful they might be in your particular case.Has she been to a geneticist or other specialist? They may be able to diagnose her correctly.It sounds like if she has prominent facial features, then she might have something other than cerebral palsy- perhaps a congenital disorder. It's also possible for her to have something congenital AND CP, though.It sounds like she has a whole team working with her to optimize her development. This is a good thing.I hope you have some kind of support for yourself. This must be very hard to deal with.I don't know if you are spiritual at all or what religion, but after I was diagnosed with my illness (Hashimoto's Encephalopathy) last April, I eventually found a Christian website called Joni and Friends (http://www.joniandfriends.org) that has helped me cope. They also offer family retreats for parents with ill children.I don't know if any of this will be helpful at all.I hope you get answers soon.Best Wishes.
    Anonymous 42789 Replies
    • February 10, 2008
    • 07:31 AM
    • 0
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  • believe it or not, your local school district can provide services from birth to age 22 by Federal law...you only need to contact them and they should send someone out to provide speech services and possible OT...the first poster gave some nice medical advice...
    Monsterlove 2921 Replies
    • February 10, 2008
    • 08:25 AM
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  • Have you seen a geneticist? This sounds very much like a genetic issue, and an expert should be involved.
    aquila 1263 Replies
    • February 11, 2008
    • 03:47 PM
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  • Thanks for comments. Yes I have taken her to genetics DR. Did basic chromosome alalysis, etc. All "appeared" normal. Dr won't test for specific things until more symptoms develop. Also had her tested for CMV, cytomegolovirus, which was negetive. Thanks, though.:o
    abigailsmom 3 Replies
    • February 12, 2008
    • 02:07 AM
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