Discussions By Condition: I cannot get a diagnosis.

Please Help me help my children

Posted In: I cannot get a diagnosis. 3 Replies
  • Posted By: Anonymous
  • May 29, 2009
  • 06:49 AM

Here is a random list of symptoms of all of us. My son is now not growing again and my daughters platellet counts are dropping even though she is on a super restricted diet. My son has been to many doctors. NO one knows. YEt i just know there is something and i can help him succeed in life instead of his constant struggle. he is now short for is age when he was a baby he was very tall till he started solid food. I am writting anything i can think of. IT may or may not relate

My sons symptoms:

developmental delays
autistic features
absent reflexes in legs
mild clubbed fingers
gastro issues-dhiarea since birth
short stature
psychiatric disturbances
overly flexible
learning disabilities
dr jekyl and mr hyde mood swings
muscle pain
hard to gain weight
easily fatigued
jelly like bowel
stomach pain
sensory integration disorder

has had:

severe microcytotic anemia
left sided weakness intermittent
hepatitis one time
easily ill
pneumonia many times
blue area around the lips at times as infant
did not feel pain correctly
failure to thrive
recurrent sinus infections-adnoids and tonsils removed
sleep apnea

my daughters symptoms:
dysautonomia temperature instability
food allergies-multiple
unexplained vomiting
Skin sloughing
painful clear blisters
bruises easily
low platellets
jelly like bowel
very stinky bowel
very bad stomach cramps and belly pain

Mothers issues:

Small lower jaw had corrected
low blood pressure-better since having children
bowel issues: jelly like bowel at times, yellow oil in bowel at times,sweating and dizziness at times when using restroom,very high fissures, bleeding , bloating, pain, urgency, constipation, does not move food well, slow digestive track, not hungry often, never feels like i can empty bowel all the way, very gassy
thyroid disease
joint issues
muscle pain/neuropathic pain- have had back surgery now still pain
hypoglycemia have off and on
pancreatitic attack once
dislocate joints easily as a child-shoulderrs knees etc
bright light intolerance getting worse with age
ankles swell
periods of severe thirst that cannot be stopped no matter how much you drink
craves protein constantly
has weird boughts with severe dizziness
pos ANA
always dumps protein in urine
odd chest pain comes and goes

My son has some very odd natural food intolerances they have gotten a little better since being a baby. He use to not eat anything white at all. NOt even ice cream. He would not eat bread, does not like to drink milk (refused as a infant),does not like high fatty meats like beef. He does not like cake etc. He prefers fish and salad and fruit to eat if left to him. He does not like anything in high fat like sauces. My son also was a large baby child until we started introducing solid food.

I NEED DR HOUSE UGGG Please help my son is now going to be in specil ed next year a he is still falling further behind in school

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3 Replies:

  • Have they been tested for cystic fibrosis (this can cause clubbed fingers, poor weight gain, awful smelling oily bowel movements and pneumonia), celiac disease, shwachman diamond syndrome, or fanconi anemia?
    Anonymous 42789 Replies Flag this Response
  • This is a jump... but I would suggest looking into Hajdu-Cheney Syndrome. Check out this website: http://hajdu-cheney.com/ But also check out the references available at the Geneticand Rare Diseases Information Center. Perhaps they could help guide you in your search. http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6562 Good Luck!
    gr8tful 175 Replies Flag this Response
  • I hope you can find someone who is really willing to help you. I have beeb going through many issues and have gone as far as to go out of state to Mayo Clinic in AZ and still no answers They all just try to make you feel like you are going crazy. I wish i could say something better vut my best advise is to just be strong and not give up Jenn
    Anonymous 1 Replies
    • January 23, 2014
    • 07:56 AM
    • 0
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