Discussions By Condition: I cannot get a diagnosis.

Combination of rare conditions

Posted In: I cannot get a diagnosis. 3 Replies
  • Posted By: lishbug72
  • August 16, 2010
  • 01:22 AM

I have several rare conditions that (I feel) must point to a single syndrome or cause. However, my doctors can't figure it out. They include:
Complement C8 deficiency
neutropenia
Vitamin D deficiency
Severe nerve pain in arms & legs
Obstructive hydrocephalus
Hierschprung's Disease
Cone-Rod Dystrophy
Muscle twitching---new symptom



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3 Replies:

  • Hirschsprung's Disease can be associated with hydrocephalus, can also cause malnutrition ... The consequence is a lack of vitamin D, it will cause muscle twitching ... just my theory
    Anonymous 42789 Replies
    • August 16, 2010
    • 10:10 AM
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  • Thanks for replying...... I did not know that there was a correlation between Hirschprung's Disease and hydrocephalus. As far as I know, I'm the only person in my family with these disorders. I've been on prescription Vitamin D 50,000mg once per week for several months, but the muscle twitching persists. My latest lab work showed an extremely high rnp antibody results. I know that it points to an autoimmune problem, but which one???????? There are hundreds of them!~~~~~~~~~~~~~~~~Alisha
    lishbug72 2 Replies
    • August 17, 2010
    • 03:34 AM
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  • Perhaps that's here finally disease that explains everything, and I think it's Lupus. Motility disorders may be associated with lupus also neutropenia...
    Anonymous 42789 Replies
    • August 17, 2010
    • 09:51 AM
    • 0
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