Health

Health

Ocean with Pier

Some diagnosis are official and others are self diagnosed or suspected. This is due to the lack of access to appropriate medical care due to financial reasons, inability to find doctors that know anything about the conditions, and trauma caused by many medical professionals. Because of this I need to diagnose myself so I can take strategies to create the best quality of life possible for myself.

Diagnosis

Official (* = Rare Disease) (# = Genetic Link)

  • Anxiety
  • Bradycardia
  • Depression
  • Double Vision
  • Hypermobility#
  • Mild Cognitive Disorder
  • Periodic Paralysis*# (PP)
  • PTSD
  • Recurrent Meningitis*
  • Spinal Stenosis
  • Traumatic Brain Injuries (TBI)

Self Diagnosed (SD) & Suspected (Sus) (* = Rare Disease) (# = Genetic Link)


 Genetics

The following numbers are from specific reports related to periodic paralysis, and periodic paralysis like disease, as well as mitochondrial specific reports. I have reports from Whole Genome Testing that shows significantly more results than this, but is too much to go into at this point. Conditions listed in BOLD under the genes below have strong symptoms associated with them in my case.


Pathogenic

  • NOD2

    •  Inflammatory bowel disease 1, Blau syndrome, Yao syndrome (Dante Labs WGS)


Conflicting Interpretations

  • COL1A1

    •  Ehlers-Danlos syndrome, Infantile cortical hyperostosis (Dante Labs WGS)

  • DPAGT1

    •  Acute intermittent porphyria, Congenital disorder of glycosylation type 1J, Congenital myasthenic syndrome 13 (Dante Labs WGS)

  • PLOD1

    •  Ehlers-Danlos syndrome (Dante Labs WGS)


Uncertain Significance

  • COLQ

    •  Congenital Myasthenic Syndrome (Dante Labs WGS)

  • FASTKD2

    •  Hepatic failure (Dante Labs WGS)

  • GFPT1

    •  Congenital Myasthenic Syndrome (Dante Labs WGS)

  • KCNE3

    •  Brugada syndrome (Dante Labs WGS)

  • KCNJ2

    •  Andersen Tawil syndrome, short QT syndrome, Familial atrial fibrillation (Dante Labs WGS)

  • LRPPRC

    •  Leigh syndrome (Dante Labs WGS)

  • MT-CYB

    •  Mitochondrial complex III deficiency (GeneDx WES)

  • ZNF469

    •  Corneal fragility keratoglobus (Dante Labs WGS)

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