Overview of visit to the Undiagnosed Diseases Program

This is an overview of our visit at the NIH. I’m still waiting on reports from some of these specialists. I will update it as they come in.

We were seen by the following;

• Genetic Counselor: Was a main team member and in charge of our stay
• Physician Assistant: Was a main team member and had to take charge when GC was sick
• Neonatologist: Was also a main team member
• Audiologist: Mild high-frequency hearing loss in at 8000 Hz
• Dentist: Has many baby teeth, a panorama view shows some impacted teeth
• Speech Pathologist: Has more abilities with her speech that she isn’t using, need behavioral plan to get her to use more words to verbalize sentences.
• Ophthalmologist: Questioned small optic nerve, waiting on report.
• Dermatologist: Leukonychia, may be consistent with Terry’s nails versus half and half nails.
• Physiatrist: Fitted for orthotics, about 3/4 lift on left.
• Physical Therapist: New exercises to stretch hamstrings.
• Genetic Counselor: Brought in to get more opinions on the case.
• Genetic Counselor: Family History
• Gastroenterologist: Misplaced rectum, waiting on report.
• Ear, Nose and Throat (ENT): Waiting on smell test
• Neurologist:
• Nutritionist:

Tests that were preformed

• Skeletal Survey: 23 views most normal
  Pelvis: Small exostosis (formation of new bone) left inferior pubic ramus.
  Skull : Overgrowth frontal teeth with impaction of multiple other teeth, pituitary fossa appears small
  Bone age: She is 12yr 8m, skeletal age between 10 and 11.
• Urine:
  Hemoglobin: +1
  Ketones: trace
  RBC: High 81 / Later normal
  Urea Nitrogen: High 1918
  Calcium: Low <1.25>
• Blood:
  Creatine: Slightly Low 0.53
  Albumin: Slightly High 4.4
  Magnesium: Slightly High 1.04
  Platelet: Low 157
  Monocytes: Slightly Low 4.5
• Ultrasound: All normal, spleen, liver, kidneys, pancreas, gall bladder
• Townes Brocks Syndrome
• Charge Syndrome
• Goldberg-Shprintzen Syndrome
• Treacher Collins Sydrome
• SNP Micro Array