Rare diseases

Rare disease is merely a name for all conditions that do not affect humans frequently. For example, flu is a common disease. A scleroderma is a rare disease. Dr Kushnir is a recognized expert diagnostician for rare and complex diseases. She was trained at the National Institutes of Health. There she learn from the World experts (such as Dr Fauci) to evaluate and analyze highest complexity medical cases of patients. She worked with the most unique and rare diseases. Now she consults people from all the States and internationally. You can request an online consultation if you do not live close to our clinic. Many patients come to our clinic from other states for a secondary opinion or diagnostic consultations. Here is how to prepare for the visit:
  1. When you can to schedule your visit, please discuss the special arrangements you will need (if more tests needed you may need to stay locally in the hotel).
  2. Time – for the complex out of state patients we a lot a 2.5 hour morning appointment starting at 9:30 am.
  3. Records and lab results. Please collect all previous records and laboratory work/imaging studies for Dr Kushnir to review during your appointment.
  4. Payment – please discuss with our manager if your insurance will cover costs.

Which conditions Dr Kushnir treats?

Here are few syndromes she became an expert for:
  1. Mastocytosis and mast cell activation disorders
  2. Neuroimmune disorders of serotonin metabolism
  3. Genetic immunodeficiency syndromes
  4. Lyme related chronic immune dysfunction
  5. Systemic inflammatory conditions
  6. Hyper IgE syndrome
  7. Ehlers Danlos syndrome
  8. Post-COVID syndrome

How do you diagnose a rare disease?

Tests we may do during your visit:
  • Pulmonary function test with or without challenge
  • Vaccine or medication challenge
  • Allergy skin test to foods and environmental allergens (2 separate panels – cannot be combined on the same day)
  • Patch test to conventional or individual components
  • Mast disease skin activation test
  • Laboratory tests – we do not collect blood or other samples, but Doctor will fill out forms for you to take to the lab or diagnostic center
  • Imaging studies. We will give you a test requisition for the nearest diagnostic center if a CT or MRI is needed.
Dr Kushnir will do her best to solve the puzzle of your conditions, but certain studies (such as bone marrow biopsy) are not available locally. She knows experts in the best medical centers, and will refer you for necessary studies and consultations if needed. Dr Kushnir can also refer you to NIH in Washington, DC, or to Stanford if you qualify for a research study or another expert opinion.

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posted by
NATALIYA KUSHNIR
Allergist and Immunologist, Integrative medicine