Here is a list of information that we are including in the natural history study. If you are visiting a doctor, we are interested in having that information so that we can track common complications and changes that occur in patients with FD overtime.

Neurological:

• Brief ataxia rating scale: A short survey to be filled by a neurologist that rates your walking and coordination. https://www.ncbi.nlm.nih.gov/pubmed/19562773
• UPSIT Smell Identification Test: A 40-point scratch and sniff booklet that asks you to identify common smells
• Brain MRI Images: Radiographic images of the brain collected with any imaging protocol, with or without contrast.

 Cardiovascular:

• Autonomic Testing: A report you receive after having your blood pressure and heart rate monitored while you are on a tilting table.
• 24-hour blood pressure recordings: Readings of blood pressure and heart rate collected with a portable machine over a typical day and night.
• EKG (electrocardiogram): Short term or long-term recordings that monitor electrical conductance of the heart.
• Echocardiograms: Ultrasound scans that show the structure of the heart.

Respiratory:

• Swallow Study: Images that show you swallowing liquids and solids of different consistency and the accompanying report describing how well you swallow.
• Sleep studies: Overnight monitoring that monitors the electrical activity of the brain together with breathing.
• Arterial blood gases: Measurement of the concentration of oxygen, carbon dioxide, and acid-base balance performed on a sample of arterial blood.
• Chest x-ray: Images of your chest obtained during a standard x-ray with the accompanying report.
• Chest CT scan: Images of your chest obtained with coherence tomography with the accompanying report.
• Pulmonary function tests: Standardized tests that measure the capacity of breathing with spirometry, plethysmography or impulse oscillometry.
• Bronchoscopy: A test performed under sedation that images the airways and samples the microbes.

Gastrointestinal:

• Endoscopies: A test performed under sedation that images the upper GI tract and samples the microbes.
• Manometry or esophagrams: Other tests that measure the motility of the GI tract

 Eyes:

• Optical Coherence Tomography Scans: High definition scans of the retina that measure the thickness of the nerves in the eye.
• Visual acuity: A test rating your ability to see and read letters on a chart.
• Colour discrimination: A test using different coloured plates that rates your ability to see colors.
• Corneal esthesiometry: A test in which a fine fiber of different thickness is placed against your eye to induce blinking.
• Corneal opacity grading: A test that rates the clearness of your corneas and whether they have scars or cloudiness.
• Shrimer test: A small strip of paper placed in the eye that measures your tear production

 Blood Tests:

• Complete blood count: Levels of your red and white blood cells
• Comprehensive metabolic panel: Levels of the chemicals that monitor how well your organs are functioning.
• C-Reactive Protein/Sedimentation Rate: Makers of inflammation

Other tests/images/reports:

• EOS Scans of the Spine: Images of the spine taken when you are standing.
• Dental x-rays: Images that the dentist may take of your teeth and jaw.
• Surgical admissions: Notes from hospital admissions where you needed emergency or elective surgery.
• Hospital admissions: Notes from any hospital in-patient admissions.

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What happens to my information? Relevant information will be taken from your clinical tests and reports and stored in our database, which is specific for this project. Your information will be stored without your name or identifying information.

 How can I stay up to date with the Natural History Study’s progress? Subscribe to our blog (www.dysautonomiacenter.com) or to the Familial Dysautonomia Foundation’s email blasts to receive the latest information about the project and its milestones.