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Familial Dysautonomia/ Riley-Day Syndrome
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Definition
Riley-Day Syndrome is a genetic disorder that affects the development and survival of certain nerve cells
Physical Characteristics
Scoliosis (curvature of the spine)
Skin and lips may appear bluish
Red blotches on the skin
Poor muscle tone
Familial Dysautonomia/ Riley-Day Syndrome
Treatment
Prevention
- No cure
- Treatment combats symptoms
- Feeding tube to stomach
- Eye drops
- Medicine
- Surgery
Symptoms
- No tears - episodes of intense vomiting - delayed development (walking/talking)
- poor sucking ability - frequent lung infections - poor stature
- blood pressure swings - trouble maintaining body temperature - reduced/immune to pain
- No prevention once attained
- prevention before patient born
- genetic testing
How to Help
Interesting Facts
Helping a Friend
- be supportive and understanding
- new medications
- surgeries (correcting scoliosis)
- Patients have a history of passing out because of holding their breath for long periods of time
- Children will be involved in emotional crying but will not have tears
- Ashkenazi Jews are extremely prone to many life threatening and rare genetic diseases like familial dysautonomia
Risk Factors
People Affected
- Ashkenazi Jews
- Requires both parents to have the gene
- Always marry within the community
- Inherited
- Being an Ashkenazi Jew
Helping Yourself
- seek professional help
- be prescribed to medication
- be scheduled for a surgery
Science
Statistics
- autonomic and sensory nervous system
Autonomic nervous system- involuntary actions
Sensory nervous system- related to senses
- survival and development of neurons affected
- lower neuronal population
- involuntary actions sporadic/dysfunctional
- senses diminished or eliminated
Around 1 in 30 Ashkenazi Jews carries the disorder
Around 1 in 3,800 Ashkenazi Jews actually has the disorder
Patients have a 50% chance of living to their 30s
90% of patients have a form of spinal curvature
40% will have dysautonomia crisis, a group of symptoms related to stress like vomiting and high blood pressure
Men and women have an equal chance of attaining the disorder
Resources to Help
http://www.mentalhealthamerica.net/types-mental-health-treatments
http:// www.uniteforsight.org/mental-health/module5
http://www.apa.org/helpcenter/improving-care.aspx
https://www.nimh.nih.gov/index.shtml
By: Garrett Page