Familial Dysautonomia

Familial dysautonomia (FD) is a rare genetic disease that affects the autonomic and sensory nervous systems of children from birth. The most striking symptoms of FD are reduced sensitivity to pain and temperature, and the inability to produce tears. But FD is much more than “no pain and no tears,” it affects every major system of the body, causing severe respiratory, cardiovascular, orthopedic, digestive, renal and vision problems.

Children with FD lack the most basic reflexes and instincts that we take for granted. As a result, their bodies cannot function normally. They cannot control their blood pressure or heart rate, and they lack the ability to suck at birth and the ability to swallow properly. Because they often swallow into their lungs rather than their stomachs, they are prone to pneumonia.  As a result, most FD patients have a feeding tube, so they can be fed directly into their stomachs and reduce the risk of pneumonia.

For additional information, please visit The Dysautonomia Foundation website: http://www.familialdysautonomia.org/

Moebius Syndrome

Moebius syndrome is a rare neurological disorder that is present at birth.  It primarily affects the 6th and 7th cranial nerves, leaving those with the condition unable to move their faces (they can’t smile, frown, suck, grimace or blink their eyes) and unable to move their eyes laterally.

Other cranial nerves may be affected, especially the 3rd, 4th, 5th, 9th, 10th and 12th.  There may be skeletal involvement causing hand/feet anomalies and/or club feet. Respiratory problems, speech and swallowing disorders, visual impairments, sensory integration dysfunction, sleep disorders, and weak upper body strength may also be present.  Approximately 30% of children with Moebius syndrome are on the autism spectrum.

For more information, please visit the Moebius Syndrome Foundation website: http://www.moebiussyndrome.com

 

Albinism

Albinism is a recessive genetic condition that causes the absence or reduction of pigmentation in the hair, skin and eyes.

For more information, please visit website for the National Organization for Albinism and Hypopigmentation: www.albinism.org

 

Marfan Syndrome

Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.

Marfan syndrome can affect many different parts of the body, as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening.

For more information about Marfan syndrome, please visit the Marfan Foundation’s website: www.marfan.org

This film was made in collaboration with Audrey Fan, MS, CGC, Caroline Lieber, MS, CGC, Jessica Martineau, MS, CGC and Katherine Stoate, MS, CGC.