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Familial Dysautonomia (FD) is a rare, life-threatening, genetic, neurologic disease that attacks the autonomic nervous system. The autonomic nervous system controls the body functions that you do not have think about, but FD makes these automatic, essential functions work erratically. FD NOW is a non-proft organization that seeks to advance FD research. Ann Slaw, a lawyer, is the President of FD NOW, and a mom to a young adult with Familial Dysautonomia. As the President of FD NOW, Ann raises awareness for FD, and raises money to fund critical FD research at Fordham University in New York. We interviewed Ann to learn more about the science behind FD, what it’s like to have FD, and how research is helping us understand more about FD and how to treat it.
What is Familial Dysautonomia (FD)?
FD is an abbreviation for Familial Dysautonomia, a rare, life-threatening, genetic, neurologic disease present at birth. To best describe this disorder, consider the clues in its name. Familial means the condition is inherited. Dysautonomia (pronounced “dis-aw-tuh-noh-mee-uh”) means a dysfunction of the autonomic nervous system. The autonomic nervous system controls automatic body functions, such as breathing, digestion and circulation. People with FD have an impaired autonomic nervous system, rendering each breath, swallow and heartbeat undependable and erratic.
In addition to the detrimental effects of FD on the organs that involuntarily function (e.g., lungs, stomach and heart), FD also impairs a part of the sensory nervous system that controls pain and temperature. Thus, broken bones, burns and frostbite often go undetected.
How many people in the world have FD?
There are about 600 diagnosed cases in the world. There may be more with FD, but because it is such a rare condition, cases often go undetected.
What is it like to have FD?
Those with FD live in very unstable bodies. All their internal functions are unpredictable. They are prone to wide swings in blood pressure and heart rate, rapid decline of oxygenation and life-threatening autonomic crisis.
What are the symptoms of FD?
A newborn with FD is typically “floppy,” “skinny,” and may have difficulty sucking. A newborn may experience frequent aspiration pneumonia (pneumonia causes by misdirecting liquid into the lungs) and may require an “NG” tube (a tube threaded down the baby’s nostril into the stomach) for nutrition. Eventually, the baby’s formula may needs to be thickened substantially in order for the baby to swallow safely.
A toddler with FD has difficulty gaining weight and growing, and they tend to wobble and stumble, falling frequently. Their eyes are often dry which may lead to damage to the cornea. Many drool, and they may need to wear a terrycloth sweatband to wipe their chins dry. Most toddlers receive physical, occupational and speech therapy for developmental delays. The toddler may faint if laughing or crying or if he or she has been suddenly startled. Many parents find themselves dialing for emergency care only to watch their child regain consciousness and then go about playing as if nothing occurred.
Children and adults with FD have difficulty regulating their blood pressure, so they will often feel dizzy and may simply collapse when rising from bed or sitting in a chair. Due to the decrease in pain sensitivity, those with FD are unaware that they are hurt, so cuts, bruises, insect bites, broken bones, cracked teeth, and other forms of physical distress often go unnoticed.
Most alarming is the state of “autonomic crisis,” usually triggered by illness, intense stress or certain chemicals found in food or medication. During the autonomic crisis, FD sufferers will experience skyrocketing blood pressure and heart rate and they will endure uncontrollable and violent retching. These crises can last for hours, days, weeks or even months and often requires intensive care hospitalization
Additional indicators of FD include a smooth tongue which may decrease taste sensations, slow digestion, swings in body temperature, cold hands and feet, scoliosis (curved spine) and kyphosis (head thrusting forward and hanging low).
How severe are these symptoms?
Each of the telltale symptoms of FD ranges in severity from person to person. For example, some with FD go into autonomic crisis weekly, while others just a few times a year. Some with FD wear goggles and administer eye drops every hour, while others simply use eye gel nightly. Some require wheelchairs; others do not. Most with FD are short in stature, appear younger than their chronological age and are medically frail.
Has there been any progress to help kids with FD?
Yes. Progress has already been made in the Laboratory for Familial Dysautonomia Research at Fordham University by Drs. Berish Rubin and Sylvia Anderson, who discovered several natural compounds that help stabilize the nervous system. They have also created a nutritional regimen that eliminates foods that trigger crises. With additional funds, these researchers are positioned to accelerate the next breakthrough.
How do you get FD? Which genes are involved?
Familial Dysautonomia is caused by mutations in the IKBKAP gene. This mutation is more common in individuals who come from an Ashkenazi Jewish background. The condition is autosomal recessive.
When was the gene mutation for FD discovered?
In 2001, The Fordham Laboratory for Familial Dysautonomia Research submitted a paper demonstrating that Familial Dysautonomia is caused by mutations in the IKBKAP gene. This groundbreaking discovery meant that carrier testing and prenatal screening of the general population was now possible.
To read some of the scientific literature on the discovery of the IKBKAP gene and its connection with FD, click here.
What does FD NOW do?
FD NOW’s main focus is to fund the fast-track research at the Laboratory for Familial Dysautonomia Research at Fordham. In addition, we provide support to and advocacy for FD families and promote education and awareness to the medical community and public.
Tell us about your role at FD NOW.
I am the president of Familial Dysautonomia NOW Foundation (FD NOW). As a parent of a young adult with FD, I am uncomfortable using any of our donor dollars to draw a salary; thus, I volunteer my time which ranges between 20-80 hours/week depending on workload. As President of FD NOW, I have the challenge of raising $200,000-$300,000 a year to fund this critical research. Without this money, the research stops. I raise funds by spearheading appeals, managing events and writing grants.
Can other people get involved? Of course! We welcome volunteers.
Does your organization have a favorite mantra? Yes. “And if not now, when?” This mantra underscores our sense of urgency to help those with FD today.
Is FD preventable? Yes! Today, there is a simple blood test to determine if you are a carrier.
What keeps you energized? Celebrating the unwavering spirit of those dealing with FD and remembering the lives lost to this devastating disease.
Dana Simmons is a Ph.D. candidate in neurobiology at the University of Chicago. Follow Dana on Twitter @dhsimmons1.