Riley-Day Syndrome, also known as Familial Dysautonomia, is medically characterized as; “one of a group of disorders known as hereditary sensory and autonomic neuropathies”. Another condition in this category is Morvan's Disease, and thankfully both these, and the other conditions in this family, are rare across the world. In fact Riley-Day Syndrome is thought to afflict only six hundred people worldwide, and just about all of these are of Eastern European Jewish (Ashkenazi) ancestry. Both Riley-Day Syndrome and Morvan’s Disease were named after the scientists who first characterized the conditions, and one must wonder if having a debilitating medical condition named after you is something to celebrate? I suppose if we name prisons and asylums after people, then why not a disease?
The term “familial” in the description of this condition gives away the fact that Riley-Day Syndrome is inherited from a sufferer’s parents; in fact both parents must carry the relevant gene (which goes by the obtuse name of the IKBKAP gene on chromosome 9) for their offspring to risk inheritance of the condition. Even then it seems to be a bit of a genetic lottery, with just 25% or one in four children of affected parents, contracting the disease.Credit: By en:User:Cburnett (Own work in Inkscape) [GFDL (http://www.gnu.org/copyleft/fdl.html) or CC-BY-SA-3.0 (http://creativecommons.org/licenses/by-sa/3.0/)], via Wikimedia Commons
So just what does having Riley-Day Syndrome mean for a person? Well, the symptoms are many and varied and even make themselves known to the mother in childbirth! A very high percentage of Riley-Day Syndrome babies present as breech births, leading to difficult deliveries and an overrepresentation of caesarian sections. In the babies first year the parents may well notice some particular symptoms affecting their infant. An absence of tears during crying, difficulty suckling on both breast and bottle, and a painless but distinct red blotching of the skin are all markers to Riley-Day Syndrome.
As a patient grows, a myriad of other worrisome symptoms develop including;
- Breath holding spells – sometimes leading to a loss of consciousness
- Decrease in sense of taste
- Inability to feel pain and changes in temperature
- Long periods of vomiting
- Poor coordination and unsteady walk
- Poor growth
- Repeated fevers
- Repeated pneumonia
- Sweating while eating
- An unusually smooth, pale tongue surface
All this seems like a very heavy burden for a person to carry, and just to make it worse, 50% of patients fail to survive to their thirtieth birthday, typically falling victim to a lethal bout of pneumonia. Currently there is no cure for this condition, with symptomatic treatment being the only relief for patients. On a positive note there are two medical centers currently treating Riley-Day Syndrome patients - New York University Hospital and the Hadassah Hospital in Israel.
Over the past three decades the incidence of Riley-Day Syndrome has been decreasing, and this has much to do with advances in genetic DNA testing. Fortunately (or not so fortunately, depending on your stance on fetal genetic tests) researchers have developed a very accurate prenatal test for Riley-Day Syndrome, and parents who carry the gene are urged to undertake it. This has led to diagnosis of the condition in the early stage fetus, with the resultant decision by a significant number of parents to terminate the pregnancy.