As most of you probably already know, a genetic disease is a disease that’s passed down from your mother or father. Some are found only in certain demographics and populations such as Sickle Cell Anemia being more common among people of African descent and Tay Sachs being more common among people of the Ashkenazi Jewish population. Some are found only among one race, and some are very rare. One gender specific, rare genetic disease is Lesch-Nyhan Syndrome. Many of you have probably never heard of it. Despite being a very serious disease, many do not know about it. Some may know about it, especially if you are a fan of pieces written by Richard Preston, the author of The Hot Zone. I have read a book called Panic in Level Four by him, and it was simply fantastic. The words ran so smoothly, and it kept my attention the entire way through. I am not usually a huge fan of non-fiction, but I really loved this book.

Lesch -Nyhan Syndrome occurs mostly in males because it is passed down through families and inherited in an X linked recessive pattern. This means that the mother is always a carrier and that females cannot get the disease because the affected gene is located on the X chromosome. In order to get the disease all of your X chromosomes need to have the affected gene, and it is very unlikely that both of the females X chromosomes will be affected. Males get it because they only have one X chromosome.

The major factors in Lesch- Nyhan Disease are the over production of uric acid and nervous system and behavioral disturbances. Uric acid is a waste product produced by the kidneys went they filter out unneeded stuff. It is found in the blood and urine. If there is an excess amount of uric acid released from the blood it can build up under the skin and cause gouty arthritis, which is the first major sign of Lesch- Nyhan syndrome. Gouty arthritis is arthritis, or pain in the joints, caused by an accumulation of uric acid in the joints. It can be very painful for those that have it. The other major sign of Lesch- Nyhan Syndrome is nervous system and behavior problems. More often than not, those with Lesch- Nyhan Syndrome have uncontrollable tension of muscles, jerking movements, and flailing limbs.

They also have been known to bite their own lips, chew off finger tips, and hit themselves. Another behavioral disturbance is self-sabotaging. This is described by Richard Preston as saying highly offensive things you do not wish to say. Those with Lesch- Nyhan syndrome are actually very sweet. They do not wish to hurt themselves or others, but their disease sort of takes over.

There is treatment for Lesch- Nyhan Syndrome but no known cure. The gouty arthritis can be treated with allopurinol to lower the uric acid levels. The neurological and behavioral disturbances can be treated with various benzodiazepine, or drugs to treat anxiety. One that is commonly used is diazepam, also known as Valium. Most people with Lesch-Nyhan Syndrome require walking assistance or wheelchairs because they lose the ability to talk as they grow. They often use wrist restraints so they cannot bite their hands or hit themselves. When they urge to self-harm comes over them they will scream out in fear. They really do not want to hurt themselves and will request to have their wrists restrained.

This disease was actually treated once before. In 2000, deep- brain stimulation was used on a Lesch- Nyhan patient. This occurred in Tokyo, Japan and was performed by a neurosurgeon. Afterward his nervous system and behavioral disturbances stopped. Scientists do not know why deep-brain stimulation, a treatment originally developed for Parkinson’s disease patient, works with some Lesch-Nyhan patients. They are not sure if it will work with all Lesch-Nyhan patients, but this means that there is a possibility for a cure or better treatment in the future.

If you want to learn more about this fascinating disease please pick up Panic in Level Four by Richard Preston. If you like some non-fiction you will not be disappointed. The book also discusses many more interested articles, which were all published in The New Yorker. You can visit many websites and organizations as well. Try visiting the website, Love Never Sink, which is a support group. You can also watch a multitude of videos and documentaries about Lesch-Nyhan Syndrome and the families living with it.

Love Never Sinks