Fatal Familial Insomnia

Imagine not being able to sleep. I’m sure some of you have experienced a few sleepless nights; maybe it was after the death of a loved one, or the night before a huge exam. But have you ever gone an entire year without a decent night’s sleep? For a small number of families around the world, this is their reality.

Fatal Familial Insomnia, better known as FFI, is a genetic disorder. If a single parent has the gene, the child has a 50% chance of receiving the gene, because it is dominant. There is a very simple blood test that can be done to determine if a child has inherited the disease although some people opt out of knowing. But why wouldn’t these people want to know if they inherited the gene which will inevitably bring them sleepless nights? This is because FFI not only brings a guarantee of sleepless nights, but a guaranteed death sentence within a year after the symptoms begin. Some people don’t want to live, knowing that they will die a tragic death in their 50’s. Others want to know, so they can prepare not only themselves but their families as well.

There are several different stages of FFI, each stage bringing the patient closer to death. A patient will usually begin the first stage anywhere between the ages of 30 to 60. Although the patient usually survives less than a year after they begin to notice their symptoms, it can last anywhere from 7 to 18 months. During the first stage a patient will begin to experience insomnia leading to panic attacks and new phobias. This stage lasts about 4 months. During the 2nd stage, the patient experiences hallucinations and increased panic attacks. This lasts about 5 months. During the 3rd stage, the patient loses all ability to sleep resulting in weight loss. This lasts about 3 months. During stage for, the last stage of the disease, the patient develops dementia and eventually becomes unresponsive. This usually lasts for 6 months. At this point, the patient dies, literally, from no sleep. What makes this different than other diseases is that, while the patient is dying, they are fully aware of what is happening to them, even if they are for the most part unresponsive. It seems like a terrible way to die and part of me understands why a person would not want to know whether they had the gene or not.

There are no known cures or even treatments for the disease. Gene therapy has been unsuccessful and sleeping pills seem to only speed up the process of insomnia. Out of all the diseases I have come across throughout my life, I definitely think this is the worst one. If you have cancer, it is tough no doubt, but at least there is hope for survival. With just about any other disease, there is always the hope for survival. With FFI, patients have no hope, once the symptoms begin, death is inevitable. If I found out I had a parent with the disease, I would definitely want the blood test to find out if I had it. It would have a huge effect on how I lived the rest of my life. For one thing, I would never have children because that would not be something I would want to give to them. I wouldn’t save for retirement either because chances are I would never reach that point in my life. Overall, studying this disease has made me realize how lucky I am to be healthy.

This is a little irrelevant to my post, but I just wanted to point out that in cases like these, designer babies, as they are called, might be appropriate. If a FFI patient was young and wanted to have her/his own child, but they didn’t want to pass the gene on, they could make sure the baby didn’t have the gene before it is taken to a long term pregnancy.

Here is a link to a family I researched to help me better understand the disease. This Italian family has had FFI as far back as they can remember. Unlike most diseases, it hasn't been eradicated from the family because women with the disease don't die until later on in life. Leaving plenty of time for them to reproduce and pass it on.