Have you ever heard of this 'Prion Disease'? Maybe this name is a little new to you. The reason is that this is a group of diseases that are very rare in the world. However, it is very important to be aware of this disease, as it directly affects our brain and the symptoms become severe very quickly. It can occur in humans as well as animals.
What is Prion Disease?
Simply put, prion diseases are a group of diseases caused by a normal protein in our brain that mutates abnormally into harmful proteins called ``prions.'' Imagine a good cell in our body suddenly turning into a bad, mutated cell.
When these abnormal prion proteins accumulate in the brain, they begin to damage brain cells. To be precise, this is a neurodegenerative disease . Over time, this damage can lead to a gradual decline in brain function, leading to conditions like dementia . This means that you lose your memory, have difficulty thinking, and are unable to do your job. The most dangerous thing about this disease is that these symptoms start suddenly and progress very quickly. This disease affects about one in a million people worldwide. This means it is very rare.
Prion diseases are unfortunately fatal diseases . This means that once the disease develops, it is difficult to cure. Doctors try to control the symptoms and make the patient as comfortable as possible. They also help the patient cope with the impact of the disease on their life, their family, and those who care for them.
How do these prion diseases develop?
There are three main ways a person can develop a prion disease.
1. By inheriting a genetic mutation (this is called familial prion disease).
2. By infection (this is called acquired prion disease).
3. However, most of the time, this disease occurs without any genetic cause or external infection . Researchers and doctors call this 'sporadic prion disease'.
Now let's look at each of these methods in a little more detail.
Sporadic Prion Diseases
This is the most common form of prion disease. What happens here is that, for no apparent reason, normal proteins in the brain suddenly turn into the aforementioned bad 'prions.' The exact reason why this happens is still unknown.
The main diseases that belong to this category are:
- Creutzfeldt-Jakob disease (CJD) : This accounts for 85% of sporadic prion diseases. It is the most common type.
- Sporadic fatal insomnia : This is very rare. Even rarer than hereditary fatal insomnia.
- Variable protease-sensitive prionopathy : This is also an extremely rare sporadic prion disease.
Familial Prion Diseases
This type of prion disease is caused by a mutation in a gene called `PRNP` in our genes. The disease can occur whether the mutation is inherited from either the mother or the father (this is called `autosomal dominant inheritance`). More than 50 different mutations in the `PRNP` gene have been identified, and each mutation can cause different types of hereditary prion disease.
Some diseases that belong to this category:
- Familial Creutzfeldt-Jakob disease (CJD)
- Gerstmann-Sträussler-Scheinker (GSS) syndrome : This is very, very rare. It occurs in one to ten people in 100 million people worldwide.
- Fatal familial insomnia : This is even rarer than GSS syndrome. Only 50 to 70 families worldwide carry the genetic mutation that causes this disease.
- Other prion diseases caused by mutations in the PRNP gene have also been reported. For example, 11 members of a British family developed symptoms such as diarrhea, sensory autonomic neuropathy, seizures, and dementia. This condition, called autonomic neuropathy, affects things like your blood pressure, heart rate, and bowel and urinary incontinence.
Acquired Prion Disease
This is the least common way to get prion diseases. Here, a person can get the disease by eating food contaminated with prions (for example, meat from a cow with 'mad cow disease') or by using contaminated medical equipment (for example, during surgery).
- Kuru is the first case of this type of infectious neurodegenerative disease to be identified and studied. It was found among the Fore people of Papua New Guinea. It is believed to have been spread through some of their rituals (such as eating human flesh).
Fortunately, today's strict cleaning methods for medical equipment and attention to food safety have greatly reduced the spread of prion diseases in this way.
What is the most dangerous of prion diseases?
In fact, all prion diseases are fatal . That is, if you contract the disease, you will definitely die. Typically, the patient dies within a few months to three years after the onset of symptoms of a prion disease.
What are the symptoms of prion diseases?
The symptoms of prion disease can vary, depending on the type of prion disease and which part of the brain is affected. But in general, people with prion diseases develop problems with their nervous system that gradually become worse.
These are some of the most common symptoms:
- Difficulty walking, staggering (`Ataxia`)
- Difficulty speaking, slurring of words (`Aphasia`)
- Confusion, disorientation
- Insomnia
- Memory loss, difficulty thinking and making decisions
- Slow movements or muscle stiffness (`Hypokinetic movement disorders`)
- Sudden jerking, shaking (`Myoclonus`)
- Personality changes (e.g., becoming irritable, agitated)
- Mental problems (e.g. anxiety, depression, and sometimes even visual hallucinations)
Imagine, someone very close to you suddenly starts to change. He forgets things, he can't talk the way he used to, he has difficulty walking. How distressing is it to see these symptoms?
What are the complications of prion diseases?
The complications of prion diseases can be linked to one another, creating a cascade of complications that can have a profound impact not only on the patient, but also on the family and friends who care for them.
These complications can occur within a few months or a year after symptoms begin:
- Inability to do one's own work
- Dementia ( almost complete loss of memory)
- Inability to speak (`Mutism`)
- Coma (this is the final stage)
When someone has a prion disease, they quickly become dependent on others. Family and others are there to care for them and help them. Meanwhile, watching their loved one lose their memory, become unable to speak, and their personality change is a huge stressor for caregivers.
Why do these prion diseases occur?
This is a bit of a scientific matter, but I'll put it simply. Prion diseases start when a normal prion protein in our brain (called `PrPc`) turns into an abnormal, misfolded protein (called `PrPSc` - that's a prion).
These abnormal prions (`PrPSc`) start to aggregate, or bind to, normal prion proteins (`PrPc`), turning them into abnormal prions. It's like throwing a bad apple into a pile of good apples, and the rest will go bad too. Over time, these abnormal prion proteins damage or destroy the nerve cells in the brain. That's when you can't walk, think, or talk properly.
How is prion disease diagnosed?
Doctors may use the following tests to diagnose a prion disease:
- Blood tests and lumbar puncture : People with a genetic mutation that causes inherited prion diseases are screened for biomarkers of disease or damage in their blood or cerebrospinal fluid (the fluid that surrounds the brain and spinal cord).
- Brain MRI scan : This can take very clear pictures of the brain, so doctors can look for signs of prion disease.
- Electroencephalogram (EEG) : This measures the electrical activity of the brain.
- Real-time quaking-induced conversion assay (RT-QuIC) : In this test, pathologists look for prions in spinal fluid. This is a relatively new, accurate test.
Is there a cure for prion diseases?
Unfortunately, doctors have not yet found a cure for prion diseases or a treatment that can control the progression of the disease. Prion diseases are life-threatening diseases . Most people die within months to years of being diagnosed with a prion disease.
Treatment focuses on palliative care . This means controlling symptoms and making the patient as comfortable and pain-free as possible. For example, doctors may prescribe medications for things like:
- Antiseizure drugs or muscle relaxants for myoclonus.
- Opioids for pain.
What kind of future does someone with a prion disease have?
At this time, there is no cure or treatment for prion diseases. However, researchers are investigating this in two ways, which could lead to early detection of the disease and future treatments.
The aforementioned `RT-QuIC` test has helped to detect prion disease before irreversible damage occurs to the brain. Researchers are also studying prions to find ways to stop the formation of these abnormal proteins and to prevent normal proteins from becoming abnormal.
What should I do if I have a prion disease?
Because prion disease progresses so quickly, it may be difficult for you to do your own work. If you have this disease, it is a good idea to have an ``advance directive'' completed.
Advance directives are legal documents. Examples:
- Living wills : If you have a terminal illness like prion disease, this document can specify what you want to happen to you (e.g. whether or not you want certain treatments).
- Durable power of attorney for healthcare (DPA) : This document can name who will make your healthcare decisions if you are no longer able to speak for yourself.
By planning things like this in advance, you can reduce the stress you and your family will experience later.
What if someone in the family has a hereditary prion disease?
Sometimes, people inherit genetic mutations that increase their risk of developing prion disease. Genetic tests can determine whether you have one or more of the gene mutations that cause prion disease. These tests can also show your specific risk.
Getting a genetic test for a fatal disease is a personal decision. Some people do not want to know if they are at risk. If you want to get a genetic test, ask a doctor for a referral. For example, in the United States, there are institutions like the ``National Prion Disease Pathology Surveillance Center`` for this. There are also specialist doctors in Sri Lanka who can advise on this matter.
How do you care for a family member with a prion disease?
A disease like this can turn your entire daily life upside down. While you're dealing with the shock and sadness of hearing that your loved one has a terminal illness, you also need to plan how you'll care for your family member. Here are some suggestions:
- Create a care plan : Depending on your situation, your family member may need care in a residential facility, or they may need care at home, relying on family, friends, and personal health aides. Your loved one may need help with daily tasks, such as going to the bathroom and eating.
- Arrange for hospice care : Prion disease is a fatal disease that can develop suddenly and get worse very quickly. If you arrange for hospice care in advance, your loved one can receive it when they need it.
- Create a calm environment : People with prion diseases are often unusually sensitive to sudden events (e.g., touching someone, hearing a loud noise, being in crowded places). They may become agitated or angry. Managing their environment can help them stay calm and relaxed.
At a time like this, it's important for the caregiver to think about themselves as well. You need rest and support too. Don't try to carry this burden alone.
When should I see a doctor?
The symptoms of prion diseases usually get worse very quickly. If you or someone in your family has a prion disease, you should work with your doctors to manage the effects of the disease.
In particular, if the previously mentioned symptoms (such as memory loss, difficulty walking, difficulty speaking, personality changes) begin suddenly and worsen rapidly, seek medical advice immediately.
What questions should I ask my doctor?
Finding out that you or someone in your family has a prion disease can be an overwhelming shock. You and your family have many challenges now, and more will arise as the disease progresses. Here are some questions to help you understand what to expect:
- How do you know I have a prion disease?
- What prion disease do I have?
- How does that affect me?
- What should I do next?
- What can I do to take care of my family member?
- Should my family undergo genetic counseling and testing?
Finally, things to remember
Prion diseases are a group of rare, fatal diseases that affect your brain. Prion symptoms can come on suddenly and get worse quickly. It can be heartbreaking to learn that you or someone you love has a disease that has no cure or treatment to control it.
However, there are treatments to help manage symptoms . And there are programs and services to help those affected by prion diseases and their caregivers. If you or someone you love has a prion disease, don't be afraid to ask questions and seek help. You are not alone.
` Prion Disease, Brain Disease, Neurological Disease, Dementia, CJD, Genetic Disease
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