What you need to know about Alpers Disease

There is no greater pain for a mother or father than watching their child gradually deteriorate before their eyes. A child who was running around and playing all of a sudden starts to tremble with a seizure-like condition, or sees his thinking and learning gradually decline, it is difficult to put into words the fear and shock that you feel. That is the unimaginably severe and extremely rare disease that we are going to talk about today. This disease is Alpers Disease, or ``(Alpers Disease)``.

Simply put, what is Alpers Disease?

Alpers disease is a rare genetic disease that affects the mitochondria, which are the little power plants that power our cells. Think of it like there are lots of little batteries inside every cell in our body, and those batteries are what give those cells the energy they need to function. What happens in Alpers disease is that these batteries, the mitochondria, don't work properly.

This loss of energy mainly damages three of the most important organs in our body.

1. Brain: Dementia can occur due to impaired brain function, leading to memory loss.

2. Liver: Liver function may stop completely, leading to liver failure.

3. Muscles: Seizures can occur due to abnormal electrical activity in the brain.

Symptoms of this disease can usually appear at any age, from one month to 36 years. However, it is most often seen in childhood, especially between the ages of 2 and 4. Sometimes, this disease can also appear at a young age, that is, between the ages of 17 and 24. Sadly, this is a very serious condition, and it often ends in death.

This disease is caused by a genetic defect that we inherit from birth. This means that even if the child has the genes for this disease in their body at birth, it can take weeks, months, or even years for symptoms to appear.

Alpert's disease is known by several other names:

• Alpers-Huttenlocher syndrome
• Alpers syndrome
• Progressive infantile poliodystrophy

Who gets this disease? How common is it?

Anyone who inherits the defective gene that causes Alpers disease can develop the disease. It affects both sexes equally, regardless of gender.

But don't worry, this is a very rare disease. The average incidence is about 1 in 100,000 . It is also said to be slightly more common among people of Northern European descent.

Why does Alper's disease occur? What is the cause?

The main reason for this is a change, or mutation, in a gene called `POLG1` in our body. This is something that is passed down from generation to generation.

In simple terms, it's like this. To make a child, you need to get a gene from your mother and a gene from your father. To develop Alpers disease, the child must inherit the defective `POLG1` gene from both the mother and the father. Even if both parents are carriers of the defective gene, they may not have symptoms. But if the child inherits both defective genes from both of them, the child will develop Alpers disease.

As we discussed earlier, this defect in the `POLG1` gene causes the DNA in the mitochondria, the energy centers of our cells, to not function properly. This is why organs that require the most energy, such as the brain, liver, and muscles, are most severely affected.

Some researchers believe that if an environmental factor, such as a virus, affects someone who inherits these defective genes, it could also cause the disease to develop.

What are the symptoms of this disease?

The symptoms of Alpert's disease can vary over time. They can be divided into early symptoms and those that appear as the disease progresses.

Let's understand these symptoms more clearly from the table below.

How do doctors diagnose this disease?

Your doctor will usually carefully examine your child's symptoms, paying particular attention to the three main symptoms we discussed earlier : memory loss, liver disease, and epilepsy .

In addition, several other tests are performed to confirm the diagnosis.

Is there a treatment for this?

Sadly, no treatment has been found to date to cure Alpert's disease or stop the progression of the disease.

However, there are a variety of supportive treatments that can help manage symptoms, reduce discomfort, and improve quality of life. Your doctor may recommend treatments such as:

• Medications to control epileptic conditions: Anticonvulsant medications are given to reduce the occurrence of seizures.
• For nutrition and hydration: If you have difficulty swallowing food, a tube (percutaneous endoscopic gastrostomy) can be inserted into your stomach to provide food and fluids.
• Diet: Low protein, small frequent meals.
• Physical therapy: Exercises and treatments to reduce muscle stiffness and strengthen muscles.
• Occupational therapy: Training to perform daily tasks independently.
• Speech therapy: Helps with speech difficulties.
• Painkillers and muscle relaxants: Medications are given to reduce pain and muscle stiffness.
• Respiratory support: If breathing difficulties occur, breathing is assisted by machines such as `CPAP` or `BiPAP®`, or if necessary, by `(tracheostomy)`.

Also, your doctor will perform various blood tests (such as `Complete blood count - CBC`, `Liver function test`) every few months to monitor the patient's condition and adjust treatment as necessary.

If you are caring for a sick child...

We know this is a very challenging journey. As the disease progresses, you and your child may need extra support. There are many specialists and services that can help you on this journey.

• Specialists: You can seek help from gastroenterologists, nutritionists, and psychiatrists.
• Home Nursing Service: In cases of acute illness, trained nursing staff can be called upon to come to your home and care for your child.
• Palliative care teams: These teams help provide the support and mental strength needed to keep the child comfortable and free from pain during the final stages of the disease.

Alpert's disease is a progressive condition that usually occurs between 4 and 10 years after the onset of symptoms.

If you know that this gene runs in your family and you are expecting a child, it is very important to meet and talk to a genetic counselor. They will provide you with the advice and support you need.