What is Batten Disease? What you need to know about your child

Sometimes we feel very scared when we see diseases coming to our little ones, don't we? Especially if we don't know much about that disease. Today we are going to talk about a condition that is a bit rare, but one that we as parents should be aware of. This is called Batten Disease.

Simply put, Batten Disease is a group of genetic conditions that cause a buildup of waste products in our children's brain cells. Just like the garbage that accumulates in our homes if we don't take it out on time, this is what happens to brain cells. This waste product damages the structure and function of brain cells, which doctors call neurodegeneration. Eventually, these cells die. This is a very sad situation, because Batten Disease is fatal.

Your doctor may also call this disease ``Neuronal Ceroid Lipofuscinosis (NCL)``. That is the medical name for it.

There are some common symptoms that are common to all types of Batten disease. For example, seizures, gradual loss of vision, and changes in the way a child thinks and reason (cognitive problems). These symptoms may begin in infancy, early childhood, or young adulthood. These symptoms tend to worsen with age.

There is no complete cure for this yet, so doctors try to control the symptoms and give the child the best possible quality of life.

Are there different types of Batten Disease?

Yes, there are currently 14 known types of Batten disease. These are classified according to the age at which symptoms begin. Some children begin to show symptoms in infancy, others in late infancy, some in childhood, or even in the early teenage years.

The name of each of these types begins with the three letters `CLN`. That stands for `(Ceroid Lipofuscinosis, Neuronal)`. That is the name of the gene that is affected. Then a number from 1 to 14 is added.

The most common of these is the type called `CLN3`. This is also called `(juvenile Batten disease)`. Symptoms of `CLN3` usually begin between the ages of 5 and 15 years.

How rare is this disease?

This is actually a very rare disease. According to doctors, in a country like America, the chance of this disease developing is about 3 out of 100,000 newborns. This means that it is very rare to see this disease in Sri Lanka as well.

What are the symptoms of Batten Disease?

As we mentioned earlier, although there are different types of Batten disease, most of the time the symptoms are common. However, the age at which these symptoms begin can vary. The first symptoms that may appear are:

• Gradually decreasing vision. Perhaps the child has difficulty recognizing objects, or you may notice things that seem to be constantly bumping into things.
• Sudden changes in the child's behavior and personality. They may become more stubborn than before, get angry more easily, or lose interest in things they once enjoyed.
• Loss of balance and difficulty controlling limbs when walking or running (clumsiness). The child may seem like they are constantly falling.
• Seizures.

In addition to these, other symptoms may appear. They are:

• Decreased ability to think, reason, and understand something (cognitive function)
• Difficulty speaking. They may be slow to start speaking, may stutter, or may repeat the same words or phrases.
• Tremors, involuntary muscle contractions (tics, muscle spasms), or sudden jerking of a part of the body (myoclonus).
• Difficulty remembering past events, like losing memory in old age (dementia).
• Seeing or hearing things that are not really there (hallucinations) or acting out of touch with reality (psychosis).
• Sleep problems. You may have trouble falling asleep or wake up frequently.
• Muscle stiffness and rigidity, difficulty in bending and stretching (muscle spasticity and rigidity).
• Decreased strength in the arms and legs.
• Heart disease, such as irregular heartbeats (arrhythmia), can occur, especially in young people and teenagers.

Imagine, children with Batten disease initially grow up just like other children. They go through all the developmental milestones, such as crawling, walking, talking, and eating on their own. But then, all of a sudden, that progress stops, and they forget and cannot do what they have learned. Especially in children whose symptoms start at a young age, the condition worsens very quickly.

Why does Batten Disease occur? What is the cause?

Simply put, this is caused by a change in our genes, a gene mutation. This ``CLN`` gene is responsible for breaking down and removing waste products that build up inside our cells. Just like the person who takes out the garbage in our house.

So, when there is a defect or mutation in this `CLN` gene, the child's body is unable to properly remove this cellular waste. Then this waste – these are lipids, sugars, proteins, etc. – starts to accumulate inside the cells. Most of this waste accumulates in the brain cells.

When this waste accumulates, parts of the child's body stop working properly. The nervous system in particular cannot do its job amidst this pile of waste. That's why these life-threatening symptoms appear.

Is this a hereditary disease?

Yes, Batten disease is an inherited metabolic disorder . This means that for a child to develop the disease, both parents must be carriers of the gene mutation associated with the disease. Carriers mean that even though those parents have the gene mutation, they do not develop symptoms because they only have one copy of that gene.

In medical science, this is called ``autosomal recessive`` inheritance. This means that the child will only develop symptoms if they inherit the defective gene from both their mother and father. It's like having both sides of a lottery ticket be the same.

What are the possible complications of this disease?

This is really a sad fact. Babies, children, and even young adults can die quickly from Batten disease. The symptoms gradually get worse. For example, a child who initially has a slight loss of vision may eventually become completely blind. Also, the muscles may become weak, making it impossible to walk, and eventually paralysis may occur.

What happens is that when cells die, waste products build up inside them, and those cells can't do their jobs. This also affects the way the child's internal organs function. When the organs don't get the support they need from the cells, serious conditions like organ failure can occur.

How do doctors diagnose Batten Disease?

If a doctor suspects Batten disease, they will first examine your child carefully. They will also ask you about your child's symptoms and whether anyone in your family has had similar conditions. Then, they may do the following tests:

• Genetic testing: This involves taking a small amount of the child's blood or saliva and sending it to a lab for testing. There, they look for any changes or mutations in the previously mentioned CLN genes in the child's DNA. This genetic test is the only way to confirm for sure that Batten disease is present.
• Biopsy: In this test, the doctor takes a small piece of tissue from your child's skin and looks at it under a microscope. They can then look for abnormal accumulations of substances called lipofuscins (yellow-brown deposits made up of fats and proteins) in the skin cells.
• Eye exam: To check the health of the child's retina and optic nerve, a test called an Electroretinography (ERG) is performed. This measures how the retina responds to light.

In addition, other blood tests and imaging tests may be performed to rule out other conditions that may cause similar symptoms.

Is there a treatment for this?

As we mentioned earlier, there is no cure for Batten Disease. Therefore, the main goals of doctors in treatment are to control symptoms, provide comfort to the child, and provide you and your family with the support they need during this difficult time.

This is not treated by a single doctor, but by a team of specialists from different fields. They may use things like:

• Medications: For example, medications can be given to control seizures or to reduce things like the hallucinations we mentioned.
• Physical therapy and occupational therapy: These treatments can help reduce muscle stiffness, help the child do things on their own for as long as possible, and help them walk.
• Mental health counseling and therapy: Receiving a diagnosis like this can be very difficult for both the child and the parents to cope with. Therefore, it is very important to get psychological support.

Imagine, when you find out that your child will die soon from this disease, how much psychological impact it will have on you and your family? Therefore, psychological counseling is essential at a time like this. Also, there are support groups where you can join with others who have had similar experiences. They can give you a lot of strength.

In the meantime, researchers are continuing to find new treatments for Batten disease. They are investigating new drugs, stem cell transplants, and gene therapy, which replaces the defective gene with a good one. Your doctor may suggest that your child participate in one of these clinical trials.

Until new treatments become available, doctors focus more on controlling symptoms.

Is there a currently approved treatment?

Yes, there is currently one drug approved by the US FDA for use in children with the CLN2 type of Batten disease. It is called Cerliponase alfa (Brineura®). This is an injection given directly into the fluid surrounding your child's brain every two weeks. This drug may help to delay the child's ability to move (e.g., crawl, walk). However, it does not control other symptoms.

What is the prognosis of this disease?

To be honest, the outlook for Batten disease is not very good. As we have already said, it is a fatal disease. The symptoms gradually worsen over a period of weeks, months, or even years. Eventually, the child may become completely blind, unable to speak, walk, sit up alone, or interact with others. The rate at which the symptoms worsen can vary from one child to another.

I understand how shocking it is to learn something like this. But, until your child's body tells them, "I'm tired now," let them enjoy their childhood as much as possible, play, and do the things they love. During this time, your child needs your love and support more than ever.

You will have to visit doctors regularly and go to clinics to manage your child's symptoms. So you need to work closely with the medical team. You can ask them any questions you have during this journey.

As well as supporting your child, you and the rest of your family need a lot of support during this time. Planning ahead for the loss of a child and then dealing with the grief afterwards is a very difficult thing to do. It is not something you can do alone. So, if you need help during this difficult time, see a mental health counselor or your family doctor (PCP). You may want to consider counseling, family therapy, or joining a support group.

What is the life expectancy of a child with Batten Disease?

Most children with Batten disease live into early adulthood. However, the lifespan of a child varies depending on the type of disease and the severity of the disease. For example, children who develop symptoms in infancy or early childhood usually live for about five to six years after the onset of symptoms. However, a child who develops symptoms around age 10 may live into their early 20s. Simply put, the younger the age at which symptoms begin, the shorter the lifespan.

What happens in end-stage Batten disease?

The final stage of Batten disease is a condition where the child needs care 24 hours a day . At this point, the child may not be able to get out of bed or move. They may lose their vision completely and may not even be able to talk to you.

This is the most challenging stage of Batten disease. Doctors do everything they can to make the child as comfortable and pain-free as possible. During this final stage, the child's body gradually stops functioning.

Is there a way to prevent this disease?

Unfortunately, there is currently no way to prevent Batten Disease. However, if someone in your family or a child of yours has the disease and you are expecting another child, it is a good idea to talk to your doctor about genetic counseling. A genetic test can tell if you and your partner both carry the gene that causes the disease. A doctor can then help you plan for having a child.

When should you see a doctor?

If you think your child has symptoms of Batten disease, see a doctor immediately. Early detection can help improve your child's quality of life to some extent.

Also, if someone in your family has this disease and you are planning to expand your family (have a child), talk to a doctor about genetic counseling.

What are the important questions to ask the doctor?

When you go to see a doctor, it's a good idea to ask these questions:

• What type of Batten Disease does my child have?
• What kind of treatment do you recommend?
• Are there any side effects to those treatments?
• What symptoms should I look out for as my child grows?
• What is the prognosis?
• Are there any support groups you can recommend?

Can adults also get Batten Disease?

Yes, although very rarely, adults can develop symptoms of Batten disease. It usually occurs around the age of 30. If adults develop the disease, the symptoms are often not as severe. Also, these symptoms that appear in adulthood do not shorten life expectancy.

Finally, the most important thing we need to remember is

No parent wants to hear that their child has a terminal illness and will die before they reach adulthood. It's normal to feel a lot of disappointment, sadness, anger, and frustration at a time like this. You can feel those emotions.

It can be very helpful to meet with a genetic counselor to learn about Batten Disease, what to expect, and how you and your family can help navigate this difficult journey.

The most important thing is to remember that you are not alone. Although there is no cure for Batten disease, researchers are continuing to find new treatments. They are investigating several medications that can control symptoms and improve a child's quality of life.

Ask your doctor about support groups where other parents are going through this. Sharing your experiences and learning from others can be a great source of strength and comfort during this time.

` Batten Disease, Genetic Diseases, Nervous System Diseases, Pediatric Diseases, NCL, Symptoms