Does your little one stumble more often than other children when walking, or does he seem to have difficulty maintaining his balance? Does he sometimes have small red spider webs on the whites of his eyes or on his cheeks? These are small things that we sometimes ignore, but they could be early signs of a rare genetic condition called `Ataxia-Telangiectasia (AT). So, although this is a bit of a complicated topic, let's talk about it in a simple way that you can understand.
What exactly is `Ataxia-Telangiectasia (AT)`?
Simply put, `Ataxia-Telangiectasia (AT),` also known by some as `Louis-Bar Syndrome,` is a very rare genetic condition that primarily affects our nervous system, the network of nerves that carry messages from the brain, spinal cord, and throughout the body, and the immune system, which protects our body from disease.
This is a `(neurodegenerative)` condition. That is, over time, the cells in our nervous system gradually weaken, and their function decreases. Think of it like a machine that used to work well gradually gets old, and the parts wear out and stop working. When these nerve cells weaken, a condition called `(ataxia)` occurs, in which the body loses its balance and movements become irregular at an early age. That is why "ataxia" is called that.
The other main symptom is telangiectasia. This is when tiny red, thread-like blood vessels appear on the whites of the eyes, and sometimes on the cheeks and earlobes. These are usually painless, but they are a sign of the disease.
Who can develop this condition?
`Ataxia-Telangiectasia (AT)` is caused by a change in genes, that is, a `gene mutation` . Anyone can inherit this. But how do you know? This disease occurs only if the child receives a mutated copy of this `ATM` gene from both the mother and the father. In medicine, we call this `(autosomal recessive)` inheritance.
Imagine that both parents have only one copy of this mutated gene. Then they will not show symptoms, because two copies of the mutated gene are needed to develop the disease. But they will be "carriers" of this gene. So, a child from two parents who are carriers has the possibility of receiving both copies of this mutated gene. If that happens, the child will have the `AT` condition. According to statistics in the United States, about 1% of the population in that country are carriers of this mutated copy of the `ATM` gene.
How common is `Ataxia-Telangiectasia (AT)`?
This is a very rare disease . Worldwide, it is estimated that approximately one in 40,000 to 100,000 people have this disease. This means that it is very rare in Sri Lanka as well.
How does this disease affect a child's body?
`Ataxia-Telangiectasia (AT)` is a disease that gradually worsens over time . That is, the symptoms increase over time. A child with `AT` usually begins to show symptoms around the age of 5.
The first symptoms to appear are problems with movement.
- When walking , it feels like my legs are getting tangled and I lose my balance .
- The limbs are twitching unnaturally.
- The muscles just twitch.
- When I speak , my words get tangled up, and it feels like I have difficulty speaking .
As your child gets older and enters adolescence, they may need a mobility aid, such as a wheelchair, to get around. I understand that this can be difficult for parents to handle, but it is important to be aware of this situation.
What are the symptoms of `Ataxia-Telangiectasia (AT)`?
As we have discussed before, there are two main symptoms of this disease:
1. Difficulty coordinating movements (ataxia) : Difficulty walking, loss of balance, etc.
2. Small red blood vessels that appear in the eyes and skin (telangiectasia) : These are usually seen in the whites of the eyes, cheeks, and ears.
In addition to this, a number of other movement-related symptoms can be seen in the `AT` condition:
- Difficulty walking (this is one of the main symptoms that is seen first).
- Inability to move the eyes from side to side ``oculomotor apraxia`` or abnormal eye movements ``nystagmus``.
- Involuntary, jerky movements (chorea).
- Muscle twitching (myoclonus).
- Gradual loss of nerve function (neuropathy).
- Slurred speech : Many children have difficulty pronouncing words correctly and using the right emphasis in their speech. As a result, their speech does not sound like "normal" speech.
- Balance problems .
- Growth retardation or endocrine system dysfunction: This condition can be exacerbated by frequent infections and changes in growth hormones.
Ataxia-Telangiectasia (AT) is a disease that weakens a person's immune system . This weakness increases over time. Symptoms of a weakened immune system include:
- Frequent occurrence of chronic lung infections.
- Feeling tired all the time (fatigue).
- Getting sick more quickly than others.
- Frequent infections and slow healing of wounds.
- Increased risk of developing cancers such as `Leukemia` (blood cancer) or `Lymphoma` (cancer of the lymph nodes).
- Hypersensitivity to radiation exposure (e.g. X-rays).
Another symptom is an increase in the level of a protein called `alpha-fetoprotein (AFP)` in the blood. The exact cause of this increase in `AFP` levels is not known.
What causes `Ataxia-Telangiectasia (AT)`?
This disease is caused by a mutation in the gene called ``ATM''.
Now let's see what these genes and chromosomes are simply. Imagine that there is a big book that has all the instructions for our body to grow. That book is called `DNA`. The chapters of this `DNA` book are called `genes`. This `DNA` is stored inside things called `chromosomes`. Normally, a human has 46 chromosomes, which are arranged in 23 pairs. We get one from our mother and the other from our father to form these chromosome pairs.
When cells in the reproductive organs are formed, these cells divide and make copies of themselves. Sometimes, like a printer jamming a sheet of paper, these cells can make mistakes in their genes, called mutations. Some copies of the instructions are made exactly as they are, and some are made incorrectly.
As we mentioned earlier, this mutated gene is inherited in an ``autosomal recessive`` pattern. This means that both the mother and father are carriers of this mutated ``ATM`` gene, and the child will develop the disease if they both inherit the mutated gene. If it comes from only one parent, the child will only be a carrier and will not show symptoms.
This `ATM` gene is very important. Because it produces proteins that tell the body how to repair our `DNA` when it is damaged. `ATM` proteins are like detectives. They are the ones who find damaged cells and `DNA` fragments and bring the `(enzymes)` needed to repair them. It is because of this `DNA` repair process that the pages of our body`s instruction book turn smoothly.
Also, the `ATM` protein tells our nervous system and immune system, "You need to work properly." So, when there is a mutation in the `ATM` gene, the function of the `ATM` protein decreases over time. That means that cells lose parts of their instruction manual, and they can't work properly. That's the main reason for the symptoms of `Ataxia-Telangiectasia (AT)`. Got it?
How is `Ataxia-Telangiectasia (AT)` diagnosed?
A doctor will start by examining your symptoms and performing imaging tests and blood tests to determine the genetic mutation that is causing your symptoms. Your doctor will also take a detailed look at your child's health and family medical history to make a diagnosis. If you suspect you have AT, it's important to see an immunologist for a full evaluation.
What tests are used to diagnose `Ataxia-Telangiectasia (AT)`?
There are several tests that can help diagnose this disease:
- Genetic testing : This is a blood test that can pinpoint the specific genetic mutation that is causing your symptoms.
- Magnetic Resonance Imaging (MRI) : An MRI scan takes pictures of the brain and looks for signs of nerve cells or cerebellum cells weakening (cerebellar atrophy). This is a sign that ataxia is getting worse.
- Karyotyping : This is also a blood test. It examines chromosomes to identify genetic conditions.
- Blood tests : Blood tests are done to check for elevated alpha-fetoprotein (AFP) levels.
In many countries, newborn screenings are used to detect the condition Ataxia-Telangiectasia (AT). Otherwise, doctors usually diagnose the condition in early childhood.
What are the treatments for `Ataxia-Telangiectasia (AT)`?
Treatment for `Ataxia-Telangiectasia (AT)` is only to control the symptoms . There is no cure for this disease yet . Treatment options are individualized, meaning they may vary from child to child. They may include:
- To control telangiectasia, which is a network of blood vessels that appear on the skin , avoid excessive sun exposure .
- If cancer develops , chemotherapy is used.
- Physical therapy to strengthen muscles.
- Getting gammaglobulin injections for respiratory infections.
- Receiving immunoglobulin therapy to support a weakened immune system.
- Taking antibiotics to treat infections.
- Taking medications such as Diazepam to control speech difficulties and involuntary muscle movements.
Can I reduce my child's risk of developing `Ataxia-Telangiectasia (AT)`?
Because `Ataxia-Telangiectasia (AT)` is the result of a genetic mutation, there is no way to prevent it from occurring . However, in general, there are things you can do to reduce your risk of having a child with a genetic disorder, such as avoiding smoking and avoiding exposure to chemicals. If you are planning to become pregnant, it is a good idea to talk to your doctor about genetic counseling to understand your risk of having a child with a genetic disorder like `Ataxia-Telangiectasia (AT)`.
What should I expect if I have a child with `AT`?
Ataxia-Telangiectasia (AT) is a disease that gets worse over time. Mild symptoms that affect your child's movements start in childhood, along with visible blood vessel networks in the skin. As the child gets older, their cells lose their ability to work according to the instruction manual. This means that the child's symptoms become more severe, and they may often need to use a wheelchair by the time they reach adulthood.
One symptom of this condition is a weakened immune system, so even a minor infection can have a serious impact on a child's health.
A weak immune system also increases the risk of developing cancers such as leukemia or lymphoma. However, there are treatments to improve the functioning of the immune system, which can help keep your child healthy.
Life expectancy for AT varies depending on the severity of symptoms. However, most people with the disease live into young adulthood (around 30 years, average 25 years). Early treatment of common infections and preventive screenings for cancer can help extend life expectancy.
Is there a cure for `Ataxia-Telangiectasia (AT)`?
No, there is no cure for `Ataxia-Telangiectasia (AT)` yet . Treatments aim to relieve symptoms, make life easier for each person with the disease, and help extend their lifespan.
How do I take care of my child with `AT`?
When you find out that your child has `Ataxia-Telangiectasia (AT),` it can be difficult to understand the full nature of the condition and know exactly how to help your child. Your child's doctor will provide a treatment plan tailored to his or her symptoms, and he or she will be available to answer any questions you may have.
Your doctor may also suggest that you meet with a genetic counselor . Genetic counselors are experts in genetics. They can help your family learn more about Ataxia-Telangiectasia (AT) and help your child live a comfortable, fulfilling life. They can also help you cope with the stress you may be facing as your child receives a diagnosis.
When should I see a doctor?
Because Ataxia-Telangiectasia (AT) affects the immune system, if your child shows signs of an infection , you should see a doctor immediately for treatment. Signs of an infection may include:
- Skin discoloration in the infected area.
- Chills.
- Cough.
- Fever.
- A feeling of pain or injury in one part of the body or the whole body.
- Swelling somewhere in the body.
- Shortness of breath.
- Vomiting or diarrhea.
What questions should I ask my doctor?
- Should I see a physical therapist to improve my child's muscle strength?
- Are there any side effects from the treatments prescribed for my child's symptoms?
- If I am a carrier of the mutated gene, am I at risk of having a child with `Ataxia-Telangiectasia (AT)`?
Understanding your child's diagnosis of `Ataxia-Telangiectasia (AT)` can be a very difficult and stressful experience for you as a caregiver. However, your doctor will provide you with a good treatment plan that is tailored to your child's symptoms. The most important thing is to give your child the love and support they need throughout their life. Also, be aware of any new symptoms that appear, get them treated quickly, and try to prolong your child's life as much as possible.
## Important things to remember (Take-Home Message)
Ataxia-Telangiectasia (AT) is a rare genetic disorder that can have a profound impact on a child and their family. It is normal to feel scared and anxious when learning about it.
- It's important to recognize early signs : Seek medical advice if you notice a change in your child's walking pattern, balance, difficulty speaking, or strange red spots on the skin/eyes.
- Although there is no cure for this, symptoms can be managed : proper treatment and support services can help improve the child's quality of life and extend their lifespan.
- Take care of your immunity : Children with `AT` are at higher risk of developing infections. So be aware of the signs of infection and seek treatment promptly.
- You are not alone : You and your child can get the support you need from doctors, genetic counselors, and support groups.
- Love and support are the most important things : Your love, patience, and support are the most valuable things for your child during this journey.
I hope this information has helped you gain some understanding of this complex condition. If you have any further questions, don't hesitate to talk to a doctor.
` Ataxia-telangiectasia, AT, Louis-Bar syndrome, genetic diseases, nervous system, immune system, movement disorders, rare diseases, pediatric diseases
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