Let's talk about Familial Dysautonomia: An inherited nervous system disorder!

Have you ever heard that some things in our body happen automatically, without us even realizing it? Think about it, breathing, digesting food, regulating our body temperature, salivating, crying... All of these things happen automatically in our body, that is, without us thinking about them. But, what happens if there is a weakness or problem in our nervous system , which controls these automatic things? Today we are going to talk about such a rare, but very serious, congenital disease. This is called Familial Dysautonomia (FD) .

What is Familial Dysautonomia?

Simply put, familial dysautonomia (FD) is a congenital condition that affects your nervous system. It mainly affects the parts of your body that control automatic processes . That is:

• Breathing
• Digestion
• Tears forming
• Regulating blood pressure and body temperature
• The formation of saliva

In addition to this, it also affects your sensitive nervous system . That means:

• Taste
• Sensitivity to pain and temperature

This condition is caused by a gene mutation inherited from parents. This condition, called Familial Dysautonomia, is also known as:

• Riley-Day syndrome
• HSAN type III hereditary sensory and autonomic neuropathy (Type III hereditary sensory and autonomic neuropathy - HSAN type III)

Sadly, this familial dysautonomia condition can cause developmental delays in children and can shorten their lifespan.

Who is more likely to develop this condition?

Familial Dysautonomia requires a child to inherit a defective gene from both parents . This is a very rare condition. It is especially common among people of Ashkenazi Jewish descent . It is reported that about one in 10,000 Ashkenazi Jews in the United States and about one in 3,700 in Israel are born with the condition. This means that it is not a disease that affects everyone.

What is the reason for this?

This is due to mutations in genes . Both of your parents must carry a mutation in a gene called ELP1 . This ELP1 gene makes a protein that helps your nervous system develop. So, if there is a mutation, or deficiency, in this gene, problems occur in the functioning of parts of the nervous system. To put it simply, if one important piece of furniture is missing while building a house, the whole house will fall apart.

What are the symptoms of Familial Dysautonomia (FD)?

Symptoms of this condition begin in infancy . Early symptoms include:

• Difficulty in breastfeeding: It is difficult for a young baby to suckle properly.
• Difficulty swallowing (dysphagia): Difficulty swallowing food and drink, feeling like it's choking.
• Inability to maintain body temperature: Body temperature may increase or decrease suddenly.
• Lack of tears when crying: This is a very special symptom. A small child does not shed tears when they cry.
• Poor growth: The baby's weight and height do not increase in proportion to their age.
• Muscle weakness (hypotonia): The body feels limp and limp.

As the child gets older, they may sometimes hold their breath, as if they are choking. But this holding of breath usually disappears by the age of 6.

As the disease progresses, other symptoms may appear:

• Heartbeat abnormalities (arrhythmia): The heart rate becomes irregular.
• Taste abnormalities: You may not be able to taste food properly.
• Abnormal curvature of the spine (scoliosis): The spine appears to be curved to one side.
• Balance problems and gait disorders: Difficulty walking, risk of falling.
• Bedwetting: Wetting the bed at night while sleeping.
• Chronic acid reflux (GERD): Frequent heartburn and a feeling of heartburn rising to the throat.
• Developmental delays: Things like talking and walking are delayed.
• Excessive salivation.
• Eye problems: things like dry eyes, strabismus.
• Inability to feel pain and temperature changes: Heat, cold, cuts, and wounds are not felt properly.
• Visual impairment and loss of vision.
• Lung infections: Frequent infections occur due to mucus buildup in the lungs.
• Weakening of bones (osteoporosis) and increased risk of fractures.
• Weaknesses in controlling breathing, especially during sleep.
• Seizure conditions such as epilepsy.
• Vomiting.

Many people with familial dysautonomia have problems controlling their blood pressure . This can cause low blood pressure when standing (orthostatic hypotension), which can cause dizziness and fainting. High blood pressure (hypertension) can also lead to kidney disease.

About 40% of people with this condition experience periods called "autonomic crises" when symptoms suddenly worsen. During these times, the following may occur:

• Fever.
• Heart palpitations.
• High blood pressure.
• Redness of the skin.
• Sweating.
• Vomiting.

Imagine how difficult it must be for a small child to have these kinds of problems all the time. It's hard for parents to bear this either. But there are solutions to all of this according to medical advice.

How is Familial Dysautonomia (FD) diagnosed?

Your doctor will first ask you about your symptoms and then perform a physical examination .

The main thing is to see if tears come out when you cry. For babies under 6 months old, a test called the Schirmer test is done:

• What you do is place a small piece of filter paper on the inside of the baby's lower eyelid.
• If, after five minutes, the amount of moisture in the leaf is less than 10 milliliters, it is suspected that the baby may have familial dysautonomia.

In addition, the doctor will also look at these things:

• Decreased tendon reflexes: If you have FD, your muscles will not respond when a doctor lightly taps them.
• Reaction to a histamine injection: When a person with FD receives this injection, the skin does not become red and swollen like a normal person.
• Reaction to methacholine: About 20 minutes after applying this medication, the pupil of the eye will shrink if FD is present.
• Smooth tongue appearance: If you have FD, your tongue will appear smooth because the taste buds (fungiform papillae) located at the back center of your tongue are missing.

If you notice these symptoms, your doctor may suggest genetic testing , which involves taking a blood sample and checking for the genetic mutation that causes familial dysautonomia.

What are the treatments for Familial Dysautonomia (FD)?

The main focus of treatment for FD is to reduce symptoms . There are various treatments available for this:

• For lung infections: Antibiotics or chest physiotherapy.
• For orthostatic hypotension: Compression socks or a permanent pacemaker.
• For breathing problems during sleep: Devices such as CPAP or BiPAP® (Bilevel Positive Airway Pressure).
• To protect the cornea of ​​the eyes: Eye drops.
• For dehydration due to vomiting: Give intravenous saline (IV fluids).
• For GERD, kidney disease, saliva production, epilepsy, or vomiting: different types of medications.
• To make daily tasks easier: Occupational therapy.
• To improve balance: Physical therapy.
• For back problems: Surgery.
• To increase nutrition: Providing tube feeding (enteral nutrition).

Meanwhile, researchers continue to conduct clinical trials of new treatments . It is hoped that these treatments will eventually be able to treat not only the symptoms but also the disease itself.

Can the risk of familial dysautonomia (FD) be reduced?

We can't really reduce the risk of developing FD, as it is genetic. However, it is important to be aware of the symptoms and seek medical attention and treatment as soon as possible .

If you are of Ashkenazi Jewish descent and are planning to have a child, it is a good idea to seek genetic counseling . Your doctor may also recommend genetic testing to see if you carry the ELP1 gene before or during pregnancy.

What is the outlook for someone with Familial Dysautonomia (FD)?

There is no cure for familial dysautonomia. People with this condition have a shorter lifespan than the average person. About half of these people live into their 30s. Others may live into their 70s.

Hearing this may make you feel a little scared and sad. But remember, with proper treatment and good care, you can help these people live as good and fulfilling lives as possible.

Symptoms can worsen over time. For example, about 49% of people with FD will need help walking by age 50. They may also develop frequent lung infections, such as pneumonia .

How does someone with Familial Dysautonomia (FD) take care of themselves?

You can help reduce complications by following these steps:

• Avoid hot or humid weather.
• Limit stressful situations.
• Avoid long trips.
• Try not to wait until your bladder is full.

Also, you should have your doctor check these things regularly :

• Blood pressure.
• Eyes.
• Kidney function.
• Respiratory function.
• Spine.

Take-Home Message

Familial dysautonomia (FD) is a rare, genetic condition that affects your nervous system. It specifically affects involuntary functions such as breathing, digestion, tear production, blood pressure and body temperature control, and saliva production. It can also affect sensory functions such as taste, pain, and temperature.

Although there is no cure, treatments such as medications, various therapies, and surgery can help control symptoms and make life easier. Although the life expectancy of people with familial dysautonomia may be shortened, with proper treatment and care, they can live as good a life as possible. The most important thing is to seek medical advice as soon as possible if you have symptoms and to remain under constant medical supervision.

` Familial dysautonomia, nervous system, genetic diseases, Riley-Day syndrome, child health, symptoms, treatment