Living with a disease is not simple. When you realize it is your child who has a chronic illness like X-linked agammaglobulinemia and CVID does not have a possible cure, it is not something you can brush off and move on. You need to make a lot of changes to your child’s lifestyle, habits, thought process, and just about everything else.

Your financial and personal plans all take a back seat as your child’s health takes the stage. What is it exactly to live with an immune deficiency? This is especially important when you could pass something to your child genetically.. Read on to know what it is like living with X-Linked Agammaglobulinemia and CVID.

In This Article

• What is X-Linked Agammaglobulinemia Disorder?
• What is CVID?
• Are X-Linked Agammaglobulinemia and CVID Related?
• What Are the Symptoms of X-Linked Agammaglobulinemia and CVID?
• What Causes X-Linked Agammaglobulinemia?
• How is X-Linked Agammaglobulinemia Diagnosed?
• Can X-Linked Agammaglobulinemia be Prevented?
• How is CVID Diagnosed?
• What Are the Treatment Options For Children With XLA and CVID?
• Living With X-Linked Agammaglobulinemia and CVID
• FAQ’s

What is X-Linked Agammaglobulinemia Disorder?

X-Linked Agammaglobulinemia (XLA) is a genetic immune deficiency that a child usually inherits from the mother. This rare disorder weakens a child’s immune system, making them more vulnerable to infections.

The disorder passes down through the X chromosome, which is why doctors call it X-linked. Each person inherits 23 pairs of chromosomes—one set from each parent. One of these pairs determines the child’s sex: males inherit one X and one Y chromosome, while females inherit two X chromosomes.

When a mother carries an abnormal X chromosome, she can pass it to her child. If the child is a girl, she will become a carrier but usually will not develop the disease. If the child is a boy, he will inherit the abnormal X chromosome and develop the condition. This difference happens because a girl’s second, healthy X chromosome from her father balances the defective one from her mother. Boys, having only one X chromosome, do not have this backup, so the defect affects them.

Boys with XLA cannot produce B cells, a type of white blood cell that creates antibodies (immunoglobulins) to fight infections. Since their bodies cannot make these antibodies, doctors call the condition agammaglobulinemia.

What is CVID?

Common Variable Immune Deficiency is a type of primary immunodeficiency disease that is more common in adults. Its main characteristic is a low level of antibodies in the blood. When these levels are low, the immune system is weak, thus making the person more prone to infections.

The exact cause of this defect is still not very clear, but it is a genetic defect. It is, in fact, not a rare disorder and is one of the common primary immunodeficiency disorders in adolescents and adults. However, the intensity and the type of deficiency can vary from patient to patient.

Are X-Linked Agammaglobulinemia And CVID Related?

Both are immune deficiency disorders and are genetically inherited. While XLA presents itself in infancy, CVID presents itself in adults. Both compromise immunity and weaken the body, making it more prone to infections.

With CVID, your adult life will be affected, and you may have to make adjustments or changes to live with this condition. In some cases, though, children are also known to suffer from this condition. In the case of XLA, since it presents itself any time after birth to a one-year-old child, it will impact the child’s lifestyle and growth. The child and the family will have to learn to live with this disorder.

What Are the Symptoms of X-Linked Agammaglobulinemia and CVID?

Here are a few symptoms that can indicate XLA:

• Frequent infections of the Sinuses, lungs, or ears.
• Sometimes the infections can be severe, enter the bloodstream, and reach internal organs, thus harming them.
• Skin infections/inflammations and infections in the gastrointestinal tract are also common in XLA.
• Failure to grow as per normal expectations.
• Joint issues in the knees.
• Absence of tonsils and adenoids.

The following symptoms can indicate a possible CVID:

• Recurring infections in the bronchi, sinuses, and ears.
• Recurring infections in the lungs can damage the bronchial tree.
• Enlarged lymph nodes in the chest, abdomen, and neck.
• Enlarged spleen
• Presence of auto-antibodies – antibodies that attack the body instead of attacking infections.
• Recurring bacterial infections.
• Gastrointestinal issues like bloating, abdominal pain, nausea, diarrhea, vomiting, or constipation.

In most cases, these symptoms may not present themselves, or the diagnosis may not happen until the person is 30-40 years old. In very few cases, diagnosis can happen at an early age.

What Causes X-Linked Agammaglobulinemia?

An abnormal X chromosome carrying a defective BTK gene causes this immune deficiency in a person. Mother is a carrier and is healthy. The maternal uncle of the affected child may also have the same disease, which may not have been diagnosed for many years. Historically, the death of maternal uncles at a young age and/or recurrent infections in the brothers in the same family are suggestive of an X-linked disease.

How is X-Linked Agammaglobulinemia Diagnosed?

When your child shows any of the classic symptoms of XLA, the healthcare provider will diagnose the condition with the following tests.

1. Family History

The doctor will ask for a complete family medical history. If there is a family history of XLA or if they have enough reason to suspect XLA in your child, they will ask for further tests.

2. Physical Exam

The doctor will then conduct physical exams to check for other symptoms or effects of the disease, like infections spreading to the organs, delayed growth, poor weight gain, etc.

3. Immunological Tests

Your child may undergo testing for

• Immunoglobulin levels (IgG, IgA, IgM)
• B-cell counts.

In children with XLA, immunoglobulins and B-cells will be very low.

4. Genetic Tests

The doctor will also recommend genetic Tests to confirm the diagnosis. A defect in the BTK gene causes XLA, and the doctor will recommend tests accordingly.

Young children fall sick very often, as their immune systems are very immature and are just adjusting to the environment and the pathogens in it. So it is easy to discard the symptoms as regular infections. However, if you notice your child is sick very often and is not reaching their growth milestones, you need to let your doctor know everything.

Can X-Linked Agammaglobulinemia Be Prevented?

Unfortunately, no, it’s not that simple. It may not be possible to prevent XLA in the first child. However,  prenatal tests in subsequent pregnancies will help determine the chances of this disorder in the fetus. To know more, read this article – My child has a genetic immune deficiency – Can I prevent this disease in my next child

How is CVID Diagnosed?

CVID can be diagnosed by performing a few blood tests. Adults with CVID have low antibodies/immunoglobulins. By performing a few immunological blood tests (example: immunoglobulin levels), doctors can diagnose CVID.

What Are the Treatment Options For Children With X-Linked Agammaglobulinemia and CVID?

If doctors diagnose your child with XLA, they must provide ongoing treatments and medical care. Similarly, doctors treat adults with CVID using the same approach.

Some of the treatment options are:

1. Preventing Infections

With an immune deficiency, the best way to keep your child safe is to prevent infections. While keeping their surroundings and environment clean can be the best way to do this, it is not always feasible. So, start with your child first.

2. Maintaining Hygiene

Teach your child good hygiene practices like washing their hands well with soap, not touching everything around them, not touching contaminated surfaces, and putting it on their face. Teach them to stay away from people who are sick. Let people around them know about their unique condition so that they are careful around them.

If they do catch an infection, consult your doctor immediately and start them on antibiotics as recommended.

3. Antibodies/IVIG Replacement

XLA can prevent your child’s body from making all kinds of antibodies. By providing these antibodies externally, you can give their body the strength to fight the pathogens causing infections.

This will help the body defend itself with some extra support. Doctors give antibodies as injections called IVIG, or intravenous immunoglobulin. Doctors administer IVIG through a vein to help the body fight infections. They usually give these injections once a month for life.

4. Antibiotics

Children with a very weak immune system or severe XLA who are prone to continuous infections can be put on low-dose prophylactic antibiotics constantly. The idea is to prevent an infection that can spread to the organs or weaken the body further.

5. Avoiding Certain Vaccines

Live vaccinations are not safe for children with immune deficiency disorders like XLA. The immune system is already weak and possibly attacking the body instead of protecting it. In such a situation, when you introduce a live virus, the body will not have enough immunity to produce the right antibodies to fight it. It will only cause more complications.

Living With X-Linked Agammaglobulinemia And CVID

Living with XLA or CVID requires a lot of lifestyle changes, like maintaining an active lifestyle, not performing activities that can hurt you as the immune system is not strong enough to produce the right antibodies, eating immunity-boosting foods, etc. Here are a few pointers to bear in mind.

1. Lead a Healthy Lifestyle And Teach Your Child The Same

It can be quite frustrating to live with such a disorder that requires you to compromise on many things. However, with careful and close monitoring and a few lifestyle changes, you can lead a healthy and good life. You need not compromise on the quality of life just because you or your child has  XLA or CVID.

2. Stress-Free Living is Very Important

If your child has XLA, teach them to lead a conscious life and be supportive when they are unable to cope with the stress of the disease. Join support groups to mingle with people who suffer from similar complications. Knowing you are not alone in this journey can make it easier to fight this disorder.

3. Being Regular With Medications is Vital

By being on regular IVIG injections, children with XLA and adults with CVID can lead a healthy life. They would be able to perform all activities of daily life without any hindrance.

Living with an immune deficiency like XLA or CVID is not easy. It requires tremendous and constant effort from the patient and their families to ensure they are safe from severe infections. There are no permanent cures, nor are there many options to prevent this genetic disorder. Once diagnosed with this immune deficiency, one has to learn to live with it. IVIG injections are a must for these children, and these injections help them stay safe.

A lot of research is underway to find a possible cure or better treatment options. Keeping in touch with the healthcare system and updating yourself about various developments in this field can help you find better options when they are available.

FAQ’s

1. How Common is X-Linked Agammaglobulinemia ?

X-linked agammaglobulinemia is a rare type of genetic disorder. As per records, only one in 2,00,000 newborns. We cannot predict the chances of this genetic disorder passing to the next generation. A diagnosis is possible only when the baby starts showing classic symptoms of XLA.

2. Is XLA a Primary Immune Deficiency?

Yes, XLA is a primary immune deficiency. A PID is something a child is born with, mostly caused by a faulty gene. XLA is a genetic immune deficiency, meaning it passes from a parent to the child. It occurs due to a defect in the BTK gene. These children fail to produce antibodies to fight off infections.