My Child Has a Genetic Immune Deficiency - Can I Prevent This Disease in My Next Child?

When you have a child, as a parent there are several things you want to pass down to them. You want nothing but the best for them. Yet, many things go out of your control. Sometimes, they are manageable while other times like genetic immune deficiency, you are left clueless and have no ways of correcting it.

What is Genetic Immune Deficiency?

We are all born with an immune system, which fights against various pathogens that can cause infections and make us sick. The immune system is active at all times and when it spots a foreign invader, it produces antibodies with the help of the white blood cells, to fight the foreign invader.

Now, for some, there could be a defect in this immune system that can make it less effective or sometimes even non-existent. When the immune system does not exist or is weak, it cannot effectively fight against infections to protect the body. This condition is known as immune deficiency.

There could be various reasons for an immune deficiency in a person. In many cases, it could be genetically inherited; meaning the child inherits this immune deficiency from one or both parents. When a defect in the immune system leading to immune deficiency is “inherited”, it is a genetic immune deficiency. To put it in simpler words, it is an immune deficiency that passes genetically through the parents’ DNA to the children.

Examples of Genetic Immune Deficiencies

According to the Immune Deficiency Foundation, there are over 400 primary immunodeficiency diseases (Immune deficiency diseases that are inherited or present from birth). Below are some of the most common genetic immune deficiency disorders an immunologist is familiar with. The minute you tell a child has any of these diseases, the first question will be if the parent has the disease. On most occasions, the parents of such children may be healthy and do not have any disease.

Some of the common genetic immune deficiencies are

X-linked agammaglobulinemia
Common Variable Immune Deficiency
Severe Combined Immune Deficiency (SCID)
Wiskott Aldrich Syndrome
Chronic granulomatous disease
Leukocyte adhesion defect

What Happens When a Child Has Genetic Immune Deficiency?

A child born with a genetic immune deficiency disease or disorder must undergo treatment to prevent any further damage. Getting rid of these diseases is not a simple task. Having said that, a bone marrow transplant can cure some of these conditions.

When a child has a genetic immune deficiency, they may show symptoms right away or in some time. A newborn has protection by the mother’s immunity for the first 2-3 months after birth. The baby’s immune system starts taking and improving only after this period. The child will start showing symptoms around this time and the symptoms can get worse as the child’s environmental exposures increase.

Once the doctor confirms a diagnosis of genetic immune deficiency, they will start the appropriate treatment. The treatment will mainly depend on the type of underlying disease and the age or immunity of the child. There is no permanent cure for some of these diseases. The child will be under continuous monitoring and will have to lead a lifestyle different from that of their peers.

Types of Genetic Immune Deficiency

Genetic immune deficiency is not restricted to just one disease. This deficiency can manifest in many ways. Genetic immune deficiencies can be inherited in many ways.

1. X-Linked Recessive Inheritance

A female has 2 sets of X chromosomes while the males have one X chromosome and one Y chromosome. The X-chromosome is mainly responsible for carrying the genetic information and thus passing the genes from one generation to the other.

When the X-chromosome carries the defect, it is called the X-linked recessive disorder. The mother will be the carrier of the disease as babies get their X-chromosomes from the mother. In females, since there are 2 sets of X-chromosomes, even if one carries the defective chromosome, there is another to make up for the defect. In males, since there is only one X-chromosome, there is no healthy X-chromosome to make up for the defect, thus affecting the child.

The carrier mothers are generally asymptomatic since they will have one set of defective X-chromosomes and one healthy set. So, it is not easy to identify the mother as a carrier until you see the disorder in the male child she gives birth to.

We can learn more about how the gene passes down from parent to child, later in this article.

Some of the common X-linked Recessive Inheritance conditions include

Wiskott – Aldrich Syndrome
SCID
X-Linked Agammaglobulinemia (XLA)
X-Linked Lymphoproliferative diseases
Chronic Granulomatous Diseases
Hyper IgM syndrome

[Read : Living With Severe Combined Immunodeficiency in Babies]

2. Autosomal Recessive Inheritance

This type of immune deficiency disorder can occur when the child inherits abnormal genes from both parents. This means the primary immune deficiency in the child cannot happen by just one abnormal gene. It needs two such abnormal genes.

Autosomal recessive inheritance affects both males and females equally. The parents can be carriers and healthy and pass it on to the child. Parents can be carriers if they have only one of the abnormal genes themselves. So, they will carry the abnormal gene but not its effects, meaning they won’t show any symptoms.

If the abnormal gene from the father passes through the sperm and fertilizes the egg with the abnormal gene, the embryo has 2 copies of the abnormal gene. This leads to autosomal recessive disorder.

This does not mean if both parents are carriers, the children will have an immune deficiency. As you will read later in this article, if the father produces healthy sperm and it fertilizes the healthy egg produced by the mother, it can result in a healthy child without any immune deficiency disorders.

Symptoms in Children With Genetic Immune Deficiency

When the mother is a carrier and has no symptoms whatsoever and her baby suddenly starts falling sick more often than other children their age, it can be quite puzzling.

Here are some of some symptoms that can indicate a possible genetic immune deficiency in a child.

Inability or difficulty fighting infections, which means they may not recover from infections as expected or might need to be on antibiotics longer than expected.
Frequent infections that are severe in nature and seem to last very long.
Difficulty in gaining weight as an infant.
Trouble growing up as expected.
Delayed development or delay in reaching certain milestones.
Inflammations, joint aches, and destruction of tissues like in autoimmune disorders.

Can Genetic Immune Deficiency be Prevented?

There is no proven way to avoid genetic immune deficiency if it is your first pregnancy. When it is your first child, you are clueless about the presence of such a disorder in your genes. There is no certain way to know your child will indeed inherit this disorder.

If you do have family members with such a disorder and have reason to believe your child might too, you can undergo carrier testing. Find out from your doctor if it is available for your condition. Alternatively, you can seek genetic counselling. The counsellor will be able to educate you on genetic immune deficiency and how it can affect the child and you as a family.

Preventing something like genetic immune deficiency is very difficult because there is no way of knowing which set of chromosomes the fetus will inherit. If it inherits the defective chromosome, it will have immune deficiency; if not, it can be a healthy baby. To understand why prevention is difficult, it is pertinent to understand how genetic immune deficiencies pass from one generation to the next.

Process of Inheritance of Genetic Immune Deficiencies

The mother can produce two types of eggs – one with the defective X-chromosome and one without. The father can produce 2 types of sperms – one with the X-chromosome and one with the Y-Chromosome.

When the sperm with X-chromosome fertilizes the egg with the defective X-chromosome, it will produce a female child carrying the defective gene. However, the female child would only be a carrier.
If the sperm with the X-chromosome fertilizes the egg with the healthy X chromosome, it will produce a healthy female child who does not carry the defective gene. So, the immune deficiency will not pass on genetically henceforth.
If the sperm with Y-chromosome fertilizes the egg with a healthy X-chromosome, it will produce a healthy male child without the defective gene.
If the sperm with the Y-Chromosome fertilizes the egg with a defective X-chromosome, it will produce a male child with a genetic immune deficiency as his only X-chromosome is defective. There is no healthy X-chromosome to balance the defect.

So, for parents who want to avoid passing the defective gene to their children, there are two in four chances that you may have a child without the defective X-chromosome. In the case of autosomal recessive diseases, both parents are carriers and the chance of an affected child with the defective gene is one in four.

There is no way of knowing which sperm will fertilize which egg. You cannot prevent genetic inheritance from happening, you can only check after the formation of the embryo with the help of genetic testing. Due to the advances in medical science, fetal medicine experts are now able to test the fetus and let us know if the baby in the womb is carrying the defective gene.

The following tests can help identify the presence of this condition in the fetus.

1. Chorionic Villus Sampling (CVS)

This is a prenatal test wherein a sample of the chorionic villi from the placenta is taken under ultrasound guidance. This sample undergoes testing for the presence of genetic immune deficiency.

[Read : All About Chorionic Villus Sampling (CVS)]

2. Amniocentesis

Amniotic fluid is the fluid that surrounds and protects a baby during pregnancy. This fluid contains fetal cells and various proteins. Amniocentesis is the procedure in which amniotic fluid is removed under ultrasound guidance and is tested. Genetic testing carried out on fetal cells in the amniotic fluid would determine if the fetus were affected.

In case the fetus has a genetic disorder, the family may decide to discontinue the pregnancy after discussion with the genetic counsellor.

Planning For a Second Child – Can I Prevent Genetic Immune Deficiency in My Second Child?

If you already have a child with genetic immune deficiency, you would definitely want to avoid it in your next child. Though there are limitations, it is possible to prevent genetic immune deficiency in your second child.

Here are a few ways in which you can try to avoid genetic immune deficiency in your second child.

1. Sperm Donor

If the genetic immune deficiency is linked to the X chromosome, a sperm donor can be used to avoid the defective sperm from the father. If the disease in the first child is from the father, help can be sought from a sperm donor. The sperm will then be used to fertilize the egg via the artificial insemination method.

2. Egg Donor

If the mother is the carrier of the defective gene, then an egg donor is a good alternative. Following the same artificial insemination procedure, this donor egg can be fertilized using the father’s sperm. The child will have the father’s sperm but not the mother’s egg; effectively avoiding her defective genes.

[Read : Using Donor Eggs – The Conception Alternative You Need to Know About]

3. IVF

If both father and mother could be carriers or if you are keen on using only your sperm and egg, you can try In Vitro Fertilization. In IVF the extracted eggs from the mother are fertilized by the sperms extracted from the father. Pre-implantation diagnosis helps identify the unaffected embryos. Once the IVF expert or technician identifies healthy embryos with no deficiencies, they will transfer them to the mother’s uterus.

The embryo attaches itself to the uterus, it will continue like any other regular pregnancy. However, this procedure is not an option for all with a genetic immune deficiency. Only certain cases can benefit from this highly invasive procedure.

Remember, just because you have a child with genetic immune deficiency does not mean your next child will have it too. As mentioned earlier, there is no way of knowing or controlling which sperm fertilizes which egg. It is all by chance. So, there are chances of a carrier mother or a father reproducing healthy children, without genetic immune deficiency. However, this is not a chance many would be willing to take, especially after having a child with the disorder.

How Do We Care For Children With Genetic Immune Deficiency?

When your child is diagnosed with genetic immune deficiency, you may not know what to do next. You may feel lost and helpless about what to do in general and how to specifically care for this child. Here are a few points to help you out:

1. Be Pro-Active

Since your child’s immune system is compromised, they will not be able to fight infections like other healthy children. The first and foremost step is to prevent infections from affecting the child.

Ensure they wash their hands well with soap.
Keep their surroundings clean.
Do not expose them to crowds where there is a possibility of catching an infection.
Do not allow people with infections to come close.
Teach them to lead a healthy and active lifestyle.
Add more nutritious and immunity-boosting foods to their diet.

2. Follow Up

You need to work with your child’s doctor and the health care system to ensure your child is always safe and treated quickly. Immune deficiency is a long-term ailment, and your child can get an infection at any time. You need to follow up with the doctors to keep track of the infections, treatments, and new treatments if any.

3. Empathize

Yes, it can be hard to nurture a child who may be ill very regularly. Try to understand how hard it is for the child. They cannot lead a normal childhood and will have to abide by all the restrictions. When they feel low, empathize with them and show them that you understand them and it’s not their fault.

4. Support Groups

Find a support group for such patients. Your health care provider must be able to help you out here. When you and your child interact with and hear other similar stories, it can be comforting. To know you are not alone in this journey and others are struggling just like you can be a big mental support.

5. Be There For Your Child

Always accompany them for their check-ups, scans, tests, etc. Do your best to not let them handle it alone. They may already feel alone as their peers lead a different and carefree life than them. So, leaving them alone to handle the complications can be very stressful and depressing for them.

Genetic immune deficiency is not something you can control. It is out of your hands and if a child is born with this disorder, they need to live with it. Some of these children can find a cure with a bone marrow transplant. Preventing the same disease in the next child is very important. With the help of fetal medicine and genetic experts, it is now possible to determine if the fetus is affected by the same disease in the next pregnancy.

FAQ’s

1. At What Age Does a Child’s Immune System Fully Develop?

All of us are born with an immune system that starts developing in the fetal stage. However, it is immature at the time of birth. A child’s immune system starts maturing at around 3 months of age. From then on, it’s an ongoing process, where the immune system learns as it encounters new pathogens.

2. How Can I Boost My Child’s Immune System Naturally?

There are no shortcuts to overcoming genetic immune deficiency. Instead of giving up completely, you can help boost your child’s immunity by including more foods rich in various nutrients. You can encourage them to lead an active and healthy lifestyle. Teach them to follow good hygiene practices in all walks of their lives as the best way to fight infections is to avoid them.

My Child Has a Genetic Immune Deficiency – Can I Prevent This Disease in My Next Child?