Wiskott–Aldrich Syndrome by Dr. Sagar Bhattad

WAS is an X-linked disorder, meaning it is a defect in the X-chromosome of the genes a child inherits from their parents. For this reason, this disease is common among boys. Boys inherit only one X chromosome, while girls inherit 2 X chromosomes.

So, when the boys inherit the defective X-Chromosome, they show symptoms and are affected by this genetic disorder. When a girl inherits this gene mutation, she has one mutated copy and one normal copy of the X-chromosome. So, they don’t show any symptoms but become “carriers” of the disease.

A child with WAS will experience difficulty with bleeding. A bleed will not stop or clot as easily as it would for other children. WAS causes a deficiency in the Wiskott–Aldrich Syndrome Protein (WASP). If the deficiency is high in WASP, the disease will be more severe.

Signs And Symptoms of Wiskott-Aldrich Syndrome

When a child gets hurt and bleeds, we normally clean the wound and let them carry on with their games. The young bodies will recover very quickly and the bleeding will stop in no time. However, when the bleeding does not stop, it is a red flag that something is wrong with the child.

Here are a few symptoms and signs that can indicate your child might have WAS:

• Recurring bacterial, fungal, or viral infections
• Eczema
• Frequent bleeds that don’t stop easily
• Frequent bleeds from the mouth, gums, or nose
• Mucosal bleeding
• Bruising or purplish patches on the skin caused due to bleeding under the skin
• Petechiae – red spots on the skin
• Abscesses, cellulitis, or impetigo (skin diseases)
• Blood covered diarrhea
• Low platelet count (only a test can confirm this)
• Autoimmune diseases

WAS is a genetic disorder, which means a child is born with the defective gene and does not contract it later. The symptoms may surface at varying times for different children.

Diagnosis of Wiskott–Aldrich Syndrome

When a child, especially a boy, seems to bleed more often than others and the body takes time to arrest the bleed, WAS must be considered as a possibility. WAS should also be thought of in boys who have repeated chest infections and skin allergies or eczema. WAS can be confirmed only with an analysis of the platelets, for which they need to be tested first.

Once the doctor suspects WAS, they may ask for the following tests to confirm the diagnosis:

1. Blood test to check the blood clotting agents and the platelets
2. Genetic test to check for the gene mutation that can cause WAS
3. Blood test to check if WASP (Wiskott–Aldrich Syndrome Protein) is absent in the white blood cells
4. Numerous other blood tests as required

Though the symptoms include recurrent infections and bleeds, the doctor cannot confirm WAS without blood tests. WAS is a defect in the white blood cells, hence a proper analysis of the blood is required for a diagnosis.

If you are a carrier of the WAS gene mutation, the chances of you passing it on to your child is very high. However, if your elder child or children are girls, they may not show any symptoms, though they can also be carriers. When you have a son, the symptoms may start showing.

So, it can be difficult to diagnose in the beginning as elder children did not show any symptoms. It is important to get genetic testing and gene counseling once you know you are a carrier.

Treatments For Wiskott–Aldrich Syndrome

Since WAS is an inherited disease, it cannot be prevented in the first child. One cannot be too sure the child will inherit the disease from their parents. Once the diagnosis is confirmed, the doctor may suggest the following treatment options.

1. Precaution Against Infections

Since WAS compromises the immune function and does not allow the white blood cells to protect the body effectively, the child will be more prone to infections. Children are born with no immunity and the immune system develops as they grow up and are exposed to various pathogens in the atmosphere.

Now, when the immune system is unable to produce antibodies for various pathogens, it requires external help. The child is at a high risk of contracting various infections repeatedly. So, you can:

Teach them to follow simple yet effective hygiene practices at all times

• Wear protective masks when they step out
• Avoid contaminated areas
• Advise them to not touch all surfaces unnecessarily
• Teach them to wash their hands well and ask them to follow it all times
• Inform about even the smallest bacterial or fungal infection and not ignore it
• Avoid going to crowded places or mingling with people with infections
• Avoid letting sick or infected people come close to them or touching them
• Follow up on all doctor check-ups and vaccinations as advised
• Look out for symptoms and telltale signs or any infection

2. Antibodies

The immune system is weak and unable to fight infections and foreign pathogens effectively. The B cells may not be producing sufficient antibodies to keep your child safe against infections. Your doctor might suggest infusing antibodies like immunoglobulin. This antibody can support the immune system and help it fight infections better. Your doctor will recommend this based on the severity of the disease and the extent to which the body is able to handle it on its own.

3. Vaccinations

Vaccinations offer acquired immunity to your child. The places where your child’s immune system cannot step up or produce antibodies are supplemented by these vaccines. Never miss a vaccine and even if you do, ensure you consult your doctor and get your child vaccinated. Vaccinations help the body fight strong pathogens, and diseases, the body cannot fight on its own.

4. Staying Safe

It is best to stay safe and guard your child to the best possible extent, from getting wounded or bruised. When a child with WAS gets wounded, the bleeding will take time to stop and this can not only scare your child but can also weaken them. You can help your child

• Avoid activities that involve rough play that can hurt them or cause bruising
• Wear a helmet, and other guards for other parts of the body, when they perform activities that can hurt them.
• Ensuring you avoid items that can cause an allergic reaction in your child
• If the immune system is very weak, corticosteroids can help fight allergies (this is not done regularly)
• Receive transfusions of the platelet if the infection is very bad and is spreading to other parts of the body (this is done only in case of emergencies)

5. Managing Allergies

In case of skin allergies, you can follow the doctor’s advice to keep it under control. You need to ensure your child does not feel the urge to scratch repeatedly as it can cause bruising and bleeding, which may not stop easily. You can avoid items that cause allergies and ensure all the adults around your child are aware of the allergies and how to respond to flare-ups.

5. Transplants & Transfusions

Since Wiskott–Aldrich Syndrome is a defect with the white blood cells, doctors may suggest a bone marrow or stem cell transplant. The platelets responsible for clotting, and the white blood cells responsible for immunity are produced in the bone marrow.

In a stem cell transplant, the doctors will take stem cells from a healthy individual who is a match for the child, and inject them into the child’s bloodstream. Now the child has healthy white blood cells that can produce antibodies and fight off infections.

When the new stem cells occupy the child’s bone marrow and develop into several different cells that regain complete function of the immune system, and produce new healthy platelets then the transplant is a success and the child can be cured permanently.

This treatment may not suit all children. It may be suggested depending on the following factors:

• The overall health of the child
• How good a match the donor is
• Age of the child – the younger they are, the better will be the success rate.

6.Removal of Spleen

In some serious cases where the abnormal platelets are coated in antibodies and trapped by the spleen, the doctors are left with no choice other than to remove that spleen. Removal of the spleen can help correct thrombocytopenia and eventually improve the platelet count.

The flip side to this removal is that the absence of a spleen can increase the chances of infections. The spleen filters out harmful bacteria. In the absence of this filter, the bacteria can attack the body more severely, thus leading to more health complications. Hence, the spleen is removed only if the doctors are left with no other choice.

Splenectomy will not cure the WAS. It will only help increase platelet counts to a certain extent.

7. Gene Therapy

This is still in the research phase but has some promising outcomes. If researchers are able to find a way to do this without any adverse effects, it can be a good option for such genetically transferred diseases.

Living With Wiskott-Aldrich Syndrome

If a stem cell or a bone marrow transplant has restored your child’s immune system, they may be able to lead a healthy normal life. Since there is no permanent cure for WAS apart from a successful stem cell transplant, you have to learn to live with the disease. Here is what you can expect for your child in the long run.

• Lifestyle changes to ensure better hygiene and safety like avoiding vigorous or risky physical activities
• Regular check-ups to keep track of the infection and to catch other infections at an early stage
• Getting medical attention for all infections at the earliest before it can get severe in nature or spread to other parts of the body
• Change in diet to ensure better immunity.

When Should I See A Doctor About Wiskott-Aldrich Syndrome?

All children have colds, coughs, and various other infections. If your child has just started walking and exploring, you may expose them to different environments and they are bound to have reactions until their immune system settles down.

Now, if your child seems to get sick repeatedly within a short span; or infections that do not seem to subside despite medications, then your child’s immune system is unable to fight the infection effectively. It may or may not be Wiskott-Aldrich Syndrome.

It is a good idea to consult a doctor in the following situations:

You have a family medical history of WAS and you notice symptoms in your child

Your child’s infections seem to be more severe and recurrent than they should at that age

Your child is having recurrent bleeding and/or skin allergies.

What Questions Should I Ask My Doctor About WAS?

When your doctor confirms your child indeed has WAS, here are a few questions you ought to ask them.

Q: What Happens in WAS?

Why – It is very important to understand how the disease can manifest in your child’s body. A parent should not confuse WAS with a weak immune system and take infections lightly. The child will not just have a delayed recovery time but may not be able to recover from certain infections, without external interference.

Q: Can You Have More Children?

Why – Wiskott-Aldrich Syndrome is a genetically passed disease. Male children are affected by it while female children carry it. It is important to understand if you can proceed to have more children who might carry the disease. Genetic counselling must be suggested for such parents. It can be prevented in the next child by antenatal testing.

Q: What Are The Underlying Infections Affecting Your Child Currently?

Why – You would have most probably gone to the doctor to find out why your child is having a recurring infection. After a WAS diagnosis, it is important to know more about the infection, its triggers, and how to control it.

Q: What Antibiotics or Antifungal Medications Should You Give Your Child in Case of an Infection?

Why – Though it is a good idea to always consult the doctor before administering medicines, in the case of Wiskott-Aldrich Syndrome, the child might get infected repeatedly and you cannot wait for an appointment every single time. The child needs treatment at the earliest, to stop the infection from spreading

Q: Should Your Child Get Any Extra or Different Vaccinations Than What is Advised in The Vaccination Record For That Age?

Why-If your child is under some treatment or is taking other medications to control some underlying infection, doctors may suggest postponing the vaccination or getting a higher dose of the same.

Q: Can Your Child Get a Bone Marrow Transplant?

Why – Replacing the defective cells with healthy ones from a donor will help restore the immune system. Bone marrow transplants are generally done for very young children, only if they are healthy enough for it and have a perfect match.

WAS is an inherited disease that may show up at any time. For some children, it can show symptoms before they turn a year old and for some, the disease can act up much later. No matter when the diagnosis is made, WAS is a difficult disease to live with. It can be hard on both the child and the parents to ensure they never get an infection. It requires a lifestyle change and some sacrifices from both parents and the child.

With extra caution and the right treatment, a child can live a good quality life despite WAS. They may not be able to do what other children their age do, but they need not live indoors, in fear of getting infected. One can do a lot of things despite WAS.