SingaporeMotherhood | Baby & Toddler

November 2023

Gaucher Disease: Rare, but Dangerous, especially for Infants and Children

By June Wan

Children often complain of fatigue, shortness of breath, and abdominal pain. But these complaints could indicate something more dire — like Gaucher (pronounced go-SHAY) disease — if they are accompanied by a distended tummy that makes your little one look pregnant.

Gaucher is one of 7,000 rare disorders known globally. A rare disorder affects fewer than one in 2,000 people. Nearly 80 per cent of rare diseases are genetic in nature, such as Gaucher disease. As such, there are no conditions that would make a child more susceptible to Gaucher disease.

While Gaucher is rare, its impacts can be devastating and even fatal if patients do not receive timely and appropriate medical help. With Gaucher occurring in newborns and infants, and its symptoms being common even among healthy children, how do we know if it’s something more? In the light of Gaucher Awareness Month in October, Dr Mildrid Yeo, Consultant, Genetics Service at KK Women’s and Children’s Hospital, tells us more about this rare disease.

(See also: INS AND OUTS OF GASTROENTERITIS IN BABIES AND CHILDREN)

How common is Gaucher disease?

While there are no official local specific statistics on Gaucher disease, globally, Gaucher affects approximately 1 in 100,000 people.

Why does it happen?

Gaucher disease occurs when the body has insufficient or non-functioning enzyme known as glucocerebrosidase. This enzyme is important for the breakdown of certain fatty substances in the body.

When the enzyme is lacking or not functioning well, this fatty substance accumulates in various organ systems such as the bone marrow, spleen, and liver. As it accumulates, these organ systems suffer damage. This can result in anaemia, as well as increased susceptibility to infections, a tendency to bleed or bruise easily, and bone pain/fractures.

(See also: POSTURE PERFECT: 3 WAYS TO HELP YOUR CHILD STOP HUNCHING AND SLOUCHING)

How will I know if my child’s symptoms are something that I should be concerned about?

The symptoms of Gaucher disease can mimic more common diseases. Look out for shortness of breath, fatigue, and abdominal discomfort.

It is important to seek medical attention if you notice that your child’s tummy is getting progressively distended, like a pregnant belly.

Also keep an eye out for pallor (pale, and unhealthy looking), recurrent infections, and easy bruising. Another red flag is complaints of significant bone pain.

Is Gaucher disease life-threatening?

If there is no treatment for the symptoms, life-threatening complications can happen, like infection and bleeding tendencies. For instance, if a patient’s bone marrow is affected due to the accumulation of fatty substances, it can interfere with their blood ability to clot.

(See also: 10 EFFECTIVE WAYS TO HELP YOUR CHILD COPE WITH STRESS)

What treatments are available in Singapore?

For certain types of Gaucher disease, enzyme replacement therapy is available. This involves fortnightly intravenous infusions administered in a hospital setting.

In addition there is a newer treatment — substrate reduction therapy. However, this currently only has approval for adults by the FDA.

These treatments are life-long, and used with the objective of managing the symptoms of Gaucher disease. They do not cure the disease.

Treatment must be expensive.

Treatment costs are high. However, there is support available for patients and their families such as government grants and the Rare Disease Fund (RDF).

Can my child have a normal life after diagnosis?

Life after diagnosis will certainly be different, and it will involve a period of adjustment. Depending on the severity of symptoms as well as treatment options, there may be more visits to the hospital for specialist care.

With some lifestyle adjustments and treatment, patients with Gaucher disease can prevent or improve signs and symptoms, and reduce the risk of organ damage. Many patients live full and active lives.

(See also: WHY CHILDHOOD VACCINATIONS MATTER)

What should I do after my child’s diagnosis?

You may not suspect the diagnosis, or it may serve to confirm your suspicions. For some parents, the news can be overwhelming, and for others it may be a source of relief as they have finally arrived at a diagnosis.

Regardless, receiving a diagnosis of Gaucher brings significant change for the family. There will be more specialist doctor appointments, and hospital visits for clinical treatments and surveillance. Allow yourself a period of adjustment, and seek out support if you feel overwhelmed, even as you continue to support your child.

You can also seek support and camaraderie from community groups such as Rare Disorders Society Singapore (RDSS) and Club Rainbow (Singapore).

What should I do if I suspect that my child may have Gaucher disease?

Use the Symptom Matcher at areyourare.sg to understand your child’s risk for Gaucher disease. You will have to fill in a simple form about the symptoms you observe in your child. While this is not a diagnosis tool, it allows parents to better understand the risk and use these results to kickstart conversations with their doctors. To obtain a proper diagnosis, you will need to bring your child to a healthcare professional.

Featured image: Image by jcomp on Freepik

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