We talk a lot about common health conditions such as cancer, diabetes, and high blood pressure. As young parents, you probably invest so much time and energy into keeping these at bay, and constantly check for symptoms.
That’s great. But what we do not pay much attention to are rare diseases. They may be unfamiliar to many of us but are an everyday reality for patients and caregivers. Rare diseases are diseases, nonetheless.
“Rare diseases, as the name suggests, are conditions that affect a very small number of people,” said Dr Mildrid Yeo Li Wen, a consultant at the Department of Genetics at KK Women’s and Children’s Hospital.
“In Singapore, we have defined them as diseases that affect fewer than one in 2,000 people. There are more than 7,000 different rare diseases identified worldwide.”
One of the rare diseases that can affect young children is Gaucher disease. While it affects one in 100,000 people globally1, the effects of having this condition undiagnosed in children can be life-threatening2. Gaucher disease symptoms start out mild, but it worsens as the condition progresses2.
For Gaucher Awareness Month in October, we want to shed light on this rare disease that can affect children of all ages. Here’s how you can find out more about the symptoms of Gaucher Disease and provide the intervention and care your child needs as early as possible.
Table of Contents
What is Gaucher Disease?1,2
Gaucher (go-SHAY) disease is a rare inherited disorder where the body has an 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, there is an accumulation of these fatty substances in various organ systems, such as the bone marrow, spleen, and liver.
As it accumulates, damage is done to these organ systems and can result in anemia, as well as increased susceptibility to infections, bleeding tendencies, and bone pain or fractures.
Gaucher disease is a genetically inherited disorder, and as such, there are no conditions that would make a child more susceptible to Gaucher disease.
One of the common myths about rare diseases is that they only present early in life.
This isn’t always the case, though. Gaucher disease can develop at any time, and some people might not receive a diagnosis until they are adults.
Gaucher Disease Symptoms
Some of the symptoms of Gaucher disease in children include bleeding, easy bruising, and a swollen belly due to an enlarged spleen or liver.
Gaucher disease is a rare disorder and can present with a variety of symptoms that can mimic more common diseases.
According to Dr Yeo, it is important to seek medical attention if parents notice that their child’s tummy is getting progressively distended or bloated. She advises parents to look for pallor (paleness), recurrent infections and easy bruising and complaints of severe bone pain from the child.
If you are worried that your child has persistent symptoms suggestive of Gaucher disease, the first step you can take is to bring your child to his/her pediatrician.
Why Is Diagnosis for These Rare Diseases Tricky?
Rare disease diagnosis is never simple. When evaluating a sick child, pediatricians might not be aware of certain conditions or may not immediately associate the symptoms with a rare disease.
Rare diseases and their symptoms can have an impact on a child’s education, development, and quality of life. Parents and other caregivers for a sick child may feel as though they are on an endless journey in the absence of a diagnosis, disease management guidelines, or support.
Indeed, determining the child’s problem may lead to stress, anxiety, sadness, and burnout for the caregiver.
“Early diagnosis of Gaucher disease is important as there are treatments available that can help control and improve symptoms,” shared Dr Yeo.
A Parent’s Struggle
Caring for a sick child while navigating the challenges of a new diagnosis, and feelings of self-doubt coupled with emotional stress is something that many parents grapple with.
“A family new on this journey is often faced with uncertainties, self-doubt, and guilt. They race against time to seek treatment options, hoping to provide their children with the best intervention and life outcome,” shared Mr. Phua Wee Seng, Chief Rare Advocate at the Rare Disorders Society (Singapore) (RDSS) and father of a child with rare disease.
“This journey is often long and challenging, we need to keep healthy physically and mentally to provide the best care for our children,” he said.
Established in 2011, RDSS is an IPC-status* charity with a mission to improve the lives of patients living with rare diseases.
“RDSS provides the information and psychosocial support to help these parents navigate our healthcare system, and cope with their anxiety thereby empowering them with the confidence to care for their children with rare diseases,” explained Mr Phua.
“The child with rare disease is still the labour of our love, we should strive to be the best parents we can be to them, learn to embrace their unique strengths and abilities and live as normally as we can to build beautiful and lasting memories for the family,” he added.
*IPC: Institution of Public Character is an exempt or registered charity that is able to issue tax deductible receipts for qualifying donations to donors.
How to Bridge the Gap
Parents, just because you don’t hear of it doesn’t mean it doesn’t exist. It always helps to have the right knowledge and tools to help diagnose your child.
An early diagnosis improves quality of life and increases the likelihood of successfully treating or managing the disease, as it does with any other illness or health issue.
To help accelerate the rare disease diagnosis journey for patients, Takeda Pharmaceuticals (Asia Pacific) Pte. Ltd. has launched a Symptom Matcher tool, which analyses a variety of symptoms and determines the risk level of having an undiagnosed genetic condition, such as Gaucher disease.
This online tool, available at no cost, directs users to answer general questions about their health, personal information, and the symptoms they are currently experiencing. Subsequently, the tool identifies genetic conditions that could potentially account for the presented symptoms.
At the end of the assessment, users will receive a detailed report indicating their risk level for such conditions, which they should share with a healthcare professional, if they have any concerns. Additionally, the Symptom Matcher website offers a directory of healthcare institutions offering genetic testing and counselling services that you can contact for further guidance.
Learn more about this tool at IsitGaucher.sg.
Awareness is Key!
We hope that you now have better insights on Gaucher disease. It may be rare, but it exists. As such, it’s important to promote more awareness of this disease so that parents can look out for symptoms and seek medical advice as early as possible.
Knowing where to seek help can save you from much trouble and uncertainty in the event your child has such a condition!
This article is sponsored by the “Are You Rare?” campaign, an educational campaign on rare diseases by the Rare Disorder Society Singapore (RDSS) and Takeda Pharmaceuticals (Asia Pacific) Pte. Ltd. It aims to raise awareness about rare diseases and accelerate the diagnosis of patients with Gaucher disease and Fabry disease.
To find out more about the Rare Disorders Society (Singapore) and how it supports patients and caregivers, please visit www.rdss.org.sg.
The campaign also aims to rally support for the rare disease community in Singapore. Learn more about the campaign, visit areyourare.sg.
This article is only intended for the general audience in Singapore.
This information is available for public information purposes only; it should not be used for diagnosing or treating a health problem or disease. It is not intended to substitute consultation with a healthcare provider. Please consult your healthcare provider for advice.
References
- Bethesda (MD). (1998). Gaucher disease . National Center for Biotechnology Information (US). https://www.ncbi.nlm.nih.gov/books/NBK22242/
- Gaucher disease. Cleveland Clinic. (n.d.). https://my.clevelandclinic.org/health/diseases/16234-gaucher-disease
C-ANPROM/SG/GAUD/0058 Oct 2023
Here at theAsianparent Singapore, it’s important for us to give information that is correct, significant, and timely. But this doesn’t serve as an alternative for medical advice or medical treatment. theAsianparent Singapore is not responsible for those that would choose to drink medicines based on information from our website. If you have any doubts, we recommend consulting your doctor for clearer information.