Finding out your child has Gaucher disease (pronounced go-SHAY) may have you feeling worried. The good news is that Gaucher disease type 1 is treatable, as are some symptoms of Gaucher disease type 3. Your child can enjoy a full and active childhood, and you do not have to struggle alone.
Diagnosing Gaucher Disease in Children
Some of the symptoms of Gaucher disease people notice first are bleeding issues, easy bruising and a swollen belly due to an enlarged spleen and/or liver. However, most pediatricians are not aware of Gaucher disease, so it is important to ask for testing if your child is at risk.
Testing for Gaucher disease involves a standard blood test called a beta-glucosidase leukocyte (BGL) test available at a hospital or doctor’s office. If one of your children has Gaucher disease, doctors should test your other children as well.
While Gaucher disease can affect people of all ethnic backgrounds, the disease is especially common in Ashkenazi (Eastern European) Jewish people. Experts estimate the disease affects 1 in 450 in this population, with up to 1 in 10 being carriers who do not have the disease but can pass the Gaucher gene to their children. Learn more about Gaucher disease inheritance and genetics.
Your Child’s First Infusion: What to Expect
Enzyme replacement therapy (ERT) is the standard treatment for children with Gaucher disease types 1 and 3. This treatment involves intravenous (IV) infusions to replace the enzyme missing in patients with Gaucher disease. Your child will need an IV infusion about every 2 weeks.
When you arrive at the infusion center, you may need to wait up to an hour for staff to prepare the medication. Each treatment is very expensive, so infusion centers cannot take the chance of wasting a dose if patients miss their appointment. Some will start the preparation if you call ahead.
When the medication is ready, a nurse will insert a small needle into your child’s arm or hand. If your child has a port (a long-term access point for an IV), a nurse will insert the needle under the skin into the port. Most infusion centers use a cream that makes the needle insertion less painful. The infusion process takes 1 to 2 hours. You may want to bring books or other activities for waiting, both before and during the infusion.
Helping Your Child Relax for an ERT Infusion
Children may need some help relaxing before and during an infusion. Some ways you can help encourage them to relax include:
- Play doctor: You can let your child give you or a stuffed animal a pretend shot before it’s time for the nurse to insert the IV.
- Deep breathing: Tell your child to breathe in deeply and exhale slowly. You can even have your child blow bubbles while the IV is inserted for deeper breathing.
- Distraction: It may be easier for your child to relax if you distract him or her with something like a song, a joke or even a story. You could also ask about the best thing that happened that day to help your child focus on something more pleasant.
What to Bring to Your Child’s Infusion
ERT treatments involve a lot of waiting, both while medical professionals prepare the infusion and during the infusion itself.
To make the process easier on your child, you might consider bringing items such as:
- Tablet or smartphone: Your child may enjoy watching movies, listening to music or playing games on an electronic device while waiting.
- Books: Reading a book is a great way to pass the time, whether your child reads independently or if you read a story out loud.
- Homework: Infusion appointments can be a good time to get homework done without a lot of other activities competing for your child’s attention.
- Comfort items: Having a blanket, pillow or even a favorite stuffed animal can make the infusion more comfortable for your child.
Home Infusions for Your Child
Some families find that home infusions are more convenient and improve quality of life. A home health nurse helps administer the infusion, allowing your child to get treatment in the comfort of home. Learn more about home infusions for enzyme replacement therapy for Gaucher disease.
Talking to Your Child About Gaucher Disease
It can be difficult talking to young children about Gaucher disease, and your child may have questions. Your answers should depend on your child’s age and maturity level, focusing on simple yet honest answers. Reassure your child that everyone is different, and Gaucher disease does not change who they are inside.
If your child is distressed by the infusion process or other challenges of living with Gaucher disease, a child therapist can help. You can also connect with others to get support from parents who have dealt with these very issues.
Your Child’s Life with Gaucher Disease
Thanks to ERT, many children with Gaucher disease can live full and active lives. Even so, some children may face restrictions based on physical limitations or needing to stick to infusion schedules.
Because each child’s needs are unique, it is important to discuss your child’s activities with your Gaucher specialist. Most children with Gaucher disease can:
- Play sports
- Join in other activities like school plays or dance classes
- Go to sleepaway camp
- Participate in planned vacation activities with the family
Even with treatment, living with Gaucher disease may weigh on your child, whether from symptoms like pain and fatigue or simply feeling different from others. A counselor or social worker can be instrumental in helping your child sort out these complex feelings. Find out more about creating a Gaucher disease treatment team that addresses your child’s physical and emotional needs.
