If you are a teen living with Gaucher disease (pronounced go-SHAY), you face some unique challenges. Not only do you have to juggle schoolwork, activities and post-graduation planning, you also have to start learning how to manage your own health.
Taking Charge of Your Health
As you get older, it is important to start being an advocate for your own health. You will want to include your parents along the way so they can help you make informed health decisions.
Key steps to consider taking include:
- Understanding your medication: Know which medications you take for various issues, as well as how much and how often to take them.
- Identifying your medical issues: As a young adult, you want to be able to talk about your major medical issues with any doctor you may need to see.
- Planning your appointments: Get involved in scheduling your own appointments, considering your school and activity schedules to avoid conflicts. It is also a good idea to start carrying a copy of your health insurance card.
- Visiting doctors independently: At some point, you will probably want to meet with your doctor on your own without a parent around. Depending on your age, your parents may also let you travel to and from appointments alone.
ERT Infusion Tips for Teens
If you have received ERT infusions since childhood, the process may not be a big deal to you anymore. However, if you are newly diagnosed, you might be a little freaked out about getting an intravenous (IV) infusion.
Here are a few tips to help make your infusion easier:
- Take deep breaths: Deep breathing can help you relax while the nurse inserts the IV.
- Distract yourself: Focusing on something else can help you relax, whether it’s listening to music or texting a friend. Just make sure you are not holding your phone with the hand the nurse needs for your IV.
- Pass the time: It can be boring waiting for staff to prepare your infusion and sitting around during the infusion. Be sure to take something along to pass the time like homework, a book or a tablet for watching movies.
If you do not like going to an infusion center, you might find that home infusions provide more flexibility. Learn more about home infusions for enzyme replacement therapy for Gaucher disease.
Participating in Sports and Activities
With proactive management of Gaucher disease, many teens lead busy and active lives. That said, you may need to consider physical limitations or the need for infusions when it comes to activities. Many people with Gaucher disease still participate in activities like:
- Extracurricular activities like theater and dance
- Working or studying away from home
Having Gaucher disease does not have to totally interfere with your life. The important part is talking about your plans with your care team so you can limit any impact on your health.
Dealing with Gaucher Disease
The reality of living with Gaucher disease may weigh you down at times. For instance, having to make your infusion appointment every 2 weeks can be a bummer, especially if it means missing fun activities or important events.
It is important to remember that Gaucher disease does not define you. Many teens find talking to a counselor can help them sort through issues like school, parents, living with Gaucher disease and feeling different from others. You may also find it useful to connect with others who are dealing with the same issues around Gaucher disease.
Transitioning to College and Adulthood
As you get ready to leave home, you will have to learn how to manage your treatment on your own. Key issues to consider include:
- Sticking with treatment: It is extremely important to remember that stopping treatment just because you feel better can lead to severe problems.
- Accessing doctors: You may need to consider staying close to a Gaucher specialist as you decide where to go to school or study abroad.
- New treatment options: Once you are 18 years old, you may have the option of switching to substrate reduction therapy (oral medication) for Gaucher disease. You can talk to your Gaucher specialist about making the switch.
Substrate Reduction Therapy (SRT) for Young Adults
Oral SRT is approved only for adults 18 years of age and older. Many people find the oral medication more convenient than regular intravenous (IV) infusions. Before making a change, it is important to consult with your Gaucher specialist to weigh the pros and cons of switching medications.
Pros of SRT
Advantages of taking SRT include:
- Convenience: The ability to take a pill instead of going to an infusion center may make it easier for to stay on your medication. Locating a prescription center and Gaucher specialist nearby can be an added challenge for college-bound students.
- Less invasive: SRT doesn’t require an IV or port, a type of long-term access point that many people use for infusions.
- Consistent dosage: While patients receive ERT only every couple of weeks, SRT provides a more consistent dose over time. Some patients feel fatigued right before their infusion and feel best in the first few days after.
Cons of SRT
Disadvantages of SRT include:
- Side effects: Some drugs may have unpleasant side effects such as diarrhea and stomach problems.
- Drug interactions: SRT medications can interact with antibiotics, cardiac drugs and antidepressants and other medications such as stimulants for attention deficit disorders. However, you can stop taking SRT for 5 to 10 days if you need to take antibiotics.
- Sticking to your treatment plan: If you experience side effects or feel better, you may be more likely to stop taking your medication. However, it’s crucial to your health to continue taking your medicine regularly. Talk to your doctor about managing unpleasant side effects.
Learn more about substrate reduction therapy for Gaucher disease.