Speak up: Talking to your doctor about gene therapy

Last updated June 3, 2024, by Susie Strachan
Fact-checked by Patrícia Silva, PhD

Gene therapy for hemophilia B represents a promising approach in treatment options for this inherited bleeding disorder.

By introducing a functional version of the defective gene responsible for hemophilia B, gene therapy can reduce symptoms significantly and even offer hope of a potential cure.

Before talking to your doctor about whether gene therapy may be an option for you or your child, it may help to first learn more about it.

Treating hemophilia B

Hemophilia B is caused by mutations in the F9 gene, which provides instructions for making clotting factor IX (FIX). Symptoms may be mild, moderate, or severe depending on FIX activity levels.

Treatment for hemophilia B typically involves replacement therapy, consisting of intravenous (into-the-vein) infusions of the FIX protein. This can be used as both a preventive measure (prophylaxis) and for treatment of bleeding episodes.

In recent years in the U.S., the field of gene therapy has made significant advancements, culminating in approvals for hemophilia B treatment. The goal of these one-time treatments is to improve clotting factor activity to protect against bleeding.

Discussing with your healthcare provider

Whether you’re living with hemophilia or are a caregiver for a child with hemophilia B, it’s important you feel comfortable talking to your doctor.

Equipping yourself with knowledge is crucial for advocating for your hemophilia B healthcare, especially if you want to ask to consider trying a new treatment like gene therapy.

Learn about gene therapy

Read as much as you can about the benefits of gene therapy for hemophilia B from reliable sources such as the following:

Hemophilia News Today has up-to-date information on several treatments, including gene therapy for hemophilia B.
Clinicaltrials.gov maintains a list of current clinical trials and completed studies in gene therapy for hemophilia B.

The World Federation of Hemophilia has a video that explains gene therapy for hemophilia A and hemophilia B. According to the video, FIX levels typically increase in three to four weeks after treatment. In some cases, prophylactic treatments can be stopped. It notes that reactions to gene therapy vary among people with hemophilia B.

You also may wish to learn more about the general basics of gene therapy. The U.S. Food and Drug Administration offers an introduction on how gene therapy can cure or treat diseases. It explains how your genes affect your body, including what happens if you have a missing or defective gene.

Ask questions

Next, make a list of questions about hemophilia B gene therapy during your healthcare consultation. Examples might include:

Am I a qualified candidate?
What are the potential benefits or risks?
How is gene therapy administered?
What is the expected recovery time?
Will I need to continue other treatments after having gene therapy?
How much will gene therapy cost and does health insurance cover it?

Set goals for the appointment

Whether you’re talking with your primary doctor or meeting with a hemophilia B genetics counselor, it helps to do some prep before your appointment.

Think about your goals for the appointment. For example, are you in the early stages and just trying to understand gene therapy for hemophilia B, or are you hoping to be considered for this treatment? Or maybe it’s both.

If you feel rushed during the appointment, ask for more time or consider scheduling a follow-up appointment to continue the discussion.

You may want to bring a support person with you to the appointments, such as a friend or family member. They can help you stay focused on your goals and help you process what was said afterward, especially if you are feeling overwhelmed by complicated healthcare information.

Another option is to take notes in a notebook or a smartphone during the appointment to help with remembering next steps and other recommendations and details. You also can ask the doctor if you can record your conversation so you can refer back to it as needed.

Communicate better with your doctor

Healthcare professionals may use complicated medical terminology when discussing gene therapy, especially when explaining next steps and other instructions about the treatment.

If you are having problems with the terminology being used or aren’t sure you are understanding everything, ask for clarification. Doctors should not mind when you ask questions — it shows that you are engaged and invested in your healthcare.

Also, don’t be hesitant to share your concerns with your doctor.

Try to be clear and concise in communicating your symptoms, experiences with managing your hemophilia B — what has worked and not worked for you — and goals for having gene therapy treatment.

Be an active participant in treatment planning

Working with your doctor to determine the most suitable gene therapy treatment plan usually involves:

communicating your objectives
asking about hemophilia B treatment options and potential side effects
taking into account how the proposed treatment plan may affect your daily life, as well as other people in your life such as caregivers and family
seeking input from other healthcare professionals for further insight.

Ask your healthcare provider if they can provide you with more information or resources about gene therapy for hemophilia B.

Advice for the newly diagnosed

For a person or parent facing a new hemophilia B diagnosis, it can be helpful to connect with the hemophilia B community and patient advocacy organizations for support and guidance, including advice about how to bring up gene therapy with your doctor.

Online or in-person support groups are a great way to feel more connected to community support and talk with others who have hemophilia B or are caregivers for someone with the disease.

People in support groups may be able to share their experiences with treatments including gene therapy for hemophilia B, whether they are considering it or have received it.

You can connect with the hemophilia B community through the following:

Hemophilia News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.