FDA Approves Gene Therapy: A Rare Disease Parent Advocate Reflects on Hope and Challenges Ahead

Today, I want to share with you the mix of emotions that have flooded my heart as a 15-year rare disease parent advocate.

On December 8, 2023, the FDA approved 2 gene therapy treatments for sickle cell disease (SCD), and this breakthrough news has left me both hopeful and disheartened.1

The FDA's landmark decision

The approval of these cell-based gene therapies, Casgevy and Lyfgenia, is groundbreaking.

It is not only the first time gene editing has been approved for a human illness in the United States, but it also the first time a discovered genetic disorder has received such recognition.1

The potential to transform lives is undeniable, but accessibility for all remains a daunting challenge.

This or That

Is there an FDA-approved treatment for your rare disease?

Mixed emotions as a 15-year rare disease parent advocate

As a rare disease parent advocate, my journey has been filled with ups and downs. While my daughter, who lives with sickle cell disease, does not currently meet the criteria for gene therapy, I cannot help but be filled with hope for the countless families who will benefit from this advancement. The promise of a potentially curative therapy is a dream come true for many who have endured the devastating impact of SCD.

What is sickle cell disease?

Sickle cell disease (SCD) is a genetic disorder characterized by abnormal red blood cells with a crescent shape. It is considered a rare disease in the United States because it is estimated that 100,000 people are affected. This chronic condition primarily affects individuals of African, Mediterranean, Middle Eastern, and South Asian descent.2 

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It causes a range of symptoms, including severe pain episodes known as vaso-occlusive crises, stroke, loss of hearing, eyesight, anemia, organ damage, avascular necrosis, splenic sequestration crisis, and an increased susceptibility to infections.3

Although significant progress has been made in SCD research and treatment, there is still much work to be done to provide better care and support for those living with this complex condition. Isn't it ironic that over 100 years after the first reported case of sickle cell disease, the first gene therapy treatment to be approved in the United States is for sickle cell disease?

My personal journey as an SCD caregiver

Through my advocacy work, I was honored to share a letter at the FDA hearing on "Cellular, Tissue, and Gene Therapies Advisory Committee Hearing."

I conveyed the struggles my daughter has faced throughout her life, the constant worry about her health, and the impact it has had on our family. From vaso-occlusive crises to a subsequent diagnosis of type 1 diabetes, her journey has been marked by both pain and resilience.

As my daughter grows into adulthood, my fears intensify. The progressive nature of sickle cell disease in adults, coupled with the complications that arise from prolonged oxygen deprivation in various organs, is a daunting reality.4

Gene therapy does not reverse severe complications that have occurred, but gene therapy represents our best chance of hope. It is our most viable option to witness my daughter achieve milestones that should be given to every child.

A mother's hope for her daughters

In addition to my daughter, I also think about her twin sister. It is crucial that she has the same opportunities and chances in life as her sibling. That's why the new therapies hold so much promise.

But even with this glimmer of hope, the reality is that accessibility to these treatments is not guaranteed for everyone who lives with sickle cell disease. Prom, driving lessons, college, and a fulfilling career are aspirations I hold for both of my daughters, and gene therapy could be the key to making them a reality for my daughter, who is living with sickle cell disease.

But what about accessibility for all?

The substantial expense of over $2 million may dissuade families from contemplating the treatment. At Children's National Hospital in Washington, D.C., insurance coverage was a factor that led to the first patient in the world beginning gene therapy in May 2024.5

In addition, it is not likely that the vast majority of individuals living with sickle cell disease will not be eligible because they may not meet the treatment criteria, which are determined by their primary hematologists. We also must acknowledge that great news does not automatically translate into equal access for all individuals faced with rare diseases.6,7 

As a parent advocate, it is my duty to continue raising awareness, advocating for policy changes, and fighting for affordable and accessible treatments for all those affected by rare diseases. The approval of these gene therapies is undoubtedly a step in the right direction, but we cannot rest until every person has equal opportunities for a healthier future.

Ensuring equal health opportunities for all

Today, I share my fears, excitement, hope, and determination. Together, let us continue the fight for a future where the promise of gene therapy becomes a reality for everyone.

The reality is that while I celebrate this milestone in the treatment of sickle cell disease, my heart aches for those, like my daughter, who cannot immediately benefit from these advancements. We must strive for a healthcare system that prioritizes the needs of all individuals, leaving no one behind in the pursuit of better health.

This approval is a baby step in the right direction to help people with rare diseases receive health equity.

What about you?

How do you feel when you hear about FDA approvals? Can you relate to this experience of witnessing new therapies for a rare disease that affects you? Do you stay tuned in to news on clinical trials and potential approvals? Let us know in the comments below.

Treatment results and side effects can vary from person to person. This treatment information is not meant to replace professional medical advice. Talk to your doctor about what to expect before starting and while taking any treatment.
This article represents the opinions, thoughts, and experiences of the author; none of this content has been paid for by any advertiser. The RareDisease.net team does not recommend or endorse any products or treatments discussed herein. Learn more about how we maintain editorial integrity here.

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