A Mother’s Quest: Hope and Breakthroughs in Hunter Syndrome Treatment

A mother’s advocacy illuminates the journey toward more hopeful care for rare diseases.

By Sneha Tete, Integrated MA, Certified Relationship Coach

Created on Sep 22, 2025

A mother’s advocacy illuminates the journey toward more hopeful care for rare diseases.

A Mother’s Journey: Facing Hunter Syndrome Head-On

When Emily Lieber’s son was diagnosed with Hunter syndrome, her world changed in an instant. This rare genetic disorder, also known as mucopolysaccharidosis type II (MPS II), set Emily’s family on a journey through uncertainty, heartbreak, and determined advocacy in search of hope and a cure.

Understanding Hunter Syndrome: The Basics

Hunter syndrome is an inherited metabolic disorder caused by a deficiency of the enzyme iduronate-2-sulfatase (I2S). Without enough of this enzyme, certain complex sugars (glycosaminoglycans) accumulate, leading to progressive physical and neurological problems. Symptoms typically appear in childhood and can include:

For families facing similar challenges with rare conditions, it's invaluable to hear real stories of resilience and hope. Discover the inspiring journey of Jonah Williams, a child living with Epidermolysis Bullosa, and how his family battles for awareness and support. This compelling narrative provides insights and lessons applicable to all rare disease advocates and caregivers. Don’t miss the chance to read Jonah's powerful story and the fight for awareness.

Coarse facial features
Stiff joints and limited mobility
Hearing loss
Enlarged liver and spleen
Developmental delays and cognitive decline
Frequent respiratory and ear infections

The severity and progression vary—but without effective treatment, the disease is life-limiting, especially in cases with neurological involvement.

Emily’s Story: The Search for Answers

Emily Lieber’s experience is emblematic of many parents of children with rare diseases. After months of doctor visits, vague symptoms, and unanswered questions, the diagnosis brought both relief and fear—the relief of having a name, and the fear of its implications. She quickly realized that many health professionals had little familiarity with Hunter syndrome, leading her to become an advocate and researcher for her son’s care.

Emily’s story isn't unique; many families find themselves in similar positions of confusion and fear. For example, Georgia Bowen’s family faced the unpredictable journey of a pediatric heart condition. Their advocacy and experiences shed light on critical emotions and challenges that parents endure when navigating rare diseases. Learn more about Georgia's heartfelt journey and the future of pediatric heart care.

Living with Hunter Syndrome: Daily Challenges

The Lieber family’s daily life revolves around adapting to the challenges posed by Hunter syndrome. Some of the recurring hardships include:

Frequent medical visits and therapies
Administering medications and monitoring symptoms
Managing behavioral and developmental issues
Advocating for educational accommodations
The emotional toll and uncertainty of the future

Despite these obstacles, Emily remains focused on providing her son with the best quality of life.

Current Treatments: Incremental Progress, Lingering Gaps

At present, there is no cure for Hunter syndrome, but several treatment approaches have been developed to address symptoms and slow disease progression.

Just as families confront the complexities of Hunter syndrome, Lisa Brown’s battle with Gastroparesis highlights the struggles of rare illnesses. Her story illustrates the emotional and logistical hurdles faced by caregivers and patients alike. To understand the broader impact of these challenges, dive into her inspiring narrative about facing Gastroparesis and the fight for better care.

1. Enzyme Replacement Therapy (ERT)

The most established therapy is enzyme replacement therapy (ERT), which involves intravenous infusions of synthetic I2S. The main ERT for Hunter syndrome is Elaprase (idursulfase), approved by the FDA in 2006.

Benefits include improvements in physical symptoms—such as joint mobility and organ enlargement—but a major drawback is that Elaprase cannot cross the blood–brain barrier. As a result, it has little effect on neurological symptoms, leaving families searching for better options .

2. Hematopoietic Stem Cell Transplantation (HSCT)

HSCT involves transplanting blood-forming stem cells from a healthy donor to the patient. These new cells can produce the missing enzyme and migrate into the brain, potentially improving neurological outcomes.

However, HSCT is invasive, requires a compatible donor, and carries significant risks such as rejection and infection. It is generally reserved for selected patients, particularly those diagnosed very early .

Understanding the implications of treatments for various conditions is crucial. For instance, navigating essential questions about Alzheimer’s disease can provide insights applicable to families dealing with any chronic illness. Explore the frequently asked questions about Alzheimer’s disease answered for a deeper understanding that might resonate with your personal experience.

3. Symptom Management and Support Services

In addition to disease-specific therapies, patients benefit from:

Physical, occupational, and speech therapies
Surgical interventions (e.g., for hernias, airway obstructions, or carpal tunnel syndrome)
Sensory aids for hearing and vision
Special education and behavioral support

The Race for a Cure: Scientific Advances Lighting the Way

Driven by the need for transformative treatments, researchers are exploring new approaches that may offer more meaningful improvements for Hunter syndrome patients.

1. Next-Generation Enzyme Replacement Therapies

Innovation is underway to develop therapies that overcome the limitations of current ERT. One promising candidate is DNL310 (tividenofusp alfa), developed by Denali Therapeutics. Using an “Enzyme Transport Vehicle” (ETV) technology, DNL310 can cross the blood-brain barrier and deliver the I2S enzyme to the central nervous system.

Clinical trials have shown reductions in disease biomarkers and reported improvements in cognition and hearing for children receiving the treatment .

The advancements in genetic testing have far-reaching consequences beyond Hunter syndrome. Take a closer look at how similar innovative strategies are being applied in the realm of metastatic breast cancer. Understanding the life-saving impact of genetic testing can shed light on the importance of emerging therapies across various rare and chronic conditions.

Key Findings from Denali’s Clinical Trials

**Reduction of disease biomarkers** in cerebrospinal fluid
**Improvement in cognition and hearing** in treated children
Side effects were mostly mild or moderate, such as infusion reactions and mild infections
Priority review for accelerated approval is underway, with patients potentially gaining access to the drug soon

2. Gene Therapy: Aiming for One-Time Correction

Gene therapy aims to deliver a functional IDS gene directly into patients’ cells, enabling the body to produce its own I2S enzyme. A notable example is RGX-121, an adeno-associated virus-based gene therapy by REGENXBIO.

In clinical studies, RGX-121:

Significantly reduced disease-related biomarkers in the cerebrospinal fluid
Showed an 86% median reduction in the key biomarker D2S6
Enabled most participants (80%) to stop regular enzyme replacement therapy
Demonstrated potential to address both the neurological and systemic aspects of the disease

As families eagerly await breakthroughs in treatments, stories of public figures like Ryan Reynolds navigating personal challenges remind us of the universal fight against disease. His journey with his father’s Parkinson's disease sheds light on shared struggles and resilience. Don’t miss the chance to uncover the lessons from Ryan Reynolds’ experience with his father’s journey through Parkinson’s.

The FDA is currently reviewing RGX-121, with a decision expected by late 2025. If approved, this treatment could dramatically change the outlook for children diagnosed with Hunter syndrome.

3. Stem Cell Gene Therapy: The University of Manchester’s Pioneering Efforts

Another frontier in research is combining gene therapy with stem cell transplantation. In the UK, a clinical trial led by the University of Manchester is testing a therapy in which blood stem cells are harvested from affected children, genetically modified to carry a working IDS gene, and returned to their bodies. Early results are awaited, but the hope is that this approach could effectively cure the disease by enabling the body to self-produce the needed enzyme, including within the brain .

Navigating the Healthcare Maze: The Role of Advocacy

For families like the Liebers, medical advances offer hope—but navigating the complexities of clinical trials, insurance coverage, and the health system remains daunting. Emily’s advocacy extends beyond her son: she collaborates with other families, participates in rare disease networks, and works to raise awareness of Hunter syndrome. Her efforts help push forward research, influence policy, and offer support to newly diagnosed families.

Support Networks for Hunter Syndrome Families

National and international rare disease organizations
Patient advocacy groups and online communities
Collaboration with clinicians and researchers
Fundraising for research and awareness campaigns

The Emotional Impact: Strength, Resilience, and Hope

Living with a rare disease like Hunter syndrome presents immense emotional and psychological challenges. Families often experience:

Anxiety about disease progression and treatment access
Isolation due to the rarity of the condition
Grief over lost milestones and uncertain futures
Pride and joy in small victories and progress
A deepened sense of resilience and community

Emily’s story is a testament to a parent’s love, persistence, and determination to fight for a better life for her child—and for all children living with Hunter syndrome.

Current Clinical Trials and Future Outlook

Momentum is building in medical research on Hunter syndrome. Several clinical trials and experimental therapies are under way:

Treatment	Developer/Institution	Status	Key Benefits
Elaprase (ERT)	Takeda	FDA approved	Treats symptoms, not CNS
DNL310 (Tividenofusp Alfa)	Denali Therapeutics	Phase 1/2 complete, Priority Review	Treats symptoms + CNS
RGX-121 (Gene Therapy)	REGENXBIO	FDA Review, Decision Late 2025	Targets CNS/systemic disease, possible one-time dose
Gene-Modified HSCT	University of Manchester	Ongoing clinical trial	Potential curative intent

Frequently Asked Questions (FAQs)

What is Hunter syndrome?

Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a rare genetic disorder caused by the lack of the enzyme iduronate-2-sulfatase, leading to the buildup of complex sugars in the body and resulting in progressive organ, tissue, and cognitive damage.

Is there a cure for Hunter syndrome?

Currently, there is no definitive cure. Treatments like enzyme replacement therapy and hematopoietic stem cell transplantation help manage symptoms, and gene therapy is being tested in clinical trials as a potential one-time cure.

What new treatments are on the horizon?

Several promising therapies, including gene therapy (RGX-121) and next-generation enzyme therapies (DNL310), are in late-stage clinical trials aiming to address both systemic and neurological aspects of the disease.

How can I find clinical trials for Hunter syndrome?

Rare disease foundations, clinicaltrials.gov, and major children’s hospitals are good resources. Genetics and metabolic specialists can also help guide families toward appropriate clinical studies.

What resources exist for families affected by Hunter syndrome?

Support is available via rare disease organizations, patient advocacy groups, online communities, and networks devoted to mucopolysaccharidosis. These groups offer emotional support, practical resources, and research updates.

The Power of Community and Science

Emily Lieber’s story is both unique and universal—a portrait of determination in the face of rare disease, and a reminder of the profound impact that research, advocacy, and community can have.

For every breakthrough in medical science, there are families whose lives hang in the balance, waiting and hoping. As new therapies move closer to approval, hope is no longer just a dream but a tangible possibility for children with Hunter syndrome and their families worldwide.

References

Author

Sneha TeteBeauty & Lifestyle Writer

Sneha is a relationships and lifestyle writer with a strong foundation in applied linguistics and certified training in relationship coaching. She brings over five years of writing experience to thebridalbox, crafting thoughtful, research-driven content that empowers readers to build healthier relationships, boost emotional well-being, and embrace holistic living.

Read full bio of Sneha Tete