Hunter Syndrome Care
Recommended Specialists & Therapies
Hunter syndrome is a complex, multi-system condition that requires coordinated care from a team of specialists. Whether you're newly diagnosed or years into the journey, knowing what providers to see — and when — can make a big difference in your child’s health and quality of life.
While every child’s needs are unique, this guide outlines the most commonly recommended specialists and therapies for individuals with neuronopathic MPS II (Hunter syndrome with neurological involvement).
Note: Always consult your MPS specialist or primary care team to tailor this plan to your child’s individual needs.
Key Specialists in Hunter Syndrome Care
These providers play important roles in monitoring and managing different aspects of the disease.
🧬 MPS Specialist / Geneticist
- Coordinates overall care
- Prescribes enzyme replacement therapy (ERT) if applicable
- Reviews testing and discusses new symptoms or treatment options
- Typically seen every 6–12 months
🧠 Neurologist
- Evaluates for seizures and cognitive changes
- Manages carpal tunnel and other nerve-related symptoms
- Interprets EMG and EEG results
- Typically seen every 12 months
🧠 Neurosurgeon
- Evaluates for hydrocephalus and spinal cord compression
- Performs surgery if needed
- Seen as needed, based on MPS specialist recommendation
❤️ Cardiologist
- Monitors heart valves and function using ECG and echocardiogram
- Typically seen every 1–3 years
🫁 Pulmonologist
- Interprets sleep studies and pulmonary function tests
- Helps manage airway and breathing challenges
- Typically seen every 12 months or as symptoms arise
👂 Otolaryngologist (ENT)
- Evaluates ears, tonsils, adenoids, and airway
- Performs surgeries like ear tubes or tonsil/adenoid removal if needed
- Typically seen every 12 months
👂 Audiologist
- Conducts hearing tests every 6–12 months
- Adjusts hearing aids if applicable
- May recommend ABR testing under anesthesia
🦴 Orthopedist
- Evaluates bones, joints, spine, and hips
- Orders x-rays and may recommend surgery for hip dysplasia, kyphosis, etc.
- Typically seen every 12 months or as needed
🧒 Developmental-Behavioral Pediatrician
- Helps manage behavioral and sleep issues
- Seen as needed or referred by primary care or MPS team
🧑⚕️ Endocrinologist
- Monitors growth and development
- May recommend hormone therapy during puberty
- Usually consulted around ages 8–9
🩺 Gastroenterologist
- Manages reflux and feeding issues
- Evaluates for G-tube placement if needed
- Seen as needed
🦷 Pediatric Dentist
- Provides regular dental care
- Watches for common issues like delayed tooth eruption and weak enamel
- Seen every 6 months
👨🦽 Physiatrist (Rehabilitation Medicine Specialist)
- Recommends adaptive equipment (e.g., wheelchair, orthotics)
- Helps update therapy plans
- Seen as needed, often with PT/OT involvement
🧪 Bone Marrow Transplant Specialist
- Only applicable if your child underwent HSCT
- Monitors post-transplant health, labs, and complications
- Seen based on transplant protocol
Therapies & Education
🗓 Recommended Therapies
These therapies help support day-to-day functioning, communication, and quality of life.
- Speech Therapy: Often 1–2 times per week; may include alternative communication evaluations
- Occupational Therapy (OT): Builds fine motor skills, self-help strategies, and adaptive tools
- Physical Therapy (PT): Supports movement, strength, balance, and posture
- Behavioral Therapy (e.g., ABA): Recommended when behavioral support is needed
- Hippotherapy, Aqua Therapy, Art or Music Therapy: Additional options to promote engagement and well-being
🎓 Educational & Developmental Support
- Early Intervention (0–3 years)
- School-based services (3+ years): May include an IEP or 504 plan
- Local disability or developmental services: Vary by state/community
💙 Support Along the Way
Project Alive is here to walk with you. We know this list can feel overwhelming — but you don’t have to do it all at once, and you don’t have to do it alone. We can help connect you to experienced providers, offer questions to ask, and support you through decision-making.
You can also download our printable Annual Health Maintenance Checklist or reach out to our team for guidance.
📩 Contact us: resources@projectalive.org
📞 Call or text: (313) 312-5483
May 3, 2025 | Chapel Hill, NC
Cure Within Reach Gala
Join us for an unforgettable evening at the Cure Within Reach Gala, a premier event dedicated to advancing research, advocacy, and care for individuals affected by MPS. Hosted at the prestigious Carolina Club in Chapel Hill, NC, this special night will bring together supporters, advocates, and leading experts in the field to fuel hope and progress.
Together, we are bringing a cure within reach.