Pediatric neurogenetics is a subspecialty of pediatric neurology care. Neurogenetics focuses on diseases of the brain and nervous system caused by inherited or genetic traits. Some children show signs of neurological conditions at birth, while others will not begin experiencing symptoms until later in life.
In the United States, rare diseases are defined as conditions that affect one in 1,500 individuals or less at any given time. These diseases often affect multiple organs, have hard-to-diagnose symptoms and involve complicated evaluations. That's why patients, families and their physicians turn to the Boys Town Rare Disease Clinic – for wholistic care and the hope of a cure.
We understand the fear, sadness and stress patients and their families experience when facing a mystery illness. At Boys Town Hospital, you will find the right support, the right specialists and the right care.
Conditions We Treat
Our clinic treats a wide range of rare diseases and conditions that include:
- Brain Malformations
- Congenital Disorders
- Genetic Epilepsy
- Genetic and Inherited Ataxia
- Genetic Syndromes
- Leukodystrophies/White Matter Disorders of the Brain
- Lysosomal Storage Disorders
- Metabolic Disorders
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Neuromuscular Disorders
- Cerebral Palsy
- Charcot-Marie-Tooth
- Congenital, Metabolic or Inflammatory Myopathies
- Mitochondrial Disorders
- Muscular Dystrophy
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Multiple Sclerosis
- Myasthenia Gravis
- Neuromuscular Scoliosis
- Peripheral Neuropathy
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Spinal Muscular Atrophy
- Neurofibromatosis
Testing and Diagnosis
We use a variety of testing and diagnostic tools to find answers and bring better health to patients living with rare conditions. Our comprehensive evaluations can involve:
- Blood Tests
- Genetic Testing
- Genetic Counseling
- EEG Tests
- Lumbar Puncture
- MRI Imaging
- MR Spectroscopy
- Muscle and Nerve Biopsy
- Pulmonary Function Test
- Prenatal Tests
Boys Town Hospital offers on-site diagnostic imaging services with advanced imaging technology that features 90% noise reduction and up to 40% lower radiation level. Our spacious and adjustable exam environments are specifically designed to be comfortable for all pediatric patients.
Why Choose Boys Town
Our whole-child approach to care is designed to achieve the best outcomes for your child. A personalized treatment plan will address all the physical and psychological aspects associated with your child's well-being. Treatment options can include:
- Medications to relieve or slow symptoms, prevent complications or treat the condition
- Exercise programs to strengthen muscles
- Occupational and physical therapy to improve coordination and increase independence
- Equipment/braces to provide support or to prevent malformations
- Surgery
Meet Our Team
Here, children will have a team of pediatric neurologists, orthopaedists, genetic counselors, a social worker, a dietitian, a case manager and child life specialists. This multidisciplinary team is led by pediatric neurologist, Isabella Herman, M.D., Ph.D., who specializes in neurogenetic conditions and rare diseases. Dr. Herman and the team work tirelessly to advance the care and management of all those living with rare diseases and undiagnosed illnesses.
“It is an extremely exciting time in neurogenetics. Being at the forefront of new treatments for some rare neurogenetic diseases and bringing them to my patients is my passion." -
Isabella Herman, M.D., Ph.D., Pediatric Neurogenetics
