More than 30 million Americans have one of many rare diseases. But since a single rare disease affects fewer than 200,000 people, it can be hard to find specialized advice and care with experience treating one specific rare disease. AmbitCare understands that seizures and developmental delays can be indicators for numerous rare diseases. If you or your loved ones are exhibiting these symptoms, AmbitCare can help you explore possibilities and take the next step.
Angelman Syndrome
Different types of seizures, development delays
CDKL5 Deficiency Disorder
Hard to control seizures, cognitive impairment
Dravet Syndrome
Febrile seizures, developmental delay
Dup15q Syndrome
Developmental delays, distinct facial features, low muscle tone
FOXG1 Syndrome
Severe intellectual disability, movement problems
KCNQ2 Encephalopathy
Hard to control seizures early in life
KCNT1
Migrating focal seizures, nocturnal frontal lobe seizures, developmental delays
Lennox-Gastaut Syndrome (LGS)
Hard to control seizures, unique EEG pattern
Mowat-Wilson Syndrome
Developmental delays, distinct facial features, intellectual disability
Ohtahara Syndrome
Tonic seizures, developmental delays
PCDH19 Epilepsy
Cluster seizures, cognitive impairments
Pitt Hopkins Syndrome
Distinct facial features, intellectual disability, breathing abnormalities
Rett Syndrome
Involuntary hand movements, loss of acquired skills
SCN2A Related Disorders
Seizures, intellectual disability
SCN8A Related Epilepsy
Seizures, developmental delays, loss of skills
SLC13A5 Deficiency
Seizures, developmental delay
SLC6A1 Epileptic Encephalopathy
Seizures, intellectual disability
STXBP1 and Related Disorders
Seizures, developmental delay, wide variety of severity and other symptoms
SYNGAP1
Intellectual disabilities
Tuberous Sclerosis Complex (TSC)
Growth of benign tumors in different organs
Angelman Syndrome
Different types of seizures, development delays
CDKL5 Deficiency Disorder
Hard to control seizures, cognitive impairment
Dravet Syndrome
Febrile seizures, developmental delay
Dup15q Syndrome
Developmental delays, distinct facial features, low muscle tone
FOXG1 Syndrome
Severe intellectual disability, movement problems
KCNQ2 Encephalopathy
Hard to control seizures early in life
Lennox-Gastaut Syndrome (LGS)
Hard to control seizures, unique EEG pattern
Mowat-Wilson Syndrome
Developmental delays, distinct facial features, intellectual disability
Ohtahara Syndrome
Tonic seizures, developmental delays
PCDH19 Epilepsy
Cluster seizures, cognitive impairments
Pitt Hopkins Syndrome
Distinct facial features, intellectual disability, breathing abnormalities
Rett Syndrome
Involuntary hand movements, loss of acquired skills
SCN2A Related Disorders
Seizures, intellectual disability
SCN8A Related Epilepsy
Seizures, developmental delays, loss of skills
SLC13A5 Deficiency
Seizures, developmental delay
SLC6A1 Epileptic Encephalopathy
Seizures, intellectual disability
STXBP1 and Related Disorders
Seizures, developmental delay, wide variety of severity and other symptoms
SYNGAP1
Intellectual disabilities
Tuberous Sclerosis Complex (TSC)
Growth of benign tumors in different organs
The average person with a rare disease sees 7.3 specialists over a span of 5-7 years before receiving an accurate diagnosis. An AmbitCare Ambassador can help, at no cost to you, figure out your next step toward diagnosis and care.
Have additional questions? Contact an AmbitCare Ambassador by phone at 1-877-584-8995 or by email at info@ambitinc.com today.
Our hours of operation are Monday-Friday, 9-5pm ET. An AmbitCare Ambassador will typically respond within 1-2 business days.
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Disclaimer
Please note that AmbitCare provides this information for the benefit of the rare disease community. AmbitCare is not a medical provider nor a health care facility. AmbitCare can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Individuals must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure, or treatment of a condition or disorder.
