Learn About Rare Diseases

You are looking for answers. Explore whether a rare disease diagnosis is relevant to you.

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It’s not rare to have a rare disease.

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.

Explore some of the epilepsy-related rare diseases that typically begin presenting in childhood:

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

Rare disease by the numbers:

1 in 10 Americans is living with a rare disease.

There are approximately 7,000 known rare diseases.

80% of rare diseases are genetic in origin.

Source: Global Genes, February 27, 2009

Rare disease by the numbers:

1 in 10 Americans is living with a rare disease.

There are approximately 7,000 known rare diseases.

80% of rare diseases are genetic in origin.

Source: Global Genes, February 27, 2009

Explore some of the epilepsy-related rare diseases that typically begin presenting in childhood:

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

AmbitCare can help you understand how rare disease might be part of your story.

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.

Join our community

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.

* Please note that while AmbitCare Ambassadors can help you better understand what resources are available for families with loved ones suffering from seizures and developmental delays, they are not licensed medical providers and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments.