You or your loved ones may have a diagnosis of seizures and/or global developmental delay, but you may not know what the underlying cause is. Some causes of seizures and developmental delay include genetic mutations that may be linked to a rare disease, structural brain abnormalities, trauma, pregnancy or birth complications, or infection.
About 30% of people with developmental encephalopathies who do not have structural brain abnormalities or metabolic findings on tests have an underlying genetic change that is causing their symptoms. These conditions are a group of severe epilepsies causing seizures that are often not controlled with medication, developmental delay, and may lead to a loss of developmental skills.
There are many rare genetic conditions that occur due to what is called a de novo genetic mutation.
Genetic testing can help you uncover if a genetic mutation is causing symptoms, such as seizures and developmental delays. Register below to see if you qualify for our free genetic services. Even if you don’t, join our community to receive other free benefits such as customized 1:1 support.
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.
