Living with Folinic acid-responsive seizures
A very rare newborn seizure condition that starts within days of birth and responds to folinic acid.
Understanding Folinic acid-responsive seizures
Babies have jerking (myoclonic and clonic) seizures along with pauses in breathing (apnea), usually from several hours to 5 days after birth. Other findings can include developmental delay, poor coordination, and changes in the brain's myelin (the coating on nerves).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures in the first days of life
- Pauses in breathing (apnea)
- Breathing difficulties
- Developmental delay
- Poor coordination (ataxia)
- Behavior differences or autistic behavior
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes cause it. GARD doesn't name a gene or describe how it is inherited.
Also known as: folinic acid responsive developmental and epileptic encephalopathy; folinic acid responsive seizures
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Folinic acid-responsive seizures.
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