Rare Epilepsy Network (REN) is now open for enrollment!
November 15th is World Ohtahara Syndrome Awareness Day!!!
Mark your calendars and join us in honoring our children!
Aaron's Ohtahara Foundation is an non profit, 501(c)3 organization created by Dan and Brianne McDonald, in an effort to bring research, awareness, support, and hope to children and families who have been impacted by Ohtahara Syndrome (OS). This website has been created to help families and offer assistance and should not be used as a diagnosis or treatment tool. Please speak to a medical professional if you have concerns regarding your child. Ohtahara syndrome is very rare, progressive, and complicated. We have made it one of our goals to bring awareness of this syndrome to families and medical professionals throughout the world. Our main goal is to help children that have Ohtahara syndrome and other progressive epileptic conditions.
WHAT IS OHTAHARA SYNDROME?Ohtahara syndrome (OS) is a neurological disorder characterized by seizures. It is the earliest form of epileptic encephalopathies. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures. Ohtahara syndrome is most commonly caused by metabolic disorders or structural damage in the brain, although the cause or causes for many cases can not be determined. Most infants with the disorder show significant underdevelopment of part or all of the cerebral hemispheres. The EEGs of infants with Ohtahara syndrome reveal a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known as “burst suppression.” Doctors have observed that boys are more often affected than girls.
-National Institute for Neurological Disorders and Stroke-
Ohtahara Syndrome is of heterogeneous etiology, meaning many different causes, most remain unknown. Our downloads section has links to studies found on genetic testing, medications, and other studies involving OS treatment and diagnosis.
Genes Associated with Ohtahara Syndrome (Early Infantile Epileptic Encephalopathy-EIEE)
ARX CDKL5 SLC25A22 STXBP1 SPTAN1 SCN1A
KCNQ2 ARHGEF9 PCDH19 PNKP SCN2A PLCB1 SCN8A
ST3GAL3 TBC1D24 BRAT1
Follow the link for a description of EIEE and the various mutations associated with EIEE/Ohtahara Syndrome
Ohtahara syndrome is a progressive disorder. Seizures become more and more frequent, in some cases, beginning in utero. Some children will die in infancy; others will survive but be handicapped. With the progression of the seizures, severe underdevelopment is seen. This prognosis is difficult, but "we are not without hope." Some children reach seizure freedom or have some control over seizure activity with medication or surgery. Progress and development are seen in most children with some seizure control.
Although the prognosis is not good, we as an organization and as parents, want to do what we can to provide a quality of life these children deserve. Through funding, support, and research, we are praying that this is a very real possibility.
Anti-seizure medication is often used for treatment, however, with Ohtahara syndrome, the seizures are near impossible to control. That is not to say that seizure freedom has not occurred, it has for a handful of children on medication. A ketogenic diet is another known treatment and for some, surgery is an option. The surgery involves a functional hemispherectomy or other type of brain surgery depending on the localization of seizure activity. Candidates for the surgery show a malformation on a part of their brain, left or right hemisphere, that has caused the seizures and Ohtahara syndrome. The surgery can be a life saver for these children if they qualify. Testing is completed to ensure candidacy. Surgery, it seems, is the best option, for no other treatment, has been able to meet the results the surgery has. Unfortunately, surgery is not an option for all children who have Ohtahara syndrome. Being a strong advocate for your child and speaking to doctors about testing for surgical candidacy is vital. Although surgery may not always be an option, testing should always be done early to verify any possibility the child may have for candidacy. The Parent Resources section of our webpage has downloads and links available for many different articles related to Ohtahara Syndrome.
HOW CAN YOU HELP?
Your help is greatly appreciated and needed. We are looking for volunteers, support, and donations right now. To begin, please use the "contact us" link for more information. Prayers are also needed, not only for us, but also, and more importantly, for the children. View the "Ohtahara Stories" section for specific stories of children fighting OS. We have also begun an Ohtahara Community Newsletter. If your child has been diagnosed with OS and you would like to feature his/her story please go to the contact us page and let us know. We are featuring a child every month when possible. Thank you for your support. Aarons Ohtahara is a 501 (c) (3) non profit organization.
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