SPATA5 and SPATA5L1 are separate genes with a common ancestry and similar structure and function. Think of them like cousins. ​ Mutations in these genes cause two very similar rare genetic conditions: SPATA5 Disorder and SPATA5L1 Disorder.

We know one of the first things running through your mind is how this changes your child's future. As far as we know, SPATA5 and SPATA5L1 Disorders do not directly result in any shortened lifespan. ​ With that being said, complications from these disorders do increase the risk. Epilepsy, Respiratory Issues, and Immunodeficiency can become serious and have resulted in the loss of a some SPATA5 and SPATA5L1 warriors. ​ All cases are different.

It's important to note that every case is different, and not everyone affected will experience all symptoms, and symptoms may be experienced at various degrees of severity. ​ Early Warning Signs: Hearing Loss Developmental Delay Intellectual Disability Epilepsy Spasticity Dystonia/Hypotonia Microcephaly Vision Impairment (typically Cortical Visual Impairment) Abnormal MRI Neurostorming Immunodeficiency

That's why The SPATA Foundation was created: the hope of a cure. ​ There is no current cure or preferred treatment for SPATA5 or SPATA5L1 Disorder. Some medications may improve symptoms and increase quality of life, but this is dependent on individual symptoms & circumstances. For example, one anti-seizure medication may work great for some, but others may not respond to the same medication. The SPATA Foundation is committed to building relationships between patient families and researchers in order to pursue research towards treatment avenues. ​ We encourage you to join our efforts by sharing your story, sharing our story, and sharing our donation page.

The symptoms of SPATA5 and SPATA5L1 are not enough alone to diagnose. Many genetic conditions share similar symptoms. The only sure way to diagnose SPATA5 or SPATA5L1 is via genetics. ​ SPATA5 can be detected via an Epilepsy Panel. SPATA5L1 can only be detected via Whole Exome Sequencing, unless there is a known family history, in which case targeted testing can be done.

Research published in 2015 reported 14 individuals with SPATA5 Disorder. However, we know there around 40-50 confirmed cases. Research published in 2021 reported 47 individuals with SPATA5L1 Disorder. 25/47 presented with neurological symptoms, while the other 22 presented with only hearing loss. As science advances and testing becomes more accessible, more families are being diagnosed and we expect to continue to find more affected people. ​ The SPATA Foundation was founded by parents of a child with SPATA5L1 because they've been in your shoes. ​ The first step in navigating this diagnosis is to connect with a community that understands exactly what you're going through.

SPATA5 and SPATA5L1 are recessive genetic conditions. That means that both you AND your reproductive partner must be carriers of a mutation in order to have an affected child. Carriers have a 25% chance of each child they have being affected. Each child also has a 50% chance of being a carrier. Carrier: Has 1 mutated copy of the gene, but is not affected by symptoms Affected: Receives 2 mutated copies (or in some cases a deletion) that causes symptoms associated with the disorder Unaffected: Both genes are good

Please feel free to email Mariah George directly at info@spatafoundation.org with any questions/concerns/comments.