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Rare Smile

"Rare Smile" is a none profit organization on a mission to find a cure for STXBP1. Until we do, we'll be funding and conducting research, sharing expert information, supporting patients, and spreading the word about the findings and possible cure.


We are investing all our resources to find and treat this condition in order to make life a little bit better for those individuals and family struggling with this condition daily.

Rare smile organization was founded by parents for a child with STXBP1 disorder in order to advance research for finding a treatment for children in Israel and worldwide. 

The organization is focused on a number of areas including: 

Fund raising for research toward a cure.

Raising  awareness among the scientific community, the clinical community and the general public.

Collecting relevant information that will contribute to the research.

We are blessed that both family and friends assist with events and spreading the word in order to fund the association . All the income goes to research and development to find a cure.

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STXBP1 Syndrome

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STXBP1 Syndrome

STXBP1 is an important gene for normal brain function which plays a vital role in the process of nerve cells communication. STXBP1 is a very rare disorder caused by random changes in the gene (located in chromosome 9) leading to seizures, global developmental delay, motion impairments and most of the patients are nonverbal.

There are about 400 cases worldwide and according to a Danish study conducted in 2016 the disorder incidence in the population is about 1:92,000 (Stamberger et al., 2016). However as with other rare diseases there are probably additional cases that are yet to be diagnosed.


In most cases seizures appears from the first year and even from the first days of the patients' lives and according to several studies STXBP1 is one of the main genes leading to early onset epileptic encephalopathy (Allen et al., 2016, Helbig et al., 2016). In some cases patients may suffer from uncontrolled very frequent and severe seizures called Ohtahara syndrome, or from West syndrome which include stiffening seizures (spasms). Additional symptoms of STXBP1 disorder are global developmental delay, motion impairments including ataxia, dystonia and hypotonia. In large number of cases patients are not able to walk or sit unsupported. Some of the children are diagnose with autistic features and the majority of the patients are nonverbal.


Current treatments only targets the disorders' symptoms. Several dozen anti-epileptic drugs are used by different patients worldwide starting from the first days of their lives, some of these drugs may help control patients seizures while others won't.

Children also receive allied health therapies including Physiotherapy (PT), Occupational therapy (OT), and Speech therapy (SLP) which may use communication boards or eye gazing system. Additional therapies includes Music therapy, Therapeutic horseback riding, Hydrotherapy and more. However, patients need supervision at all times and dependent on others for all day to day activities

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PayPal / Credit Card donations

For donations via SWIFT/IBAN

Mizrahi-Tefahot Bank Ltd

Branch 532, Park Hamada

Account number 165686

Rare smile (hiuh Nadir) R.A. 580654523

IBAN code - IL500205320000000165686


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