Common Questions
As written by parent advocates, with contributions from Dr. Taton-Brown, and Dr. Yong-hui Jiang.
What is HIST1H1E?
HIST1H1E is the name of the genetic variant or 'typo' associated to what is being referred to as HIST1H1E Syndrome (also known as Rahman Syndrome; this is different than a similar syndrome named Taton-Brown Rahman Syndrome). Its function is to encode a protein that forms a receptor responsible for sending chemical messages to the brain.
What causes variations on the HIST1H1E gene?
A HIST1H1E variation occurs randomly and spontaneously at or shortly after conception. The reasons for these genetic changes are unknown. It is possible for a parent to be a carrier of the change and pass it on to their children, but all known cases are found to be de novo (meaning, it occurs spontaneously in the DNA of the egg or sperm that formed the child).
Who can receive a HIST1H1E diagnosis?
Males and females of all races can be born with a HIST1H1E variation. So far, we know of less than a hundred individuals diagnosed living in many different countries all over the world, including Australia, Canada, England, Ireland, France, Belgium, Estonia, the Netherlands, and the United States (this list changes often as new diagnoses are confirmed).
What are the Symptoms?
Symptoms can vary from person to person and present on a large spectrum like other genetic syndromes. The most common traits (as reported by parents in the HIST1H1E parent support group) are infant feeding difficulties, delayed milestones, hypotonia (low muscle tone), gross and fine motor disabilities, intellectual disability, distinct facial features and speech challenges ranging anywhere from non-verbal to delayed speech. For a detailed list of additional symptoms, please check out our Symptoms infographic on About HIST1H1E.
Is there a cure?
At this time, there is no cure for a HIST1H1E change because it occurs at the genetic level of an individual. It is also important to understand how new and grossly misunderstood this diagnosis is. Though some Researchers have been studying this gene since 2016, there has been little clinical understanding of this diagnosis. The HIST1H1E Foundation was the first patient advocacy group formed to support this rare diagnosis. As other HIST1H1E-gene patient groups are forming internationally, we are collaborating with them and with medical professionals around the world to fund research. Dr. Yong-hui Jiang at Yale is, to our knowledge, the furthest in the genetic research in researching a treatment for HIST1H1E. One day, this research will lead to better care and treatments for all those with HIST1H1E.
What are the treatments?
While there is presently no cure for HIST1H1E, physical, occupational, ABA and speech therapies can help manage symptoms in children and may help them reach developmental milestones in their own time. Seizures, if present, are treated by a specialist. There are no known medications on the market to specifically alleviate the symptoms associated with HIST1H1E. However, there are some vitamins, diet and homeopathic treatments that have been shown to have some success as reported by some parents in the HIST1H1E parent support group. For more information, check out our Treatments page.
What kind of equipment might my child with HIST1H1E need?
Parents have reported needing a variety of equipment depending on their child’s specific symptoms, including, but not limited to orthotics (afo’s and smo’s), walkers, and specialty strollers. For children with more limited speech, some families have found success using Augmentative and Alternative Communication devices (AAC). Additionally, many children report having sensory sensitivities and may receive some benefits from the use of compression garments, chewy tubes, swings, weighted blankets. Please consult your child’s medical professional and do your own careful research before purchasing any of these items.
How is HIST1H1E diagnosed?
HIST1H1E is not easily diagnosed. Often HIST1H1E children will have normal MRIs, normal EEGs, and normal chromosome pairings – common tests that can often help diagnose other, more common genetic disorders. In most instances, HIST1H1E variations are discovered through a genetic blood test called Whole Exome Sequencing (WES). This blood test examines the individual’s entire genetic makeup. This is compared with the genetic sequences of the parents. Through this test, rare genetic outliers like the HIST1H1E gene can be determined and diagnosed. This test has only really become more widely available and covered by insurance in the past few years, which explains why there are so few known individuals. As this test becomes more prevalent, we expect the number of individuals diagnosed with HIST1H1E to grow.
What is the prognosis?
To date, we do not know of any deaths that have occurred in individuals due to complications with HIST1H1E. Also, this disorder does not appear to be progressive, meaning it does not worsen over time. There is likely a larger population out there with undiagnosed HIST1H1E, so the phenotype and prognosis will continue to evolve. The oldest known HIST1H1E patient is 50 years old.
What can I do to help?
Consider making a donation to our organization. Your donations will help us further our mission. We know so little about HIST1H1E and we have a long road ahead of us in terms of funding research. Please follow our Facebook, Twitter and Instagram pages for updates on additional ways to help. If you are interested in being a volunteer, we are specifically looking for people to help us plan future family gatherings. We are also always in need of volunteers who have skills in the following areas: Legal, Marketing, Social Media Management, Event planning, Finance and anyone with a medical background. Email info@hist1h1esyndrome.com if you have any of the previously mentioned skills and are interested in sharing your expertise. If you are a parent, please register your child for as many studies as possible. In order for us to better understand a HIST1H1E diagnosis and someday develop treatments, we need to have as much patient data as possible. There are several current studies collecting data under our Research tab. If you haven’t already done so, please sign up for our Contact Registry so we can keep you informed on new research studies and relevant events.
