Freqently Asked Questions

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DEAF1 Associated Neurodevelopmental Disorders (DAND).

Extremely rare. One of the rarest diseases in the world. There are only dozens of known cases in over 20 years. Of those most mutations are still unique.

One DAND syndrome is hereditary and one is de novo (new to families). The new cases are more common. Symptoms are different for the inherited syndrome. Development can be more typical at first which is why we may not be seeing as many cases yet.

Deformed epidermal autoregulatory factor-1 (DEAF1), a transcription factor essential for central nervous system and early embryonic development.

Yes, our children face many health problems. Most of our children spend many weeks in the hospital every year with serious infections, or seizures that are uncontrollable.

Some of our children have been on life support and several have white brain matter disease which slowly takes over your brain (dementia, but in children).

Symptoms include:

  • Intellectual disability, seizures
  • Impacted speech
  • Gait (walking) disturbances
  • Movement disorders
  • Anxiety
  • Autistic behaviors and white brain matter disease are all common symptoms of mutations in this gene

No, there is currently no cure, but we hope with research we can one day find a cure and give our kids a better quality of life.

DAND is usually diagnosed because of an unusual response to either a treatment or therapy. For example, seizure medications may cause a side effect that has never been seen, or a child that is non-verbal is diagnosed with autism but therapies have the complete opposite effect on our kids, so they don’t know what to do with them and will request genetic testing. Whole/trio exome sequencing is usually the genetic test done to identify mutations in the DEAF1 gene.

Children with de novo (non-inherited) mutations are being diagnosed at a very young age (before their 2nd birthday). Inherited cases tend to be identified a little later in childhood when regression and/or seizures suddenly begin.

Neurologists are usually the primary specialist. They do evaluations and recommend genetic testing and work with the geneticists who perform the actual test and make the diagnosis. All of us have teams of doctors, with neurologists being one that we are most involved with.

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