My name is Sandra Sermone and I spent 6 long years trying to get my son diagnosed.  During those years he endured multiple operations, hundreds (no lie) hospitalizations, and countless tests. My son was finally diagnosed with a newly discovered rare genetic disorder called ADNP Syndrome and I now want to help others.

ADNP Syndrome is a rare neurological genetic disorder that can disrupt brain function and development of the brain and many other areas of the body. Global developmental delay and autism are very prevalent in children diagnosed with this disease.

It is estimated that over 6000 children have this rare condition but only 105 worldwide have been diagnosed.  Up until now, ADNP has been extremely hard to identify.  But a recent biomarker has been discovered that can change this, and it is as simple as baby teeth.

A recent study in the Nature journal Translational Psychiatry has identified that 81% of children who have ADNP Syndrome had early tooth eruption and a full mouth of teeth at 12 months old.  This biomarker is not seen in any other genetic syndrome, making it a very important diagnostic link for ADNP.

I want to tell families who have medically complex children who are undiagnosed about this biomarker because if they identify this in their child, they can go to their doctor and request testing for ADNP Syndrome.  My son had a 16 teeth including molars at 12 months old but had a feeding tube because he could not chew or swallow.  So his teeth stood out but no one connected that with anything.

There are thousands of families sitting at home right now with a undiagnosed child.  They are thinking they will never know what is the caused their child’s condition.  I hope my message helps some of them.

To learn more about this visit www.ADNPkids.com 

Sandra Sermone

Email: ssermone@msn.com