Local mom helping change the way doctors look at rare genetic sy - KPTV - FOX 12

Local mom helping change the way doctors look at rare genetic syndrome linked to autism

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BRUSH PRAIRIE, WA (KPTV) -

A Brush Prairie mom says she discovered a way to help kids with a rare genetic syndrome that's linked to autism.

Sandra Sermone's research is now being published, with the help and support of a world renowned doctor in Israel who specializes in Activity Dependent Neuroprotective Protein (ADNP) genetic research.

It's all to help children get diagnosed early and into treatment.

Sermone says her son Tony, 9, was born as a seemingly healthy twin, along with his brother Rocco. However, within the first hour after his birth, it was discovered that Tony had a heart condition that would require surgery.

"He has what they call a laundry list of medical diagnosis. It's 75 line items long," said Sermone. "He has heart defects, brain defects, vision impairments, GI issues, cognitive delays, he's essentially head-to-toe effected."

Sermone says her family did all sorts of genetic testing to figure out what was wrong. It wasn't until three years ago she says doctors diagnosed Tony with autism and an extremely rare syndrome called ADNP.

"It stands for Activity Dependent Neuroprotective Protein gene. It's a brain gene that regulates 400 other genes," said Sermone. "When he was diagnosed, doctors had no information, they had one piece of paper and so that's kind of what sent me on my discovery journey."

Sermone became obsessed with learning more about what ADNP is, how it's linked to autism and how best to help her son.

From her home in Brush Prairie, Washington she reached out to a Illana Gozes, Ph.D. Professor of Clinical Biochemistry in Israel. Gozes specializes in ADNP research and developed a patient registry of all diagnosed cases. It's a list that's about 100 people long.

Sermone started a support group on Facebook called ADNP Kids to connect with those families looking to share information. That's how she met Portland mom Penny FitzMaurice and her son Silas.

"We heard from every specialist, we saw that his constellation of symptoms does not match any known disorder, or syndrome," said FitzMaurice.

FitzMaurice says her 4-year-old was also diagnosed with ADNP syndrome after multiple rounds of genetic testing.

"Doctors were like here's the name of the syndrome and here's the two papers we found on the internet about it, and they recommended I join the Facebook group Sandra created," said FitzMaurice. "Once we did, my husband and I spent hours scouring through the post. The kids all looked exactly like our son. A lot of people were posting and said, 'my son does this, does anyone else's do this?' and we were like, 'that's exactly what Silas does.'"

Sermone's support group became a wealth of information for families. Soon, she began tracking symptoms and similarities of every child in the group and recorded them all on a spreadsheet. Her goal was to find diagnostic biomarkers that could help doctors diagnose children with ADNP at an earlier age.

"The thing I became obsessed with was teeth, the first question I asked parents when they would find the page was, 'did your child have a full mouth of teeth when they were one?'"

Sermone says she discovered 81 percent of kids with ADNP, that she had information, about also had premature primary tooth eruption by the age of one.

"When you can start to see these really great biomarkers that can diagnose a child at 12 months old you get excited and obsessed with it," said Sermone.

Sermone shared her findings with Gozes, who tells FOX 12 based on what Sermone discovered, she tested tooth eruption in partial ADNP deficient mice and discovered that when there is ADNP deficiency, tooth eruption is delayed, but in mice there are no primary teeth, only permanent teeth.  Gozes says her findings also suggests that ADNP regulates teething.

Gozes added that when they moved on to comparisons of gene expression, using the most advanced RNA sequencing technology, they discovered that ADNP autism related mutations are associated with dysregulation of bone related genes.

Working together, they helped publish that information in Translational Psychiatry as a potential way to identify children with ADNP who are at high risk of developing autism.

"I am all about getting kids diagnosed early," said Sermone.

Tony wasn't diagnosed early, which means he missed years of aggressive therapy that may have helped improve his quality of life.

Sermone says she's now determined to make sure other kids with ADNP get that chance.

"Intervention is key for autism, this is my big passion right now, getting out the info about the biomarker and getting kids diagnosed early," said Sermone. "Treatment is key. Treatment, treatment, treatment."

Sermone and FitzMaurice also just came back from Washington, D.C. where they raised awareness about ADNP at Rare Disease Week on Capitol Hill.

For more information about the ADNP visit: www.adnpkids.com

To join Sermone's support group visit: www.facebook.com/ADNPkids/?hc_ref=SEARCH

For more information on their findings visit: www.nature.com/tp/journal/v7/n2/full/tp201727a.html

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