Liberty student perseveres with rare disease

Teresa Smith and her daughter Lakely Stapler are happy that Gov. Robert Bentley declared Sept. 18 as Pitt Hopkins Syndrome Awareness Day. (CONTRIBUTED)

MADISON – Lakely Stapler, a student at Liberty Middle School, hopes other people will be aware of her situation. Gov. Robert Bentley helped Lakely’s cause by declaring Sept. 18 as Pitt Hopkins Syndrome Awareness Day.

Teresa Smith, who is Lakely’s mother, asked the governor for the proclamation to raise awareness about the rare disorder.

HudsonAlpha Institute of Biotechnology in Huntsville diagnosed the disease for Lakely. Pitt Hopkins Syndrome “is a very rare and severe neurodevelopmental disorder caused by a mutation of the TCF4 gene on the 18th chromosome,” Smith said.

The disease is characterized by significant physical delays, severe intellectual disability, possible breathing complications and seizures. The disease crosses racial, ethnic and gender boundaries. The disease is so random that Lakely’s twin brother, Tristan, does not have Pitt Hopkins Syndrome.

Smith’s co-workers at The AEgis Technologies Group Inc. recently held the “Paint for Pitt Hopkins” fundraiser and organized a “Love for Lakely” Golf Tournament on Sept. 21 at Canebrake Club in Athens.

Money raised from those events will benefit the Pitt Hopkins Syndrome Research Foundation (pitthopkins.org).

In addition, Liberty students have shown their support for Lakely with “Pink Out Day” in her honor. “It’s just been awesome how everyone has reached out to her,” Smith said about Lakely’s classmates.

Smith also expressed gratitude for support for Lakely from Maria Kilgore, Director of Special Education for Madison City Schools.

By analyzing the TCF4 gene, researchers may gain insight to other disorders such as Alzheimer’s, autism, epilepsy and Parkinson’s disease. Only an estimated 500 people worldwide have been diagnosed with Pitt Hopkins.

To view an informative video, visit https://youtu.be/WEYzwPEX-KE. For more information, visit pitthopkinscare.org, pitthopkins.org.uk or pitthopkins.org.