HNRNP Awareness Week takes the stage

MANKATO, Minn. (KEYC) - This week is the awareness week for a neurodevelopmental disorder with 10 different variants called HNRNP.

HNRNP-related disorders are caused by mutations in what is called the HNRNP genes. They are distinct with overlapping clinical traits, signs, and symptoms.

One kid in Mankato has one of the 10 variants. He is eight-year-old Isaac Soule. His variation of the disorder is called HNRNPQ or SYNCRIP. With this disorder, he was diagnosed with the traits of autism, global developmental delay, low muscle tone, vision problems, structural abnormalities in his brain, and epilepsy.

Isaac’s parents, Andrew and Catharine Soule, hope that bringing attention to this awareness week will help raise funds to hopefully get research and treatments to help their son and other kids like him. They also want others that are dealing with this just like them to know that they are not alone.

“Don‘t feel alone because it is amazing the way you can connect with other parents and with the Internet these days,” said Andrew Soule, Isaac’s father.

It is important to remember that traits, signs, and symptoms vary from person to person and variant to variant. These include developmental delay, intellectual disability, epilepsy, motor skills delay, behavioral differences, differences in brain structure, low muscle tone, skeletal differences, vision and eye problems, and distinct facial features that vary by variant.

To find more information and donate, you can go to www.hnrnp.org.

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