Amelia A.

Amelia’s mom writes:

First, We want to thank you for the opportunity to introduce our family.

We are originally from Colombia and came to this country 15 years ago to follow our American dream. At the time, as a recently married couple, we had all the hope for our future. That future came with hard work and 3 beautiful daughters Violeta 9, Amelia 7 and Lourdes 3. It has been an incredible journey to have them in our lives. However, it came also with challenges we have never pictured in our dream.

After countless visits to doctors and specialists, exams and different genetic testing Amelia was diagnosed in 2018 with a rare disease called Syngap1. 4 years ago she was one of 200 patients in the world, today we have over 1,200 kids and adults diagnosed with this rare disease.

Syngap1 is a rare genetic disorder caused by a variant on the SYNGAP1 gene located on chromosome 6 and is responsible for producing the SynGAP protein.

The lack of this important protein makes it difficult for neurons to communicate effectively causing many neurological issues such as epilepsy, intellectual disability, sensory processing disorder, Dispraxia, Apraxia (non verbal), behavioral problems, Autism Spectrum Disorder, sleep problems, gross and fine motor skill delays, etc.

Amelia requires supervision at all times. She needs help with feeding, dressing, change of diapers etc. Although she is mobile she could get into trouble easily, and likes to explore the world without assessment of danger or risk. She also likes to elope. 

Despite of the challenges this terrible disease brings to Amelia’s life and our family, Syngap1 does not define our daughter. She is unique, feisty, resilient, happy, silly and a loving beautiful human being. She loves her family, water, animals, outdoor activities, and music. Amelia loves to wear costumes and is obsessed with Latex gloves.

Amelia goes to Limestone Creek Elementary full time to an ESE classroom. She loves school, is motivated and likes to participate in class. Her learning process is very slow due to her Severe Intellectual Disability.

We have a busy schedule. She also receives speech therapy, PT, OT, ABA therapy at home that has helped us tremendously in redirecting aggressive behaviors and to promote more independence, within our goals are potty training and self-care.

As family we also give back to the hispanic community by supporting new Syngap1 diagnosed families in Latin America and in the USA providing valuable information, guidelines and advocacy in Spanish to them.

Amelia’s service dog will help her with transitions and seizures. We have seen the magic of the service dogs on other kids like Amelia. 

Thank you once again for the opportunity and for your amazing job helping other families.