Date of Birth:
November 12, 2007
Birth story to age 1:
Liz was born at full term following an uncomplicated pregnancy. As infant, she struggled with sleep and feeding. At 8 months of age, we noticed that she was not meeting her developmental milestones. She was referred to a Neurologist and was diagnosed with hypotonia. She started physical therapy which helped her gain the strength to roll over, sit up and eventually walk at 21 months.
Toddler age 2 to 4:
Liz continued to show significant delays in most areas of her development. She did not start speaking and was referred to speech therapy. In addition to the physical therapy that she was already doing, she started occupational therapy to work on coordination, balance and fine motor strengthening. She continued to struggle with feeding and started feeding therapy. She continued to see a Neurologist and also saw a Geneticist. Her initial genetic testing at that time (a chromosomal microarray) was normal. The reason for her delays remained a mystery to us during this time.
Child age 5 to 9:
At age 5, Liz was still not speaking and continued to be significantly delayed. She was diagnosed with Autism Spectrum Disorder and started attending an ABA therapy center. There, we started to see significant gains in the areas of communication with a speech device, regulation of behaviors and toilet training. At age 5 she had her first seizure and was subsequently diagnosed with epilepsy. During this time, she started seeing a Developmental Pediatrician in addition to a new Neurologist who specialized in seizures. We were encouraged to revisit the available options for genetic testing, because the technology had improved significantly. She had additional testing done (whole exome sequencing) at age 9 and was diagnosed with the STAG1 gene mutation.
Pre-teen age 10 to 12:
During this time, Liz went to the public school system for 2 years and we decided that it was not the right fit for her. She had learned much better with ABA therapy and so at age 12, she started at a new ABA therapy center. During this time, she was diagnosed with ADHD and started on medication. This significantly helped her sleep as well as decrease her impulsive behaviors. At age 12, she was diagnosed with scoliosis. She is followed by a Pediatric Orthopedic Surgeon and thankfully has not required surgery.
Teenager age 13+:
Liz continues to attend a full-time ABA therapy center. With the onset of puberty, she started having more frequent seizures and we have been working with her Neurologist to find the right medication to treat them. She is still non-verbal and communicates with gestures and short sounds. She has a communication device which we are working on getting her to use more. We have also been teaching her ASL.
STAG1 Gene Mutation, Autism Spectrum Disorder, Epilepsy, ADHD, Scoliosis, Expressive Language Disorder, Intellectual Disability, Constipation.
Over the years, Liz has struggled with sleep and feeding. While sleep has improved with medication, she continues to be very restrictive in the foods that she is willing to eat. She has challenging behaviors at times, primarily when she is challenged to do something or doesn’t get what she wants. Communication continues to be a challenge as she is non-verbal.
Liz is very social and affectionate. She loves to give hugs to anyone kind enough to accept one. She is almost always happy and has an optimistic outlook on life. She loves music, dancing, outdoor playgrounds and children’s YouTube videos. She loves her parents and her two older siblings. She is a bright light in our lives and we have learned so much about life and love from her. You can follow her at “Lessons from Liz” on Facebook.