• Variant: (959T>C) (166167094T>C) (l320T)
  • Non-verbal, Developmental Delays

Hi, I'm Harper.

Harper's smile and laughter light up the world!

Harper was born a healthy little girl in November of 2013. She was developing on track until April 2014 when she was diagnosed with Infantile Spasms. By the grace of God, we were able to get control of her seizure activity within the month, however, as a result of the medications used, her development regressed back to newborn stage, and so her therapy journey began.

At six months old Harper began working with PT and OT and while it was a very SLOW go, Harper did eventually learn to sit/crawl/walk/etc. Harper was very delayed in meeting her milestones, and continues to be significantly delayed at this time.

In 2016, after concerns arose regarding Harper's brittle and short hair (which would fall out every few months), along with her other delays, it was decided that she would undergo full genetic testing.

In February 2017, we were again given test results that would forever change our lives. At this time we received confirmation that Harper's Infantile Spasms were likely the result of her SCN2A Dx. Along with this, we also learned that Harper is affected by SKIV2L (Trichohepatoenteric Syndrome). This is an extremely rare genetic mutation which causes her hair to fall out, as well as causes additional delays.

While we were struggling with the everyday struggles that came along with Harper's exceptional developmental/cognitive needs, we were informed that both genetic findings could be fatal in other children. Essentially, it could be SO MUCH WORSE! As I (mom) was a dominant carrier (unknown) of SCN2A, and as parents, recessive carriers of SKIV2L, we were advised to seek medical intervention in our hopes of growing our family. That then started our personal journey of IVF/PGD (preimplantation genetic diagnosis).

As a family we were quickly becoming experts in all things we never thought we'd need to know about; seizure disorders, therapies, special education, genetic disorders, SO MANY DOCTOR APPOINTMENTS, fertility doctors, IVF, egg donors, etc. All the heartache, stress, financial burden, etc. paid off and Harper now has two younger siblings, Wes (4yo) and Mila (20months).

Harper continues to struggle developmentally. She receives special education at school and has a 1:1 aide at all times to ensure her safety needs are met. Harper also is non-verbal. After years of speech therapy, it was determined that Harper's best option of communication would be through an AAC device. She blows us away each day with her knowledge and ability to navigate her speech app and effectively communicate with us!

She has such a good sense of humor, and it's so fun to see that come out! As a result of her communication needs, Harper does struggle behaviorally, and while she is not Autistic, she is receiving ABA therapy in a clinical setting, which has been another Godsend for her and our family. Each day is full of power and control struggles with our sweet girl, but overall, knowing what COULD BE, she's simply amazing.

Harper is absolutely loved by all that know her. She has a smile and laugh that will brighten the darkest of days. She loves swimming, horse back riding, jumping on the trampoline, watching her YouTube Kids videos, and simply being around people. She is an empathetic little girl always wanting to give hugs and kisses. She is known by EVERYONE :) and absolutely loves the attention that comes along with that!


Our goal is to find a cure!

Did you or your child just receive a new diagnosis of SCN2A? If so, please know you are not alone!