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Atlanta, Georgia
11 years old
October 13, 2021

Jansen

Jansen's journey began 11 years ago in October 2010 when she came into the world a few weeks early in our hometown of Atlanta, GA.  Jansen was a typical baby, although she appeared to feed often without gaining weight.  We attributed this to Mom’s insufficient milk supply, so pumped into bottles and added formula supplements.  That did the trick, but we now realize that Mom’s milk wasn’t the issue -- Jansen’s oral muscles just weren’t strong enough for her to breastfeed.  

When Jansen was 4 months old, we noticed that she preferred to curl into a ball rather than stretch out and use her legs.  She never stood or bounced on our laps like many infants, so we visited a physical therapist at Children’s Healthcare of Atlanta.  Shortly thereafter, at 5 months of age, Jansen was diagnosed with global developmental delay, hypotonia (low muscle tone), and an inability to bear weight on her extremities.  This diagnosis caught us off guard, but we quickly enrolled Jansen in physical therapy and applied to Babies Can’t Wait for early intervention services.  As Jansen grew into a toddler, we added more therapies and became increasingly worried about Jansen’s lack of babbling and pronouncement of her first words. We registered Jansen in special needs programs at preschools and searched the country for answers.  When Jansen was age 3, we first submitted her DNA for genetic testing.  Results were inconclusive.  

At 5 years of age, Jansen started having infrequent and fleeting staring episodes.  So, back to testing we went.  Jansen was diagnosed with Absence Epilepsy at age 5 ½.  Still, doctors remained befuddled by Jansen’s growing list of complications.  Fast forward five years.  Among other symptoms, Jansen now suffers from epilepsy, a severe intellectual disability, speech and language difficulties (she speaks in 3-4-word phrases), low muscle tone (hypotonia), general fatigue, sleep problems, gait abnormalities, coordination & motor skill issues, eye problems, growth decline, high pain tolerance, and behavioral concerns.

We never gave up searching for answers, despite being told to do so.  As our anxiety ratcheted up over the years, and our dreams faded, we simply worked to provide Jansen with the best life we could.  Easier said than done when facing the unknown!  But, on Dad’s birthday in September 2021, our desperate wish for clarity came true.  Despite having already completed extensive genetic testing (including 3 rounds of Whole Exome Sequencing), Whole Genome Analysis finally solved our mystery.  The underlying cause of Jansen's struggles is SYNGAP1.

Jansen is an adrenaline junkie – the faster, the better!  She adores all animals, especially horses whom she rides through therapeutic horseback riding.  Swimming, playing special needs baseball, working puzzles and sticker mosaics, and adaptive skiing are highlights for her.  Our pride in Jansen’s accomplishments, such as riding a bike and daytime potty training, is immense – Jansen truly makes us appreciate milestones in life that, to some, are a given.  

Jansen does not particularly enjoy school – it’s tiring and challenging for her.  But she does like socializing and benefits from working on reading, writing, and math.  She also enjoys games on the iPad more than we’d like! Jansen plays with all forms of toy vehicles (cars, trucks, planes, and more), loves dressing up in costumes, and has fun building Legos.  Jansen’s older brothers, Wyatt and Porter, are usually quite solicitous of her.  While she can frustrate them, watching our teenage sons act protectively and do their best to manage Jansen’s outbursts is heartwarming.  We are especially grateful to them, since Jansen has “fired” many babysitters.  Jansen is sweet and cuddly, but can act out (spit, bite, growl, throw things, etc.) when she doesn’t get her way.  It has been astonishing to learn that these behaviors, as well as fearlessness, high pain tolerance, and delight in all things water are indicative of SYNGAP1 children.  

We are tremendously grateful to have found answers for our Janey Bear.  We see the very real possibility of a CURE and believe that, together, we can make a difference in the life of Jansen and other Syngapians.

- Suzanne and Brent Jones

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