Meet the Bushman Family


Eliza is a spunky, mischievous almost 3 year old who loves Daniel Tiger, pretzels, and teasing everyone she meets. She is the youngest of 4 kids, and is completely adored and doted on by her older 3 siblings who have all become very capable therapists and caretakers.

We received her CTNNB1 diagnosis when she was 10 months old, after many tests and procedures that eventually led us to whole exome sequencing.

Eliza had IUGR in utero and was born at 36 weeks weighing 4 lbs 6 oz and spending 3 weeks in the NICU. By the time she was 4 months old she had been diagnosed with failure to thrive, global development delay, microcephaly, hypertonia, strabismus in both eyes, and cerebral palsy based on MRI findings that included a small pre-germinal hemorrhage. At this time we started aggressive PT and OT both outpatient and in home through early invention services, as well as vision therapy, feeding therapy, and hippo therapy.

When she was 7 months old she had surgery to correct the strabismus in both eyes and soon afterward she began making eye contact, interacting, and showing interest in the world around her for the first time. This quickly led to her trying to reach and roll and we saw her determined spirit emerge. She eventually began sliding around on her back by digging her heels into the ground and learned to explore the world this way. She began to sit up on her own at 19 months, and within just a couple months of that milestone she was able to pull herself to stand against the couch and started scooting everywhere on her bum. She was fitted with her first pair of DAFO’S and a tiny reverse walker at 20 months old.

Around this same time, after a year of speech therapy, she wasn’t showing any signs of speech development. We ramped up our sign language efforts pretty aggressively and she began communicating with a few signs within a few weeks, and was up to 30+ signs within 2 months. We were shocked and overjoyed when she suddenly started talking and went from 0 to 30 words practically overnight at 23 months! She progressed rapidly to using 2-3 word phrases by 27 months and full, intelligible sentences by 30 months. She also took her first steps without a walker at 30 months, and currently only uses her walker for distances and uneven terrain.

Today Eliza is bright, cheerful, precocious, and very socially/emotionally intuitive. She loves cleaning up messes, feeding herself with a fork or spoon, playing dolls and doctor, stories, coloring, and bossing everyone around. She is still very tiny for her age and is currently potty training somewhat successfully. She is a joyful hilarious little girl with a great sense of humor who we love to hear yell “Yay! I’m so happy you came back!” as she rocks and throw her hands up in excitement every time we return home.

Eliza is starting special needs preschool in March and we’re nervous and excited for this milestone. We have been completely blown away by how she has progressed so far, and wonder if this developmental pace will continue or if there is a plateau or regression coming our way. We worry that in the long term she will be bright enough to recognize and bemoan her differences, and that she won’t get the support she needs because she may appear nearly typical in some areas.

We are so grateful for the resources and help we’ve had along this journey, and love hearing about the trials and successes of other CTNNB1 kiddos.


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