Kamdyn | April 24, 2013
Kamdyn Ava was born full term on April 24, 2013, weighing 5lbs, 14 oz. She is the middle child of 3 girls. I had an easy pregnancy with no complications, and an easy labor and delivery. A vivid memory that I will never forget was just a few minutes after Kamdyn was born. One of the nurses was overhead saying “special babies do that with their hands”, referring to Kamdyn's clenched fists with her thumbs tucked under her fingers, instead of outside them. This didn’t register in my mind at the time that anything could be wrong. Everything had just gone perfectly to plan. She was beautiful, she was here, my pregnancy was great, ultra sounds always looked perfect, etc….so I didn’t think anything about what we overhead the nurse say.
The first indication of anything being wrong came when Kamdyn was 5 weeks old. It became very obvious that she was struggling to breathe. She sounded like she was snoring when she was awake. Her chest would concave every time she inhaled and it looked like she struggled to get air with each breath. She was immediately referred to an ENT for evaluation, and was diagnosed with laryngomalacia (basically floppy tissue in her airway that was obstructing air flow). She was also diagnosed with obstructive and central sleep apnea. She had corrective surgery at 4 months old to correct the laryngomalacia, and almost instantly started gaining weight. She had been diagnosed as failure to thrive and was very behind on her weight and overall growth prior to surgery.
At 6 months old Kamdyn still crossed her eyes, had trouble tracking and focusing, and never made eye contact. She was diagnosed with strabismus and had corrective eye muscle surgery when she was 10 months old. This corrected the eye crossing problem and helped with tracking, but Kamdyn still didn’t make eye contact.
Kamdyn started early intervention therapies 3x a week in home at 7 months old. She has hypotonia and was delayed in all milestones. She received physical therapy, occupational therapy, speech therapy, and vision therapy. Kamdyn sat up unassisted at 7 months old, crawled at 14 months, and walked unassisted soon after at almost 15 months. She wore SMO foot/ankle orthotics for stability for a few years, which gave support while learning to walk with hypotonia.
At 2 years and 3 months old, we received Kamdyn’s whole exome sequencing results and learned about her SYT1 genetic mutation. We were devastated and heart broken, and felt lost because of the lack of information and understanding of SYT1 disorder. As hard as it was to hear a diagnosis, it made sense and was almost a relief that we had an answer to all the “why’s” that were wrong with our baby.
At age 5 Kamdyn started kindergarten full time in a public elementary school. She was in a self contained special education class, where she continued to receive speech, occupational, physical, and vision therapies weekly. She received an official autism diagnosis around age 9. Kamdyn is almost 11 and finishing up 5th grade in the same elementary school. She has been blessed with amazing teachers, paraprofessionals, and therapists over her 6 years in elementary school. She will start 6th grade this fall in a new middle school.
Kamdyn was a very content and happy baby. She never cried, ate well after laryngomalacia surgery, and slept a solid 10-12 hours a night. At age almost 11, she still eats well, and still sleeps 10-12 hours straight.
She has gotten 2 EEG’s over the years to check for seizures. Neither showed seizure activity, but both showed abnormal brain activity.
As Kamdyn has gotten older, her self harming behaviors have gotten worse. She beats her forehead on the floor, or smacks her face when she is mad or upset. She will throw objects, pinch, scratch, bite, and pull hair on other people. She is extremely impulsive and hyperactive. She takes guanfacine to help calm/slow her down, and also takes risperidone to help stabilize her moods. Kamdyn has no interest or understanding of potty training. She is nonverbal, but has a few sayings such as “hi there”, “ready set go!” and “sit”. She occasionally uses buttons with prerecorded messages she presses to say “I’m hungry” and other needs. She doesn’t use electronics such as iPads or AAC devices due to her throwing and destructive behaviors.
Kamdyn has always been extremely oral and licks/chews on everything. She used a lot of silicone chewy necklaces when she was smaller, but doesn’t like them around her neck as much as she’s gotten older. She has always been a sensory seeker and loves movement. Her favorites have always been swinging, spinning, jumping, water/swimming, and wind/air movement. She loves golf cart rides, side by side rides, boating, and anything that goes fast!
Kamdyn can follow some simple step directions, but this all depends on her mood. She can be very cooperative, but can also be completely uncooperative and difficult to predict. Simple things will set her off into a tailspin and she has a hard time coming down from her fits. The best thing to help her is removing her from the situation and putting her in her bed to calm down in a quiet place. She has a hard time with new settings, transitions, loud high pitched noises/voices, and unfamiliar routines.
We were so happy to find a special needs bed years ago that has made our lives so much easier when it comes to sleeping and quiet time needs. It’s called a Safety Sleeper made by Abrahm’s Nation, and I highly recommend looking into one if your child wanders and won’t stay in bed. Kamdyn LOVES her bed and will take her favorite books and toys into her bed and sometimes puts herself down for naps just because she loves being in her safe space. She also loves flipping through books and babbles to imitate reading, and enjoys toys that light up and play music.
We learn something new from Kamdyn all the time and love her to the moon and back! We’d never wish this disorder, or any disorder, on any family or child, but we are thankful that Kamdyn was given to us to help guide her on her life journey. We’re also thankful for all of you and this BAGOS community. We hope to continue learning with you, advocating for our children with you, and pray that one day we can celebrate a cure with you!