Kyrie’s Story
Kyrie was born in 2017 in Jacksonville, FL, and is 5 years old. He is very social and playful and loves to babble. Kyrie has not yet learned how to sit, stand, or walk independently. However, he has great leg strength and loves to stand up with assistance.
Variant: R1349Q
History
According to Kyrie's mother, Kiaharra, at Kyrie's 6-month wellness visit, his pediatrician noticed that Kyrie seemed floppy and thought he might have a lazy eye. As Kyrie was also late reaching developmental milestones, the doctor referred us to ophthalmology and physical therapy. The ophthalmologist did not see a lazy eye but diagnosed Kyrie with nystagmus and myopia (nearsightedness). More importantly, he referred Kyrie to neurology, and we are grateful that he had the foresight to do so. The neurologist noticed Kyrie's abnormal movements and, as a result, did lots of testing for seizures and neurological disorders. All his testing (EEG, MRI, CT, blood work, urine sample) came back normal, so he was then referred to genetics, where Kyrie was finally diagnosed with a CACNA1A variant at two years old. In retrospect, we feel lucky we received a diagnosis so quickly. This diagnosis is de novo, as there is no history of CACNA1A in our family.
Diagnoses
CACNA1A
Hypotonia
Myopia (nearsightedness)
Nystagmus
Ataxia
Developmental Milestones
Kyrie did not learn to roll over until he was about one year old. He also started saying “mama” and “dada” around one year old but very soon after, lost the words.
Kyrie does not like to do things on his own, such as feeding. He also does not like to work on sitting up. He never took naps at daycare and did not sleep through the night until he was almost three years old.
Education/Related Services
Kyrie receives physical therapy, occupational therapy, speech therapy and music therapy. He also uses an eye gaze speech device to assist him with his education and communication.
For Those Newly Diagnosed
Don't panic and take it day by day. Do not be afraid to ask for help and build a support system. This probably goes without saying, but be sure to make it to all appointments!
