Mariam’s Story
Mariam is a 13-year-old female from Toronto, Ontario, Canada. She was diagnosed with a CACNA1A variant at the age of seven. Her mother, Safaa, writes that they realized Mariam’s development wasn't typical when she was one year old. While she has a history of hypotonia, ataxia, expressive language delay, physical disability, and mild intellectual disability, her family is pleased that, for now, she continues to do well and hopes it will continue. Mariam is very social; she enjoys life and having fun. Her mother believes that with specific treatments and education, she will get to where she is meant to be. As the youngest of four, her siblings support and encourage her every day.
Variant:
Arg1351Gln or R1351Q
History
Mariam’s family spent years going to different hospitals due to her delays in walking and talking. In 2017, SickKids Hospital in Toronto finally diagnosed the CACNA1A genetic variant in 2017. Mariam’s developmental delays include motor delays, speech and language delays, and an intellectual disability. She is unable to walk independently and uses a wheelchair. She presents with bilateral ankle hypertonia and equinovalgus positioning of her feet, likely secondary to heel cord tightness and joint laxity of her lower extremities. Walking, saying certain letters, and focusing (she moves from one topic to the other) are difficult for Mariam. However, her memory and hearing are strengths!
Diagnoses
Hypotonia and ataxia
Intellectual disability
Motor delays
MRI shows mild cerebellar volume loss
Speech-language delay
Therapies/Education
Mariam attends school in a DD class. Physiotherapy, speech therapy, and occupational therapy have been helpful for her development and growth.
For Those Newly Diagnosed
Remember to love and accept your child the way they are. There is always room for improvement and finding new ways to navigate life for them. They are no different from anyone and deserve to live the same life with hopes, dreams, and goals. Some days will get frustrating, but the good days will always outweigh the bad. Having a support system around you is always helpful. This is one of the reasons we are joining the CACNA1A Foundation - to find other parents we can relate to and support. Stay happy and strong!