Alfie’s

Story 

Alfie is from Bury St Edmunds, England. His mom, Shannon, writes that Alfie has a wonderful sense of humour despite his difficulties and is very determined. They began to notice developmental delays when he was three months old, and he received the CACNA1A diagnosis at the age of two. His variant is autosomal dominant, as Shannon carries it.

Variant:
Pathogenic de novo Mutation

History 

According to Shannon, she, her husband, and Alfie gave genetic samples to be tested when Alfie was a small baby due to his various difficulties. At the time, Alfie was presenting with paroxysmal tonic upgaze (from birth), macrocephaly & development delay. Later on, it became apparent he also had dysphagia & global development delays. Recently, they discovered Alfie is also on the autism spectrum, although it was something they always suspected.

At two years old, Alfie presents with global development delays, autism & pica. He has little communication abilities, including making eye contact. He doesn’t particularly enjoy playing with toys or other people. He can get frustrated quite easily, especially around new people. He has very accurate fine motor skills.

Therapies 

Alfie receives speech and language therapy and physiotherapy. Speech and language, Occupational therapy, a specialist health visitor, and physiotherapy have been extremely helpful.

Other Diagnoses

In addition to paroxysmal tonic upgaze, macrocephaly, and global development delays, Alfie also has dysphagia, hypermetropia, an autism diagnosis, and possible ataxia. He is visually impaired.

For those newly diagnosed

Enjoy the moment!