Isobel’s story

Only now, at the age of 34, Isobel (Issie) has a diagnosis. It’s called Glass Satb2 Syndrome and perfectly describes Issie : severe intellectual disability, complete lack of speech, sleeping problems and the list goes on. Her blood was sent to a laboratory in Finland for whole genome sequencing, resulting in this syndrome which I’d never heard of.

There seem to be only 700 confirmed cases internationally and I have yet to find another in NZ. The cases I’ve read of are children and adolescents and I’ve yet been unable to find anyone older than Issie.

Issie was originally diagnosed as autistic which I felt was misleading but of course clinicians, therapists and teachers latched onto this. This led to years of misunderstanding and often hurtful reports. Issie was seen to be uncooperative and obstinate when she couldn’t carry out a task, a task she simply wasn’t capable of due both to limited understanding and lack of dexterity.

Rett Syndrome seemed more apt. Issie has always used her eyes to communicate and is quite loving when people make an effort to understand her. The kindness of strangers when we’re out and about have kept us going. Issie loves kids movies and live shows, cafes and people watching.

Now we have an answer, an answer by the strange name of Glass. I don’t know how Issie’s future will pan out though I hope she will be accepted as she is. This would be my ultimate hope.