The good news is that the study was a success and a genetic basis has indeed been proven in mutations in the final (34th) exon of the SRCAP gene . If you're anything like me, and don't have a clue, every person has two SRCAP genes, one from their mother, and one from their father. In the case of FHS, these genes mutate during conception. In Maxine's case, specifically, one of her SRCAP genes mutated, which is enough to cause Floating Harbour Syndrome.
Floating Harbour Syndrome is a rare genetic condition characterised by short stature, distinctive facial appearance, and expressive language delay. I consider ourselves to have been very fortunate to get the diagnosis we did for Maxine nine years ago, which enabled us to get the support she needed from a very early age.
As rare as what Floating Harbour Syndrome, so too is the wide range of disability within it. Some children can't speak at all, others speak fairly normally. But they share many common traits, all of which hold true for Maxine.
What has made me feel a bit 'odd' is that the study proved that it was just a genetic blip. For years I had always held onto the thought that I was responsible for Maxine's genetic blip because she looks so much like me. It's hard accepting after all these years that can't be true.
Maxine will enter an exciting new phase in her life in September as she joins the new academic year in Secondary School. She is moving from Mainstream to a Specialist setting, where focus is placed on individual strengths and practical knowledge, not just on academic results. It wasn't an easy decision to make as parents, but it was definitely the right one for Maxine.
Our hope for Maxine is that she will be happy as an adult - it doesn't matter what she becomes, so long as she can accept she's different and that's okay...more than okay, in fact....
she is an absolute gem..
She truly is our sunshine!
Thank you for blogging more about the medical condition that Maxine has. Your love for her shines through your posts, and I believe that she is a unique little girl that gives you much pleasure. I also have so much respect for the way that you have come to terms with the condition and that you have peace.
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