“My little guy” – Jane

James and Charlotte as babies

“My little guy” – Jane

My little guy is now 8 years old and was diagnosed with Creatine Transporter Deficiency (CTD) at 19 months of age – well before we were emotionally prepared to deal with the implications of such a diagnosis.  “Will he need extra help in math class or will he not be in a math class?” was a question my pragmatic engineer husband asked the metabolic geneticist who delivered the news.  James has changed us in so many ways.

James’ twin sister, Charlotte, has only ever known James as he is.  I suppose we all have, but she’s unaware that we thought he’d be different.  We didn’t realize that something wasn’t quite as it should be, until James was about a year old.  “They’ve been together their entire lives – since always” the nurse at the hospital reminded me, shortly after they were born.  At such a young age, Charlotte has developed an enviable level of empathy beyond her years, and a resilience to match.  These are skills many adults sorely lack.

The way I view the world, appreciate the little things life has on offer, how I long ago stopped sweating the small stuff and learned to just be in the moment – these are all because of James and, by extension, Charlotte.  It’s a tough journey where some days require (a lot) more patience than others, but it’s such an indescribably special feeling to reap and celebrate the rewards of a skill gained or a milestone reached.  All things my old self would have taken very much for granted.  I need to remind myself of this on the tough days – we all do.

I look forward to sharing our CTD journey with you in the months to come.

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