Logan’s Version Of Pitt Hopkins

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Logan, at around 2 years old.

When we were first diagnosed with Pitt Hopkins, our doctor told us not to compare Logan to the statistics that we found on the internet.  He said that since this is such a rare syndrome the information available is outdated, and certain aspects may or may not apply to her.  This was both a sigh of relief and a shock.  How is it possible that, in these modern times, there can be such little information about something affecting hundreds of children and young adults?!  It is beyond frustrating.

So, Logan does not have some of the most common characteristics of this syndrome.  She does not hyperventilate, she does not have any known

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Where We Began

For the past three years Logan has been our little mystery.  She was born in the summer of 2012, and was by far my easiest pregnancy and delivery!  She was a happy, healthy baby, full of smiles and giggles.  She was a dream baby!

At around 6 months we started noticing that she was not meeting some of her milestones.  She was not rolling around regularly, and she was not sitting unsupported for more than a few seconds.  Our pediatrician suggested we waste no time in figuring out why.  What could it hurt, right?  Before we knew it we had appointments with neurology, developmental specialists and genetics.  She had an MRI that was completely normal.  The developmental specialist could not see anything wrong with her, suspecting that she Continue reading