What We Know

May 20, 2015

I’ve done a pretty poor job of communicating consistently with our loved ones regarding Baby Jesse.  So, if anyone’s reading, here’s a short post detailing what we do and do not know.

Since I declined amniocentesis, we will not have an official diagnosis until our son is born.  Therefore, our doctors are basing the diagnosis on the following abnormalities:

An extra bone in each hand and foot (seen on ultrasounds)

Several hypothalamic hamartomas (seen on MRI)

Thickened nuchal fold (a “soft marker” for syndromes)

There are a number of other physical abnormalities that a child with Pallister-Hall syndrome could exhibit.  We will not know those until birth or beyond.  However, we are thankful to report that the doctors are not immediately seeing some of the things in utero that might indicate these other abnormalities.  So, for example, while they cannot see an imperforated anus or a bifid epiglottis prenatally, they can sometimes see byproducts of these abnormalities, like dilated kidneys or extremely small stomachs.

And, obviously, we cannot know whether he will have the gelastic seizures, the precocious puberty, the decreased pituitary function, the cognitive or developmental delays, and a host of other symptoms that can come with this syndrome.

We know that Baby Jesse weighed in at around 2 lbs., 7 oz., on Monday when I was 27 weeks pregnant.  They are pleased with that size and with his movement and activity, and my fluid levels and the appearance of my placenta.

We also found out that I have a low platelet count (107 vs. the desired 150+, with < 60 being alarming).  I will receive some further testing to determine the cause.  The typical culprits in order of likelihood: gestational thrombocytopenia, preeclampsia, and a preexisting underlying condition.  We should know more by next week and are thankful for your prayers.




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