Processing

Today was Spencer Echo.  It took two doses of meds to get him asleep for it, which made it take forever to wake up.  the medicine also made him super irritable.  And I was stuck three hours from home with a cranky two year old.  We stopped by the brace shop before his last appointment of the day.  He insisted on getting down and crawling, but could hardly crawl and kept running into stuff.  I got the stink eye from every parent and old lady in the waiting room. 

Anyhow...the Echo results were not great.  His inflamation on the right side of his heart has increased.  His PFO is no longer just a harmless PFO, it's a full blown ugly ASD.  He either has one huge hole in his heart or several small ones close together.  The cardiologist doesn't remain confident that he would be able to do a cath repair.  We are having an "ongoing conversation" on open heart surgery.  This scares the hell out of me.  It's minor as far as open heart surgery goes, but still.  He will also have an epic scar from it.  We are likely going to start scheduling different tests when we go back in three months.  Yup, my kid went from a once a year followup kid, to a full blown cadio kid. 

On the plus side, being on supplemental oxygen may actually make his ASD worse.  Cardio wants to keep him off it if possible.  We'll see what Pulmonary says and will likely have to do a repeat sleep study.  Have I mentioned how much I hate sleep studies?  I would rather have them cut off my hand than him have to have another one.  It's a nightmare for a sensory kid. 

I'm having a hard time processing everything.  One of the cardiologists made sure I wasn't doing the panic...and I wasn't until I talked to the actual cardiologist.  He didn't sugar coat things very well.  Normally I like straight to the point, incredibly poor bedside manner docs.  I was completely floored by this appointment and needed all the sugar I could get.  I expected to go in getting told his hole was getting smaller and everything was going great...come back in a year.  Spencer's heart defects have always been the last thing on our minds...now it's bumped up to the top of the list.  We'll see how things go.  Surgery is no longer an if, it's a when.

Spawn

     So I'm pregnant again.  We're pretty happy about it, but naturally nervous.  Lightening doesn't strike twice, does it?  It's kind of a whole big bag of emotions.  We didn't think we would have more children.  I've always wanted more, but we didn't want to risk having another child with Ohdo Syndrome and have it go through everything that Spencer has.  We became a little more open to the idea when Ohdo became Spencer's clinical diagnosis.  I was completely on board when they found the gene in November and that it was a de novo syndrome, meaning non-inherited.  We know now that Spencer genetically has Say Barber Biesecker Young Simpson Ohdo Syndrome.  We know that for a fact and that the chances of another kid having it are less than 1%.  But still....we're nervous.

     I worry that this child could have another one of Spencer's genetic conditions.  Of course I didn't think of any of this until after we found out Spawn 2 was on the way.  Spencer has Pierre Robin Sequence, which is likely just related to his Ohdo Syndrome (but could be caused by a mutation elsewhere), but he also has a few issues that aren't explained by his diagnosis.  His urologists suggests there may be another genetic condition floating around in him. 

     Tomorrow is the ultrasound to see how far along I really am and to make sure the kid has all it's parts.  I'm more eager for the anatomy scan, as now we know what to look for.  We will love this child any way it goes, but typical would be nice for a change.

     On Spencer's end, he's doing amazing.  He decided he wants to start eating like a champ.  We've been slowly trying to work some dairy into his diet, which seems to be going well.  He loves white cheddar puff corn.  He figured out the sign for more recently and actually signed for "more" cheese corn the other day.  We shared some marshmallows earlier.  He constantly has food all over him, which is nice to see.