Screw it, we're just calling it Spencer Syndrome

Just got back from an overnight stay in Cincinnati.  Spencer had some labs drawn, a ortho followup, a visit with Trauma Services, a sleep study, and a genetics follow up.  It's been an exhausting couple of days and we get to go back Sunday to do more testing and appointments.  Joy. 

Let's start at the beginning....Spencer had his tests done for school....Hemoglobin and Lead....His hemoglobin is 15.3 and his Hematocrit is 43.7.  Both are high, but if I remember right it's common with kids with heart or airway problems.  I'll ask his pulmonary doc when we are there in a couple weeks.  He also had his lead level tested which was super low, something I've been super paranoid about since moving into our ancient house.  He also had a renal profile and blood gas done, which both look pretty good as well.

Then came the Trauma Services appointment.  Basically we were there discussing whether or not Spencer needs a special needs car seat since he's outgrowing his current one.  He does not and we scored a free new combination booster seat. 

Then we went to see Dr. Tamai, his foot orthopedic doc, for a club foot followup.  There was a kid there at the same time we were that was named Nicholas Spencer, which gave us all a good laugh.  Anyhow, his feet look great and everything fits pretty good.  We did discuss a potential foot surgery in the next year or two, if his right ankle doesn't straighten up.  Either we would release a tendon or put a pin in the growth plate.  We'll cross that bridge when we get to it. 

Sleep study blew.  First we had to wait forever for his first dose of Chloral Hydrate to show up.  I wouldn't let them touch him until he went to sleep.  He woke up at some point during the hookup and went in to sensory meltdown.  I requested the second dose of medicine, which you would think they would have sent up to the floor already considering it was such a pain in the ass to get the first one.  That took another hour.  You could just see the RTs getting antsy because of time.  It took me forever to calm him down and I finally did shortly before the medicine came in.  I was about to cut someone's throat.  Anyhow, got him back asleep and hooked up finally about 11.  He slept most of the night and only woke up to grump a few times.  We should have the results in a couple of weeks.  If this went well, it should be our last one and we can get rid of the oxygen equipment in the house. 

Finally, genetics.  We "graduated" to once a year appointments today.  We discussed Spencer's gene mutation on Chromosome 10q22KAT6B.  There is another syndrome that shares some of the gene mutations with Ohdo syndrome, called Genitopatellar syndrome.  Spencer shows characteristics of both syndrome and could very well have both or something that combines the two.  The researched in the UK has seen several people with an overlap.  Our geneticists at Cincinnati are going back again and looking at his lab results from the Ohdo testing to see what they can find.  Spencer essentially is the poster child for both syndromes.  It will be interesting to see how this turns out.  I've decided if he has something they've decided new entirely, I'm demanding it be named after him.