Thursday, August 18, 2011

Adventures in Genetics

Last week we went to Boston to participate in the Simons VIP Research program which is investigating the 16p11.2 deletion/duplication.  Dylan has the deletion.

We left Wednesday after work, picked up Dylan and headed to the airport.  Strangely enough, we flew through security (that never happens), got some dinner and waited for our flight.  Our paperwork said Gate 6 but at about 15 minutes to take off, no one was at our gate.  Marc double checked and yep, the gate had changed.  We arrived just moments before they called our section.   Dylan loved it!  He is such a good traveler and flyer.  He just looked out the window and once we were airborne, played with his video game.  I love flying to Boston because you go up, level off, hang out for a few minutes and start your descent. 

A driver picked us up and took us to the Sheraton where all the participants stay.  We unpacked and jumped into bed and passed out.  Next morning we got up early, found a place to eat and then took a taxi to the offices. 

We spent a little time meeting everyone, going over the legal stuff and then we were off and running!  I was in one room, being interviewed and video taped.  Marc was in another room with a bunch of different questions and Dylan was in another room doing the ADOS Testing (autism testing) and other cognitive testing.  His room had a one way mirror so during our interviews we could watch him.  A few times I really wanted  to go into the room and tell him to stop doing "x" but that's what they needed to see so I just kept doing my part.  Oh, my part was a list of questions to help determine if he falls on the autism spectrum.  Marc's questions were more general and family related.

We broke for lunch and came back to finish up the testing and questioning.

After, we headed back to the hotel.  We went swimming in a salt water pool which was SOOOO cool.  It's so nice not to smell like chlorine after swimming.  Then we went to dinner at a nice little Italian place.  It was an outdoor cafe and the birds were crazy aggressive which actually was a good thing because it entertained Dylan.  Then back to the hotel where Dylan and I passed out and Marc went down to the lobby to read.

Next day, we went to Boston Children's Hospital where we had breakfast (they have a nice cafeteria) and they took 4 (yes 4) vials of blood.  Dylan didn't so much as flinch.  He's such a freaking rock star!  Then we headed back to the office for a bit to discuss their findings* and then we headed to another hospital location for Dylan's MRI.  They had a mock MRI for him to play with which was good.  We called it a rocket ship and he got to play in it, on it, around it.  Then we went up to do the real thing.  It was scary but he did it.  He hated every minute of it and said so.  I don't blame him, I hate them too but when it was all said and done, they were able to do 1 series which is what they needed.  That was it.  We were done.  We headed back to the hotel where we wandered around, let Dylan buy a toy and then met up with our friends Andy & Lori for dinner.  After dinner went back to the hotel, got our driver, went to the airport and hopped our flight home.  After we took off, Dylan wrapped his arms around my arm and put his head down and went to sleep.  My arm is still sore :) 

*Findings...  Nothing new or earth shattering.  However, we have a new understanding of things.  The researcher who delivered the results has written papers on holistic medicine and children (she's pro).  She also explained that she rarely gives out an ADHD diagnosis because she feels it's over diagnosed.  However... Dylan is extremely ADHD and needs meds.  We have an appointment at the end of September to discuss medicine with his physician.  She also said he has movement disorder (flapping), sensory processing delay, the auditory processing stuff may or may not be caused by the ADHD- we'll be able to know more after he starts meds.

And in a case of right time, right place... she's an adoptee... in reunion!  I told her that we were considering reaching out to Dylan's first mother to share these findings.  She said that she is pretty confident that Dylan's deletion is pro novo (just one of those things that happen during development vs. hereditary).  She also put it this way.... he's already struggling to understand the world around him.  Bringing the first mother into the picture now may not be the right thing for Dylan.  We should wait until he is able to really understand adoption, first mother, etc.  So, after much discussions, we are going to wait.  However, we may reach out to the attorney in Guatemala so that she can let her know.  We're not sure about it just yet.  Stay tuned ;)

1 comment:

  1. What an amazing trip and such a good boy!! My hat is off to you woman for going through so many, many difficult tasks with flying colors! The flight alone is a big whoa-wait-a-minute for me alone... I cannot believe how good he was for the blood draw and the MRI! You are definitely blessed. It isn't easy to do all that you and Marc did. Very impressive.