Surf Advisory

Life would be so much rosier if I could take medical information, specifically news related to my son, with objectivity.  Put on a little white lab coat, slap on some goggles, and peer through the microscope.  I wish I could simply nod my head at news and do my version of, "hmmm. . . very interesting."  Sadly, there is no thoughtful chin stroking, no detached objectivity.  I am the one to leap into the fume hood the moment someone burps.  Frankly, how can one be objective when subjectivity is squirming in your lap and chewing on your sleeve?  Riddle me that.

So why am I babbling on about being an emotional wreck?  I did a little independent research this morning on the Internet and completely wiped out- hence the surf advisory mentioned above.  I felt like Ryan Seacrest getting nibbled on by a shark, tugged under the warm oceanic waters, slapping at an unyielding and unacknowledging tide.  

Miles has a rare form of DS called Translocation.  Only 3% to 4% of those affected by DS have this version.  When we met with a genetic counselor, she specially said Miles has "isochromosome" Down Syndrome, not a single mention of Translocation.  This left me under a serious misconception; I thought Translocation could only be inherited from a parent.  Not so- turns out that Translocation simply refers to a structural malformation in the genes.  Looking at Miles' karyotype, you'll only see 46 chromosomes.  However, the second arm of #21 is double, hence the trisomy 21.  Jesse and I are in the process of having our karyotypes done.  Mine recently came back negative, which is great.  Hopefully, Jesse will get tested on Monday.  If his test is positive, the odds of having another child with DS jump from 1/100 to 1/15.    

I recently tried to enroll my family in a DS study being conducted by Emory University.  This seemed like an ideal opportunity to contribute to the DS community.  And any way we can help, we are more than willing to do so.  Unless the organization in question doesn't want our help, which is the case with Emory.  I was told by a researcher, "Oh, your son has translocation.  We don't study that.  We only study Down Syndrome."  Wait a sec, Miles has Down Syndrome.  Everything I have read up to this minute has said that you either have Down Syndrome or you don't, with the exception of Mosaicism.  Like we have all arrived at the same destination; we just took different paths.  Getting declined by Emory was off-putting for reasons I haven't fully explored.

I do know that part of my frustration stems from feeling like an outsider.  First, we don't have any local friends with children who have Down Syndrome.  That in itself will make you feel a little lonely.  I am so grateful that have found a HUGE on-line support network.  A community of blogs that make me feel not so isolated.  Secondly, life has been a bit confined lately- our only family outings are to see doctors and to stay in hospitals.  Once Miles has fully healed, I plan to infuse some normalcy into our routine, get him around other children, and socialize!  Many of our friends have children in the same age range, and we need to get these kids together!  Keeping Miles away from germs has put us on temporary house arrest, and I've gone stir crazy.  Finally, I couldn't find any information about "isochromosome" Down Syndrome.  It would have been soooooo much easier if the genetic counselor had used the term Translocation.  I plan on bringing this up at our next appointment.  Now that I know for certain that Miles has Translocation, I know that he is now in a much smaller subgroup.  

I should never be allowed to Google certain topics alone, specifically those related to Down Syndrome.  I typically find new information that worries me, and I have no sounding board close by to help keep me grounded.  Today, I looked up "translocation prognosis Down Syndrome" and discovered a study which I wish I hadn't found.  The results indicated that individuals with Translocation have higher recorded incidents of conduct disorders, behavior disorders, depressive episodes, and dementia- higher than those with traditional DS.  But like a jerk, I completely ignore that the Translocation sample group is tiny, like 20 people.  How scientific is that??  More troubling is the fact I flipped out without factoring in the questionable use of such a small study group.  I only focused on those statistics and thought of the worst possible outcomes.  Those awful "what-if's" took over, and I pictured Miles in the back of a police cruiser, kicking at the protective glass and plotting his next crime spree.  I saw his face on America's Most Wanted.  Totally irrational and unhealthy thinking!  

Thankfully, eight hours later, I have returned to Earth.  My panic button has been reset, and Def-Con levels are back to green. Once again, Jesse- super dad that he is- rescued me.  I told him my heart was breaking.  He told me to let Miles fill in the cracks.  Simple advice from a complex man.  I'm surprised he hasn't revoked my Internet privileges.