not having a diagnosis has been hard.  it can be so frustrating and terrifying not know what is wrong with your child, especially in the beginning.  i remember back when we first started the process of trying to figure out what was wrong and why it was happening, all the testing......and testing.....and more testing!!!!  it is terrifying not knowing what is wrong because that means you don't know how to fix it.  i remember thinking if only we can figure out what he has, we can fix it.....we can stop it.  and so they did tests.  many tests.  they started out with the swallow study, which showed he was aspirating.....next they did an MRI, but i think that first one they did wasn't really all that abnormal except that it showed that his myelin sheath hadn't developed fully.  after that was when my dad and i took him to the Mayo Clinic in Minnesota to meet with the top neurologist there. at that point we weren't even sure what we were supposed to be looking for really, i remember just being very confused and very worried.  we stayed a week at the Mayo Clinic, that was an hard week.....connor had his nose tube in then and kept yanking it out with his jerky movements, and because he kept retching and throwing up, so they would have to keep re-inserting it.  in order to do that i would have to physically hold him down, even after he had been strapped down---feet wrapped together and arms wrapped to his side-----even with all that i would still have to use all my strength to hold him on that table while he cried and screamed the most painful screams i've ever heard.  my dad said he could hear him all the way down the hall and it broke his heart.  it broke mine too.  anyway, they did lots of tests during our stay at the mayo clinic-----they did a muscle biopsy, and took a skin biopsy from his foot (he had these strange little spots all over his body which turned out to be something called Juvenile Xanthogranuloma, something that is rare, but doesn't seem to be associated with his overall issues....)  then he ended up in the E.R. while we were there because he got violently sick, but that's a whole other story.......anyway, the trip to Minnesota ended up giving us no answers.  all test came back negative or normal.
  since then connor has had so many tests i can't even remember them all.  he's had at least 5 MRIs (that show his brain is atrophying), an EMG, EEG, scopes done of his lungs and throat, sleep studies, CT scan, several LPs (spinal taps), tons and tons of blood work done, a couple different specific gene tests to test for things they thought he had, and the same results come from almost every test-------normal! (or not abnormal enough to mean anything)    he also had a trial of botox injected into his saliva glands to see if it would reduce his production of saliva (it didn't, but boy did he look younger than ever :)   since he can't handle his secretions and aspirates into his lungs they did a surgery where they actually removed his bottom two saliva glands and tied off his top two.  that helped so much!!  instead of suctioning him every 3-4 minutes i can now go anywhere from 20-60 minutes, depending on the day.....yay!  i used to have to pull over to the side of the road if i was driving to suction him.  made for long trips anywhere...

so we've done a lot of testing, and i've taken him to what i think are the best doctors in the nation.  and we still have no diagnosis.  and that's hard. and frustrating. and terrifying.   but also what's terrifying (and this may sound crazy) is actually finding a diagnosis.  there have been certain diseases that they thought he had and they weren't good ones.......well none of this is good, but there's some strange comfort in not knowing because then i have the slightest hope that maybe it's not as bad as i'm expecting.....maybe it can be fixed....(and that's probably not a healthy thing for me to think because intellectually i know that's not true, but there's always that little bit of hope i can cling to) 

so i've discovered that not knowing what connor has is terrifying but so is the thought of knowing.  and that is hard to deal with....