Frustrated

I'm writing again so soon because we had yet another appointment today with Alexa's genetecist, and there was so much overwhelming information I need to sort the chaos out in my brain.  Just know it is not a good sign when the doctor comes in shaking his head.  He states that Alexa is a medical mystery (we know this) and that all the docs have been scratching their heads over her case.  He said that Noonan syndrome should be the least of our worries, and he reiterated that her neuromuscular doc is diligently looking for the muscle disorder.  The results of the two tests we're waiting for are still pending (ryr1 for fiber disproprotion and SMA), but he said that he sent an email to the researcher that handles the muscle biopsies, and is reknown in testing these diagnoses.  He wants him to contact us to discuss what else to look for.  Also he states that he's not sure but...  He believes Alexa has yet another issue going on.    They believe Alexa has some sort of ciliopathy. Cilia are found in each and every cell in your body they have a lot of different functions they're the little hair parts of the cell.  This can affect everything in your body.  The doctor said that it's very unusual for a child to have 2 genetic disorders but for a child to have 3 it is extremely, extremely rare.  Go figure our kiddo has to be one of the rare.  He wasnt able to give me a prognosis of her future, because there are so many different scenarios and outcomes, especially with her other issues.  Seeing as we already got a poor prognosis with her other problems just leaves us with the questions of when and from what.  

I know, I know very negative thinking I'm just having a very hard time dealing with all of this.  I just feel like we keep having blow after blow.  It seems we dont have time to readjust to the old information before new information is thrown at us.  I've been feeling so overwhelmed lately.  Alexa hasnt stopped crying for the past week.  She is in constant pain, I feel so bad for her, but it's starting to wear on my last nerve.  She tries to be in a good mood, but it only lasts minutes at a time before she starts sceaming in pain again.  The Tylenol and Motrin dont seem to be cutting it anymore.  I dont know what else to do.  Kevin thinks we need to get her something stronger, I dont know... She already has respiratory issues and I wouldnt want to compromise her anymore than she already is.  But something needs to change.  On our long drive home today I found myself crying uncontrollably.  I just dont know what to do anymore.  I so want to be able to make everything better for Alexa.  I'm terrified all the time, and the what ifs are killing me. 

We dont know for sure if Alexa has any ciliopathy, but the genetecist seemed like he thought it was a real likely possibility.  I just dont know when this is all going to stop.  It's so hard to talk to Kevin about all this, because I feel like he already has the world on his shoulders.  I dont want to burden him with anymore.  We just dont know what to say to one another to make eachother feel better.  We cant say things will get better or some other silly platitude, because most likely they wont.  So we just stay there not saying anything, and we can feel the other persons fears, which makes things worse...

Ok I think I'm done with my pity party.  Tomorrow will be a better day.