Friday, September 20, 2013

Another Bad Day

The Caughey's had another bad day/week, by now you must be sick of reading about them.  We will go in order from least bad to most bad.  

First, we have been waiting for the genetic testing for Lydia for Batten's disease and Anne's mitochondrial mutation.  We had gotten the results of the mitochondrial POLG mutation a couple weeks ago - Lydia has it just like mom and sister.  This wasn't too too upsetting because Anne is normal and there is doubt as to how much problems it caused.  Then two weeks ago we got the first set of tests back for the Batten's.  To refresh your genetics, Batten's is autosomal recessive meaning you need a bad gene from both parents.  We found that Lydia did receive the bad gene from Anne.  So we have been anticipating the second test on the deletion that is on Naomi's other gene, but that they did not find in me (so in theory it was a freak mutation and unlikely to be repeated).  Well, they ran the test and it didn't work so we had to send more blood from Naomi to the lab.  We got the results today and it said that Lydia didn't have the deletion, BUT the test didn't find it in Naomi either (I guess they look at both to compare).  We didn't get to talk to anyone, just got the report, so we don't know what this means.  They described it as inconclusive and that possibly the results mean that Naomi's gene from me is a mosaic only in her (enough hard core genetics).  This would mean that Lydia definitely does not have it.  Hell, maybe Naomi doesn't have it either (what is up with her then?!?).  At the least it would have been nice to get a phone call instead of a vague confusing report we have been waiting for with baited breath.  I  mean this wasn't like waiting for your weekly coumadin level or thyroid level - these blood tests are literally life and death. 

Second, Naomi's aide Deb took a full time position and last Friday was her last day.  It sucks.  It is hard to find good people, and Deb is a good person who cared about Naomi.  She cried on her last day.  Naomi can have that effect on people.  On Tuesday the new aide came.  Then Tuesday night we got a call that she quit.  Naomi can have that effect on people too.  It makes us sad that someone wouldn't want to work with her.  She is so sweet and kind.  The good news is the new new aide came on thursday and seems to like Naomi.

Lydia toodling around
Third, Anne fell today over the baby gate and broke her right shoulder.  Got her to the doctor and got an MRI which showed a fracture in the joint, and a minorly torn rotator cuff.  The good news is that she will not need surgery.  The bad news is that she is not going to be able to use her right arm for 4-6 weeks.  Unreal.  And this happened right before 

Fourth, Karen, the early intervention early childhood specialist came again for Lydia and there are definite red flags in communication and language.  Lydia is 10.5 months old.  She rarely responds to her own name. She doesn't make great eye contact.  She doesn't babble.  She is a physically gifted child and can walk well and climb and use her hands.  She is super busy.  Still, we are worried about autism, and now the EI folks are too.  It is very depressing.  We have never heard a child say mum or dad.  We know there are lots of variation in development and that it is too early to be sure and make a diagnosis but it is just one more thing.  More therapy, more worry, more heartache.  
This is how we felt today
So this has been a pretty bad day.  But really probably doesn't crack the top 5 in the past 5 years.


6 comments:

  1. Rob and Anne - you are both amazing people and have been long before any of us knew what the hell Batten's disease was all about. Claire and I are here for you in whatever way you need us to be.

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    1. Thanks Mike. We will let you know if you can help us in any way. If you are praying people, please pray for us.

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  2. Tossing breaks from here in Ohio, hoping you catch one soon.

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    1. Thanks guys. We're trying hard to catch one.

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  3. OH my goodness.... You guys don't need a shower of blessings.. you need to be bathed in them. I will be in prayer for all of you and trust that it will all get sorted out soon. Anne, I'm so sorry for you and trying to do life and kids with one arm.. You will get even extra prayers. Love you both... even tho we are so far away.

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