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.

A New School Year

Naomi started school a few weeks ago.  This is her third year and final year in preschool.  She moved up from the afternoon class for younger preschoolers to the morning class for older preschoolers.  The morning class is a special education class embedded in a Head Start kindergarten readiness class.  So instead of Noami being in a class of 5 to 8, she is now in a class of 25!  The first two weeks it was just her class.  The Head Start kids started this week.  Half came yesterday, half come today and they all come on Friday.  We are all anxious to see how Naomi does being in such a big class, with all of her issues with noise and commotion, etc.  Yesterday went well.  

So far, Naomi has been loving school, as usual!  She is a lot like Daddy, who loved school so much that he cried on the last day because he was sad that it was over and missed it over summer break.  She has had a hard time getting used to drinking her juice bubba at snack time, but yesterday finally had a breakthrough and drank 7 ounces.  So that was very good!  She's also been doing good work with her therapists.   She told her teachers with her cards on the first day that she was going to watch shows when she got home that day.  Naomi is an optimist. 

 Below are some pictures from the first few weeks. 

Naomi on the first day of school.  Because Mommy now has Lydia too, Mommy did not have any time to make Naomi her school clothes this year, which Mommy very much missed doing.  However, we did have a new experience as a result, which was back to school shopping!  It was fun.  

Naomi and Lydia on the first day.

Naomi is riding a new van this year with a new driver.  It has been going well for her and she likes this van too.  Deb is still her aide, for which we are very greatful.  Naomi and Deb make a great team. 

We tell Naomi that riding the lift is like being at DelGrosso's Amusment Park.  She thinks this is funny, as she gives me a little smirk and head turn every time I say it. 

Signs of excitement:  Stiff legs, hands by mouth, head turned to the side.  

More excitement:  Licking the head rest on her seat.  

Showing delight.  Those of you who know Naomi in real life know exactly the sounds she is making to go with these motions...a breathy hhhaaaa!  hhhhaaaa!

Naomi and Clementine all ready for school on the second day. 

Trying to get a picture of Lydia with Naomi and Clementine.  This is what I got instead.  

Naomi and Lydia playing together after school.  

Naomi all ready for school last Thursday.  

Naomi and Clementine exercising in the stander and watching shows after school. Sometimes optimism is rewarded, as long as she does her work too.   

Naomi all ready for school yesterday morning.  

Lydia had to get some matching outfits too.  Too cute.  Also, Lydia is walking!  At nine months.  Yay, Lydia!