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!

A trip to the beach

Hello!  We just got back from the beach last week and Naomi had a great time.  We left on a Friday headed for Richmond and then to the Outer Banks.  We brought along Anne's Aunt Jerry Jo to help with the kids.  To accommodate everyone as well all the stuff we needed to bring we rented a Ford Econoline van and took the back two seats out.  

We took a ton of stuff including a laundry basket full of toys, and one full of books.  

We left at around three and inexplicably, Naomi fell asleep in the driveway and slept for 3 hours.  Lydia napped too, and the first part of the drive was great.  Then we hit Fredericksburg, VA and sat for an hour.  We pulled into the hotel in Richmond frazzled.  The next morning after her long nap, Naomi got up at 4:15 am.  She watched shows with Aunt Jerry (thank God for Aunt Jerry!)  and then I took the monsters for a walk around the hotel.

They were a little cranky.

We left at 9:00 and hit an accident on I-64 and sat in traffic to get on the Outer Banks for 2 hours.  We got to the house at 3:30.  It was miserable, but the girls we pretty good.  Lots of shows.

We were staying in Nags Head in a big house with Rob's high school friends Bill and Sarah, Joe and Chris with their 15 month old Karl, Phil and Missy with their two girls Katie and Anna, and Dan and his wife Jennifer.  We got settled and had burgers for dinner.  The house was right on the beach and had three floors.  Naomi got her own room.  

Every day was mostly the same.  Naomi the rooster would get up early, usually before 6:00 am.  Daddy and Naomi would listen to music and then Aunt Jerry would take over at 6:00 am (Thank God for Aunt Jerry!) and take Naomi for a long walk which Naomi loved. Daddy would go back to sleep.  Lydia would get up and we would go up to the common room/kitchen for play time.  Lydz enjoyed motoring around the coffee table and playing with toys.  Naomi would watch some shows (Lydia would too)

Naomi relaxing in the morning on the couch

Lydz would nap and Daddy would haul all the stuff down to the beach.  This included a pack and play for Lydia, usually Naomi's jumper and involved setting up the tent.

Lydz in her cage

We would then spend time at the beach.  Naomi really enjoyed laying on her blanket under the tent.

  

The best part of the beach was taking the girls down by the water.  We called it being sea lions in the surf.  Naomi loved it and so did Lydz.

Two sea lions heading for the water

Having a conversation

Here is video of the two sea lions

Lydia got into the action too

All that playing was tough on Naomi

So sometimes she would take a nap

We also got in the hot tub some

And one night we flew kites

Phil, Missy, Bill, Katie and Anna

Naomi flew her kite with her leg

And then just as it seemed we got down there, the vacation was over.  We packed up and went home.  The girls had a great time, and we couldn't have had such a good time with out Aunt Jerry.  Embarrassingly, we did not have a good photo of Aunt Jerry, but make no mistake, she was the vacation MVP.

Chris, Karl, and Joe

Jennifer and Dan

Katie, Anna, and Lydz

Bill, Dan, Rob, and Phil

Naomi's First Vacation

Naomi had a big week last week and took her first vacation alone to Nana and Grampy's!  It started last Saturday when we came into Pittsburgh for a picnic with Anne's college friends.  It was nice seeing everyone with their families.  Naomi stayed for a while and then Nana and Grampy came to pick her up to take her swimming.  Lydia had to stay with Mom and Dad and played in the grass.

We stayed at Nana and Grampy's overnight where everyone was a little silly

The next day we went to the zoo to look at a more permanent arrangement for Naomi.

We decided to keep her and had a nice day at the zoo.

We went home that day but were back in Pittsburgh on Thursday for Naomi's doctor's appointment in Pittsburgh.  They changed her feeding tube and the nutritionist told Anne that we were going above and beyond giving Naomi a healthy blended diet.  

Naomi then started her vacation!  She stayed at Nana and Grampy's while the three of us went back to Hollidaysburg.  The first night Naomi went to the boat club where my parents have a boat.  Because of all the rain, the boat was not in, but she had a great time swinging.  She went to bed like a good girl and was ready for the new day at 6:00.  That led to an early morning walk with Nana.  Notice it is still a little dark out.

She got a chance to read books and act silly.

Playing with Nana and Eeyore

And getting her hair done by Nana

Then it was back to the Zoo where Naomi always seems to have a good time.  I think she does like the animals, but she also likes to walk and have people around too.  She likes to go go go just like Nana and Grampy.

So pretty with the bow in her hair

Excited to be there - this is Nana's Hairdo...

Naomi checking out the Elephants.

And the goats with Grampy's help

After the time at the zoo, Naomi went back to the boat club and did some more swinging and lauging and playing.  Then it was time for bed with some more silly time.

The next morning Naomi was up early again to play with Nana and Grampy.  She really likes the skylights in the house!

She went swimming with Grampy and then made the drive back to Hollidaysburg to see her parents and sister.  She had a wonderful time and we had a nice rest.  Naomi is definitely looking forward to her next vacation.