Meghan had a great 2nd birthday!  She is having a lot of fun playing with all of her new toys!  It's so great to see her so happy and full of life!  She is definitely getting more spunk in her, but she is still my little mellow cuddlebug and loves to help out.

Meghan had her 2 year well baby check up last week.  She loves having the doctor use the stethescope to listen to her belly.  The appointment went well.  We discussed the last MRI results and got him up to date on that.  His biggest concern at this point (as is ours) is her growth.  She has now lost some weight and is at 20.2 pounds and is 30 inches.  She has now dropped to being less than 1% for weight and is at 1% for height.  He would like her to be seen by an Endocrinologist.  This topic was discussed a couple weeks ago with the geneticist.  She wants to give Meghan's body a few more months post op to monitor growth before adding another specialist to our list.  The doctor was surprised they want to wait a few more months as she is getting to a critical stage of development and if there is a growth issue, we need to address it before it affects her long term.  Jeff and I have talked about this and we have decided that we are going to wait to see what the genetic tests come back as.  If everything comes back okay, we are going to go ahead and see an Endocrinologist.  The primary dr. thinks she might have a growth hormone deficiency.   He is also having her do speech therapy at the clinic this summer.  Meghan's speech therapist through the school district is off during the summer and there hasn't been anyone hired to fill her position yet and her speech definitely needs continued help as her vocabulary is around 7 words.  Her sign language is going great and she will sign around 13-15 signs!  She picks up on them very quickly.  The newest sign we are doing is fish.  Luke, of course, loves doing this sign with her as fishing is his favorite thing to do :)  We haven't gotten any of the genetics results back yet and don't expect to for another week or two. 

Luke is getting his turn in the OR tomorrow as he will be having his tonsils and adenoids removed.  So far, he's being brave about having this done, and I'm hoping for a smooth recovery.  We stocked up on lots of ice crème, popsicles, jello, pudding and plenty of water!

Happy 2nd birthday to our sweet little Meggers!!!  I can't believe two years has passed since you were brought into our lives!  Happy Birthday!!!

 

Meghan had her Geneticist appointment earlier this week.  We were warned it would be a long appointment, but neither of us were prepared for a 2.5 hour appointment.  Needless to say, the kids were ready to burst out of the room.  The Geneticist confirmed that Meghan has right sided hemihypertrophy affecting her right foot, leg, arm,face and tushie.  There is another condition - Beckwith-Wiedemann syndrome - that some people with hemi have.  Meghan has some characteristics of this syndrome so they did a blood test to check for this condition.  If she has BWS, she has an 8% chance of developing stomach tumors (she has 6% chance if she has hemi without BWS).  We should find out results in a week.  They also did an AFP - which is a tumor marker blood test.  This test will be repeated every 3 months until she is 4.  This looks for cancer in and on the liver which isn't visible on ultra sound.  This test came back at a good level for her age so that is great news!  We will do full abdominal ultra sounds every 3 months as previously planned.  This is to monitor for development of a childhood cancer called Wilms tumor until she is 8.  The next 2 ultra sounds and AFP tests will be done at Childrens, but we are hoping they can then be done in Mankato.

They also did a microarray analysis blood test which looks at the structure of her chromosomes.  They are looking for any chromosome abnormalities (deleted or extra chromosomes or a chromosome that didn't fully develop) that could explain why she has the conditions she has.  This test could come back totally ok, show a chromosome abnormality, or it could pick up on other conditions.  We will find out results in 3-4 weeks.  We will go back in 6 months and the geneticist we saw today would like to bring in another geneticist to take a look at Meghan at that appointment.  We will also go over the findings on blood tests - if anything is found.  She said if the microarray test comes back okay, she wants another geneticist to look at her to see if they have any ideas.  She said the strange thing is that some of her conditions (fused toes, short statue, leg length difference, hemi and seldomly hydrocephalus) can be hereditary.  Since no one on either sides of our families have any of these (except short statue) it is strange why she has these issues.

 I think, still, a big concern is her growth.  My wish is for any growth issues to be pinpointed.  We need our girl to grow and for her organs to grow and stay healthy!  At 2 years old, she is at 1% on the growth chart for weight or height for her age category.  The geneticist wants to give Meghan a little more post op time to see how she grows.

 Other than confirmation of hemi, we didn't learn too much yet.  We will see what the blood tests come back as - hopefully all is okay, but it would almost be nice to know a chromosome didn't develop "normally" which is why she has the several conditions she has and we would have our answer on our unique girl.  We will also know, after the microarray test, if any of her conditions will be passed down to her children.  This will be good to know.