Wednesday, December 15, 2010
Tuesday, December 14, 2010
The results are in.....
We finally got the results back from Everlyn's "chromosome analysis." Surprise...she has Down syndrome. LOL!
Actually - we did get a bit of a surprise though. Before and during her adoption, we were told that she had "suspected mosaic Down syndrome" or "slight Down syndrome" or "Down syndrome, but not deep" (my personal favorite.) Well, she does not have mosaic Down syndrome after all. But she does NOT have non-disjunction Down syndrome either...that is the most common form accounting for about 94-95% of all cases. This is the karyotype you see with 3 pretty little 21st chromsomes lined up nicely at the 21st "pair."
Nope - our girl has to be a bit more complicated. She is believed to have a Robertsonian translocation 21:21. What does THAT mean? It means instead of having the nice little trio of 21st "chromies" lined up, she has something more to the effect of "siamese twins and a singleton." Yep - two of her 21sts are stuck together, sitting nicely next to a third 21st.
What does this mean for Everlyn's health and development as opposed to mosaic DS? Not a darn thing really. :o)
Our tiny dynamo has gained TWO lbs in the past 6 weeks! WooHoo! Grow sweet girl grow!!!
And because I know you love pics, here are a few new favorites!!!
Friday, December 10, 2010
Holiday Card Sneak Peek!
Here's a peek at our holiday cards. A special shout out to my friend Hillary for helping a stressed out mama (me!!!) out with these!
Holiday card side:
Adoption announcement:
I will try to post more soon. Our big move is in a week, but I do have a job lined up! YAY! I accepted a position on child/adolescent psych at Vanderbilt. :o) I will fill you in more in a bit.
Monday, December 6, 2010
Grab a Kleenex...or three....
This song is so appropriate for us this Christmas since Everlyn now has a family...to tuck her in, to celebrate her (January) birthday, and so much more!
Saturday, December 4, 2010
We've been home more than a month!
I can't believe it! We have been home since November 2nd. It seems like we JUST got home...but also seems like Everlyn has always been a part of our family. Odd....
We got Everlyn's Certificate of US Citizenship in the mail! It's official! Some days I still have to pinch myself....(perhaps I am just shocked we survived it all! LOL)
I have to apologize for the lack of pictures on the blog recently. Life has just been NUTS lately with the move and everything. I promise to be better once we are settled - and I am sure I will have lots of Christmas pics to share! :o) A good friend took the pics for our holiday cards so I will post a "sneak peak" when I get those back...
I hope everyone in blog-land is enjoying the holiday season. My shopping is DONE...okay, I have to pick up one more item...but I know what it is and that is half the battle. I just need to wrap it all and get it under the still-needs-to-be-decorated tree. Geesh...always something to do. :o)
We got Everlyn's Certificate of US Citizenship in the mail! It's official! Some days I still have to pinch myself....(perhaps I am just shocked we survived it all! LOL)
I have to apologize for the lack of pictures on the blog recently. Life has just been NUTS lately with the move and everything. I promise to be better once we are settled - and I am sure I will have lots of Christmas pics to share! :o) A good friend took the pics for our holiday cards so I will post a "sneak peak" when I get those back...
I hope everyone in blog-land is enjoying the holiday season. My shopping is DONE...okay, I have to pick up one more item...but I know what it is and that is half the battle. I just need to wrap it all and get it under the still-needs-to-be-decorated tree. Geesh...always something to do. :o)
Thursday, December 2, 2010
doctors, doctors and....more doctors....
Everlyn is a trooper. I have taken her to just about every doctor you can think of...and have upcoming appointments for the ones you can't even think of...
General ped - Everlyn had her first visit with our awesome pediatrician the day after we got home. I think I posted about this appt, but she did well and we were told she looked GREAT! :o) And they took 6 tubes of blood...or something like that. It was a lot from such a small person!
Ped cardiology - We saw a terrific pediatric cardiologist at one of the local children's hospitals. The doctor was very sweet and could not hear a murmur at all, but wanted to check her over more thoroughly. They did an EKG (which was normal) and an echocardiogram. The echo showed that Everlyn was born with two holes in her tiny heart - a PFO (patent foramen ovale) and a VSD (ventricular septal defect). We were told about the PFO while in Ukraine, but we were told it had "resolved" on its own. The VSD was a surprise. Well, it turns out BOTH tiny holes have closed on their own so Everlyn needs no intervention and no more trips to the pediatric cardiology center. YAY!
Ped endocrinology - We got lucky and this appointment can wait - her initial labwork our pediatrician ordered showed that her thyroid is doing its job. We were told in Ukraine that she was hypothyroid. The physician who did her Embassy medical exam even said her records indicated she was taking a low dose of Synthroid. Well, no one at the orphanage ever mentioned her being on medication so who knows........ So, we will repeat this bloodwork in a few months and see where we are then. Until then, this appt can wait! :o)
Allergy/immunology - We think Everlyn is allergic to "something". Milk maybe? We aren't sure, but sometimes she spits up. Other times she breaks out, especially on her little hands. The allergist ordered some bloodwork that I have not had drawn yet...I am waiting to see if any of the other doctors we plan to see want labs so we can minimize the needles for my sweet girl.
Ped opthalmology - When we were in Ukraine, Everlyn's eyes "dripped" almost constantly, especially her right eye. And they would get "goopy" at times. I wondered about a blocked tear duct. Now, it seems better, but I plan to still take her since children with Ds can have issues related to their eyes, vision, etc.
Ped dentist - Everlyn had her first dentist appointment already. She and her siblings...yes, I took all FIVE kids to the dentist at the same time...came out of there without one single cavity! WOOHOO!!!!!!! She is just now getting her top incisors and is missing a baby tooth in the bottom right side. Dentist says it could mean it is just missing...it could mean it is late coming in. He also said she may or may not have that permanent tooth. We opted to skip x-rays since it doesn't really matter and there was no real reason to "traumatize" her with more "baby torture" that day..... :o)
Ped GI - I need to make this appt. Poor girl has some GI issues. Not sure what exactly. She spits up, has oddly icky-smelling poo (aren't you glad you read this blog entry...?), etc. We shall see what the GI doc has to say... I am stumped really. Maybe the milk thing? I will keep you posted.
Dermatology - Yep, this poor little girl has eczema and gets random rashes. I haven't taken her to a derm yet, but I need to make an appt for her. ((sigh))
Genetics - We likely won't have to see a genetics doctor, but we did have a chromosome analysis done. I was told it can take 2-3 weeks to get those results. We were told she had "suspected mosaic Down syndrome", "slight Down syndrome" and "Down syndrome, but not deep." (I am sure something gets a bit skewed in translation. LOL! Basically, because she is "healthy" and rather high functioning (other than speech, it is hard to find a "delay" with her), it could just be assumed it is mDs as opposed to Ds. Out of curiosity, we just want to know for sure...and it should go without saying that the results do NOT matter to us. We just want to know.... My pediatrician says his money is on mDs....we shall see!
Did I miss any???? :o)
Aside from all of that...which is NOT a big deal in the grande scheme of things...Everlyn is doing so so so well! I can't wait to see her face when she sees our Christmas tree for the first time! Eric has it put together (at our new house in TN), and it is just waiting for me to decorate it. It is a 12 foot tree so she will either be mesmerized by the lights, or terrified by the sheer size of the darn thing. Either way, it is fun to experience things for the "first time" through her eyes.
I have a couple more weeks of work. My last night is December 17th. We move on the 18th. Ahhhhhh............ In the end, it will all be worth it but right now my head feels like it may explode with so many "to-do" lists and such. Pray for my sanity! Moving with 5 kids (one being new), to a new state, a week before Christmas...it should TOTALLY be illegal!
General ped - Everlyn had her first visit with our awesome pediatrician the day after we got home. I think I posted about this appt, but she did well and we were told she looked GREAT! :o) And they took 6 tubes of blood...or something like that. It was a lot from such a small person!
Ped cardiology - We saw a terrific pediatric cardiologist at one of the local children's hospitals. The doctor was very sweet and could not hear a murmur at all, but wanted to check her over more thoroughly. They did an EKG (which was normal) and an echocardiogram. The echo showed that Everlyn was born with two holes in her tiny heart - a PFO (patent foramen ovale) and a VSD (ventricular septal defect). We were told about the PFO while in Ukraine, but we were told it had "resolved" on its own. The VSD was a surprise. Well, it turns out BOTH tiny holes have closed on their own so Everlyn needs no intervention and no more trips to the pediatric cardiology center. YAY!
Ped endocrinology - We got lucky and this appointment can wait - her initial labwork our pediatrician ordered showed that her thyroid is doing its job. We were told in Ukraine that she was hypothyroid. The physician who did her Embassy medical exam even said her records indicated she was taking a low dose of Synthroid. Well, no one at the orphanage ever mentioned her being on medication so who knows........ So, we will repeat this bloodwork in a few months and see where we are then. Until then, this appt can wait! :o)
Allergy/immunology - We think Everlyn is allergic to "something". Milk maybe? We aren't sure, but sometimes she spits up. Other times she breaks out, especially on her little hands. The allergist ordered some bloodwork that I have not had drawn yet...I am waiting to see if any of the other doctors we plan to see want labs so we can minimize the needles for my sweet girl.
Ped opthalmology - When we were in Ukraine, Everlyn's eyes "dripped" almost constantly, especially her right eye. And they would get "goopy" at times. I wondered about a blocked tear duct. Now, it seems better, but I plan to still take her since children with Ds can have issues related to their eyes, vision, etc.
Ped dentist - Everlyn had her first dentist appointment already. She and her siblings...yes, I took all FIVE kids to the dentist at the same time...came out of there without one single cavity! WOOHOO!!!!!!! She is just now getting her top incisors and is missing a baby tooth in the bottom right side. Dentist says it could mean it is just missing...it could mean it is late coming in. He also said she may or may not have that permanent tooth. We opted to skip x-rays since it doesn't really matter and there was no real reason to "traumatize" her with more "baby torture" that day..... :o)
Ped GI - I need to make this appt. Poor girl has some GI issues. Not sure what exactly. She spits up, has oddly icky-smelling poo (aren't you glad you read this blog entry...?), etc. We shall see what the GI doc has to say... I am stumped really. Maybe the milk thing? I will keep you posted.
Dermatology - Yep, this poor little girl has eczema and gets random rashes. I haven't taken her to a derm yet, but I need to make an appt for her. ((sigh))
Genetics - We likely won't have to see a genetics doctor, but we did have a chromosome analysis done. I was told it can take 2-3 weeks to get those results. We were told she had "suspected mosaic Down syndrome", "slight Down syndrome" and "Down syndrome, but not deep." (I am sure something gets a bit skewed in translation. LOL! Basically, because she is "healthy" and rather high functioning (other than speech, it is hard to find a "delay" with her), it could just be assumed it is mDs as opposed to Ds. Out of curiosity, we just want to know for sure...and it should go without saying that the results do NOT matter to us. We just want to know.... My pediatrician says his money is on mDs....we shall see!
Did I miss any???? :o)
Aside from all of that...which is NOT a big deal in the grande scheme of things...Everlyn is doing so so so well! I can't wait to see her face when she sees our Christmas tree for the first time! Eric has it put together (at our new house in TN), and it is just waiting for me to decorate it. It is a 12 foot tree so she will either be mesmerized by the lights, or terrified by the sheer size of the darn thing. Either way, it is fun to experience things for the "first time" through her eyes.
I have a couple more weeks of work. My last night is December 17th. We move on the 18th. Ahhhhhh............ In the end, it will all be worth it but right now my head feels like it may explode with so many "to-do" lists and such. Pray for my sanity! Moving with 5 kids (one being new), to a new state, a week before Christmas...it should TOTALLY be illegal!
