Monday, December 24, 2012

Bowling Diva

I will share Christmas pictures some time soon, but until then here is an unedited video of Charlotte's first bowling experience. It was a blast.




Have a very Merry Christmas!!

Sunday, December 16, 2012

A healthy baby.

I had my 20 week ultrasound this past week. We were thrilled to find that the baby seems healthy--no apparent issues with its heart, brain, spine, kidneys and everything in between. It is measuring right where it should and we couldn't be more relieved.

We also found out....


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We are evening the score here; 2 girls, 2 boys. Will is probably the most excited of us all, he hugged me after we told them and thanked me for making the baby a boy (someday we will talk about how I had nothing to do with that...hah!).


Friday, December 7, 2012

Loving the upswing.

A stack of Christmas cards litter the the end table waiting to be addressed, my last grad essay for a class begs to be written, it looks like Christmas threw up all over my messy/dirty house (in all the wrong places of course), and any attempt I make to create some order to this madness is quickly undone by a certain 2.5 year-old.

But, I am way overdo for an update. In an effort to make this quick so I can tackle my ever growing to-do list, I am throwing grammar and traditional writing aside and giving you a list of what has been happening these days.

-Charlotte continues to improve on a daily basis. The amount of energy and spunk she has these days is unfounded.

-Huge gains have been made in all areas of her therapy. Her therapists have been beyond impressed with her. In Speech, her spoken vocabulary has grown and now includes "daddy" (instead of dada), "poop," (which she says when she needs her diaper changed), "blue," "ease" (please)...as well as many, many new syllables that she is pairing with her signs. In PT, even though she regressed a bit with some of her skills during her illness, they are coming back quick and most importantly her desire to want to do things is back. We are currently working on stair climbing and running. In the words of her OT during therapy yesterday, "Charlotte, you aren't going to need me soon!" as she strung an entire strand of beads on her own.

-While talking with Missy the other day in the living room, Charlotte was roaming around playing with her toys in the kitchen. I realized it was "too quiet" and jumped up to find her...only to realize the patio door was open and Charlotte was across the backyard climbing up the swingset. When I said her name, she turned around and signed "hot"...though, it was freezing outside (and she was barefoot!), not really sure what she meant by that. Lesson learned, my 2.5 year-old can open the patio door.

-Yesterday Charlotte peed in the potty! Most of the "experts" warn that potty training in kids with Down syndrome will most likely be delayed, and I haven't given it much thought yet. Charlotte will turn three a month after the baby is born, so I figured we will wait to introduce it until after the adjustment to the new life in the house. However, lately she has taken a huge interest in the the potty (thanks to Potty Times!); she follows us to the bathroom and signs the entire process (potty, wipe, flush, wash hands). When I change her diaper she signs potty, so I let her sit on her potty for a few minutes each time. Yesterday Will took her to the bathroom, and started squealing that she had peed! She was very proud of herself, though she was mostly excited to "flush" it down.

-Charlotte hates Santa. Mike took her and Will to the kid's party for his company last week when Katherine and I were out of town. He tried to put her on Mrs. Claus's lap but she would have no part of it. Screamed bloody murder. Maybe next year?

-Her sleep schedule continues to be frustrating. She is a night owl, and a lot of nights won't go to bed until close to 11PM. She rolls around in her crib, chatting and whining. Naps are hit or miss, some days she takes a good 2-3 hour nap, other days she skips it all together. We are hoping to get on a better schedule before May!

-Charlotte also has a strong dislike towards the heart doppler at my OB appointments. I took her to my doctor appointment last week, and when the doc pulled out the doppler to listen to the baby's heart, Charlotte started screaming hysterically. Maybe she will get used to it by May?

-She got her first haircut! Check out the picture below...I was impressed, I thought for sure she would scream and end up on my lap, but she did really, really well. Her hair is much more even now and she looks less like Cousin It after baths.

-I ordered Charlotte new shoes for the first time in a year! Her feet are growing...and so is the rest of her! At the ENT last week, she had gained three pounds since her discharge from the hospital in October. Now that her body is absorbing all the nutrients, she is GROWING and THRIVING.

-Someone asked me last week if I thought Celiac disease was a "real" diagnosis or just some fad right now. Those who saw Charlotte the week before she was admitted to the hospital, and now see her know what I am talking about; it is NOT a fad. Her body can't process gluten, and in response made her very, very sick. After seeing her recovery, I have no doubt that she was sick much longer than we knew. I urge parents of kids w/Ds to know the signs and symptoms, and even though the AAP doesn't recommend routine screening, I would ask for it on a yearly basis. If I would have been more educated back in June, we could have possibly avoided months of regression and illness.

We are looking forward to Christmas and spending time with family! The next few weeks are going to be pretty busy, but hopefully some holiday pictures will be posted in the weeks to come! Enjoy your December!



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Wednesday, November 21, 2012

Energy. Lots of it.

The amount of energy Charlotte has these days is amazing. It is hard to believe a month ago, this same little girl wouldn't move off her little chair and spent her days watching TV and sleeping. These days, she runs around the house like a crazy little girl, skips naps most days, and a lot of times doesn't go to bed until after 10PM! And despite her shorten sleep time, she is in a great mood most of the time. To say I am thankful for her improved health is an understatement. Yesterday her PT told Mike that Charlotte had her best session ever. Seeing the amount of energy she has made us realize how long she had really felt like crud. Yay for a gluten-free diet!

Some pictures of my crazy little lady....


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Helping Dad put together his new grill...at 10PM, instead of sleeping. 

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Her turkey craft from her speech/motor group. She was so proud of it. 

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Trying on some new boots at Target. 

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Painting, a new favorite activity. 

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Enjoying the mild temps! 

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Hanging with friends; books and dress up. 

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"I should be in bed, but I'm not."

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Playing in soy beans with dinosaurs. 

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It's 10PM, do you know where your 2-year old is? Not it bed. 



Monday, November 19, 2012

Pregnancy after Down syndrome.


I know there are many curious people out there, many shocked by the news of a new baby joining our family this May. Those who know me best though, probably not so shocked, since I have openly talked about my desire to have four children for as long as I can remember.

Rest assured, the decision to expand our family was not taken lightly, and was very much planned. In fact more discussion and planning went into this decision than our other three children combined. Why? Because pregnancy after Down syndrome is complicated and in my opinion, super nerve-wracking.

Gone are the days of the care-free ignorance that accompanied my previous three pregnancies. I am now considered "high-risk." So far this pregnancy we have visited a genetic counselor and a high-risk obstetrician.  We will go back for a level II ultrasound in December, and possibly a fetal ECHO (heart ultrasound) after than.

All of these added precautions were/are our choice. Mike and I have talked at length about the possibility of having another child with special needs. We, obviously, needed to be open to the chance of it happening, because it is a possibility. However, this time, if at all possible, we want to be prepared.

It is easy to say, "I don't want prenatal testing because I wouldn't do anything, anyway, and I have such a low-risk it really isn't worth it." I know how easy it is to say this, because I said it--three times. I declined prenatal testing with all three of my previous pregnancies. However, until you have been completed blindsided while holding your 1-day old newborn,  as you find out she has Down syndrome, or four days later when you find out she has a major heart defect, you really don't know the impact of that statement.

It is because of this that Mike and I chose to have the "new Down syndrome blood test" done. At 12 weeks, they drew my blood and sent it off to a lab in California. Three different companies market/perform this blood test, the one we had done was called Harmony and would give us with a very high degree of accuracy an indication if our baby has T21, T13, or T18.

We did this test so we could prepare, or to bring us peace of mind. My thoughts on prenatal testing have evolved over the past two years, and now especially since I am carrying our fourth child. I know this test has created quite the uproar in the Down syndrome community; however, for us, it presented us with a non-invasive, highly accurate way of finding out early in my pregnancy if our child was going to have T21, T13, or T18.

Two weeks after the blood was drawn, the nurse practitioner called to tell me that the test came back "low-risk" for all three trisomies (with the Harmony test you can get one of three results; low-risk, high-risk, or positive).

Next month we will go and find out if all else is well with this little bean. I am still nervous, and probably will be until the day I deliver this baby. However, I am anxious to see this baby on the ultrasound screen again and hope that pictures of a four chamber heart and perfectly developing kidneys, lungs, brain and every other organ in between bring some more added comfort. I have had many questions about if we are hoping for a boy or girl. I tend to get a little snippy with questions like that because I have to say, that is the farthest thing from my mind. I truly could care less. I will end with the cliche, "My hope is for a healthy baby"....except when I say it, I truly mean it because I know what it is like to have a baby who is not born healthy.


Sunday, November 11, 2012

Start spreading the news...












To all those whom I kept this secret from so long (pretty much everyone except for my husband and best friend): I apologize. We really wanted our kids to know before the rest of the world, and wanted to wait until the second trimester to tell them. 

Tuesday, November 6, 2012

She's back.

I can now truly report that Charlotte is back to her old self. It is absolutely amazing to see the improvement she has made this week. She eating like a horse, tearing apart the house, and the whining and whimpering has been replaced with smiles and giggles. She is back to acting like a 2-year-old, and we couldn't be more grateful. Can I also tell you that I haven't seen an episode of Signing Time in three days?!?!


What have we been up to?

A zoo class about cows...mooo!

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Eating...
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Swimming...
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Shoe shopping...
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Causing trouble in the wood box...
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Making messes...
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and making more messes....
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Did I mention that she has been eating a ton?! 
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Life is good.


Stayed tuned, a post about Celiac disease, how Charlotte is doing with the new diet, and what I have learned is coming soon. 


Wednesday, October 31, 2012

Looking up.

Yes, things are looking up--thank goodness! The past month has been incredibly stressful and we welcome some good news around here.

Charlotte's blood counts came back yesterday, and both her platelets and her WBC have increased into the normal range. Yay! We are cautiously optimistic that they will stay there and we will never have to deal with the oncology clinic again. However, she will continue to have periodic blood checks just to make sure. I have to say, when I heard this yesterday, for the first time in weeks I breathed a sigh of relief. I have been on edge, freaking out about every mark on her body thinking it could be a new bruise or the start of a rash; it is hard not to assume the worst.

Charlotte finally has started to feel better. Sunday was the first day we really saw a change in her demeanor, and it has definitely continued to improve throughout the week. She is still weak and has lost a lot of muscle strength, however, with the exception of walking around like a drunkin' sailor, she seems to be on the mend. She is happier, taking more of an interest in her toys, and enjoying food again. We can definitely see the gluten-free diet working.

I will leave you with a few pictures. Charlotte still wasn't feeling like herself when the older kids went trick-or-treating, so we didn't even attempt to put on her costume. She hung back and helped hand out candy instead.


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Gluten-free ice cream cone with Lactose-free ice cream. Still a hit. 

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The Bee. 
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The Mario Brothers and Toad. 

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Checking out the loot. 

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Thank goodness peanut butter cups are gluten-free!

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Charlotte and I have been doing a lot of grocery shopping lately; checking out gluten-free options. This is her response when I asked if she liked shopping...
Thank you again for continued thoughts, prayers, messages, emails, letters, phone calls, etc. We have really, really appreciated all the support these past few weeks and realize how lucky we are to have so many people in our lives who care about our girl. Thank you.

Wednesday, October 24, 2012

Surviving...barely.

It has been a rough week. This is going to be quick, as my time is limited and my to-do list is eight miles long. Thank yous from Katherine & Will's birthday party have been sitting on my end table for over a month...maybe you will get them by Christmas?

Charlotte is pretty much the same. Eating a little bit better some days, but her demeanor has remained the same. Clingy, crabby, whiney. I hate to admit it, but I look forward to nap time and bed time so I can get a break from the whining. I keep reminding myself that it is going to take time for her body to heal and we need to be patient. However, it is hard. Mike and I are both exhausted, and in turn very "short" with each other and the older kids. Just keep swimming, just keep swimming....

Smiles are few and far between, but I caught a few the past couple days. I hope when I come back and write the next update we will be on the upswing.


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Trying out the awesome gluten-free cake our friend Alison made us!

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Oh yeah, best purchase in our gluten free quest was a panini maker. I have yet to find a brand of gluten free bread that tastes good when it isn't toasted, so we have been eating a lot of paninis. Charlotte loves 'em!

Friday, October 19, 2012

Aftermath

After a few days at home, I wish I could report that Charlotte is healthy and has returned to her usual, happy self. Unfortunately, that isn't the case. My girl is clingy, cranky, and all around just doesn't feel well. Getting her to eat and drink is quite the feat, and I have resorted to vanilla ice cream for lunch a few times just to get something in her stomach. She is weak, hardly walking, still having major intestinal stuff going on, and has lost more weight.

We know that it is going to take awhile for her body to heal itself. The nutritionist we met with yesterday told us to expect at least two weeks before we see a change, and a few months before we see a major difference. We spent a few hours at Children's yesterday learning about about gluten-free living. It is interesting to see how diagnoses effect everyone differently; there were a couple other families in the training with us, clearly rocked by the loved one's Celiac diagnosis. Mike and I are actually happy to have this diagnosis; not that we ever what something to be wrong with our child, but compared to what I thought she was going to be diagnosed with early this week, we are thrilled she has something that can be controlled by diet.

So, we truck on. I offer her multiple types of food all day long in hopes that she will eat. Right now, it isn't that she is turned off by gluten-free food, but rather just food in general. She associates food with making her feel crummy, so she doesn't want it. The one thing she does want is to nurse, which at this point, I am happy that she is at least getting some good nutrition in her belly a few times a time. However, because she is still nursing, I also have to be on a gluten-free diet. I will get to know first hand what she will experience the rest of her life.


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Charlotte at dinner tonight; lots of choices, but nothing looked good to her.

Thanks for checking in! We are going to attempt to have a relatively normal weekend, I'll let you know how it goes. Enjoy your weekend!

Tuesday, October 16, 2012

Home.

This is going to be quick, as I am exhausted and all I can think about is taking a hot shower and sleeping in my own bed.

We are home! We are all pleasantly surprised that they let us go tonight, and Charlotte is thrilled to be home.

The rest of the today in a nutshell...

GI doc (who looks exactly like Robin Williams) came and diagnosed Charlotte with celiac disease after receiving the results of her screening. Her levels were pretty high, and most likely this is the reason for her increased fatigue, lack of energy, and willingness to want to do any activity. It also most likely is the reason for her diarrhea  weight loss, and crankiness. Yay! We have an answer. The solution? A gluten free diet. There is a learning curve, but I am sure it will soon become a way of life. We meet with a nutritionist on Thursday for a 3-hour gluten-free living crash course.

I wish that all the worry could be erased. However, celiac disease, unfortunately is not the reason for her low platelets and white blood counts. We don't know the reason for this, and will still monitor them weekly over the next few months. I wish today could have ruled out leukemia completely, however, there is still the possibility that we caught the low platelet level early, and did the bone marrow biopsy too soon. Kind of a weird concept hey? Catching cancer too early?

Celiac and leukemia can be related. Celiac and autoimmune disorders (like thyroid issues) can also be related. We hope with diet changes, symptoms will improve and blood counts will return to normal.

Again, I can't thank you enough for your support.

Good-ish News.

In the words of the oncologist  "I have good news. The bone marrow, as of right now, does not indicate leukemia. However, we are not out of the woods yet, as her blood counts are still off and we don't know why."

The plan is to do blood work every 1-2 weeks to check her levels and pray they go up. He also didn't have an answer to her lack of energy/lethargy, so we are hoping that improves as well. They are sending her marrow for a more in depth chromosome study. In addition to her extra 21st chromosome, most kids who develop leukemia have other additional dna material. If her blood counts continue to get worse, another bone marrow test will be done. It could be that we just caught it too early.

I am taking a bit of a deep breath right now, and hope like heck she starts to feel better.

More later, not sure when we are going home. Oncology is ready to discharge us, but we are waiting on GI.

I'll keep you posted. Thank you, thank you, thank you.

Monday, October 15, 2012

Broken.

Tonight I am feeling pretty broken, very sad, and incredibly scared.

Charlotte's bone marrow biopsy is scheduled for 10AM tomorrow. I am not feeling optimistic at all. Call it a gut feeling, or the vibe I am getting from a few of the doctors and nurses here, but I feel that everyone already knows the news we dread will be confirmed tomorrow. A few have made comments that I felt were "preparation" for us. I hope I am wrong. I hope by typing this I just jinxed it and everyone can look back at this tomorrow and give me a hard time for being more positive.

I just want my baby to feel better. It sucks seeing her like this.

I will update when we know more. I think they told me it would take 3-4 hours to get the results after the biopsy.

Until then, if you aren't on Facebook, here are some pics from the day. Thanks for checking in. We felt lots of love today in the form of texts, emails, Facebook, and calls. I apologize for not responding to a lot of you, please don't think your message or prayers are overlooked. We are blessed.


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Looking for answers.

Last night, after consulting with our pediatrician, we decided to take Charlotte to the ER, and ultimately admit her to the hospital to figure out what the heck is going on. Her health declined all weekend; to the point where she would not move off our laps all day Sunday, ate/drank next to nothing (except for nursing....that she has upped from her normal once a day to 5-6 times a day, I am sure for comfort mostly), and whined/whimpered the entire time she was awake.

Almost twelve hours after being admitted, we know nothing. Charlotte was hydrated, and immediately perked up and ate an entire medium fry from McDonald's, the most she has eaten in a week. She slept okay despite the constant disruptions from nurses, and seems in okay spirits. They did more blood work last night, this time showing her platelets still low (though a bit higher than Friday) as well as her white blood count. However, no abnormal white blood cells have been found as of yet.

Both oncology and GI have been in to see her this morning. Oncology, obviously wanting to rule out leukemia. Their plan is to give it another 24 hours and repeat her CBC tomorrow morning. If her counts are still off, they will do a bone marrow biopsy tomorrow. GI wants to rule our celiac disease (which they say could be causing the diarrhea, but not the low platelets), so they drew blood for a celiac panel today. Those results will take a week, however.

That is all I know. Charlotte is doing okay. She was cranky this morning, but when Mike got here, she immediately perked up shouted "hi" and signed "dada." I think she was happy to see a familiar face and not someone else who would poke and prod at her. She is in a really good mood right now, eating a fruit cup, sitting on Mike's lap, watching her um-teenth episode of Signing Time this morning. Lets hope she naps.

Thank you, thank you for all the messages of love and prayers. It means so much to us to have such a huge "web" of support behind our girl.


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Saturday, October 13, 2012

Rainy, Gloomy Heart Day/Birthday

Today, we celebrate Katherine's 7th birthday and Charlotte's 2nd healthy heart day. However, right now, the weather mirrors my mood.

Worrisome things are going on in our household. For the past three weeks, on and off, Charlotte hasn't been feeling well. Lots of intestinal stuff going on and just all around lethargy. When she is awake, she often signs "sleep" and rarely wants to leave her little chair in the living room. She repeatedly signs "baby signing time" (meaning she wants to watch TV) and is incredibly hard to engage in play. At therapy, which she loves, she has been withdrawn and hard to motivate, often folding herself in half on the floor and refusing to participate.

I have tried to figure out what is going on--at first I thought a virus, then maybe a food allergy? I took her in last week for a strep test after Katherine had been sick with strep, maybe that was it? Nope.

Yesterday morning, I knew it was something more. This behavior is not typical of Charlotte. I took her to the pediatrician, and they did a blood draw (what a mess that was!) to check various levels.

As a parent to a child with Down syndrome, the big scary medical issues are never far from your mind. You are always waiting for the other shoe to drop. Children with Down syndrome are 10-20 times more likely to develop leukemia than typical children. I know the signs to watch for, I follow blogs of children currently facing this awful disease, and I have often thought to myself that I can handle everything that comes with Down syndrome--but that.

The oncology clinic at Children's hospital called yesterday afternoon to schedule an appointment. Apparently, while they assured me they are not diagnosing cancer, Charlotte's blood work was wacky, and coupled with her crazy behavior, warranted a trip to the oncology clinic to explore things further.

Our appointment is Tuesday. To say that I am a nervous wreck, is an understatement  I have visited a lot of clinics at Children's during the past couple years; I truly thought oncology would be one we could avoid.

It is ironic that two years ago, on October 12th, I was a crying, nervous wreck as cardiology called and had to move up Charlotte's heart surgery. Yesterday, on October 12th, I was a crying, nervous wreck as the secretary from the oncology clinic called to set up an appointment for Charlotte.

This could be other things--a virus, some sort of infection, etc. We are trying not to jump the gun, but that is easier said than done.

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However, until then, we have some celebrating to do.

Seven years ago, my little red-headed peanut came into this world and made me a mom. Today, she is a strong-willed, independent girl with a zest for life. We often butt heads; mostly because we have a lot of personality traits in common, but as much as she stresses me out at times, I am so proud of who she has become. She has grown so much over the past year (I think elementary school does that to kids!), and has done so well. Her first-grade parent/teacher conference was on Thursday, and her teacher had nothing but good things to say. She loves reading/writing, and is a great asset to their class. At home, there are the fights between siblings, but for the most part, I can always count on her to help me out with Charlotte or around the house. She really is a "typical oldest" child and possesses a boatload of maternal traits.

Two years ago, I handed my younger daughter, who was in heart failure, over to a team of doctors/nurses who repaired her heart and made it a possibility that she will never have to have another heart surgery. Charlotte came home healthy, and full of life after only five days in the hospital. The amount of joy she brings to our lives is astronomical, and I cannot imagine life without her.

I said it last year, and I will say it again, October 13th will always be about my girls.


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Happy 7th birthday to my eldest and happy 2nd heart day to my youngest! Love you girls so, so much.

Off to make chocolate chip pancakes and open presents, have a good Saturday!

Monday, October 8, 2012

A Down syndrome break.

Hello all!

To answer a few recent questions from my readers...

Yes, I realize it is Down syndrome awareness month. No, I am not doing the 31 for 21 blog challenge this year. Why? I am on a self-imposed Down syndrome break. For the past 26 months I have immersed myself into blogs, message boards, informational books and websites as well as the local Down syndrome community in an attempt to wrap my head around my daughter's diagnosis. I spent sometimes hours each night reading, learning, and planning out ways I could best help my daughter. And guess what? I am burnt out.

Please know this; I am NOT on a Charlotte break. I love my daughter with all my heart, and will continue to do everything in my power to provide her with all she needs to succeed. However, I am taking the advice of a friend. No more reading blogs and message boards for hours each night for awhile, instead ticking off some of those things that have been on my to-do list forever (like the kid's yearly photo books...I got to year 2 for Katherine and that's it..which means I have about ten to do!) and maybe picking up a new hobby or two?

Don't get me wrong, Down syndrome awareness is very, very important to me. However, I long for a day when "Down syndrome awareness month" doesn't have to exist, because Down syndrome will be accepted by society. Having an extra chromosome won't mean battling stereotype after stereotype, but instead be "okay." A mom can dream, right? (Disclaimer: I do realize that in order to get to this place, we need to spread awareness/knowledge, which is what DS awareness month does. Remember how I like to live on a optimistic cloud sometimes?). That dang fine line of "hey, I want my kid to be treated like every other typical kid" and the "hey, look at my kid, she's special--please donate money/time so I can make everyone aware of that"...I struggle with this one a lot, but that is a whole different post for when I am no longer on my DS break.

Because I am not on a Charlotte break, here is what she has been up to lately....looks like a whole lot of typical 2-year-old stuff if you ask me:


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Playing ball with my brother. 

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Testing out her new potty. Charlotte signed "amazing" when she sat on it (those Potty Times friends with understand this one). 

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Watching Will's soccer game. 

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Shopping with mom (and enjoying her new favorite snack...don't try to cut it up though!). 

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Welcome to fall in Wisconsin! Bring on the 40 degree days. Brrr. 

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Sandbox fun on a windy, cool,  fall day. 

Thanks for sticking with me even though blog posts have been few and far between. I am not a blog writing break; I will be back to update about my girl. A Charlotte update written by Charlotte, as well as another party post, and a 2nd heart day/7th birthday post to come.