Rambling & TS Awareness!

Ahh... bedtime... My personal favorite part of the last couple of days.  It seems like the kids are secretly hatching plans every night before they fall asleep as to what they can do to torture me the next day.  Kids 1 Mommy 0.  Today it was the loveliness of James dumping out a newly opened bag of potato chips on to the freshly vacuumed floor at the same time Lily was having the MELTDOWN of the century.  Cute guys, real cute.  I guess I learned that James is now big enough to grab stuff down from the counter, either that or his trusty sidekick "Sissy" got them for him.  Lily's meltdown started when I told her and her friend Olivia (play date today!) to clean up her room before Olivia's mom came to get her.  Lily told me it was "WAYYYYY too hard" and "I refuse to do it Mama."  Seems like I am raising a rebel already.  She did it, crying the entire time, and then her friend's mom came which took the meltdown to an entirely new level.  NAP TIME quickly followed for her.  The kid is 4 and I can honestly count on 1 hand the amount of times she has napped since the age of 6 mos. so it was truly amazing to watch her sleeping when the sun was still up.  No complaints here.  I will take a daily meltdown if it means an hour and a half of nap time follows.  Mom's of little napping babies, cherish every second of nap time; you will miss it the most when it's gone. 


The weekend was pretty uneventful.  Saturday morning was Lily's dance class.  It is like a top secret CIA meeting in that room.  No moms/dads allowed in or even to peek.  The secrecy makes the recital so much more fun, but in the meantime I am dying to see my little ballerina tapping away. (I know, ballerinas do ballet and not tap but I can't think of the name of little tap dancers right now... I'm tired.)  Saturday night, Grammie stole the kids for the night and Jimmy and I were able to do dinner and a movie which is always super refreshing because nights out are few and far between.  Sunday was a lazy day here.  Like I said, completely uneventful, but sometimes those weekends are the best ones.


Ahhh that is all for now.  Nothing too new going on.  The snow all around is starting to make me stir crazy.  It was fun at first, but now I want winter to have a Xanax and chill out!   


I have been getting some awesome emails from people regarding this blog and gluten free stuff etc. so PLEASE keep them coming!  I love it!




PS.


February is....

TURNER'S SYNDROME AWARENESS MONTH!

Here are 7 facts of TS that were emailed to me from TSSUS.. Become aware!

1. TS affects only females.

2. One in 2000 female births is affected by Turner syndrome

3.      The average height of a women with TS without Growth promoting therapies  4’8”

4.      Half the girls with TS are not diagnosed until they are teens or preteens.

5.      Individuals with TS have an increased risk of non-verbal learning disorder.  In school and work, these impairments can cause problems in math, visual-spatial skills, and executive function skills. 

6.      Early diagnosis and treatment with estrogen from the teen years into adulthood is essential prevent crippling osteoporosis in the adult woman.

7.      Ask TSSUS to send a “Short Happens!” button to your doctors to help crush ignorance of TS!

Lily's Baby Book

So I may now be reffered to as "Slacker Mom."  I have my baby book (which is actually a calendar) and I remember being prego with Lil and thinking how I would do what my Mom did and for her entire first year I would let her know at LEAST 4-5 activities we did that week .. Yeah well it's funny how life always has other plans for us, so needless to say, her baby book stops around page 3.  So a while ago I decided to put her pictures together and make her a "video baby book."  Cool idea I thought.  I added some more pictures recently and put it to some tear jerker music (REALLY LISTEN TO THE LYRICS OF THE 1ST NATALIE MERCHANT SONG -- WONDER!) <--- I don't know why that's in caps.. It made me feel powerful.  So I thought it was a cool way for the newbies who are now looking at my page to be able to put a face to a story.  I know it's obnoxiously long so I promise I won't be disappointed if you skip some of it.  Enjoy!

Lily had a fabulous time watching it!

She made me play it at least 6 times and cried when it ended.

On another note, we went to the optometrist today to get Lily's eyes checked out because I swear every time I back her away from the TV she is like swiper the fox and back there faster than I can turn my back.  Needless to say, its developmental and she is fine, eyes are great!  We will be going back next year because with TS does come the possibility of eye problems in the future.  Geesh -- What isn't a possible problem with TS?  Even I am overwhelmed with keeping up with it!  Oh well, looks like our road of life just has a little more traffic than the rest of the world! 

Enjoying the Small Things

We all remember the anticipation of a snow day as children.  Sleep with your jammies inside out, put that spoon under your pillow, do the "snow dance;" try to deny it but we have all done one of those! Well, not Lily, Lily was pissed when she woke up this morning and there was no school. "But Mama, it's gym day with Mr. Harrington, and we were gonna do sledding at recess!"  Yes, I know, she's still too young and naive to realize that snow days are the best days ever!  I secretly hoped she would have school today as well.  I've never been much for loving to play in the snow and I know that if there is no school, it is written somewhere in the "How Not to Screw Up Your Kids Handbook," to take your kids outside to play in it. So needless to say, against everything in me, Lily and I went sledding.  I was not looking forward to going at all, but we as Moms do a lot of things we do not want to do (i.e. nighttime feedings, crappy diaper changes etc).  We were lucky enough to have Daddy home for the day, so we were able to do something just "us girls."  Girls days are few and far between these days now that we have a little boy tagalong in our James.  Don't get me wrong, we love him to pieces and I swear he is the comic relief of my life, but hanging out with this little mini me I have created is a blessing in itself.

James and Daddy made a mess of the house while we were gone

So off to the park behind Middleboro Police Station.  I actually had to call a friend from the area and ask the best places to sled around here.  Usually when we go play in the snow it's just outside our building and sledding was something we had yet to attempt.  This hill was pretty decent.  Being from Marshfield, I was spoiled by Coast Guard Hill, and this one just couldn't compare.  Apparently it was the place to be today though because there were kids everywhere.  To know how Lily would react, you have to know this kid is petrified of her own shadow.  If you say the word "Santa," she goes running and hiding because she is horrified of Santa.  We took her to Storyland for her 4th birthday and got her on 2 rides in the whole park (talk about a waste of $$!). So I didn't give her enough time to think about anything.  I put her tiny butt, and my not so tiny butt on the sled and down we went.  She SCREAMED bloody blue murder the whole way down, and as soon as we got to the bottom she got up with an ear to ear smile and started laughing her little butt off! 

"AGAIN AGAIN MAMA!"  So up and down we went 4 or 5 times and by we, I mean her sledding down with me and me trucking her back up the hill.  Then she decided she wanted to make a snowman.  Over to the field we went to make one, but if you have been out in the white stuff, you too will know this is not good snowman snow, so we settled for a "snowball fight" which consisted of Lily just throwing snow at my face and thinking she was the funniest human being that ever walked the Earth.

making snowballs

After the joy of pelting me in the face subsided we made some fabulous snow angels.  

My angel making an angel

Our Matching Snow Angels

So my dread to go and experience sledding was overwhelming and when I sitting there getting snow thrown at my face, I realized this was the best time I had had in so long!  I feel like I am so caught up in getting the house cleaned, dinner cooked, studying, working on Lily's letters and numbers, bath time, story time, and bedtime that sometimes I forget what really matters.  It isn't the hundreds of toys under the tree Christmas morning, or the lavish vacations we take that matter to our kids; It is the times like these when Lily was running through the snow, falling, throwing snowballs, making snow angels, and laughing the entire time that really matter.  As we were leaving she said "Thank you so much Mama; This was the BEST day ever!" That is what matters.  Enjoying the little moments that mean the most.  She won't remember all the dolls she had when she is older or the trip to Disney World we took when she was 3, but she will remember the spontaneous dance parties we have in the living room where she teaches her brother the basics of booty shaking, the bike rides that take hours to get around the block because she walks and rides and smells the flowers, making sand castles at the beach and then smashing them to pieces, and the snow days we spent sledding, throwing snow, and making angels.  To top it off I had a blast myself!  I loved every second of playing in the snow, and if the domestic duties of making dinner hadn't called me home, I probably would have spent even longer doing so.  Lily really hit the nail on the head, today was the best day ever!

Feelings

I think that feelings are a lot of times underrated.  We all feel things at certain times yet it is hard to put those emotions on to paper.  This post is going to be me trying to put them all out there and let you all know my honest emotions about how I have felt.  I hope one day Lily can read this blog, when she is old enough to understand, and see that although it hasn't always been easy, I wouldn't trade one ounce of it for anything in the entire world.

"God will give never you more than you can handle."  This is honestly my motto for life.  I keep trying to think and remember that I can get through anything.  I repeated this to myself over and over and over, and told myself that I would make it. 

When she first had her seizure I remember the world spinning.  I couldn't form a coherent thought.  I remember the feeling of drowning without water.  I was looking at faces; everyones faces, trying to read their emotions.. trying to see what they thought was happening to my Lily.    I remember touching her, her skin, her hair, her tiny fingers and toes, and just trying to feel her to make sure she was still there.  The feeling of helplessness was overwhelming.  There were 15 people in the room and I couldn't fix it.  I couldn't hold her close and whisper sweet lullabies in her ear because the blood had to be drawn, the wires had to be hooked up, and she had to be watched.  When I could finally hold her I just couldn't put her down.  I didn't want to, I couldn't part with feeling her soft breath on my chest.  

I remember when the thought of Turner Syndrome finally set in.  At first it was relief.  She could live with Turner Syndrome, she could walk, talk, breathe, and just be on this Earth, something she couldn't had it been CDG.  When the feelings of what TS fully meant set in I felt a sadness that I couldn't express.  Whenever a mothers little baby girl is born, dreams are born with her.  I thought of her playing with dolls, and then the lunch dates we would have followed by mani/pedis as she got older.  I thought about how I would stress she get A's in school and get into a prestigious college because no girl of mine would EVER be dependent on a man!  I remember thinking about what her husband would be like and how beautiful her children would be some day.    It never once occured to be that she could be sick or have trouble with these things.  The only time I cried when TS was being fully described to me was when they told me that she would not be able to have children.  It felt like someone had punched me in the gut.  For as long as I can remember I wanted to be a Mommy.  I felt like it was what I was meant to do in life and I come from a long line of FANTASTIC Moms.  I remember sitting around with my neighborhood friends and playing dolls and picking out my future children's names (never got my Michelle! haha). I still wonder how one day I will tell her the having her own children is not going to be an option for her.  She may one day find a fertility doctor to try in vitro with her, but it is risky and the chances are not great for her to conceive and even less to have a healthy baby.  I feel sad about it.  Heartbroken.  

Sometimes I worry about her being picked on for being so small.  I see it at preschool already because lately the children have been calling her a "baby."  I don't know if I am doing the right thing by not letting the teacher know what is going on, but I really really want Lily to learn to deal with these things.  This is something she will forever be encountering.  Children can be mean (not as mean as teenaged girls, but still mean).  They have no filters for what they say and don't understand empathy yet.  She will have to learn her own ways to deal with ridicule.  Obviously if it got to the point where she was coming home crying I would intervene, but we aren't there.  She usually has some sort of witty comeback, and I am all the more proud of her for it.  Her personality and sass is what will attract people to her.  Her Auntie describes her as "magnet" as someone who are you are immediately attracted to, and who wouldn't want to be described that way?  Her personality makes up for what she lacks in height.  

When she was diagnosed with Celiacs my first thoughts were, "The poor thing, another thing that makes her 'different'." But honestly, that is the least of my worries these days!

Yesterday a very wise woman who I really respect told me that if I am sad about it, Lily will be sad about it because she will think she is different.  I never let her see my sadness, and that is ok for now, but soon enough she will be able to feel and sense when I am having one of my days.  I am a constant worry wort and if I wasn't worried about this, it would for sure be something else.  I get asked a lot what it was like to find out she did have TS and how I felt.  So there it is! My emotions for today! 

I saw this poem the other day and smiled, because I feel like God gave me Lily for a special reason because I would not change a single thing about her.  She is my life.  She saved me from myself and has brought me more smiles, laughter, sleepless nights, and tears than she will know.  But they aren't the sad tears, more like the happy ones because I am the lucky one to be chosen for her and I count my blessings every day.

This poem is to remind all the mommies of kids with special needs how amazing they are!

The Special Mother

by Erma Bombeck 

Did you ever wonder how mothers of disabled children were chosen? 

Somehow I visualize God hovering over the earth selecting his instruments of propagation with great care and deliberation.   As He observes, He instructs His angels to make notes in a giant ledger. 

"This one gets a daughter.   The Patron saint will be Cecelia" 

"This one gets twins.   The Patron saint will be Matthew" 

"This one gets a son.   The Patron saint.....give her Gerard.   He's used to profanity" 

Finally He passes a name to an angel and smiles.  "Give her a disabled child". 

The angel is curious.  "Why this one God? She's so happy" 

"Exactly," smiles God.  "Could I give a disabled child to a mother who does not know laughter?  That would be cruel!" 

"But has she patience?" asks the angel. 

"I don't want her to have too much patience or she will drown in a sea of sorrow and despair.   Once the shock and resentment wears off, she'll handle it.   I watched her today, she has that feeling of self and independence that is so necessary in a mother.   You see, the child I'm going to give her has his own world.   She has to make him live in her world and that's not going to be easy." 

"But Lord, I don't think she even believes in you" 

God smiles, "No matter, I can fix that.   This one is perfect - she has just enough selfishness" 

The angel gasps - "Selfishness? is that a virtue?" 

God nods.  "If she can't separate herself from the child occasionally she won't survive.   Yes here is a woman whom I will bless with a child less than perfect.   She doesn't realize it yet, but she is to be envied.   She will never take for granted a 'spoken word'.   She will never consider any 'step' ordinary.   When her child says "Momma" for the first time she will be present at a miracle and will know it.   I will permit her to see clearly the things I see...ignorance, cruelty and prejudice...and allow her to rise above them.   She will never be alone.  I will be at her side every minute of every day of her life because she is doing my work as surely as if she is here by my side" 

"And what about her Patron saint?" asks the angel, his pen poised in mid air.   

God smiles "A mirror will suffice" 

Endocrinology Visit

Yesterday was Lily's endocrinology appointment up at Tufts with Dr. Bansal.  She goes every 3 months to check in with her doctor.  He likes to be able to check her height and growth and draw blood labs to check her insulin, glucose, A1c (monitors how good blood sugars have been over the past 3 months as a whole).  He also checked her Celiac levels, Vitamin D, Calcium, Phosphorus, growth hormone and had her get an X-Ray so we would have a better understanding of her bone density (all those labs are for some of the nursing girls who would like to know about the treatment!). He also checked her thyroid levels.  Although she is the total opposite of someone whom you would assume to have hypothyroidism, she does have a past history of it and her numbers are usually borderline for meds.  Someone with hypothyroidism has a slower metabolic  rate (think Oprah, she has it!) and are usually heavier, sweat alot, fatigue, constipation, irritability, etc. Hypothyroidism is when your thyroid just isn't making enough of the hormones it needs for a normal body function (in a nutshell).  It is one of the clear signs of Turner Syndrome and a lot of girls have trouble with their thyroid. They check a hormone in the blood called the TSH (thyroid stimulating hormone) and the  norm is between .5-5.5.  Lily usually runs around 7, but her doctor doesn't want her on meds unless she is around 10.  I love that about him.  I love that he isn't quick to just throw meds at us and ship us out the door.  He really doesn't put her on anything unless she absolutely needs it.


We had the growth hormone chat yesterday as well.  As some of you know, Lily was on growth hormone last year for about 6 months.  She did fabulous on it and grew about an inch and gained 2 pounds.  May not sound like much, but when you are 4 years old, 37 inches, and 27 lbs, it is a ton!  The hormones were doing great.... then we lost health insurance for a 3 month period.  Health insurance will be the death of me.  So many red tapes to get through, approvals needed, referrals for this and that, and so many No's! So when we switched from Children's to Tufts (I am probably the only Children's Mom in the world that doesn't like the care they give at all!) last September, her doctor wanted to get a feel for her growth on her own.  He wanted to monitor her for a few months and then reevaluate what she needed.  When he took her labs when we were last there, her growth hormone levels came back normal, but he is going to start her again on the hormone.  I am really excited for her to start them again.  Lily is such a tiny girl.  When I go into her Pre-K classroom, her "smallness" (if you will) sticks out ten-fold.  She is at least an entire head shorter than everyone in her class. I am really excited to start her on the hormone again and see how she does on it for an extended period of time.  The growth hormone is given as an injection once a day in either her thigh or arm.  It is given subcutaneously, so it doesn't have to go into a blood vessel or a muscle.  Lily hates the shots, but was finally adjusting when we lost the prescription for it.  A lot of people ask me about the side effects of the growth hormone, and they are serious, however, the benefits definitely outweigh the risks for our family.  I think every family has to sit down and make their own decision about it, but to be honest, it was a pretty easy decision for us.  The risks include a slip of the growth plate in the hip which would require treatment, and the severe and sometimes fatal risk of increased intra-cranial pressure that has to be managed IMMEDIATELY.  I have gone into her school and explained to her teachers and school nurse that if Lily ever had any migraine or severe headache symptoms that an ambulance needs to be called immediately and she needs to be taken to BOSTON and not some hospital around here.  Like I said, these side effects are SO rare, but with Lily, we have had some of the rarest occurrences happen, so everyone in her life needs to be aware of warning signs.  The growth hormone therapy costs upwards of $10,000-$15,000 per year.  It is not a drug that many insurance companies want to pay for.  Since Turner's is one of the FDA approved treatments for growth hormone, I am hoping she gets right on it (though last time it took 10 months to get her on it). I am really excited to start the injections again and I hope we can get them going within the next couple of months.


He also wanted an X-Ray of her hand in order to get a picture of her bone density as that is a problem with Turner's girls as well.  I will be interested in seeing those results.  

Love at 1st Sight!

So after our 5 hour long adventure for a 45 minute appointment, we made it home!  I will keep everyone posted on her labs!  Cross your fingers for our growth hormone treatment as well!  Thanks everyone!

Dining out Dilemma

Today was fun! Since there was no work/school for Lily and I we decided to meet my mom for some lunch and shopping.  After looking up every restaurant that carries a gluten free menu, Chilis was what was local so we decided to go there.  You would assume, since they offer a gluten free menu, they would have a clue.  Well, you know what they say about assuming -- it makes and ASS out of U and ME! When we got there, I informed the hostess that I would need a gluten free menu.  I had viewed it online, but I just wanted to make sure that Lily was getting what she wanted.  The hostess told me she would have to "go look for it." So after 10 minutes of sitting at the table and ordering drinks, I asked the waitress again for a gluten free menu.  A few minutes later the hostess came back and told me that the manager was printing it out now.  Printing it out? Are you for real? You really don't have a copy of it? Not too reassuring.  I placed Lily's order of a cheeseburger (minus the bun) and some corn on the cob.  French fries are gluten free, and she would have loved those, but they are only gluten free if they have a designated frialator, if not then it is as good as eating a slice of bread.  So a couple minutes after we placed the order, the waitress came back and asked for the piece of paper they were passing off as the gluten free menu.  My mom and I looked at each other with that "What the hell?" expression and gave her the menu.  No sooner do we give her the menu does the manager come out.  He said "It is just our policy to come out when there is a food allergy.  Who has the allergy?"  I told him it was Lily.  He then informed me "Ok, so the burger is going to come on a whole wheat bun, is that ok?"  OH MY GOD -- Why have a gluten free menu if you don't have a clue?  I mean it CLEARLY says on the menu that the server just brought back to you that it comes without a bun.  So I proceed to explain to him she wants the burger, no bun, and it cannot touch any food that has wheat, rye, or barley in it.  Just bring the kid a damn burger already!  I mean I wasn't upset about it after all, because I would much rather he come out and ask me than try to serve the kid a burger on a whole wheat bun.  I can't say I was thrilled with our first gluten free dining out experience.    


The burger eventually came.  It was quite humorous that it came out on an appetizer plate with just the burger on it.  It didn't look like a good meal to anyone!  Lily had actually never agreed to eat a burger before today.  She always told me she doesn't like them and I could never get her to take a bite of one.  Well she ate the whole damn burger today.  I was pretty impressed.  So we obviously had to go get a prize today for eating so well lately.  I am all about bribing and positive reinforcement! If she keeps this good eating up, I am going to need another whole apartment for all of these toys! 


Thanks again for all of the positive feedback on this blog.  All of you are giving me such great comments and amazing uplifting messages/emails.  I hope you all continue to follow her story!

Gluten Free is the Way to Be!

Yes you read the title right!  Lily has been saying it for a couple of days now!  She is adjusting to her new diet quite well.  She is getting really good at asking "Is that gluten free?" before she takes any food.  She did it all night at her Grammie's the other night and has been even asking me!  She has been enjoying the food that she has been eating and I don't want to jinx it but she's been eating better than ever!  It makes me wonder if she has had this dull ache in her stomach her entire life from eating gluten.  In reality, who would want to eat anything if they constantly had a belly ache and every time they ate food it only made it worse? I sure as hell wouldn't.  So now that she is eating gluten free I am sure her the inflammation in her intestines is slowly but surely going down and she is feeling better.  I have noticed she has also been whining a lot less in the past few days.  It makes me wonder if it is all linked together.  Feeling better, acting better, eating better; yes it all makes a Momma a happy girl! 


There are tons of gluten free products I have found.  I am a big fan of the "Dr. Praeger's broccoli littles."  They are little chicken nugget shaped potato and broccoli bites and Lily had NO idea there was any veggies in them!  She ate them all up.  She's been eating more vegetables than ever, and really sitting down and enjoying meal times.  It's only been a week and she is doing remarkable.  James is enjoying his gluten free diet as well.  Seeing that I am going to school to be a nurse and not a short-order cook, he is eating gluten free as well so I don't have to make 3 meals a night.  He would eat cardboard if you served it to him, so needless to say he is enjoying the gluten free food too.  He will be joining Lily next month at the nutritionist so we can figure out his milk and soy allergy and try to start getting some sort of dairy substitute in his diet, but that is a story for another day.


So overall, all is well at the Bowen household.  I am so happy at how well she is doing and I find myself wanting to be more creative with her food.  Hopefully I can fatten this kid up in no time! We are going to the endocrinologist next Thursday where I am sure we will spend half of the day because I just don't shut up when we are there!  I can't wait to let him know about the research study at Stanford and all of the new things I am learning!  You may be surprised but I feel like half the time I know more about Turner's than the doctors do.  It is so rare that they don't see it very often and often have to be educated about it themselves.  So I will go in and share with him everything I am finding and get his professional opinions on it all! 


Have a great weekend everyone and GO PATS!

My little Rockstar