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

Gray Day

Today is a gray day.  One of those, don't want to get out of bed, snuggle up to Sesame Street, turn off the phone kind of days.  It is not a sit and bed and cry day, but more of a BLAH kind of day. However my kids aren't having a gray day.  Their essential morning tunes of "I'm hungry Mommy," "Can I have a drink," "What are we going to do today," made me move.  I think this blog has been such a therapy for me.  Putting it all out there and sharing Lily's story has taken some sort of burden off of me.  I feel like I have released all that has happened and I am now ready to open the next chapter.  I try to stay in the positive about everything that is going on, but after staying up until past midnight just reading and reading and trying to become more informed, I honestly just felt bummed out.  


I hate to think about what could go wrong, what should go wrong, where we will be in 20 years, but I still do.  The world is a big scary place and I have a little tiny girl.  I feel like this world of Turner Syndrome is a secret world.  Only.04% of Americans have Turner's.  It is like this unknown phenomenon that I can't get any constant answers from.  When I once asked an endocrinologist (who shall not be named -- to protect the guilty) if she would live a full life, he replied with "Well I have heard about TS girls living to 18."  Seriously guy? Seriously? 18 is when life starts, it is when we start to discover who we really are as people (and it takes many years after that).  He was wrong.  Anyone I have talked to with 1/2 a brain has been able to tell me she will live, thrive, love, laugh, hurt, and share herself with us for years and years after that.  I don't know why I google things when I know I shouldn't, but alas, I do it anyways.  I read about all of the heart conditions and how prevalent they are, how learning disabilities strike our TS girls, and how their short stature can cause ridicule amongst their peers.  I have googled it all before, read it all before, but for some reason, it all made today a gray day.


But, kids don't have gray days.  They look to Mommy for fun times! So off to kick my own butt and get over my "Woe is me," attitude.  Off to shop we go for new snow boots!  After that, we will have a "white day," covered in snow and the innocence of a child who will know no boundaries. 

Becoming Educated

Wow! You guys are great!  I have gotten so many recipes, good places to shop and some great gluten free product ideas!  I want to thank everyone for all of your help and the information you have been offering.  A friend of mine, Mary-Ann, dropped off some gluten free chocolate chip cookies and some other gluten free products yesterday.  She was kind enough to get a whole new cookie sheet and spatula to make sure she didn't contaminate Lily's food!  The cookies were the gluten free Betty Crocker brand and they were good!!!  The only difference I noticed was in the texture of the cookie.  Lily LOVED them!  I think she's eaten about 10 cookies already!


Her teacher sent a letter home yesterday that she is teaching the kids a new finger-play song about penguins and at the end of the song she gives all of the children a goldfish (must go along with the theme).  She asked for me to send in some sort of special gluten free snack Lily could have after the song and I thought it was really cool that everyone seems to be slowly adjusting to this new lifestyle.


I have been diving hard in to the Turner's world lately.  I have been joining groups, looking to talk to teenagers and older women with Turner, and basically just try to educate myself as much as I possibly can.  In reality, the only advocate a child has are their parents, so in order to get her the best possible care with the best possible outcome, I have to educate myself as much as I can.  There is a great foundation (www.turnersyndrome.org) that is the Turner Syndrome Society of the United States.  They hold a national conference every year, and I think I am going to go.  I have enlisted my Mom and my mother in law to go with me.  This year it is in Buffalo, NY and it is a 2 day conference.  I hope to go and meet some women with TS that can tell me more about their story and some things they wish that they knew to do when they were younger.

I also found a section of the website called "research."  I found this really cool study in Stanford University.  They are looking to do a neurological study on girls aged 3-12.  They want to learn more about learning, behavior, genetics and brain development of girls with TS. I emailed them to find out some more about the study and it would involve flying out to California (all travel and lodging expenses paid) where they would spend 2 days with Lily.  On day 1 there would be an IQ test, behavioral studies and about her learning habits.  Day 2 would be Lily having an MRI where they would play different types of games with her and watch how her brain reacts.  I think it would be so cool!  It is the first study of its kind done and we would continue to get updates on the study and different things they are finding out.  We would return a year later for a repeat study.  I have to send them Lily's genetic testing that diagnosed her with TS and we should hopefully know if she is accepted for the study in the next couple of weeks. If you would like to see about the study, here is the link: http://cibsr.stanford.edu/participating/participating_turner.htm

That's all she wrote... for now!  Hope everyone is enjoying the snow storm and hopefully a day off from work!

Looking Back

As we come up on the 4 year anniversary of "the day that changed everything," I thought now would be a good time to look back.


When Lily's pediatrician told me she should go to see a neurologist to see if she needed to be fitted for a shaping helmet for her flat head, I think I cried. Pathetic now, looking back, but I was so scared for Lily, a baby helmet? Now I can look at that and laugh!  She never ended up needing that helmet, her head was fine after all, but it is actually comical to think that I was so shaken by such a small thing.  I guess I was again too naive to know anything.  I thought this neurology appointment was such a big deal, I made Jimmy, my Mom, and my mother-in-law all take the day off to come in to Boston with me for it.  Now looking back, it was the smartest decision I ever made, having them all there, with Lily and I.  Some greater power must have told me that I would need strength that day, and people to literally hold me up. 


I vaguely remember the seizure now.  All I really remember is the feeling of being panicked.  That literally everything else around me stopped and all I could see was Lily.  I don't remember the doctor who came running out of his office.  I do remember putting Lily down in the carriage, per the doctor's orders, as we took her to the ER.  I remember getting into the elevator and going legless, almost fall down legless, and I remember Kellie (my mother in law) grabbing me by the arm and telling me to "Pull it together right now."  It was exactly what I needed to hear.  I could feel my heart pounding out of my chest.  Why the hell was my 6 month old having a seizure?  I knew she didn't have a fever so it wasn't from that.  Was she epileptic?  Did she have some other seizure disorder? Or could if even be something worse?  I remember just spitting out her birth information over and over.  "3 lbs 5 oz, 16 in, NICU for 12 days; Couldn't maintain body temperature, jaundice, 6 weeks early."  Over and over again I said it to anyone that would listen.  They had to help my baby.


As I saw the doctors flood the room, one after another, IVs being inserted, blood sugars taken, blood being drawn; I thought to myself, "Why Lily?", "Why me?"  It would take some time, but soon I would know why it was us.  Why it was our team being chosen for this.


"Hyperinsulinism is when you can't maintain blood sugars.  We have 2 different medicines that we will give to her, and see which one works better.  You all should be home in 2 or 3 days." How wrong they were.  They started the first med right away.  It was called Diazoxide, and it would work to block the release of insulin.  By doing that, her block sugars should go down.  It was going to be a home run and we would be home in a couple of days.  Well, actually no, it was a major fail.  It didn't work at all.  "No problem," I was told, on to the Octreotide.  Octreotide is an injection that she would receive up to 4 times a day.  It works by decreasing the amount of insulin being secreted. Well quickly, we were up to 4 shots a day and at the hospital for well over a week at this point.  The Octreotide wasn't working.  Nothing was working.  Her blood sugars were still going dangerously low every time the doctors tried to turn off her IV sugar. Then, we heard about CHOP.


Children's Hospital of Philadelphia (CHOP) had the leading hyperinsulinism treatment in the country.  They could help Lily, and perform all the tests needed to determine if she needed surgery to cure her problem.  So the waiting game began.  We had been at the hospital for 2 weeks by the time CHOP was introduced.  Obviously, like any mother, I never left her side.  I wouldn't go to get food unless she was sleeping.  I didn't want anyone else to be sitting with my baby.  I didn't want anyone else to see her get her shots, or try to feed her, or anything else.  I was her Mommy and I wasn't going to miss anything.  A week went by after we heard about CHOP.  Lily was on MassHealth at the time and they didn't want to pay for her to go to CHOP because they didn't pay for out of state treatment.  4 weeks went by... Jimmy was still going to work daily, we needed money to still survive.  He was able to start the process to get her on his Harvard Pilgrim Insurance; but it was taking more time.  By 5 weeks of sitting in the hospital, her doctors had a proposal for me.  "MGH has a PET Scan machine.  We can take her over to MGH, and do the specialized scan.  We have a great pedi Endocrinology surgeon.  Though he was never done the surgery before, he is very capable."  And my response "No way!" and I cried for the first time during this entire ordeal.  I cried for Lily, I cried for me, I cried for this life of hers that was going to be nothing what I imagined it to be.  This surgery they wanted to perform on Lily for the first time, was removing 95% of her pancreas.  For those of you who are unfamiliar with what the pancreas does, well it does everything.  It helps with digestion, hormones, enzymes, tons of major body functions.  I am sorry but they could go find someone else's kid to be the guinea pig because it sure as hell wasn't going to be my kid.


Her doctors were amazingly understanding of my position.  They knew I had been so patient with this entire process and that we just wanted the best possible care for Lily. They went back, met with the Chief of Endocrinology (who was also coming to see us daily) and came back to tell me that they were doing everything in their power to get us to CHOP.  Dr. Dedeikian told me that he would pay for a cab himself to get us there and come with us to maintain her IV if he had to!  But a week later, we got the word, we were going to CHOP and the ambulance that would take us there would be there the next day.  FINALLY! 6 weeks in to our ordeal we were hopefully going to get answers.  6 weeks of Jimmy sleeping on a cot, and me cuddled up in the crib with Lily and we were finally going to get some answers.  Thank God!


So Jimmy hopped in to the ambulance with Lily, who was still getting Octreotide shots, in some hopes that they would miraculously start working.  He bravely gave her the shots she needed on the 8 hour drive down as the paramedics didn't have that med on their approved list.  I drove behind them (I needed a break! and I get terribly car sick!) and soon we were arriving.  Jimmy was staying at the Ronald McDonald house in a not so hot part of town, because only one parent was allowed to stay at the hospital.  I learned strength through him over the next few weeks.  We met Dr. Stanely (the hyperinsulinism guru) and his team and were reassured that we wouldn't go home without answers.  In order to understand her treatment, you have to know about hyperinsulinism or better known in the medical community as "HI."  HI can come in 2 forms, there is focal HI or diffuse HI.  In Focal HI, only a small, focal area of the pancreas is affected. The remainder of the beta cells in the pancreas are normal.  So basically, one part of the pancreas is making this whole blood sugar mess.  In diffuse HI, the entire pancreas is affected.  So CHOP did this special scan where they injected a dye, put Lily under  anesthesia and examine her pancreas.  If she had focal HI it would show just one part of the pancreas lit up on the screen.  Diffuse HI came back looking the same as a regular pancreas as it wasn't detected on the scan.  So what do you know, a normal PET Scan came back.  The next step was to do genetic testing as Dr. Stanely has figured out what genes are linked to the 2 different types of HI.  Well her HI genetic testing came back normal as well.  So what was affecting Lily's blood sugars so badly?


The next step was to send off a 21 genome chip to test for CDG.  CDG is an awful disease with an extremely high mortality rate.  So for a week, Jimmy and I sat there, wondering, waiting, praying, that she did not have CDG.  And thank God she didn't, but she did have Turner's Syndrome.  When I heard it was Turner's Syndrome, I was kind of relieved.  When you spend a week of your life researching CDG, which is basically a death sentence, and you hear it's Turner's Syndrome, anyone would understand my relief.  And better yet, there had been one case study done in the world that linked Turner's Syndrome to HI.  So now the question came; Did we want to operate or continue to medically manage her with a feeding tube and medicine?


NO BRAINER!  The surgery for HI to remove most of the pancreas leaves almost all the kids with diabetes.  Diabetes is such a serious disease, and some kids did grow out of hyperinsulinism.  We chose the feeding tube and medicine and it worked!  She could maintain her blood sugars if we made sure she ate at least every 4 hours during the day.  At night she was hooked up to a feeding pump and continuously fed formula through her feeding tube.  It was scary at first but became second nature to us and our families after a while.


During this time, I realized how important family was.  As bad as I wanted Lily to go to CHOP, I knew I was going to be so far away from our families who had been there every day. They were constantly coming to see us, bringing us food, clothes, anything we needed and now we were going to be 8 hours away.  I didn't know if I could do it without my Mom there every day, but we managed.  My mom and Nana made the road trip down to see us, and Jimmy's mom and brother came right after, then as soon as they left my Dad and Sue came, and even my cousin.  We were truly blessed to have so many people who loved Lily and loved us too.  They held me up at my darkest hour and told me that everything would be okay.  Things like this really put life into perspective.  I was taught to enjoy every moment with Lily, because for a time, we didn't know if she would be ours forever.  I look back at this time and realized that is when I got strong.  I had to be strong; strong for Lily, and strong for our families.  They were 8 hours away and loved Lily just as much as we did.  They needed to hear that WE all were doing well, because they wanted to be there for every single second, but they couldn't. When our Moms came down, we actually got to go out to dinner for a night and relax.  The only people in the world I would have trusted her with at the time were our parents.  My Dad and Sue came down and surprised us.  They came in just as my Mom had left, and I was missing her.  They came at the perfect time.

Moral of the story:  Life is short, life is fragile, and life goes by too fast.  As I sit here now its been 4 years since our ordeal.  Lily is off all meds and has her g-tube (feeding tube) out.  She is thriving and loving life.  I know that we were chosen for this as a team.  He chose Lily because it really does take a strong personality to go through this.  Her personality makes her 10 feet tall, and her smile is contagious.  She is my hero. It truly does take a village to raise a child, especially one with special circumstances, and I thank God every day for all of our amazing family members.  Whether it is helping getting Lily off the bus, coming to yet another appointment, spending insane amounts of money on gluten free food so Lily has something to eat at their house, or just watching the kids so Jimmy and I can have a night off, they are all AMAZING.  Some days are harder than others.  She came home from school the other day and said "So and so wouldn't let me in to the kitchen center at school today because she said I looked like a baby," and I asked her, "Well what did you do Lily," and she told me that she told the girl "I have a baby brother, I'm not a baby, I am a BIG sister."  With that personality and that spunk, anything she dreams WILL be possible.

Gluten Free Lifestyle

Wow! This gluten free stuff is no joke!  When Dr. Ngo (Lily's GI specialist) first informed me about her potentially having Celiacs Disease, I thought, "How hard can this really be?" Welllllllll, it is a lot harder than I imagined.  Lily's typical diet before she was diagnosed went something like this:
Breakfast: toast with butter and some juice
Snack: goldfish and granola bar
Lunch: Perdue chicken nuggets and french fries/turkey and cheese sandwich/Lunchables sub
Snack: Oreos (her absolute favorite!)
Dinner: whatever mama's cooking that night! usually involves a pasta side or some sort of starch.
GLUTEN CENTRAL!  That menu is full of gluten and now she can't have hardly any of it.  I went grocery shopping on Friday and realized how expensive all of the gluten free food is.  I spent almost double what I usually do.  For example, a small box of gluten free flour ran be $7.49! I have tried to do my best for now until we can get to the nutritionist and have come up with a menu something like this:
Breakfast: hard boiled egg and milk
Snack: Welch's gluten free fruit snacks and juice
Lunch: hot dog with french fries
Snack: pirates booty and banana
Dinner: (Last night's at least) corn tortilla with cheese quesadilla, rice and corn.
Her menu sucks, to put it lightly.  Gluten free food seems so bland and not fun! I am hopefully going to meet up with a friend from my Nursing class who is gluten free (as is her son) and learn some more about cooking for Lily.  
She had a bit of a breakdown yesterday when I told her that she couldn't have Oreos.  She didn't understand really why.  I try to explain to her that she has Celiac and that she can't have gluten anymore.  I told her gluten is in a lot of the food she eats and it can give her a bad belly ache.  It's really hard for a 4 year old to understand.  The complications of eating the gluten is basically like poisoning her intestines.  They become inflamed and the villi (small hairs in the intestine) have a reaction. I was able to see the pictures of her intestine from her biopsy and they are clearly "puffy" as best I can describe them.
The endoscopy itself went amazing. We got there at 7am and after her vitals were taken we were immediately met by a Child Life Specialist.  For those of you unfamiliar with hospital life, Child Life Specialists are Godsends.  They are basically the fun time people.  I think they are child psych degree holders and they meet with the children before stressful times and during hospital stays to try to explain things better than I ever could, and to ease some of the stress that your child may be feeling.  During Lily's 8 weeks stay at CHB the child life specialist on her floor checked in daily and brought age appropriate activities for Lily to enjoy.  Back to the endoscopy; So the child life specialists can back into the pre-op room with us at Tuft's and gave Lily a Dora game to play with.  She then let Lily decorate her gas mask and handle it and become familiar with it so when it was time for the anesthesia she wasn't nervous about the mask being put over her face.  She also let Lily decorate a pillow case with fabric markers and got a portable DVD player, with Dora on it, set up that came right in to the OR with us.  She also took Lily on a tour of the PACU and let her peek inside of the treasure box that she could take a toy out of when the procedure was over.  After talking with the doctors, Lily was rolled in to the OR on my lap on the gurney.  We sat together in the OR as she was given the Nitrous Oxide (laughing gas) first, and had the silliest look on her face, and then she was given the general anesthesia and put out.  Jimmy and I anxiously waited in the waiting room (which had this cool monitor where everyone was assigned a patient number and we could watch how far along she was in her procedure and when she was being brought to the PACU). The endoscopy took place then.  An endoscopy is when they take a tiny camera and go down through her mouth into her stomach and duodenum (small intestine) and they took small cuts of the stomach and intestine to biopsy.  They also did a pancreas stimulation test (because she does have such a complex issue with her pancreas) where they put some medicine in Lily's IV to stimulate the pancreas to secrete enzymes which were then taken to pathology.  She was intubated (put on a ventilator) during this procedure.  We were immediately brought to the PACU as soon as she was done.  She woke up really miserable from the anesthesia.  She didn't complain of a sore throat (which I thought she would) but complained of everything else.  She hated the IV in her arm. She didn't want to drink.  She was just all around miserable, and I can't say I blamed her.  She got to watch some of a Barbie movie, and we sat there while she was given fluids until she finally agreed to drink a little bit.  She took a toy out of the toy chest (they had some good stuff in there! She got a mini laptop!) We took her home and she was was pretty grouchy for the next 24 hours, but then was back to her bubbly self! 
She made me so proud that day.  She is such a tiny little girl and is constantly undergoing tests.  It is sad when I can honestly say that I wasn't even too nervous about this procedure.  Most Moms would freak out thinking that their little baby has to go through this, and trust me I wasn't a calm cucumber, but I wasn't feeling wicked scared.  I knew that she had gone through more invasive procedures and I know she did great with those.  I guess I am just as used to all of this as she is.  It is really sad however when you tell your child you are going to Boston, and she thinks that "Boston" is a doctor's office.  She has no idea what else is there, but the doctors, and trust me we have been to every museum and child activity Boston has to offer.  
So gluten free is going well over all.  Any pointers out there anyone? I would love to know how other preschoolers handle this and how it goes at school.  I sent in letters and information to Lily's teachers and the school nurse today.  I tried to stress the importance of not even having a little gluten, and not even TOUCHING gluten or anything that has touched gluten.  I know, nearly impossible in preschool, but worth a try!

                                                     Endoscopy Day

Get to know Lily

These last 2 posts have just been some of what Lily has gone through.  I can't even tell you how many doctor's appointments, tests, hospital stays, pokes, prods, doctors, nurses, and sleepless nights she has endured.  In order to get a good picture of my Lily, I need to tell you some more about her.
She didn't sit up until she was 10 months old, didn't walk until she was 17 months, but that girl has talked since 6 months old and I don't think she has stopped!  She has a personality bigger than any doctor's office she has ever had to sit in.  She has her own opinions and believe me she will let you know them.  She is sweet and kind and is the first to share with her baby brother.  She loves to make friends, and once she makes a new friend, it is all we hear about at home for the next week.  She loves to dance, but mainly just loves everyone to cheer her on while she dances.  She is a typical 4 year old and hates to be told no!  She is our pride and our joy and I couldn't be more proud of how far she comes, and what a fighter she has had to be since her first day on Earth.  She is amazing and my hope for this blog is that some one begins to understand that when you see someone who has special needs, spend more time with them, explain it slower and more clearly, and love them, because they are no different than you.  Every mile stone she meets is that much greater, every time she does something we are told she would never be able to do, (like come off all of her medicine) it's such a greater fete.  They have feelings too and they hurt like you do, but most importantly, a child with special needs can bring more joy to a family than ever imagined. 

Turner's Syndrome

I remember learning about Turner's Syndrome.  I was sitting in psychology class just a few months earlier, when it was mentioned as a genetic mutation.  I remember thinking, "Hmmm so are they girls?"
To know Turner's Syndrome, you first have to know a little bit about genetics, very simple stuff.  Men's sex genes are XY, and women's sex genes are XX.  Our genes that determine much of everything about us are carried on these genes.  A girl with regular Turner's Syndrome has what is known as XO.  She has one X gene and that is all.  Lily, has mosaic Turner's Syndrome, so that means she has one full good X gene and one X gene with some genes, just not all on it.  
What does Turner's Syndrome mean?  It means a few things.  Lily will be shorter than everyone else.  The average height of girl's with Turner's is 4'7".  She was on growth hormone shots daily for a while, and once we get her new doctor figured out, she will go back on them again.  They hope to get her closer to 4'11", 5' with these shots.  Some girl's with Turner's have a variety of heart problems and conjoined kidneys in the shape of a horseshoe.  I thank God every day that she has neither of those, however we do go to a cardiologist once every 2 years to get an ECHO and EKG to make sure that her heart is still looking good.  She also has problems with logical thinking, like puzzles, and other learning disabilities.  While most kids in Lily's class can identify and write all of their letters, I just got Lily to write her name, and she can only identify 16 of the 26 letters in the alphabet.  She is in a Special Ed program now, and seems to be doing ok.  She is behind her peers, but I am very proud of how far she has come.  The saddest part to me, is that she won't be able to conceive her own children.  Sometimes, girls with Turner's can have in-vitro, it is going to depend on a few different circumstances.
On Monday January 3, 2011, she went in for her latest test, an endoscopy, and it has been confirmed that she has Celiac's Disease.  Celiac's disease is a gluten intolerance, so all gluten (wheat, barley, rye) has to be removed from her diet. It's just another step.

Lily's Story

Where to start really?  I would like to try to tell Lily's story the best way I can.  I want to keep a blog with all of her medical information to brighten anyone's eyes who read this about children with disabilities, especially my child, Lily.  The best way to understand Lily is for me to start her story from the beginning.
I had just turned 20 years old when I found out I was pregnant with Lily.  To say she was our surprise baby is to put it lightly!  The pregnancy I had was stressful to say the least.  Her Dad, my boyfriend at the time (now husband) and I had a lot on our plates with money issues, jobs, me finishing college (I was a SPED major at the time) and the fear of having a little child to be responsible for!  The night of Thursday, July 6, 2006 I was 7 1/2 months pregnant with Lily, and woke up with chest pains so bad I thought I was having a heart attack.  I immediately called my midwife who at the time was going to deliver her.  She treated me like a child, and told me to take a bath and go to bed and that it was heart burn and I would be fine.  Any expecting mother in her 7th month can tell you straight away what heart burn is like, and I knew it was not heart burn.  So against my doctor's advice Jimmy (Lily's Dad) took me straight to the hospital.  They gave me some morphine for the pain, and an ultrasound.  The midwife told me, "The baby looks small," and at the time, I was too naive to really understand the repercussions of that statement.  She also told me that I had had a gallbladder attack and to go home on bed-rest until Monday and eat a "high calorie, low fat diet." IMPOSSIBLE!  So the following Monday, July 10th 2006, I went back to South Shore Hospital for a non-stress test.  This is a test done to monitor the baby's heart beat and see how they respond.  Well my peanut failed the test miserably.  She was not happy in there!  I was given a shot of surfactant, a medicine used to help develop the baby's lungs, and admitted in to the hospital.  I knew something was wrong, I could feel it within my body, I just didn't know what.
So, the stay was pretty uneventful, and I was told Wednesday night that I would go home Thursday morning and stay on bed-rest until my due date, which was August 24.  Thursday morning however, I woke up with SEVERE chest pains again, this time it was accompanied by a throbbing headache in the back of my head.  My blood pressure at the time was through the roof, and I was given bolus after bolus of Magnesium (a medicine that is given to lower blood pressure, as high blood pressure causes seizures) and started on Pitosin (a medicine given to induce labor).  The doctor's told me that I had pre-eclampsia and the only way to cure it is so deliver the baby.  For those of you unfamiliar with pre-eclampsia, it is a medical condition in which pregnant mothers are basically poisoned by the baby's placenta, the only cure is delivery of the baby.  After trying the Pitosin for 5 hours, my liver enzymes started to go all out of whack, and my liver was then shutting down.  Delivery had to be done now, and it had to be done by emergency c-section.
On Thursday, July 13, 2006 at 3:04 PM, I gave birth to Lily Gallagher Bowen who was a whopping 3 pounds 5 ounces and 16 inches long.  She was here, she was breathing on her own and doing fabulous!  She was taken to the NICU where she would have to learn to maintain her body temperature and to cure her jaundice.  She was beautiful and the minute I saw her my heart completely melted and I knew I was born to be a Mommy.  My baby was going to be fine.... or so we thought.

She stayed in the NICU and Special Care Nursery for 12 days and then came home.  Jimmy and I started learning how to take care of Lily, with the help of our super supportive families. She was THE fussiest baby I had ever seen.  I cried most nights after hours and hours of trying to get her to stop screaming and just sleep.  How could something so little cause so much chaos? I told her pediatrician about it, I got the standard "colicky baby" response and we switched her formula to no avail.  Her pediatrician did notice however that her head was slightly flat in the back and wanted her to go to Children's Hospital Boston for a neurology consult to see if they thought she may need a  baby helmet to reshape her head.
On January 18, 2007, 6 month old Lily, Jimmy, my mother, Kelly, and Jimmy's mother, Kellie, were all sitting in the waiting room of the neurology room.  Lily, who had wonderful head control, suddenly lost all control and her head started flopping.  I picked it back up, and it flopped again.  Kellie, who was a nurse saw me, ran to find a doctor, yelling "She is having a seizure! She is having a seizure!"  A neurologist came out from one of his office, called a code, and immediately took us down to the ER.  I knew for sure that day that there was a God and that he was watching me and Lily.  What are the chances that we would be in the best children's hospital in the country when Lily had her seizure?  We were rushed to the ER where all the doctor's around were trying to evaluate her.  They took her blood sugar after feeding her sugar water and realized it was at 43.  Normal blood sugars are 70-100, so 42 is quite low.  We sat at CHB for days, as the doctor's came up with the diagnosis of hyperinsulinism.  Hyperinsulinism is basically the opposite of diabetes.  Lily's blood sugars were constantly low and she could not keep them up.  Her pancreas was secreting too much insulin (used to lower blood sugar after eating) and was constantly secreting it.  She was maintained on a high sugar IV concentrate and 2 different kinds of medicines were given to her to try to keep her pancreas from secreting all that insulin.  CHB just didn't have the technology needed to treat Lily.  After 8 weeks at CHB, we were transferred by ambulance to Children's Hospital of Philadelphia.  They had the leading endocrinologists in the field of hyperinsulinism.  But of course, Lily was able to boggle them as well.  Her genetic testing came back normal, her PET Scan didn't show hyperinsulinism, but it didn't not show it either. We had a choice; remove 95% of her pancreas and give her a very high chance of being diabetic, or trying to feed her by a feeding tube overnight so that she would never have to go long periods without fasting.  We chose the feeding tube and the medicine that seemed to slightly help. We could go home, but there was a catch. They had sent off what is known as a "21 genome chip."  This chip tests for 21 different genetic disorders.  And to much surprise to everyone, Turner's Syndrome came back.