Turner Syndrome Awareness Month ....It's her thing...

February is Turner Syndrome Awareness Month.....as most of you know I am not a huge advocate or one who stumps for causes but I need to tell Kelsey's story to as many people as I can as it has made a huge difference in her life to have answers to questions that have plagued her since birth. If you go back to the beginning of this blog you can read about how I found out that Kelsey had Turners and the journey that she and I have had to get us here a few years later,.....we are still struggling....I will never say life is easy ....I do not think it ever will be for her or me but we will always make the best of what we have and let me tell you she lives it to the fullest every day....All it took was one question of why is she so small and it took off....

It has been awhile since I updated all of you so here it is....she is not doing great in the height and weight department ....so endo gave me an ultimatum .....gain and grow or change something....

From October to March Kelsey plays 2 sports....gymnastics and hockey...both very active and strenuous sports and this is what we have figured out are causing her weight loss as she is on the ice 2 days a week and in the gym 6 hrs a week. So we have cut back her conditioning at the gym and no extra skating as she can't burn the extra calories. I am giving her all the extra snacks and meals I can fit in ....but she is also going through another period of lack of hunger (thank you ADHD meds) but she will snack so I just keep giving her high calorie food and pray for the best....

School continues to be a struggle to....although she loves it and tries so hard she is just not keeping up with the work. Multiplication is a bit easier for her and she is getting it better than adding and subtracting but anything with reading is still a sticking point. Looking into testing again as there has to be more to the story than just ADHD.....there always is....

Last Saturday she had a hockey game and scored 3 goals in the game and stick handling and skating is second nature "she was in her zone" and was thrilled with herself and from there went to her first gymnastics meet and struggled as it showed that her memory is affected as she has to recite the routines as she does them and no matter how much she loves the sport its not "her sport" ...she took 6th place on vault .... Just last weekend we were watching the Gabby Douglas Story on TV and she turns to me and says "mom I am going to play in the Olympics....but not in gymnastics..that's Kianna's thing.....I am going to play hockey....." And you know what I think she is right....she will do whatever she puts her mind to ....she has so much heart and determination....

So this is the year I am going to let her follow her dreams...she wants to try out for travel hockey......so I am going to let her....we talked about it and it may mean coming out of the gym for awhile as travel hockey is very time consuming but she is dedicated...

So no matter what Turner's or life for that matter is throwing her way she is going to tackle it and go full force ...with me by her side.....and it's her thing.....

Little news.....

Little news....she grew 1/4 of an inch ...but she lost weight! So back to trying to fatten her up!

So since we last met a few things have happened....school ended....uneventfully....she is going on to 3rd grade...she is struggling but as usual I am pushing for her and will always make sure that she has all the accommodations and supports that she needs. I think I am glad that this year is done. Not super impressed with her teacher...I think I just had such superstars for the first two years that when I got one that didn't shine so bright ..or go so far for her I was jaded....I guess I want everyone to go the extra mile for her and I have to remember that is not the norm and maybe this teacher was the norm...

She is training in the gym 2 days a week with the "Hotshots" pre team for gymnastics.....her second love..let me tell you this child has developed muscles on her muscles!  She is loving learning her routines. She loves her coaches and when she gets to work out with "the big girls" (the team girls ) she is in heaven!!!!  She seems to have a talent...if anything she is strong and determined but we knew that !!!! (Although she keeps asking when hockey starts!)

Her birthday was this past Tuesday...eight ...where did the time go....so I wrote a birthday post on Facebook as I do for each child on their birthday...here is Kelsey's ...

she came in feisty and determined as I guess someone had plans for her that we did not know about ...she came in to teach me what it meant to fight...for her.....with her.. and beside her...I have delighted to watch her unfold from a tiny infant who struggled to eat, grow and talk but had the... biggest eyes and an infectious smile, to a toddler with so much energy and hair I don't know what was bigger..lol...to a preschooler who pushed the limits and found her love of her sport...to a grade-schooler who despite her struggle comes out on top and loves everyone around her...she will do great things ...just you watch....
" Though she be but little, she is fierce!"-Shakespeare
So many liked and commented ..the love that this child carries amazes me.....so although we have little news ...she is continues to make progress....every little bit is big in my book!

 

 

Poptarts and Oreos are good for you...lol !!!!

Well I am not going to apologize for not posting in ages ...there has been little to post as I have been working hard on getting Kelsey to gain weight. I have been letting her have so many things that I have usually never let her have.....oreos (in her lunch everyday!) poptarts, pringles, skittles, extra helpings of dinner, extra snacks, and I found a protein bar that she can eat that she will eat! So for the past 3 month I have been stuffing her with "junk food" ..which kills me to do as she is my better eater who likes fruit as dessert and eats just a healthier diet than most kids her age. She had to have some blood work done so unless there is something funky with her thyroid she should be in the clear.

So.....drum roll please......... she gained 2 3/4 lbs ..close enough to 3 lbs to make the Dr happy and enough to kick start her growth again....a whopping INCH!!! She is now 46" tall and 52 lbs.....She may make it out of the booster seat by prom !!!!

Her health is stable for now. She had her ear tubes out in February. ENT has decided that she has grown enough that she doesn't need them. So out they came...only complication was a bleed and some vomiting from the anesthesia.  He repaired the hole in her ear, removed the tubes and cleared out all the scar tissue from all the surgeries. In early March we went in for hearing tests and ....HER HEARING IS NORMAL!!! For the first time in her life she can ignore me like a normal kid! I am never so happy to yell at her for not listening to me ....because SHE CAN!!!!

School is as usual a struggle... we added a few more things to her 504....as I finally got her OT eval results and it did not add anything that was conclusive. I asked for less problems on the paperwork and tests..more time on tests and if needed during classwork(which she already had but was not being followed for stupid reasons and causing anxiety for Kelsey) ....she is still decoding site words and struggling to read fluently but she plugs along and is proud of the accomplishments she does make and I celebrate each one.  She recently brought home a math test with 20 problems (which is against her 504 ...which is another issue recently addressed...ugh...) but was very proud that she got them all done and only got one wrong...which once I looked at it wasn't ,....the number was written backwards...but still and incorrect answer...

Kelsey just finished her first season as a Mite in hockey...she had a great season with two of the best coaches I could have asked for.  She scored quite a few goals this season and really enjoyed the season. She has really improved in her skating and stick handling. If only she would stop singing and dancing on the ice during games......

She is now on to gymnastics twice a week as a Hotshot at the gym. She is getting stronger every week....and is so muscular....one of the moms saw her in her leo the other day and commented on how "cut" she was....she really is and its just her body type....but it is funny to see her sitting next to the little girls at the gym and they are still "little" girl body types and then there is Kelsey .......


Well that is all for now...I hope that you have been caught up in what has happened in the last few months...I try to keep little updates on Facebook and save the drama for here...so I am sure that I will talk to you all soon....

And just remember......Poptarts and Oreos do good.....for Kelsey!!!!

 

It's A New Year!

Well I succeeded in missing not only the Fall but the holidays too...sorry friends..but life has gotten away from me.

We have not had a whole lot of good news so maybe that is why I been so quiet.

Kelsey's last appointment was wrought with issues....no growth...weight loss...a question of her heart having some "stress issues"...a new rash/vitaligo spots...if her meds are working ....and then there was school...

So we tackled the easiest first....the rash...her awesome dermatologist had no clue what it was ..cultured it (which included scraping her skin....poor kid..) and it was some type of fungus that had turned into a vitaligo spot so gave her some creams and poof 3 weeks later all better ...well except for the white spots on her chest!

Next feed her more...she has to gain 3 pounds in 3 months to kick start her growth again.....OK...most fattening things that the poor PA suggests I say "nope she is allergic :) " so Kelsey is eating Peanut Butter Crackers and Chocolate Soy milk before bed most nights. ...Oh and trips to 5 Guys with Grandpa!!!

This month we go to cardiology to check the stress on her heart...that was an issue that I had no clue and the endo said that it was nothing to be to concerned about...just get it checked out....if they didn't call you about it after the last echo then it was nothing to worry about......heart=worry to me .....

and school.....she is plugging along....reading her report card requires a PHd but that I have said before....I still feel like she is very far behind the rest of the 2nd graders and I will fight to keep her where she belongs...

So here  are the highlights...she skated on the P-Bruins ice right before Christmas and thought that it was "a miracle" her word exactly!!! She is getting stronger everyday she skates and is becoming quite the gymnast too...she is writing stories all the time for me and loves to read them to me!

When I have more updates I will let you all know until then ....a New Year.....looking for more pounds and more inches for her!!!!

How Does The Entire Summer Go By and I Missed It?

Just as the title of this post suggests...where did the summer go?  The girls were busy...Kianna was at camp and gymnastics ...Kelsey was .......

BUSY GROWING!!!!!

Yesterday she had her 3 month visit to endocrinologist and she grew another INCH!!!! So that is what she has been busy doing....so much for the adhd med slowing that down lol!!! She has grown a total of 3 and 1/2 inches in the 1 year that we have been giving her the growth hormones!!!

Now I think the crisis of changing insurance and the medical paperwork and medicine changes and all the phone calls to pharmacies and doctors and finally to the insurance companies themselves is what blew my summer away!!! (actually it is what blew the month of August away)

August was  the month of drug trials.....or drug fails for Kelsey. One insurance company covered the adhd med that worked wonderfully for her....no side effects and she was happy.  Change insurance and it is no longer covered so they gave her a "comparable" med....yeah it did nothing but keep her up till midnight every night!!!! So call pediatrician and find out that we can get a prior authorization for the old medication but she has to have a failure on 2 of their approved medicationsbefore they will approve the old medication. So one to another med...which changed my child into Linda Blair...I was waiting for pea soup to spit out her mouth!!! The suggestion...up her dose..so we did and it was the worse 10 days of our lives ...well I am exaggerating just a bit but you get the point....she was miserable...I was miserable.....I wanted to bring her to the insurance company's office and let her sit in their office all day and see what it was like!

Finally it was over and she got her approval and she is back on the original med and all is well...back on the omitrope for gh and she is ready to start 2nd grade!

She has one of the 2 teachers I wanted her to have ...although she is not with the bulk of her friends...including her best friend....I know I posted before about the importance of these friends and I hope that they will still stand by her even thought they are not in the same class. I will now have to work a little harder to foster her friendships but it is worth it in the end. 

Here is hoping that I can say where did the fall go.....as it means that all is well and my girls and my life is busy and happy .....time files when you are having fun!

Onward.....and upward :)

Well the GH switch was successful!!! Kelsey grew another 3/4 of an inch and gained 2 pounds in 3 months. She is happy with not having to get shots in her belly anymore....when you can't pinch an inch it hurts to get stuck there... I knew she had grown as she is finally out of toddler sizes!!!!! I can pass her 3 t's down to my niece!!!(who is 2 lol) Kelsey will be 7 in July and is finally in a 5!!!!! (ok so some of them are 5t but hey they are babyGap...I am not passing those up!)
There have been many other changes for Kels....a dx of ADHD (duh..I have been saying this since she was 2!!!!) and we have begun a med trial with her and hope to see positive changes for her.  I am praying for a miracle but not holding my breath.
She has also been referred for an OT evaluation for visual-spacial LD ....I am waiting as usual with the Neurodevelopment Center to get on it and get her an appointment but since it took a year to get the first evaluation and 10 weeks to get the feedback appointment...I do not hold out hope that they move at more than a snails pace. I don't think they like me very much as I called every month till they gave her an appointment and then after I called weekly till someone got back to me about feedback.....then they left me sitting there for 45 minutes till they met with me....for 20 minutes....but they told me NOTHING that I did not know about Kelsey except confirm what I always knew and gave me the piece of paper to get the ball rolling to try other things (meds) and the power to get her the IEP when she needs it....,now I will call them to get the appointment for the OT before school starts in September so that she can get what she needs!!!!
I AM MOMMY HEAR ME ROAR!!!!  HEEHEE!!!!

I am not fighting for her IEP just yet...I am going to see where she is placed for September...Miss Apple says I will be VERY happy...I am going to tell the Princess (principal) that I want her 504 kept fully intact and we will revisit in October with the new teacher once she knows Kelsey (and I have established a relationship with this teacher and have her firmly ensconced on my side) I am not letting her be placed in the collaborative yet....I just do not see it as a place for Kelsey at this time. She does well with good, positive behavior models and if that is the majority then she will model that...if poor, negative behavior is the majority then that is what she will model.......monkey see...monkey do :-)  She still hasn't made the 220 wall but she is trying and every day we try those damn flash cards and I am praying for one more chance.....but she is reading at a level 8 (whatever that means) ...and now I know why her spelling, math and writing is so damn atrocious (v/s ld) but she WILL over come this too....she is too strong and determined not too.

It was a year ago that we started on this journey .....with a simple trip to the dermatologist ...and one simple question...has she always been this small? She is getting bigger with every day...onward and in this case UPWARD!!!!

INSURANCE.....

Well I guess the good news is that Kelsey grew again....another 3/4 of an inch....she has made almost 2" in the past 6 months. I am so happy (as is Kelsey!!!)  Its the little things...she can reach the door handle on the back door of GAP's car....she can turn the bathroom light on by herself.....without jumping!!!....she can sit in the regular booster seat in car...(but I haven't told her that yet....)

The bad news.....the girls got new insurance and that means a med change for Kelsey.....bye bye Omnitrope hello Neutropin AQ....not to thrilled as this is the med that I have heard has more side effects than others....but we will push forward....
Now the old meds used to come in a cooler and be left off in the breezeway of the house no problem.....this company someone has to be home to sign for them and REFRIGERATE IMMEDIATELY!!!
Really....so now I have to give her an address of some one who will be home to get this all day....so I give her my dad and hope to god he will be home.  (which after a few phone calls we figured that he could do it this time and after this we can have it delivered to either my mom's office or Darryl's work) but now I need to see when it comes why it can't be delivered like it used to be.....complications!!!
So far no big changes other than the med change has resulted from the change in insurance but I hold my breath waiting for the other shoe to drop.....

February is Turner Syndrome Awareness Month

February is Turner Syndrome Awareness Month. 
I am not a huge activist for anything....I keep most of my views to myself...I do not engage in activism or march on anything....that is just not me. But I have friends that do and I am very proud of them for it. I will support them every way I can. So today I am going to take the plunge for myself....for Kelsey....

In the beginning of this blog I wrote about what Tuner Syndrome is and how it affects girls....so I will not bore you and repeat myself....you can go back and read the first posts...

But I will link a few awesome resources for you including a neat video...

Faces of TS Video by TSSUS

The Turners Syndrome Society ...which has everything you ever wanted to know about Turners....and more! http://www.turnersyndrome.org/

and another Turner Syndrome Mom's Blog ...go meet Sarah and her cutie pie Lily Sarah's blog

So that's it for this quick PSA....

up next.....my insurance saga........

A Balancing Act

Now another month has slipped away from me and I have left everyone hanging here for too long so for that I apologize. I am doing my best to keep it all together lately and I must admit I don't think I am doing a very good job at it...something has to suffer...what is the phrase "jack of all trades....master of none"

Report cards came out and let me tell you I think you need a PhD to decipher them. So I will go by the work that she brings home and the homework that we do together as a barometer of how she is doing.  The work she brings home is often incomplete and I know that she is struggling....but making progress as at least there is some work on the paper and it is in her writing. She is still working on her 220 sight words.....still no where near 220 but she plugs along trying her damnest to get them. We struggle to get the homework done each week....she is tired. She really has trouble with the work....I have to do it with her...no one else has the patients...sometimes it takes us a hour but we plug along....I am reading to her ....funny she takes books out of the library that are so far above her....she is running around with Tinkerbell Fairy series right now...its a damn chapter book...really people doesn't anyone encourage these kids to take out books they might actually have a chance at reading!!! 
She knows all her letter sounds and can put them together to make words she wants to write. She seems to be having success using the computer to write her work since I know penmanship is a huge issue for her.
Spelling tests have started and after one success, she is having failure after failure.....and that is making me feel like a failure....Plus we have added math fact tests!!! Oh joy! One more thing! At least she is trying to memorize them and can count on her fingers the facts.....as long as we don't go above 10 we are golden!

Then there is the social aspect....I worry about her.......does she have friends....do they like her....does anyone play with her...I ask her all the time...who did she sit with today for lunch....who did she play at recess with...its always the same couple of girls and a few boys but I am skeptical of all but 2 who I know are nice to her.  A friend said to me awhile ago that his daughter told him that "no one plays with Kelsey at school" ....it has stuck in my head ever since....I worry about my girl...I know that Turner's girls can have social issues....I just don't want that to be one of the hard parts of her life....she is so outgoing and loves everyone so much. It would crush her to think that the kids she talks about all the time don't like her. I know she is rough around the edges and just says what ever she is thinking but she is a good kid who just want to be friends with everyone. I don't know how to fix it....again I feel like a failure as a mom. It was easy when she was little her friends were my friends kids. School screws all that up...she has to find way herself....and when your child struggles with behavior that some find different or troubling or odd or annoying then it becomes a balancing act....

Okay...pity party for one is over....maybe I am not a failure for Kelsey....maybe it is just that a balancing act ....and I just have more balls in the air than others.....then again maybe less...........

And we have growth!!!!!

So yesterday Kelsey and I go to the endo for her 3 month check up. She gets her height and weight done...I can just see her itching to know if she grew but the medical assistant isn't giving anything up.....we are lead to the room and the med nurse comes in to see how the shots are going...to which I voice my concern about the amount that the pen drips. I guess that it is the "cheap" version (gee thanks medical insurance) but hey what are you going to do..we just give shots really really fast :-)  I am becoming a pro at attaching the needle, swiping her skin and jabbing her then getting the needle off ASAP!

So Dr comes in an is all SMILES ....actually ear to ear smiles....she is thrilled with Kelsey's progress...WE ARE ON THE CHART!!! WOOO HOOOO!!!! She is happy with everything...no changes in the medication and suggest that we get a consult for ADHD meds...well that's nothing new ...she is keeping a close eye on the vitiligo and the moles on Kelsey's skin and we go back in February!!!!

So Kelsey looks right at DR B and said in only the way Kelsey can..." So How much did I grow?"
Dr B looks right at her and says ..." a whole inch"
Kelsey...... "A WHOLE INCH"  (Hand about a foot and a half apart) WOW I AM AWESOME!!!(and yelling about as loudly as she can as excitedly as she can)
DR B....."Yes you are Kelsey....yes you are"  (mommy with tears in her eyes)
Dr B then tells me that the first year of growth hormone is when we usually see the most big gains and that she will slow down again....but I was just so glad to see her have a gain and that the shots are doing their thing.
Can you imagine what it would have been like to go home that night and have to try to convince her to get a shot if there had been no growth.....I am not sure I could have even given it to her....
but she stuck her leg out with a smile last night!

Changes......

Wow .....it's been over a month since I have been here...how did that happen...oh yeah I have 2 kids...a job ...and a crazy life!!!!! So here is what has been happening with Miss Kelsey since we last met....school has begun to challenge her.... she is hysterical over "tests".  Math "tests", Spelling "test", the 220 club, just about everything she encounters she feels like its a "test" but let me tell you she is figuring it out. Ms Apple is giving her spelling "tests" verbally...she can spell the words to Ms Apple and get credit for the ones she can spell correctly ....getting it on paper is just not going to happen right now. The math is done with the resource teacher so it attacked bit by bit and she is getting more number sense each day....but let me tell you her retention is still very poor. She gets very frustrated with me and I can only push her so far each day after school before she burns out.  Reading is coming along also...a few more sight words from her dolch list ...no where the 220 she need to be at but we have all year :-)

The biggest change was she had new ear tubes put in...out with the old non working ones and in with new (hopefully) working ones!!!!!
She and I  went to the ENT Center for the first time and it was wonderful! No trip to Hasbro this time! We had to be there at 7am and home by 9am! Dr said she had a tremendous amount of scar tissue in her right ear. He was able to repair some damage left behind by the last tube that had embedded itself in the ear canal and fit the tube in properly. She had a pretty bad bleed from the right ear about 2 hours after surgery. It was like nothing we had every experienced before. The blood was pouring our of her ear ....but after a bit of a frantic call to the ENT Center to the Dr ....ear drops and some gauze she was in the clear.

Hockey has begun and I forgot how much I love to watch my little girl play a game she loves. She is still learning the game and the skills but she is doing well.  She is a good little skater and if she can stop weld her stick like a tomahawk she will do just fine. (oh yeah and stop fighting with every kid who take the puck from her!)  She is on a squad that all the kids are at least 6-12" taller than her with one kid being at least 4'10....but Kelsey will hold her own ...she just has to skate faster and play harder....and I bet she is the only one who carries her own hockey bag ...even though its as big as she is!

So that is about all .....Kianna is well...got her braces off....looks beautiful....and loving all the foods that have been banned for the past 2 years. Gymnastics season is about to kick off...meet next weekend.....and we are just busy, busy, busy.... but each day I am taking time to be thankful as it is that time of year.....if we are facebook friends you will see...each day I will post from the serious to to silly ...what I am thankful for....
Stay tuned ...I promise not be away for so long this time  :-)

All is well.....so far.....

So we have made it through the first few weeks of school....through MDT meetings, a 504 plan and 2 Open Houses.....plus a ton of "extra stuff"....gymnastics is super busy...its almost hockey season....Kianna is doing show choir ...CCD has started....work is crazy....but.....

Let me say I love Mrs Apple....she really seems to get Kelsey. The first day of school was our MDT meeting (which was supposed to be the 3rd day of school but thanks to good old Tropical Storm Irene school did not exactly start on time). Mrs Apple says to me ...." Does Kelsey's Turner's make her have to go to the bathroom frequently? Me:  Ah no ...that is her defence mechanism....what did were you doing in the classroom? Mrs Apple: It was journal time ..but all I wanted them to do was color them..Me: ( thinkingg to myself .....Kelsey heard Journal and screwed out of there ) yeah she has a hard time with  journal writing...
Mrs Apple:  Ohhhhh....
And so the process of Kelsey's 504 began.....it ended on a good note....I got what I wanted which was her resource services intact ..... and Kelsey also has a plan for help with making sure she can reach things and has extra help and time to complete things as needed along with behavioral assistance and We will revisit after report cards come out and if she is failing she will get tested for IEP at my request. Homework has just started so that maybe an entire post ...stay tuned lol!!!

I am also working on getting Kelsey to sleep in her own bed all night...I AM EXHAUSTED!!!!! She wakes the entire house up...going from bed to bed...she doesn't like to be alone :-( is her excuse....I will get to the bottom of this but I need my sleep too......Then again why should this be anything new ...she has never slept through the night...NEVER !!!!!

Her shots are going very well. She is a pro! I am so proud of her. ....even when I stuck her the other night and bent the needle! I thought I broke it off but it was just bent....I am still learning but she is just the best about it all. She even lets Darryl do the one in her arms.

On another note....thank you all for the awesome support over the past weeks.....Dad is doing so much better.  My Dad had a hear attack on Friday 9/9 and as he has put it as only he can...he is glad to be on this side of the grass!  And we are VERY glad he is too!  He is doing very well...tired but learning a whole new way of life right now....the heart attack was one thing ...its the diabetes that is another right now. But he is up and  about and spending time with the girls and that's what he loves so we just keep going.
Talk to you all soon.....
PS.....Check my FB on 9/30 for a PSA about Turner's Syndrome and other growth related disorders!!!

Did I grow yet?!?!?! Just do it Mom!

Well a week of growth hormone shots and she is dying to know if she grew yet!!!! Too bad I don't have the heart to break it to her that they don't exactly work that fast :)  She thinks she has grown...so we are running with it!

Last Thursday Kelsey and I went to Dr B's office to meet with the awesome angel of a nurse that set up the whole enchilada for us.  We went in with her entire kit and I learned how to give Kelsey her shot. I was so nervous I was shaking (on the inside ....I was not going to let Kelsey see that I was scared) Kelsey sat on that exam table crying and whimpering but not the hysterical fits that I was envisioning taking place (that had taken place when she needed blood work done) M went over the kit and how to give the shot and we practiced on the "dummy" and then it was my turn and I was to give Kesley her first shot.

I went through the steps and with a shaky hand gave her a shot in the leg......her choice (leg, arm, belly or butt) ....and we put on a band aid...got hugs and she then tells me ...mommy that's not too bad!!!
I was so proud of her!  We wrap up with Dr B and Nurse M and get all the side effects I need to look for (none so far ) and pack up all our gear. On our way our Dr B asks if we would like to meet with another mom and daughter with TS that happen to be there for an appointment and after a little wait we meet. It was great to meet another family IN PERSON!!!! Now I have another mom with an older girl (11) who I can bounce questions off of and feel like I am not crazy.  (well that is debatable ..especially to the people who know and love me!!!)  So for the next few days we learn to give shots in the different spots (she hates her butt ...she says it hurts more...but she will take it because it will make her grow and wants to be big!)

Well then along comes Hurricane Irene!!!! I was damn near terrified that we would loose power and I would loose Kelsey's meds (which need to be refrigerated) and my wonderful neighbor stops by to tell me that the generator is gassed up and ready to go just plug in and it will be running as long was we need it .....love him!!!
To the point his daughter texts me Sunday night to see if we have power because her Dad (my neighbor) would not let her take generator if Kelsey needed it.....I really do need to make him some cookies :)

So Lets see Darryl has had shot lessons..and successfully gave her one and Nanny has watched once....Kianna is fascinated and I feel like a circus side show each night as everyone wants to watch. Kelsey is bearly even flinching! She may whimper or cry a bit but she want to grow so badly that she says "just do it!!"  and counts to 5!

So last night we drew a line on the door jam of her bedroom door.......8/30/11 Kelsey Ryleigh --------------

Let's see where the next one is.........

Big Events In the House

What a week it was.....Kelsey's kit came for her growth hormones....a visit to the ENT means another set of tubes ....the letter announcing who Kelsey's teacher will be and finally something  for Kianna...her braces are coming off!!! I think I have my week a bit discombobulated up there but it was a very busy week so I will break it down for you all....
First was Kianna braces....that poor girl has had those suckers on for the past 2 years ....4 front ones to get those pearly whites in place. Finally that last tooth is in place and they are ready to come off. Hopefully this is it and she will be done. I am ready to be done! :)
 Then it was there was THE LETTER....I began hearing from other moms(and dad) who their kiddos had gotten via Facebook and text message and I began to panic....I had not gotten my letter...did it mean that Kelsey got the one teacher I had beg and pleaded that she NOT get.....no it just meant that my mail man is slower than the rest of WW...lol  Kelsey got her letter and we are very pleased. She is with her some good friends (good mom friends too) and good teacher. I have already spoken to her and we seem to be on the same page. I  emailed her and on Saturday she called me and we spoke for a long time about Kelsey, her learning and her Turner's....Ms Apple (my name for her as I will call her for my blog) was very informed ...she let me know that after my email she looked up Turner's and looked into what educational issues Turner's girls have in the classroom...I thought that was really proactive and  I liked her right away..I think Ms Apple and I will get along just swimmingly...
Then there was the ENT.....he was too was not surprised when I told him Kelsey had a dx of Turner's...."well it makes sense"...this form the man who suggested that she was allergic to milk and helped me get a rx for soy when she was a baby for WIC as WIC said the one from the pediatrician wasn't enough...WTF..... So he looks in her ears and says "well these tubes aren't working" and proceeds to tell me that she should probably have another set (#6) and that we will see if there are no infections this year and she does well with the growth hormones that maybe this maybe the last set...but if her hearing is still dependant on the tubes (the tubes keep the fluid from building up) then its a no go and she keeps the tubes .....so its a waiting game...but big news none the less...
On to the KIT....
I come home from work on Friday and there is this HUGE box in front of my back door....Kelsey is all excited to see what is inside (way too many House Party boxes have come our way LOL). So we bring it in an open her up....a big black backpack....inside is a book, a board game, a foam microphone (right up her alley) a cute stuffed dog, a sharpes container, a container to store meds in the fridge and a bag to transport meds to keep them cold with ice packs....plus the pen and directions on how to use all this stuff...so as I am reading it all she is obsessing over the microphone and the book and the growth chart (shaped like a guitar) and the stuffed animal...then it hit her...ITS FOR HER SHOTS!!!!! (wait till the meds show up on Tuesday)...But that appointment isn't till Thursday....stay tuned......

So my education begins

I have always been a good student. I love to read. Well I am beginning to rethink that statement as I spent the first few weeks of Kelsey's dx reading, basically what Turner's Syndrome was all about, how it would affect her physically....as being short is what started it all :)  and into the growth hormones as that was a huge part of the last doctors appointment she had.  Then there was all the other appointments to keep us busy...cardiology....kidneys....dermatology (which sized and counted her moles...she was too cute pointing them out and count with the dr.) Then I began my networking and joining, reaching out, finding other moms with Turner's Girls, joining web groups and email rings and Facebook Groups, national foundations and societies, and finally writing this here blog.....but now I am taking on my biggest fight ..one I have been picking at bit by bit year after year ....Kelsey's learning.....
Kelsey has always struggled with learning....she just gets things differently than other kids do. She needs more time to process what is said to her, she needs to be shown concrete examples, she is very hands on in her learning and she can usually only do it one way until she firmly grasps the concept and then and only then maybe can you change it. My favorite story of when Kelsey was about 11 months and we were working on what sounds animals make...." Kelsey who says mooooo...." she would point to the cow...Point to the cow and ask her what it says and poor baby would just look at you.....
 When Kelsey was still in Early Intervention, there was question of executive functioning disorder...it all makes sense now....her sensory integration (which through therapy that I continued (thanks to an awesome OT who taught me what to do and gave me the tools to work with her)when the school department wouldn't because she wasn't "far enough behind"...the story of her life LOL)then when I presented her at 3 and 1/2 year old it was her hearing was poor and that's why she was motor driven (after given an observation from a colleague from the Providence Center who came to observe Kelsey for me so that I could bring ti to the school special ed department for as I wanted her tested as she wasn't progressing in preschool like the other kids...she failed the Outreach screen in Providence but somehow passed in West Warwick ...makes you think?)  and now with Kindergarten behind us ( a struggle)  and her motor driven ways (a constant battle) and my new found language ...Turner's Syndrome, Nonverbal Learning Disorder, Spacial Relationships, Difficulty in Math and Memory, Interpersonal Relationships and Behavioral Difficulty....
I have picks the minds of some of the best teachers I know and plan to keep bugging them and others (so watch out if I haven't gotten to you yet... I am coming.....) Plus the school department has to remember not only am I Kelsey's mom ....I am one of them....I am an educator....I will be her best advocate and I will not stop at no, I will not accept anything but the best for her.....this time I have what they want........a diagnosis......and I am educated....I am her mom.....

And the results are in!!!!!

Well talk about not having to wait! Dr Boney (yes that is her name) Kelsey's endocrinologist, called this afternoon......and her heart is GREAT!!! The murmur is just that a murmur. Everything is perfect for now. She goes back for another echo next year!!!! WOOHOOO!!!! Dr Boney just said to wear a chest protector for hockey!.

Kelsey is going to be thrilled! Well off to register her for this season and get ready to play on Friday night at the girls clinic!!!!

In the beginning.....

So first thing is first....kidneys are good....echo went well but we wait to hear it from the doctors later this week...now how did we get here.....

Kelsey came into this world FAST! She was here within an hour of arriving at the hospital ...by c section mind you...and it was rough on both of us.She was barely 7lb... a far cry form the 9 and 1/2 lber that I was expecting!!! I actually asked the dr to check again because the predictions had been she would be over 9lbs. But she was here and healthy and I was DONE!
 She turned blue twice during our stay at the hospital....why we don't know,....I must have asked a dozen times that week what is wrong with her ( I knew that something wasn't right...she couldn't close her mouth)...."section babies don't get squeezed out so they have a lot of "junk" to get out of their lungs" after the first tine she did it while I was feeding her with the nurse in the room about 10 hours after she was born .....the second time was 2 days later and I was alone with her and it was just after I had finished feeding her and placed her down to sleep....I never moved so fast in my life! But again it was "she was a section baby"  Feeding was not going well....I was trying to nurse but she was not latching well...even her latch on to a bottle was poor. She wore more than she ate! This would be a trend for her for the first year of her life.
As time went on by 11 weeks I was back to work with a baby who projectile vomited her bottles, what she did get in, and was soaked after every feeding from the neck down. But she was a tiny smiley baby! She caught RSV and we spent a day at the hospital....then began ear infections, bronchitis, ear infections, fevers, ear infections (11 of them in 9 months) But she was beautiful baby girl with a mess of soft curly hair and huge brown eyes! Within her first year of life she was involved with Early Intervention/Failure to Thrive dx 9lb@ 6mo 13lb @1year...she did not make sounds other than screaming/screeching (hearing loss/ear infections) Sensory Integration Disorder (oral,texture sensitivity) and food allergies (milk)....Preschool was tough ...she learns differently and socially she is rough with others but her size makes it so she gets away with alot because she looks alot younger.  She had her first set of ear tubes at 13 months, then adnoidectomy at 15 months, Tonsillectomy( she closed her mouth for the first time the tonsils were so big they blocked her breathing when her mouth was closed...feeding and sleeping were hard up till then) and new tubes at 2 years, New tubes at 3 1/2, another set of tubes at 5. Hearing loss dx at 4yo. With all of this she was always small......but on the lowest point of the growth chart as she always grew...till this year when she didn't.....(well less then 1/2" in 18months)
In May she went to a pediatric dermatologist for the vitaligo and eczema . Derm wanted her thyroid checked because short stature and vitaligo can match up with thyroid issues....so pediatrician agreed and off for blood work we went.....thyroid came back wonky so we went to pediatric endocrinologist......more blood work and that's how it all got put together and Kelsey was DX with Turner's Syndrome.....Finally an answer to my question I asked 6 years ago....what is wrong with her.....but now it not what is wrong but what make her Kelsey!

Welcome to Growing Up Kelsey

How did we get here.....
6 years....6 years it took to get here. That's a long time when you look back. Over the past three weeks so many times people have asked me why no one picked up on this earlier. I can't answer them, other than to say no one was looking for it. But I will say I have always said that something was not right from the day she was born.
If you are here you know us and want to know what is going on....for those of you who are new to the story....I am Jenn. Darryl and I are raising Kianna and Kelsey here in RI. Kianna is a great gymnast, a fantastic singer and good student...she definitely is beginning to give us pre-teen attitude but she is generally a good kid. Kelsey is my little firecracker! She loves hockey (and gymnastics by default) and swimming actually she loves anything that requires her to be moving!!! She can be a challenge but what kid isn't.

Three weeks ago Kelsey was diagnosed with mosaic Turner's Syndrome. She has 80% one x chromosome is missing part of its x and part is damaged and 20% one x is missing all together. Turner's Syndrome is characterized by 

• Short stature
• Lymphedema (swelling) of the hands and feet
• Broad chest (shield chest) and widely spaced nipples
• Low hairline
• Low-set ears
• Reproductive sterility
• Rudimentary ovaries gonadal streak (underdeveloped gonadal structures that later become fibrosed)
• the absence of a menstrual period
• Increased weight, obesity
• Shield shaped thorax of heart
• Shortened metacarpal IV
• Small fingernails
• Characteristic facial features
• high-arch palate (narrow maxilla).
• pigmented moles
• Webbed neck from cystic hygroma in infancy
• Coarctation of the aorta
• Bicuspid aortic valve
• Poor breast development
• Horseshoe kidney
• Visual impairments sclera, cornea, glaucoma, etc.
• drooping eyelids
• a small lower jaw
• Ear infections and hearing loss
• High waist-to-hip ratio (the hips are not much bigger than the waist)
•  cubitus valgus (turned-in elbows),
• soft upturned nails
• Thyroid issues
• Attention Deficit/Hyperactivity Disorder or ADHD (problems with concentration, memory, attention with hyperactivity seen mostly in childhood and adolescence)
• Nonverbal Learning Disability (problems with math, social skills and spatial relations)

Turner syndrome manifests itself differently in each female affected by the condition, and no two individuals will share the same symptoms.

Okay now that I gave you all the technical stuff...here is how Kelsey is affected so far....
Short stature,Low hairline ,high-arch palate (narrow maxilla),pigmented moles, drooping eyelids,thyroid, ear infections/hearing loss, High waist-to-hip ratio (the hips are not much bigger than the waist),soft upturned nails and probably adhd and nld...we are going to doctors this week to look at her kidneys and heart.

So up next will be how we got to this diagnosis and where we are going....