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....