Monday, August 24, 2020

Turner Syndrome Questions & Answers Campaign with the Turner Syndrome Foundation

 

 Hello Blogging Friends!!




Today I have a different kind of post.  As most of you know, my oldest daughter, Julie, was born with Turner Syndrome.  I am a Board Member of the Turner Syndrome Foundation and I serve on the TS Awareness Committee.  The committee is comprised of women with TS and Mothers of TS women.  To help raise awareness of Turner Syndrome we decided to write our own questions and answers about TS.  Most of the women chose to do a video of their questions and answers on you tube.  But I was not comfortable making a video so I wrote out my questions in this post and it will also be on the TSF Blog today ~ My Daughter's TS Journey:  Q&A with a Mother.  Here is the link to that post:  https://turnersyndromefoundation.org/?p=19792


Q:  When did find out your daughter had Turner Syndrome?

A:  When Julie was born, the pediatrician and the neonatologist noticed that she had very short arms thought that she might have dwarfism, so the doctors took blood to do a genetic test called karyotype on her.  A karyotype is when the doctors look at the chromosomal make-up of cells.  So, six weeks later, when the results came back,  the pediatrician called us and set up an appointment to talk in his office.  That is when we learned that Julie had TS.

Q:  What were your first thoughts on Turner Syndrome?

A:  We had never heard of TS before, so we didn't know what to expect or what it meant.  The pediatrician told us to go to Robert Wood Johnson Hospital and have her seen by a geneticist there.  The geneticist did another karyotype test there, and that confirmed that she had mosaic TS.  My husband and I were not happy with the way the appointment went because we felt they were treating Julie as a science specimen.  There were several doctors and medical students in the room with us, and they were taking measurements and looking for information for themselves, instead of guiding us through what we could expect for Julie's future.

The hospital where Julie was born had done a karyotype blood test, but the geneticist at Robert Wood Johnson wanted to repeat it.  They took Julie out of the room and told us to stay behind.  We could hear her crying because they tried to get blood from both or her arms and then both of her feet.  So when we left there, I told Wayne that I would never let them take her away from me again to do a test of any sort.  But we were first-time parents dealing with a diagnosis that we had never heard of before.  it toughened us up!  Because of all of this, we made an appointment with the Genetics Department at the Children's Hospital of Philadelphia (CH0P).

Q:  Did you tell your families about Julie's diagnosis?  Why or why not?  What was their reaction?

A:  The doctors at CHoP advised us not to tell our families because they would treat her differently.  In retrospect, I don't that was the best advice they could have given us.  Our families knew something was wrong but didn't know how to ask us about it.  We wanted to get all the tests and X-rays done first, so we had a clearer picture of how this might affect Julie.  My parents waited for us to tell them.  My Mother-In-Law took Julie to my husband's old pediatrician while she was babysitting Julie.  Because Julie was growing very slowly, she thought that I was starving her.  The pediatrician examined Julie and told her that we weren't starving her.  After that, we sat down and told our parents that Julie had TS.  My parents were very supportive, but my in-laws were not.  They had a hard time accepting that Julie was not a "normal" child.

Q:  What did you learn about Julie's health early on?

A:  The doctors at CHoP told us that Julie would be short in stature, and that she would have trouble with math.  They added that, if we gave her some extra help, she would eventually catch up to her peers.  A cardiologist evaluated her to see if she had coarctation.  She did not, but the doctors told that she should be monitored by a cardiologist for life because she could have issues later.  She also had X-rays to see if she had a "horseshoe kidney" (when two kidneys fuse together at the bottom to form a U shape), which she did not.  Lastly, they did a special blood test to see if her marker chromosome was a Y, which could have created other issues, but it was not.

Q:  How else has your daughter been affected by Turner Syndorme:

A:  Julie was born with a very high palate, which created feeding issues where she would spit up food through her nose.  She aspirated (when food enters the airway) at six days old and went to the NICU.  Over the years, her doctors diagnosed her with ADHS and ODD and considered her as having multiple disabilities.  She also had developmental delays and behavioral problems.  We enrolled her in an Early Intervention Program, followed by a pre-school program for children with multiple disabilities in our school system.

Now, at 32 years of age, she cannot write, other than her name; can read some sight words, but not a book; cannot drive, had trouble with IBS; and has challenges with anything that requires good fine motor control.  She has had many ear infections and has had to have tubes put in her ears several times.  She lives in a group home and always will, because she can't live independently.

Q:  What do you think are the most special things about Julie"

A:  Julie is a very outgoing person!  She loves to meet new people and learn about their families. She also has an amazing memory!  If she meets someone new and asks about their children, she will remember their names and anything you tell her about them.  Julie never has a bad word to say about anyone!  She is a very happy person, loves to laugh, and adores animals.  She lives in a group home and helps out her housemates all the time.  Julie and I have a very good relationship. She loves her sister Jenna and loves it when she takes her some place.  They get along wonderfully!

Q:  What advice would you give parents who have just found out their daughter has Turner Syndrome?

A:  The most important thing, in my opinion, is to be a strong advocate for your daughter for medical and educational issues.  Most of Julie's doctors are not familiar with TS, since she is usually their only patient with this condition.  Be aware of the educational issues that could give her trouble, such as poor math skills and difficulty reading facial clues.  You know your own child best.  If you feel that something a doctor or teacher is saying about your daughter is not accurate, stand up and tell them.  Don't be afraid to speak up for your child.

For example, when Julie was in a pre-school, they shared a classroom with the physical therapy (PT) department.  Several times a week the PT would go into her classroom, behind a portable wall, with a student to play basketball.  The child study team kept insisting that we should increase her ADHD medication to get her to behave in the classroom, instead of addressing the distraction.  After becoming aware of the situation, I contacted the other students' parents and asked for a meeting with the Principal, who moved the PT to a different area of the school.



Julie is a happy young woman with a great personality and she lights up any room she enters!!


At this point in time when I look back at when we found out Julie had TS, we didn't know anything about TS, never knew anyone who had dealt with this before and this was our first child after having two miscarriages.  We wanted Julie, but we had no idea where this would take us.  There were times when we felt we were given a very precious gift and then there were times when we thought it was way too much for us to handle.  Between many medical issues, educational issues and behavioral issues at times it felt like it was too much to deal with.  Then there are other times when Julie brings us so much joy and happiness!  In the end, I would do it all over again!  Julie is my hero!  I wish I could have her attitude and love for everyone!  My advice to any parent just learning their daughter has Turner Syndrome is she will brighten your world and teach patience and love!

If you would like to watch the videos from the Questions Campaign here is the link:  https://www.youtube.com/playlist?list=PL4rOXTzNu39ayA5wZStkc94iChehBF7wn



Thanks for stopping by!

Lori

Tuesday, February 18, 2020

2020 Winners from the "It's A Girl Thing" Turner Syndrome Awareness 2nd Annual Blog Hop

repost on 2-18-2020

Hello Blogging Friends!!


I am reposting this in case you missed the Winners from the "It's A Girl Thing" Turner Syndrome Awareness Blog Hop 2020!!


Thank you to all those who participated in the "It's A Girl Thing" Awareness Blog Hop 2020!! 


 

Julie and I thank you for hopping along with us and learning about Turner Syndrome!!


To the "It's A Girl Thing" Turner Syndrome Awareness Blog Hop 2020 WINNERS!!


Here are the Very Generous Sponsors:



Here are the Winners of the Sponsor Prizes



SheepSki Designs
5 images of winner's choice her store

Winner ~ KiwiKreations from the My Turner Syndrome Journey Blog



Bugaboo Digital Stamps
$12 Gift Card to the Store

Winner ~ Dee Earnshaw from Donna Ellis Blog




Scrapper's Delights
3 Digital Images

 Winner ~  ScrAPamondo from Dar's Crafty Creations





The Artsy Stamper Shop
2 Digital Stamp sets of the winners choice

Winner ~ KT Fit Kitty from Nellie's Nest

8 - $25.00 gift cards to Unity Stamps Company

Winners: 
1.  Darlene from Anne-Made 
                               2.  Donna Ellis from Handmade by Michelle                                
3.  Michael Trent from Jane's Journal
4. Bunny from Creaine-Cards
5.  Lori M. from djkardkreations
6.  TracyM#6773 from Stamped Smiles
7.  Shell B from Jan's Digi Stamps
8.  Lagene fromnAnne Buckingham's Blog




$25.00 Gift Card to My Favorite Things

Winner Siskiyou Sue ~ from Fred She Said Blog


Dies R Us
$15.00 Gift Card to Dies R Us

Winner ~ Verna Angerhofer from Life of a BZscrapper


Newton's Nook Designs
$25.00 Gift Card to Newton's Nook Designs

Winner ~ Janis Her Peaceful Garden from Mississipp-McGyver

Whimsy Stamps
1Winner ~ $25 Gift Card
1 Winner ~ 3 Digital Stamps of their choice

Winners:
$25 ~ Jan Mahew from Creative Crafts by Lynn
3 Digi stamps ~ Fikreta from A Fourth Life

Sugar Pea Designs
$25 Gift Card

Winner ~ Christine Miller from Stampartpapel


$25 Gift Card 

Winner ~ Connie  from Cimbacreativefun



Imagine Crafts
$25 Gift Card

Winner ~ Vicki Parson from Chasing the Dream




Frantic Stamper
$25 Gift Card to the store

Winner ~ Lisa BZscrapper fromn Made by Meghan K



Neat & Tangled
$15 Gift Certificate to the store

Winner ~ Diane Hover from Crafty Goodies


$25 Gift Code to the store

Winner ~ Macimbalo from World of Michael Trent


Beccy's Place
5 ~ $10 Gift Certificates

Winners:
1.  Sharon G. from Cherish Each Precious Day
2.  Dana M from Lena's Creations
3.  Denise Bryant from Gail's Blog
4.  Becca Yahrling from Just me: c
5.  Mandy from Made by Helen



The Gray Muse
$25 Gift Card to the store

Winner ~ Anne Buckingham from Lori's Kreations




Fred She Said Designs
 $10 to her amazing store

Winner ~ Sheryl from Embellish Craft Love




Gina Marie Designs 
$10 gift code to store

Winner ~ Lynn Hayes from Penny Ward Ink


Fabrika Fantasy Digital Stamps
3 digi stamps

Winner ~ Lena from Nubble Light Designs



Lavinia World
$15 gift code to store

Winner ~ Heather from Shery Russ Stamplorations



Pattie's Creations Digital Images
3 digi stamps

  Chandhini  from The Scrappy Fox


Jan's Digi Stamps
$12  gift code to store

Winner ~ Nadine from DL.ART Blog


Crackerbox & Suzy Stamps
$25 gift card to store

Winner  ~  Bernie Cuttino from Made by Helen



Samantha Aguilera
$50 gift code to her LuLaRoe shop

Winner ~ Meghan K from Shona's Stamping Stage



Jennifer McGuire On-Line Card Classes
3 class spots to online card classes ~ winner picks which class

Winners:
1.  Shartl from Meticulosity
2.  Celeste Goff from Lori's Kreations
3.  Waverunner from TSA Blog



Pinkfresh Studio Paper Goods, Stamps and Dies
$25 Gift Card to the store 

Winner ~ Anne Temple from Granmargaret's




DigiStamps by Charlie
$15 Gift Card to the store

Winner ~ Lucy E from Lori's Kreations



Blue Knight Rubber Stamps
Stamp Prize Package


Winner ~ Jean Marmo from Fresh by Jess



Kat Scrappiness Stamps, Dies and Crafting Supplies


Kat Scrappiness
A Kat Scrappiness Package valued at $50

Winner ~ Donna Ellis from Don't Mess With Me, I'm Scrappy


Joy Clair 
$25 Gift Certificate to the store for stamps only

Winner ~ Becky from Craft with Me



Crafty Sentiments Designs
3 digital images of winners choice

Winner ~ Birgit from  Lori's Kreations.



Twinkle Lane Designs
L8 Voucher to Etsy store

Winner ~ Fikreta from Kat's Tales of Stamping


Oddball Art Company
$10 gift code for digi stamps

Winner ~ Erika Strange from Nadine Carlier Blog


Ike's Art World
$15 gift code for digi stamps

Winner ~ Anushree Vaish from TSA Blog

$10.00 Gift Code to the DL.ART Store

Winner ~ Krafty Karen from Jane's Journal


Anthony's Paper Craft

Winner ~ Michele Henderson from Lori's Kreations  




Please visit the following designers' blogs for their announcements


Card Designers Prize Winners:


Anne Temple of Anne - Made
Personal Prize to be announced on her blog

Anne Temple:  Prize #1 ~ Brenda in IN and 

                           Prize #2 ~ Karenladd



Darlene Pavlick of  Dar's Craffty Creations 
Personal Prize to be announced on her blog

Darlene Pavlick:  MiamiKel

Diane Hover of Nellies Nest 
personal prize to be announced on her blog

Diane Hover:  Prize #1 ~ Karen Ladd and 
                   Prize #2 ~  Brenda in IN




Donna Ellis of Creative Smiles - my little crafting world
personal prize to be announced on her blog

Donna Ellis:  Bunny

Lori Kobular of Lori's Kreations
personal prize to be announced on her blog

Lori Kobular:  Shona Erlenborn

TSA Donnor:  Patti J. Gilliam



Cherish Each Precious Day

Personal prize to be announced on her blog

Patti J. Gilliam:  Christine from With a Grateful Heart



Lena Fonkert
$10 Gift Card to Lavinia World

Lena Fonkert:  Janis



Meticulosity

Debra Davison
Personal prize to be announced on her blog

Debra Davison:  Janis


personal prize to be announced on her blog

Anne Buckingham:  Sue D  


Come Craft w/Me

Mary Moisan
personal prize

Mary Moisan:  Michael Trent



Congratulations! 

We hope you will follow this blog to be notified of next year's event as well.





WINNERS ~ Please e-mail Lori at mulchlady6@gmail.com with your name. We will need your email address for those who have won gift cards, and mailing address for those who won tangible prizes, so that the Sponsors can mail them. Thanks!