An Update on Mabel

schup156 · August 2015

Hello all! I have been pretty inactive on the board the last week or so as we've been trying to settle into a routine as a family of four. But I wanted to give an update on our Mabel Rose. The last I posted was that we were waiting to get the genetic testing results back as the doctors wanted to check for Turner Syndrome because of her heart issue and swollen feet. We got the results back and they have confirmed that she does indeed have Turner Syndrome.

While it's not the news we were hoping for, it is the news we expected. We've been doing lots of research this last week and speaking with her pediatrician about what having Turner Syndrome means for her and her future. We have been reassured that she will have a happy, healthy life! She has already avoided some of the major health issues associated with Turners as her heart and kidneys have normal function. The main concerns are her overall growth and stature and fertility issues. As she gets older we will have to make decisions regarding growth and estrogen hormone therapies, but for right now she's healthy and thriving.

We're focusing on the positives right now and feel very blessed that she is here with us and that doctors were in tune and recognized particular features so that she could be diagnosed so early. The news about fertility in women with Turners was the hardest news to hear, but I know there are so many ways to have a family if that's something she wants someday. We are a tall family (my husband is 6'8", I'm 5'10", and our 3-year old is above the 95th percentile for height) so it will be interesting to have our second daughter be on the complete opposite spectrum. The average height of girls with Turners (without treatment) is 4'8".

Thank you again to everyone who has sent thoughts and prayers our way. If anyone has any insight, info, or stories about Turner Syndrome that they'd like to share I'd appreciate that too!

emmacake08 · August 2015

Thanks for the update. It sounds like she has a really great family to love and support her as she grows. I'm glad your LO is thriving! Squishy pictures please! ;;)

Boslove · August 2015

No experience, but just wanted to sebd my T&P. Glad you caught it early. Good lucl to you and Mabel!

cseley321 · August 2015

I'm glad to hear that she's in good health, that's the most important thing. Thoughts and prayers to you and your family!

carleym93 · August 2015

I had been thinking about you and your sweet girl! I'm glad her doctors were able to catch this so early. She has a great family and will have such a full life. & like @emmacake08 said, we need pictures!

CaliforniaDream87 · August 2015

Good to hear from you. Sorry for the diagnosis but it sounds like Mabel has an amazing support system! Many TnP's for you all!

missmychard · August 2015

Thank you for the update. Sounds like you have a wonderful attitude, which she will so greatly benefit from. Glad you're enjoying your new family of 4!

acgonzalez22 · August 2015

The best things come in small packages! Many blessings.

EmEeGee · August 2015

Glad to hear of her general good health! Will be thinking of you but Mabel clearly has all of the love and support she will ever need.

CarelessDiva89 · August 2015

Sounds like she has an amazing supportive and loving family. Many T&p's for you and your family!!!!

lrichhx05 · August 2015

Continued thoughts and prayers for you and your family. Good to hear she's doing so well!

laylababe3 · August 2015

Glad they were able to diagnose early, T&P's being sent your way. Sounds like she will be growing up in an amazing family!

sushilove15 · August 2015

I had been thinking about you and your sweet Mabel. She has a great mommy! Best wishes and looking forward to seeing pictures!

jlsweets · August 2015

Good to hear the update- sounds like she is in great hands despite the obstacles she may face- many thoughts and prayers to you all

toccoaparker · August 2015

Thoughts and prayers for your family, such a great thing to hear that yall are focusing on the positive aspects; I'm sure sweet Mable will grow and flourish with all the support &encouragement she needs from such a loving family!

benmel31 · August 2015

Thanks for the update! It sounds like you and your family are just what she needs- a supportive family! Stay positive and best wishes!

Miz_Liz · August 2015

You clearly have the right attitude, she is very blessed to have been born into such a great family! Glad she is thriving!!

SashaDenn25 · August 2015

So glad to hear they said she will have a healthy life!! She is blessed to have such an amazing family to support her and great doctors to give such an early diagnosis. Ill keep Miss Mabel in my thoughts always!!

Seh114 · August 2015

Glad to hear she is thriving.

Saratiff · August 2015

Thoughts and prayers for your sweet girl! Im sure you can find support groups as well. It sounds like she has a wonderful loving family and that makes all the difference. Good luck momma!

breezymeema7 · August 2015

Thank you for the update. You have all been in my prayers. There is a girl (early 20s) in my church with Turners. She is so incredibly kind and sociable. Honestly, I wouldn't have known she had Turners had her mom not mentioned it to me as we were talking about genetic conditions. You and your family will stay in my prayers as you journey down this new path.

Kwest1007 · August 2015

It sounds like you have a good outlook on the situation and that will go far! I'm happy to hear she's doing well! Her and your family will be in my thoughts! I wish you the very best!

kettlekitten · August 2015

You seem to have a positive attitude about the diagnosis which is great - definitely more productive than dwelling on it or being disappointed. It's wonderful she is thriving and healthy. I'm sure there would be FB support groups out there that may be able to offer assistance. Wishing you and Mabel and family all the best!

lifeisapeach · August 2015

@schup156 I pm'd you. Check your in box.

Robin910 · August 2015

I'm so glad to hear that she is healthy and thriving!

schup156 · August 2015

Thank you all so much for your kind words! As requested here's a picture of our little miss Mabel. I think right now the most difficult thing is deciding how or who to share her diagnosis with. We've shared it with all or our family and some of our closest friends. I don't want to seem like we're hiding it or ashamed of it, but I also don't want it to be the focus for her. My husband doesn't really think we need to share it on social media or with everyone, but like I said I don't want to make it seem like we're embarrassed or something by it. And part of me hopes that by sharing it we may find some other people we know who have experience with Turners. Not sure how to find the balance!

Thanks again everyone!

emmacake08 · August 2015

What a little babydoll! I think what you're doing sounds like a good balance. I wouldn't want my child defined by any condition either but you're right that the support is necessary. I imagine you'll figure it out as you go and it sounds like you're doing great! I wonder if there are Facebook groups or actual groups that get together?

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