An alternative mom telling it like it is

Tag Archives: klinefelter syndrom

13151763_1712841692304614_8464868990624028258_n

Hey Everyone!!

We are extremely excited to announce that we have KS Buttons for sale – all proceeds will be donated to AXYS – An organization whose mission is to help individuals with one or more extra X or Y chromosomes and their families lead a fuller and more productive life. AXYS has also been an incredible help to our family personally and has ALWAYS been great support of our journey and my blog.

A little bit about how this all came about:

My husband and I are huge disney fans and have recently created a Social Club back in December. One of the main perks of joining such an amazing culture is the collection of pins and buttons and the amazing support everyone has for each other. We have decided to spread positive awareness by selling these buttons! Already we have had an overwhelming amount of orders from the disney community. It has seriously been awesome!

12987098_10209445659442417_5584524855051001913_n

Buttons are:
1 1/2″ Round
$1.50 (includes shipping)
All proceeds donated to AXYS

Please email me with your order at: roebling.k@gmail.com

As of this moment we are unable to ship overseas – BUT are looking for options to be able to do so! If you are overseas and would like to purchase – please email me to be put on “back order”.

 

 

Thank you all for your support!!


image1

Hello All!

I cannot believe we are hitting the 18 month mark ((actually 19 months this month))! It feels like just yesterday I was finding out about my pregnancy.

We had a fantastic check up Monday! Dr. Says he looks perfect clocking in at 22.6 lbs and 32.5″ 😀 Yes, Cheeks is getting long!

As far as his development goes, I honestly could not be any happier!

I cannot stop this kid from babbling! Pretty soon he is going to be saying sentences and its going to freak me out!

He is so smart.. i know parents say this all the time, but he really is! He knows which are my shoes and which are B’s and always sorts them and sets our shoes by us. It’s a trip!

Mr. Cheeks is obsessed with WWE wresting! It’s adorable and hilarious at the same time! He wrestles with anything he can! Toilet paper, pillows, the couch… US! Its adorable!

He is just enjoying life at the moment.. being a little boy!

SPECIALIST UPDATE:

We have not yet taking Cheeks to the specialist out of state. We are still trying to figure out what our new insurance is going to cover and honestly, it’s not a pressing issue for us right now. As a traveling mom its hard to find the right time to take him and honestly, there is nothing serious going on right now to make it a complete #1 priority. Not to say it isn’t important to us, because it is obviously, but we are enjoying the path we are given at the moment. We will keep you all updated as time goes.

Thats about it guys and gals! Thanks for reading!


10411853_10205296346112177_425048071965693535_n

Halloween is our favorite time of year. We love decorating the house and getting watching movies.. it’s our Christmas. Last year was tough because I just had Cheeks and we were scrambling to get moved and situated after the birth. This year, was just as stressful, but we were able to get all dressed up, decorated, and even took Cheeks trick or treating.. which was ADORABLE! I think next year he is going to enjoy it so much more!

We also went to the pumpkin patch as a family.. of course we went last minute and the weather was just not in our favor. It sucked actually. It was stupid windy and just kind of made it miserable for all of us, but we made the most of it and Cheeks really enjoyed the hay ride. We will definitely be doing that again!

10603651_10205255946382209_7917087351330699198_n 10421367_10205255944782169_2807634210540994052_n 1912395_10205255944542163_7215038830220150170_n 1899882_10205255949382284_7676495519321841741_n 10624880_10205296348192229_8458054936211197005_n 10632849_10205296096185929_563648148781553856_n 10636143_10205255946742218_1761216877591911775_n 10644984_10205296347832220_8285785293937444681_n 10676330_10205296348872246_7822436354740422458_n IMG_0142.JPG


It has been a crazy month for us and man do we have some great updates!

First and foremost, we have been accepted to take Mr. Cheeks to the Salt Lake City Children’s Hospital for further genetic/chromosome testing! We are extremely happy about this because I think we are finally going to be able to get some in depth information! I’m hoping that we can also have a solid plan on how to move forward from here with development and such. Super exciting!

Mr. Cheeks is a walking machine!!!! He finally gained the confidence and walked from me to the couch a couple weeks ago. My heart melted and we were extremely emotional about it. Not because he walked, but because of how proud he was of himself for finally doing it! Watching him grow into a little human is so amazing, and seeing him express pride for the first time was just too much. Now his confidence is through the roof and he is attempting left and right to get the whole walking game down. Right now he looks more like a drunk monkey, but hey! He is doing it!

Mr. Cheeks has been a talking animal! I love it! He is still a fairly quiet kid, but man he is starting to understand. He has been really good with talking to us, and also trying to repeat words. So far his list of words include: Mamma, Dad, Uh Oh, Owe, and Neenee (we aren’t exactly sure what that one means, we are thinking night night?).. who really knows!


Image

 

I think a fear in every mom’s mind is something to be “wrong” with their child. Regardless of the outcomes, that amount of love we feel for our child will never leave our hearts; if anything its enhanced.

I was struck with the fear chord a week and a half ago when I found out that my son has been diagnosed with Klinefelter Syndrome. KS is caused by the gain of genetic material – a whole X chromosome. Basically normal boys have a XY chromosome Aiden has a XXY.
Hearing my Dr. sadly say, “I’m so so sorry I have to give you this news… are you ok?” was an angry shock to me….. BITCH. NO IM NOT OK! I DON’T KNOW WHAT YOU’RE TALKING ABOUT! WHAT THE FUUUUUCK IS KLINEFELTER SYNDROME?! IS MY SON OK? WHY ARE YOU SO FUCKING SAD LOOKING RIGHT NOW LIKE YOU FEEL SORRY FOR ME?

So the Dr. gives me a one pager on KS….not exactly the best one she could have given me (I might actually put in a request for a more sensitive one).
Let’s run down the list of symptoms as per the one pager and Kayla’s thought process while reading:

  1. Tall in height (ok… cool Mr. Cheeks will be tall and handsome!)
  2. Smaller Testicles… (eh. That’s fine)
  3. Infertile (well that fucking blows… but it’s doable.. not the end of the world)
  4. **in all caps on the paper** MENTAL RETARDATION (……..ummmm..)
  5. Severe learning disabilities, social difficulties/withdrawal, intellectual disabilities, speech and language delay, neurodevelopmental disorders (……ummmm soooo what are you saying here….)

At this point I was just so in shock I didn’t have any questions for her. Instead I went to Google when I got home.
The one thing that pisses me off beyond belief is that there is hardly any websites that fully go into the real parts of KS. Websites only have the general info I stated above. The problem with this is that it’s so fucking vague! For instance, I know that Aiden does not suffer mental retardation, but as for the other disabilities listed, what exactly does that look like? What typically happens in this case? What do we normally see happen? Are we talking he is going to have trouble with math or are we talking he is not going to be able to comprehend the universe around him? These are things I need to know and Google is not giving me any fucking answers!

After I contemplated for a good 2 hours if I should write a very frustrated and mean letter to Google, I took to facebook, my home away from home and found some private groups of parents with boys who have KS. This was good… and bad. I learned a lot going onto those groups and realized why it is that really just don’t like people.. A. I can’t believe how negative people can be about things. B. I learned that many (and my many I mean the majority of the parents on this site) boys that have KS also have some form of autism.. normally not super severe. C. There was almost TOO much information about their lives and negative experiences… which started to overwhelm me to the point of stress related sickness. However, it did lead me to look on some autism websites – which actually had the BEST and most information about Klinefelter syndrome. The sites also made it not seem so scary, which was helpful.
Automatically my mind goes into a worried mamma bear freak out and I just panic.. What if he has autism? What do I need to do to help him? Blah blah blah you know the drill. The fear of unknown just kills me. Unknown information, unknown future, unknown feelings! And then with my previous postpartum anxiety crisis we wrote about early, I just want to explode.

To answer what is on everyone’s mind at this point.. is Aiden autistic? I can’t tell you right now.. I don’t know. We will have to wait and see. I would like to say right away absolutely not, but there is a chance and the probability is higher because of his diagnosis, but we cannot get him tested until he is about 1… which is all honestly, I will probably get done regardless if he is showing signs or not.

Is he showing signs? He’s a baby – he excels in this and then doesn’t in that.. babies do weird shit at this age. I will admit there are some things he does that are questionable, but I would have never questioned them at this point had I not found all of this out.. I can’t keep looking for things that aren’t there. What I can, and will do is keep the signs in the back of my head. If he ends up showing autistic signs, I want to get it handled ASAP. Sooner the better for treatment.

All in all.. it has been a really hard week and a half for me.. My control issues and a “fix-it” mentality as my dad says is getting in my way. I think the thing that kills me the most is that I just don’t know and I don’t know how to prepare. Which is like every child I know.. but it’s harder when you know the probability with your child. The few people who I have told about this just don’t understand the feelings that I have… a common response is that ‘any child can have autism’…and I get it, but when you see that the majority of boys with KS have autism…it’s hard to shut that off and ignore. It’s really hard to explain, but I’m sure some of you know what I am talking about. SO – after last Tuesdays almost nervous breakdown from stress illness, I have decided to shut off my brain and let it go for now. I have to be strong for not only my son, but for Brandon. We cannot live in fear, dwell on what could happen, and definitely not try and make it into something that it isn’t before we know for sure. We have to enjoy these baby years because they are not going to last that much longer! I have to keep my PMA up!

To wrap this up first I would like to apologize with how all over the place this post is.
I will start a small segment with him called ‘XXY Super Cheeks’ with updates on his testosterone therapy, development, and everything else for my readers who are dealing with this same thing. This is going to be an interesting ride and I hope that you all send positive prayers and vibes our way.

http://www.openingautism.com/Genetics/ConditionDetails/26
Genetics.org
^^best sites I found for explaining Klinefelters^^
PS – He was tested for this because of being born with a smaller then normal penis. They were testing his testosterone levels, estrogen levels, t4, and sex chromosome. 😀

 

 

If anyone reading this has any hands on experience with Klinesfelter Syndrome I would love love to hear from you and get feedback and hear your stories and tips! You can either message below or message me at mammabluette@gmail.com.



%d bloggers like this: