Determination leads to Victory

Tears flowing down my cheeks, not because of sadness but because of an overwhelming wave of emotions, happiness, thankfulness,relief and pride. You see Yesterday was the first soccer practice for Josslyn, something many parents go thru nothing to be so emotional about, except, 4 years ago we never thought this would be possible, at least not so soon.

 Josslyn was born with Turner Syndrome or TS as we call it, she is a classic case which means she is missing 1 X chromosome. This is a disorder that happens randomly in the beginning of embryonic development, it happens in 1 of every 2,500 girls born worldwide and many go undiagnosed until their teen years unless they have heart problems or clear signs at birth or are lucky enough to have a Dr that knows enough and can spot it.

 For more information about Turner Syndrome please look up: http://turnersyndrome.org/

  For our Josslyn it would take almost 2yrs from her birth to get a diagnosis that would explain everything we had been going thru since before her birth. Josslyn had been behind on all her milestones and when I say behind I mean over a year behind. Her gross motor was affected by low muscle tone also common in TS, she kept failing hearing tests and having tubes put in to drain 3 times, her language was very behind to where she had just 4 words when she should have had at least 50 or more, this caused a lot of frustration for her and us as well so we embarked in sign language which helped. A team of Early intervention specialists would visit us weekly and we also did Occupational therapy and behavioral therapy to address the anxiety with change, her gross motor skills, her language skills.

The part that most got her frustrated was not being able to walk and not yet stand alone when she was already 18mo, until then she had done army crawls and rolling over because she could not get on her knees. Watching her brother who was 6yo at the time play Soccer and my husband, my older daughter and I practicing with him would get her so upset it would break my heart. I decided to use soccer as an incentive to move her legs. I would hold her dangling over the ball and swing her so she would kick it, oh she enjoyed that so much, however our backs did not. We did this everyday as much as we could because her want to play was bigger than her not being able to just yet. Soon after she started walking, was very wobbly and would fall a lot, but was happy to kick the ball. We practiced daily which helped her balance and coordination and she was pretty good and fast.

 Even though she was finally walking by age 2 she still needed a lot of help, it wasn't until after 3 1/2yo that she could walk steady without falling so much, she continued therapy in which we practiced walking sideways and backwards, things that just come naturally to other children she needed to be taught. And even though by then we had addressed this obstacle we still had to face social anxiety, you see she also has a form of autism (PDD-NOS)and new things, change in things and being around a large group of people well it was just not possible for her.

 Thankfully having her in special education at our school starting at age 3 and still doing behavioral therapy, speech therapy and Occupational/physical therapy helped her develop social skills needed to interact appropriately with others and being able to follow rules and instructions, being able to separate from us and go with her peers and teachers which brings us to Yesterday....an amazing day in which she had decided she was ready for Soccer and we decided to give it a try.

I am so thrilled she was excited to practice and be with her peers and did so well. It doesn't matter if they win games or not, to us she already won, she defeated the odds from the very beginning and will continue to do so because she is full of Determination.

 To read more stories about TS and our families visit one of our friends  and fellow TS Mom where she featured stories for TS Awareness Month and we had the pleasure to guest blog : Fat Little Legs

 Thank you for reading our story and joining in our Turner Syndrome Awareness Campaign. We acknowledge TS Awareness month as February, but to us who love someone with TS, awareness happens every day.

 I specially want to thank a GREAT group of Moms and Families that help with support and knowledge..if you are a parent of a girl with TS, please look for us here : TS Mommies n Parents

If you are in the medical community and wish to receive a FREE 1 Hour CME credit please visit: Turner Syndrome Society of US  

Remember 1 in every 2,500 girls has TS, you may know one or come to love one and not even know it. Education,Awareness  and Early Diagnosis is key to helping them achieve their goals.

Living with Punky Bruiser

It' been a minute since I posted last, mainly because we have been sick in rotations...and just in case you were wondering if I did a Typo on my tittle..NOPE. I am not talking about Punky Brewester the character brought to life by Soleil Moon Frye in the '80s,which I happened to love watching; I am talking about my very own Punky Bruiser. Yep life with Punky Bruiser is very challenging, exhausting, but loving and fun. My Punky is in love with purple, it if were up to her the world would be painted in purple with the occasional orange, pink, red and brown to contrast. See she loves these colors and they bring peace to her soul. Why? Well I don't know, and to tell the truth I've tried to figure this one out for 2yrs now and gave up and now I'm simply happy knowing it IS what it IS and it works for her, therefore it works for us. Purple works and so does mixed matched socks and shoes, tops and bottoms, it just does. Flowers and prints, stripes, dots, animals and all seasons mixed. And this has been OK because she never ventured into the world all discomposed. Never until NOW....yep she broke down and wore pink and white stripe panda shirt with blue jeans with green and blue turtle belt, white and red light up Reebok's with black socks with orange Jack o'lantern. EEEEKKK! I freaked, I tried to explain it did not match (she's usually very good about matching), but this particular day she needed to wear these mix matched items. She was going to Occupational Therapy and it's like she knew they'd be trying something new that day and would only be able to handle it dressed as "Punky Bruiser"
She broke every rule in my book and ALAS I now understood others I have seen dressed just like her. I was not going to fight, no point to it really, I explained myself a couple times and she was not "getting it" and instead of starting WWIII, I caved in and decided she needed to be herself.
And you must be wondering about "Bruiser" well that's her our little bruiser, she's tough and gets bruises often. She runs into the world head on full throttle no matter what. And when she's not getting them she's delivering them to our other children. Of course they are always under close supervision, but if you knew her you would see why it only takes her a quick second to overpower a 7yo while she is only 3. In a split second she can spell disaster in a million ways and still look angelic. Please don't get her wrong she is not lacking discipline, nor rules or limitations, they are there and set and time outs and lose of privilege take place,however she doesn't fully "get them". At least not YET. We hope and pray that someday SOON, she will join the others in the understandings of our family dynamics. Until then we keep living life with Punky Bruiser and loving her to the fullest and enjoying her silliness.
This is a glimpse in the life of my 3yo with Turner Syndrome, Developmental delays, ADHD, Anxiety Disorder among a few.


Here she is in her favorite color, purple with her older sister being silly.



Miss Punky B Tutu made by mom