Category Archives: Milestones!

A Whole New World…Again.

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It’s been far too long since my last post, so I have a lot of catching up to do (well, only since last March…LOL). Josephine has celebrated 2 birthdays (she is now 6 years old!) and has moved up to 1st grade! She has gained 8 pounds in ONE YEAR (she averages a weight gain of 4 pounds per year) and grew 2 1/2 inches! Josephine is FULLY POTTY TRAINED before 6 years old (I was certain we wouldn’t start UNTIL 6, let alone be DONE BY 6)!!!!! Major milestones for our little gal and I have been savoring every moment. Josephine's 6th Birthday!

Josephine’s cognitive skills have greatly improved – she can tell us with words what she wants (at least half of the time, but there is an occasional grunt); she is lovingly responsive to people she knows with spontaneous hugs, kisses and the random “I love you”; she is walking well (minus a few accidents from tripping over her left foot, which turns in quite a bit); she sings and dances; she loves dressing up as a princess; Our Sleeping Beautyshe even loves playing with dolls – she dresses, undresses (her favorite part), feeds, puts to sleep; you name it, she does it!

 

 

 

But now, we are moving on to the next part of Josephine’s journey.

As you know from my past posts, Josephine’s behavior has been out of control. Her meltdowns last anywhere from 30 minutes to 4 hours. There is no rhyme or reason as to why they start and no rhyme or reason as to why they end. As I always say, my girl is predictably unpredictable.

Josephine has always had sleeping issues as well and not knowing how to fix that, we have been walking around at 2:00 AM like zombies, handling random meltdowns.

After meeting with an incredible Physiatrist, Dr. JenFu Cheng from Childrens’ Specialized Hospital in Mountainside, NJ (http://www.childrens-specialized.org/Physician/Physician-Details.aspx?number=89), he strongly suggested meeting with a Neurodevelopmental Pediatrician that specializes in neurodevelopmental behavior not related to seizures and seizure disorders.

In May 2014, we met with Dr. Malia Beckwith at Childrens’ Specialized Hospital (http://www.childrens-specialized.org/Physician/Physician-Details.aspx?number=81) and finally had some answers as to why Josephine’s sleep and behavior were out of control.

Josephine has officially been diagnosed with Autism Spectrum Disorder. This diagnosis threw me for a loop. We have become part of new world, a world I never saw myself in.

For so many years, I felt disappointment that rare chromosome disorder research is overshadowed by Autism awareness and research. For many years, I said doctors needed to check for disorders OTHER THAN Autism because many times chromosome disorders can be masked as Autism. Yet, last fall, I questioned if my own daughter DID, in fact, have Autism. We had her evaluated by an OT for sensory issues and he didn’t see “typical” Autism, although he cannot diagnose anything. We went to the school district to add more OT sessions, inside and outside of school and were told since her behaviors weren’t happening at school, the district would only approve one more OT session in school only. No outside sessions. My heart broke into pieces, but I pressed on, trying to figure out the next step.

Now, many of you may be shocked by this new diagnosis because of what you think is Autism. Yes, Josephine smiles. Josephine plays. Josephine interacts. But Autism is NOT just about the social piece. It is so much more and I don’t understand it all. What I can tell you is out of all of the items on the list to diagnose Autism, Josephine aced the test, all but two of the items. This is one test I didn’t need her to pass. To pass this test meant my little girl got to add another disorder to her list.

The positive part of this, though, is the fact that she finally will get the help she needs to help with her behaviors and her sleep.

In May 2014, we started giving Josephine Tenex, which helps control impulses in kids with ADHD. Tenex has been a great help to toning down her meltdowns and we can actually bring her back to reality in a faster time than before. It’s funny because I often catch myself asking if she needs to be on the Tenex since her behaviors seem to have improved. Then I catch myself again and say, “Duh, it’s BECAUSE of the Tenex that she is behaving better”.

We have now started in home ABA , which is abbreviated for Applied Behavior Analysis (http://www.autismspeaks.org/what-autism/treatment/applied-behavior-analysis-aba). Josephine has 3 hour daily therapy sessions – that’s 3 hours a day, 7 days a week. Through this therapy, it is the hope that we can unlock the secrets to controlling the OCD, anxiety and melting frustrations that happen daily, multiple times a day. It’s a very slow process that requires a lot of detailed data collecting, observation and pushing beyond her comfort zone.

Our next issue is sleep…zzzzzzzzz. Oops, sorry…dozed off there for a minute! But that’s a whole other topic for another post.

For now, we are ready to start the tour of our new world and welcome anyone to join in! It’s not easy, it’s not what we expected, but it’s what we have. I will always be thankful for these struggles and these experiences. I have learned to truly appreciate what matters most in life.

LET’S DO THIS!

Rare Disease Day 2013 – A Celebration of Being Unique!

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J-Bean Smile

Today I honor my daughter, Josephine, born with an extremely rare chromosome disorder called Tetrasomy 8p Mosaicism. I have celebrated many milestones and cried many tears. Josephine is not only my daughter, she is my teacher. She has taught me patience, humility, strength, trust, respect and tolerance.

She has given me a new breath of life.

I know there will be many more milestones and many more tears – I also know there is rainbow at the end of the storm, so I will patiently wait for all those colors to appear in their own time.

Thank you, Josephine, for being my little girl. I love you! Today is Rare Disease Day and I celebrate YOU!

Happy 4th Birthday, Josephine Betty Joy!!!!!

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4 YEARS OLD!!!! Our Little Bean is “sprouting” into a little lady and I couldn’t be any prouder.

I look back on the past 3 years and feel amazed to be a part of Josephine’s life. Her world has given me a sense of understanding and patience I never thought I would have in my lifetime. I still look back and wonder what I did to deserve this amazing daughter I have before me.

So many times I would sit in restaurants, bothered by “those” kids running around or having meltdowns, judging “those parents” that “can’t control their kids” – I must point out SOME of the parents really DIDN’T control their kids, but then again, who am I to say???

We have become “those” parents … and that suits me just fine.

Josephine is who she is. She loves when she wants, kisses and hugs when she wants, talks when she wants, sings when she wants (which is ALL THE TIME and she’s got a gorgeous little voice, by the way) and melts down when she wants. There’s no predicting, no reason in some cases, many reasons in other cases. Yes, there are many times we TRY to control the meltdowns, but there are other times when she needs to go through her process. We make sure she is secure and safe. And we do take her out (usually my wonderful husband has that duty) if she is very disruptive. But this is who she is…at 1 year old or now 4 years old.

I admit I feel sad when I am around other kids her age or younger because I can’t help but compare. I feel a sense of loss, of mourning, even now, 3 years after her diagnosis – it doesn’t go away. We were at a party this weekend and Josephine was interacting with a little boy who had just turned 2 years old. The two of them were sitting there and I was in awe – at first I was in awe of how far “behind” she was from this boy – but then my negative awe turned to a positive awe because I could see how much progress she has made since her 3rd birthday. My sadness turned to pride.

Since last August, Josephine has grown mentally, physically and emotionally – she will now go to school in a car seat and NOT her wheelchair, she randomly runs up to be and gives me a kiss and runs off again (two milestones in one), she sings clear and strong, she can says WORDS…words, she recognizes those that matter so much in her world and giggles at the sight of them…she is growing more and more independent daily.

Josephine is our miracle. Our miracle that can celebrate who she is today and every day.

Happy 4th Birthday, Baby! Keep makin’ us proud – I know you will succeed in ALL you set out to do. That’s all I can ask for.

Josephine and Isabelle – Looking Back

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The Meeting of Josephine and Isabelle (Tetrasomy 8p Mosaicism)

by Krysta Senek

(Originally Published in CDO Newsletter August 2012, Issue No. 68)

Waves of emotion filled my gut. The fear of the unknown started to settle in my heart. This was July of 2009 — the day I got Josephine’s diagnosis of Tetrasomy 8p Mosaicism (Tet 8p). So many questions raced through my brain … Tetra what? What does the “p” stand for? What does this mean for our girl? Are there any other kids with this disorder? How can I meet these families? All I was told by our genetic counselor was “don’t go on the internet because there isn’t anything out there that you want to read.”

The genetic counselor was wrong! In fact, there was a VERY important person “out there.” A little 4-year old girl from Iowa named Isabelle Kelley and I found her by registering online with The Chromosome Disorder Outreach (The CDO).

Isabelle’s mom, Lori, and I shared stories about our girls, always comparing one to the other, especially since neither of us had contact with other families with Tet 8p. While in the back of my mind I always hoped we would be able to meet each other, in reality, I figured it would be in the distant future, if ever. After all, I have no family in Iowa and Lori has no family in New Jersey. I was wrong. Happily wrong.

You see, Josephine has a “guardian angel” by the name of Carmine Iacullo, the Grand Knight from The Knights of Columbus in Livingston, NJ. After a chance meeting one crisp day in October, a pasta dinner benefit was quickly organized by Carmine to give Josephine the specialized physical therapy she needed to walk. One benefit and $5,500 later, Josephine was attending MEDEK (www.novogrow.com) in New Milford, NJ and learned to walk independently. I saw one miracle appear with my little girl and knew another miracle could be created for another. Once again, Carmine and The Knights of Columbus agreed to fund the MEDEK therapy for Isabelle.

That brings me to June 9, 2012. I was driving to Newark-Liberty International Airport, with butterflies swarming around my belly. I was about to meet the Kelley family… and Isabelle. Again, questions raced around in my head … What are they like? Will they like me? What if Josephine and Isabelle don’t get along? Will I constantly be comparing my girl to theirs?

All doubts lifted quickly upon first site of the Kelley family. That first embrace with Lori felt like I was home. I was in the arms of another mother who “got it.” Then, looking into the beautifully deep blue eyes of Isabelle, I found my Josephine. Everything felt right and all those questions I had in July of 2009 disappeared.

The week that followed was one of the most rewarding and profound experiences of my life. I went from wondering what was going to happen to marveling in the similarities of our girls. Josephine had Isabelle’s smile. Isabelle had Josephine’s eyes. Both girls had each other for the first time. And Lori and I had each other. There were no apologies or explanations for our girls’ loud outbursts of anger and frustration. There was no embarrassment because of how our girls walked and talked. There were no judgmental looks wondering what was “wrong” with “those kids”. The entire week was filled with acceptance, joy and successes. In fact, after 10 sessions of MEDEK, I am overjoyed to share that Isabelle is now walking independently! The second miracle happened, just as I had hoped.

Looking back on that short week of my life with Isabelle and Lori, I think of where I was emotionally during that first year after Josephine’s diagnosis. I hardly recognize that mom who was full of doubt, questions and mourning. I have grown to not only accept Josephine for who she is and what she has yet to accomplish, I have also realized I am not alone. Josephine is not alone. We are part of the rare world of chromosome disorders. A world like no other. And I would never trade that in for anything. Ever.

Visit this link to watch Josephine and Isabelle’s news story, featured on NYC’s WPIX Channel 11, http://www.wpix.com/videobeta/e501b642-e287-404f-a081-5f2d7c0f095b/News/Two-Girls-Battling-Rare-Chromosome-Disease-Meet-For-First-Time .

For more information on Josephine and Tetrasomy 8p Mosaicism, check out our web site, www.normalforjosephine.com .

CALGON — TAKE ME AWAY!!!

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As I drop dead from exhaustion, I sigh a happy gasp of air…

J-Bean has FINALLY hit her TERRIBLE TWO’s…new milestone ACHIEVED!

While I am excited and proud that my soon-to-be 4-year old has hit this behavioral milestone, I am also ready for some serious relaxation.

The following has been my day in the past 12 hours (in no particular order):

Pickle jar on counter almost on floor, broom almost on child’s head, hamburger buns smashing into floor, DVDs used as scooting mechanisms, play laptop used as chair, DS games carried throughout house (to the dismay of older brother), kitchen dishtowel consistently thrown from oven door bar to floor, front screen door consistently open and closed, dirty laundry items thrown down stairs ONE BY ONE, broccoli strewn all over table and floor by menacing fingers, water from dog bowl spilled into cracks of tile floor, bathwater splashed about bathroom floor, newspaper scattered over kitchen floor, Tupperware lids used for various reasons OTHER than to cover food container, unhappy daughter screaming because evil mom takes off beloved jacket to go out into 99 degree heatwave…you name it, it happened.

I love wishing for these milestones to arrive and I will try to embrace this one too, however trying it may be.

I “lovingly” recall shopping at GameStop this afternoon so Sheldon could trade in his DS Lite for a new 3DS for his birthday present – as Sheldon was figuring out what to get, J-Bean started acting out. It started with kicking in a store display and ended with knocking many games off the shelves, all while laughing her manipulatively cute laugh. I am certain the manager to was happy to see us leave.

I was happy J-Bean was where she was – the TERRIBLY TERRIFICALLY TERRIFYING TWO’s.

Back to Reality

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It’s been 4 days since Isabelle, Lori, Mike and Jordan Kelley flew back to Iowa – and I am missing a piece of my heart.

Looking back on last week, I feel like I was visiting my own personal Disney World – Tet8p World.

Izzy’s visit was so much more than I imagined it. Yes, the TV publicity was TOTALLY AWESOME, but what I will remember the most was a sense of belonging and understanding.

When Josephine was having a meltdown one afternoon (one of many, by the way), Lori came upstairs and said, very simply, “Ah, yes, I remember those days.” And each girl’s meltdown led to the other girl’s meltdown. A cacophony of cries in various patterns and pitches and all I could do was smile and laugh. Not laughing at the sadness of the girls, but at the similarity of it all at the same time. It was like J-Bean and Izzy were talking in their own language and got each other – it would be nice to have a lesson in their language – would definitely help us out a bit more.

I know we will see each other again and the girls will be in different places developmentally. And it’s my hope they will pick up right where they left off last week – ready to throw science and medicine to the wind and do what they do best – AMAZE and AWE everyone they put under their spell.

Amazing Support for Josephine

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The pouring of support for our daughter Josephine and her friend Izzy has been nothing less than amazing! We are forever grateful to so many people who help us on a daily basis.

We all gathered in front of the TV this morning to watch the great story that PIX 11 News did on Josephine and Izzy and the rare genetic disorder they both share. We believe this story not only helped to bring some awareness to their particular disorder, but also the many, many people who have special needs.

Anyone who has a special needs child can attest that it changes your life forever. It’s true that some of your hopes and dreams change…but in some ways, for the better. You find yourself focused on the present–and not to think too far in the future of what may or may not be. Instead, we find ourselves everyday celebrating ‘what is.’

I work at a motivational speakers bureau (Eagles Talent) and one of my of my favorite speakers (W Mitchell) has a saying, “it’s not what happens to you, but what you do about it.” When we learned about our daughter, we had a choice, to be negative or embrace the positive. We chose the latter and haven’t looked back. Yes, our lives are filled with challenges, but we wouldn’t trade them for the world.

This has been an extremely special week for us as we have hosted the Kelley family with their little girl Izzy. We absolutely love her and have already developed a wonderful bond with her (we even got to celebrate her 6th birthday with her yesterday!). She has been her all week going to special therapy and already we can see that it’s helping! Words can’t describe what it’s been like meeting Izzy and her family–and will miss them when they return to Iowa (sooooo glad we have social media to keep up to date!)

We filled blessed to be involved in the special needs community (and love the school that our little JBean attends PG Chambers) . We also feel extremely bless to have tons of support from our family and friends.

We look forward to sharing new information about Josephine and are going to work towards starting a foundation for kids like Josephine and Izzy with rare genetic disorders.

TETRASOMY 8p MOSAICISM is NATIONAL!!!!

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My heart is exploding with pride and joy and my eyes are crying enormous tears of happiness!  After 3 years of fighting to get the word out about rare chromosome disorders, TODAY, the dream came true!

WPIX Channel 11 Morning News aired a segment by reporter, Dan Mannarino, about J-Bean and Izzy meeting for the first time.

The PIX web site has received thousands of hits and Dan got a call from AOL.com, asking to make our story the video of the day…

Now, when you Google the title of the video, the search results show the video is on the web sites of KTLA (Los Angeles), Fox 5 San Diego (San Diego), Chicago Tribune (Chicago), Fox 59 (Indianapolis).

My hands are still shaking as I am typing!

And I just found out that a parent registered with The Chromosome Disorder Outreach because of the story.  AMAZING!!!!

Of course, I need to thank Laura Gallagher for bringing it to the attention of the executive producer at WPIX News (name withheld until I get permission to add it), Dan Mannarino of WPIX Morning News, Carmine Iacullo and the Knights of Columbus, Azriel Novogroder of Novogrow and the simply wonderful Kelley family…none of this could have been completed without each and every one of you!

Without further ado…THE VIDEO!!!

http://www.wpix.com/videobeta/e501b642-e287-404f-a081-5f2d7c0f095b/News/Two-Girls-Battling-Rare-Chromosome-Disease-Meet-For-First-Time