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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!

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 .

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

We are not alone.

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I found a wonderful web site, http://www.chromodisorder.org/CDO, Chromosome Disorder Outreach.  Through this site, I found a wonderful family in Iowa that has a 3-year old with the almost identical diagnosis as Josephine, so they have been our lighthouse in the storm!  Their daughter is the 13th documented case at this point.  Her mom and I have been emailing and we are so blessed to have found another family!  Their daughter is doing very well and certainly much better than the doctors told them she would do.

So, as our geneticist and counselor have said, Josephine is her own research project, just as this 3-year old girl is her own.  When we find more cases, more doors will open to the mystery of Tetrasomy 8p Mosaicism.