Tag Archives: Chromosome Disorder Outreach

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!

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.