Maybe Failing Ain’t So Bad…

While I sit on pins and needles, waiting for Josephine’s blood work, I wonder why I am hoping to find high levels of something in her little body. To a parent of a typical kid, this may seem weird or uncaring or negative. But to me, this is possibly the answer.

Since Josephine’s meltdowns and behavior have taken a turn – I don’t want to say for the worse, rather, a different turn – I have been at a complete loss as to what to do, how to handle her during the meltdowns and, most of all, WHY. IF there are higher or lower levels of cortisol or adrenal malfunction or any of the many other things it could be, I can start finding the solutions with supplements or medication. But if the blood comes back as usual, I will still feel lost and helpless. The idea of having a known in our unknown world just gives me the comfort I need.

Of course I would never wish for Josephine to fail at anything (and trust me, with her spirit and drive, that won’t be happening anytime soon!). Please understand that clearly. I just want an easy “A” this go around – an easy answer to a complicated little gal with a set of very active pair of lungs, accompanied by a very strong will to communicate.

A nice family dinner without screaming would be a nice change 😉

Meltdown Mayhem

Here is an example of a 40 minute daily meltdown from J-Bean, condensed into 3:15 minutes. There is a lot of screaming and hair-pulling, so be prepared. It can be hard to watch – I did this to seek answers for these daily episodes, usually after waking from a nap. This particular day was not as bad as most, as she is usually a bit more destructive and aggressive toward herself (she has starting biting her own toes).

I am waiting to hear from our pediatrician about testing her cortisol levels, as well as her adrenal and pituitary levels. The meltdowns DO stem from being tired because they happen if she naps or not – either it happens when she wakes up from a nap OR later at night if she HASN’T HAD a nap. I know this type of behavior can happen with preschool aged kids, but it seems to me that it goes too far and then J-Bean can’t reign it in. She just loses control. In researching the idea of the cortisol levels (thanks to another Chromosome 8p mom), it seems there is something biologically going on with her rather than her just having a temper tantrum. Hoping to hear something soon because my ears are ringin’…

Special or Spoiled?

I often wonder what people think of our family when we are out in public and Josephine has one of her wonderful meltdowns. Do they think, “What a spoiled brat” or “Why aren’t those parents doing anything” or “Poor parents! Maybe they need a break”? Most of the time, by the look on their faces, it’s 1 or 2. In fact, I think 3 is a near impossibility!

And I don’t mind the stares or the opinions or the sympathies. I take it all in stride. Just part of being a parent of a special needs kid.

But when Josephine gets so out of control that our own favorite therapist is at his wits end during a session (last night’s session, in fact), I have to question myself and ask, “What can I DO?” and “What am I NOT doing?”.

When Josephine wakes up from a nap, or from a good night’s sleep for that matter, she is upset, cranky and many times, unruly and inconsolable. Yesterday was no different. This afternoon was no different.

Often I try to calm her down by cuddling, offering her a drink or snack, giving her the favorite stuffed fish or perhaps the absolute best of the best, her socks. Forget the cuddling – AIN’T HAPPENIN’! She shoves the drink/snack and fish back in my face. And just when I think the socks are the answer, more hair comes out…more spit to clean up…more screams…more biting (not me, thankfully)…more frustrations. So I let her cry and freak until she calms down, which generally takes at least 1 hour. I don’t know what else to do.

I know part of her frustration and anger comes out of not being able to tell me what she wants or needs. I can only hope as she gets older, these meltdowns decrease. But I have to live in today and figure out how to handle the now.

So, is it spoiling or survival? Call it what you will. I call it my life.

Rare Disease Day 2013 – A Celebration of Being Unique!

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!


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, 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!!!

What an Amazing Day – After the Meeting of Josephine and Isabelle…6-11-12 @ 12:02 AM

I feel validated.  I feel inspired.  I feel in awe.  I feel…happy.

Josephine and Isabelle had a wonderful first day together.  I will be posting the video of their first of MANY play times for the week, so keep an eye out for it.

Since Josephine’s diagnosis in July 2010, there have been many times when I have felt alone in this journey.  No matter how many times people say they understand how I feel and no matter how patient people are with Josephine’s behavior, they can’t truly understand my heart and how it breaks throughout the day or week.

But Lori and Mike Kelley CAN understand.  And that mutual understanding brings tears to my eyes…now in fact.

When I look at Isabelle and Josephine sitting next to one another, I see a bond.  A peace.  I see Josephine in Isabelle and Isabelle in Josephine.  Same voices, same eyes, same mannerisms, same body type, same smile, same crooked index fingers.

I finally feel an acceptance and relief I have wanted for almost 3 years now.

Please don’t get me wrong and let me be clear – we have the most amazing and supportive family and friends EVER and I am extremely grateful and lucky.  We could not have gone through these last 3 years without those friends and family.  We are blessed.

And now we are blessed to have the gorgeous and supportive Kelley family in our lives for this week and, I know, for many years to come.

We share something very special and unique.  We share Tetrasomy 8p.  But most of all, we share two inspiring and adorable little girls that are taking this world and flipping it on its ear!

WAY TO GO, J-Bean and Izzy!