Category Archives: Medical

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!

Maybe Failing Ain’t So Bad…

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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

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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). http://youtu.be/LOqp4Ny9Bxw

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?

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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!

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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 .

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.

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

Seriously…STOP with the Hair!

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As adorable as Josephine may look in the first picture (God, I LOVE that smile), I hate looking at it.  Her hair was finally back and beautiful and we CHOSE to get her haircuts, both around Easter and in early July.  But, once again, I was forced to make a decision I didn’t want to make – same as last year at this SAME time – to cut off most of Josephine’s hair because of TRICH.

I wanted to cry while explaining the the hairdresser what I wanted (or didn’t want is maybe the better way to say it), but I held it back and pressed on.  Inside, though, I wanted to shout at anyone to help us with this disorder and get my girl to stop pulling.

So, as we head into her 3rd birthday, part of me is saddened to know that her birthday pictures, while filled with joy, love, friends and presents, will also hold the horrible mark of Trichotillomania, a balding head with bits of peach fuzz sprouting all around.

Trich, Trich GO AWAY! Don’t Come Back ANY DAY!

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Contrary to the title of this post, Josephine’s Trichotillomania has reared its ugly head.  Ironically, it is exactly ONE year ago since her first major pull.  Why now?  Josephine is a happy and funny little girl with a love for fish, paper and her brother.  So what is it about August?

My guess is as good as any, but think it’s certainly a path to consider…

Late July of 2010, Josephine started crawling on her own.  New words started emerging.  Progress was everywhere.  Early August of 2010, Josephine started pulling her hair.  She was overwhelmed by what was happening and found comfort in her own hair (and later, mine).

The hair pulling never completely went away, but certainly subsided enough so we could start brushing, styling and cutting Josephine’s hair.

Now we are in August of 2011 and again, we are seeing major progress with her skills – standing independently, cruising and walking independently (when the mood strikes her), improvement on a cognitive level – a lot for a 3 year old to process in a relatively short amount of time (I say relative because everything happens on “Josephine time”, not “the rest of the world time”).

However, while we are seeing great strides, Josephine again is having difficulty processing all these strides and takes it out the best way she knows … hair pulling (Trichotillomania)  and hair eating (Trichophagia).

I am very bothered, both in my heart and in my head, that the Trich as come back.  I have been told it may never go away, but I have also been told that Josephine is so young, so there is little data available to accurately give a prognosis.

I know another child with Tet 8p that also pulled hair, but that symptom seems to have disappeared for her.

So, is this a new symptom for Tet 8p that needs to be explored?  Would she have had this disorder regardless of her chromosome triplication?  Who knows and I suppose it’s best not to go there because I have to deal with the here and now and not the what ifs.  What ifs will cause ME to pull out MY hair and Lord knows, we don’t need another girl in this house that’s going bald!

My heart hurts because there is nothing worse than watching your baby hurt herself to soothe herself.  We try all we can to control her emotions and keep her calm, but when you are in the car on Route 80 in Pennsylvania or on the Garden State Parkway and a major meltdown occurs, little can be done to calm her down.  We stop the car, relax Josephine a bit, start driving again and the whole thing happens over and over again.

Do I wish Josephine could control herself and her Trich?  Absolutely.  Do I wish I could let Josephine’s hair grow long enough to make adorable pony tails?  Absolutely.

Do I think hair is what defines her?  Absolutely not.  Josephine is who she is, hair or no hair.  Just trying to ride out this next wave and keep hope that we can find a cure or treatment to help our little girl and this thing called Trich.