Awareness

Two years ago this past August, our sweet Isabella was diagnosed with Kabuki Syndrome. I remember the day we received the call from our geneticist confirming that her genetic test proved what my research and my gut already knew... I remember my body shaking uncontrollably as I hung up the phone, my heart shattered into pieces all over our kitchen floor, the floor where my children sat waiting for me to return to our pretend picnic lunch. The relief of answers battled with the reality of a future I was afraid to face. I struggled to compose myself, knowing that I had to call my husband and tell him that our perfect baby had a genetic syndrome, that she would never grow out of her illnesses, her delays, her “quirks”, that she would have to continue to fight for every simple thing that comes as second nature to most others… My life changed that day, but Isabella's did not. She started her life as a hero, battling blow after blow with resilience and grace, and although we had never even heard the word “Kabuki” until she was nearly 5 years old, her journey with this rare disorder started the day she was born.

The first 5 years of Isabella's life were hard. Really, really, really hard. It is a terrifying thing, not knowing what is wrong with your child, yet realizing that whatever it is, it is bigger than what I, as her mother, could handle alone. I couldn't fix her. I couldn't heal her illnesses, or even shelter her enough from having her catch every bug that came her way. I couldn't make her talk, or walk, or eat, despite taking her to therapy 3 times a week and constantly working with her at home. I couldn't take away her fears of things that I still, to this day, cannot understand. I couldn't be everything she needed, and even though I took her to every medical specialist there is, where they preformed test after test, and even though I researched for hours and hours every day to try to fit the puzzle pieces into some shape that made sense, I could not even give Isabella an answer to why she had to struggle every single day of her life. I was failing her.

I think back to those dark days and I can still feel it, the terror, the anxiety and the bewilderment. While I struggled, Isabella began to thrive. Always on her own time-line, always without a care in the world, she sang her way through procedures, giggled through her therapies, and nursed her illnesses with books and popsicles. She faces her hurdles without hesitation, and never wants for more than the beauty she gets out of the life that she has. Although every mother will say this about their child, the truth is, Isabella is the happiest, the bravest, the most joyful and empathetic child I have ever known. She doesn't know anger. She doesn't know cruelty, or jealousy, or evil. She is the child that wants to know your birthday, will remember it forever, and will be the first to make sure you are celebrated on your day. She is the child who, when asked her favorite animal, will smile broadly and declare that unicorns and butterflies are tied for that title. When another child once swiped a toy from her, she squealed happily and said “I am so happy that you love that princess too!” She will give anyone her last M&M if they ask for it, and she will talk about how happy she is that she could do that for the rest of the day. She never complains about the injustices of life, she never feels bad for herself, she never asks why she endures so much. She is content to just be here, living her joyous life the only way she has ever known how... with resilience and grace. And a whole lot of giggles.

I look back at myself during those early days, and I look back to that day two years ago when I picked up the pieces of my shattered heart from the floor, and I realize that it is Kabuki that healed me. I was afraid of what her future might hold, and I was afraid of what it meant to have a special needs child, to be a special needs parent. Her diagnosis brought us answers, directions for more specialized help and most importantly, a worldwide family of people who were walking the same path that we were struggling to navigate. And even though it brings a wide range of hurdles for Isabella to battle, she wouldn't be the most inspiring and spirited ray of light that she is without Kabuki Syndrome. She still continues to heal me every day.

Today, I am proud to raise awareness for Kabuki Syndrome. Knowledge is a powerful thing, and it would be an honor to help make it possible for other families to receive an early diagnosis and avoid years of unknowns and heartaches. I am proud to show the world my beautiful daughter, who has taught me more about love, living, and acceptance than I ever would have known without her. I am proud to tell you about the journey we have been on, about all that Kabuki Syndrome means for Isabella, about the things we have learned along the way. I would love to brag about all of the amazing people that have come into my life because of my daughter. I would love to share what it feels like to celebrate every single milestone and accomplishment that your child reaches... We are so blessed.

There will always be obstacles, there will always be fear, frustration and hardships to battle through, but Isabella has taught us to battle without failure as an option. She has taught us that giggling soothes the soul, and that even the most shattered of hearts can be made whole again, rebuilt with love, held together with hope, and sealed with acceptance. Mine is living proof.

Happy Kabuki Syndrome Awareness Day.

(Thank you, Peta Colton and www.sakks.org for the beautiful awareness posters <3 p="">

The Past 15 Months In One Post

Hi.

I was so annoyed with myself that it had been 9, then 12, now almost 15 months since my last post that I kept putting it off, because hey, what's another month? But when I look at all the amazing things that have happened since I have last posted, I realize that a month's worth of changes in our family is huge, and I am even more annoyed with myself that I haven't documented it like I've wanted to.

So what have we been up to?

Meet Lilia:

She's awesome. I love watching Isabella and Noah with her. Bells thinks she's hilarious, she laughs at everything Lilia does. She'll ask her questions -- "Lilia, are you happy?" "Lilia, how was your day?" "Lilia, what's your favorite color?" -- and then she'll ask me what Lilia's response to those questions are. And then she'll laugh. 

Noah is the sweetest big brother I could have ever imagined. I'm not just being biased, he really is so good to her. Where Isabella sometimes forgets Lilia exists, Noah knows where she is and how happy or sad she is at every given moment. He checks on her when it's been a while since he's seen her, he kisses her 100 random times throughout the day, and he tells everyone that meets her that "we named her Lilia and she's very fragile". This boy of mine has a soft spot for babies, and especially for Lily.

So besides growing a baby and then loving on her for the past 4 and a half months, we've been busy with the normal routines of life. Noah is in preschool again this year and he is thriving. His speech has improved dramatically, and he's always coming up with phrases that make us laugh. He is sweet (he tells me he loves me all day long, which is usually followed up with a "do you love me so much mommy?") and very sensitive (his feelings get hurt and he cries easily if he is disciplined), and he is also the most stubborn child I have ever met. He loves to hang out with Lilia and I in the afternoons when he is home from school, but he also enjoys hanging upstairs in his room playing by himself. He just turned 4, which, while being a sometimes difficult age with his stubborn nature, is also a really fun age to parent a little boy.

As for Bells, the girl is PROGRESSING! Sometimes the speed of progress is hard to see because in some areas, she is still moving at a snail's pace. But in other areas, her improvements are huge and real and absolutely thrilling. She loves school, loves her teachers, loves going to therapy, and loves working on her reading, flashcards, and homework at night. She is working on and has shown improvement with holding her writing utensils the correct way with the correct pressure used for drawing and writing, and has shown a new interest in coloring (which she used to show absolutely no interest in).

She has also improved in her gross motor skills; sometimes she will run so fast across the house that I am afraid she won't be able to stop herself before she runs into a wall. She can bounce and hop, and jump forward a few inches and down off of a step. She is working on kicking, throwing and catching with more accuracy, but she is alternating feet when going up steps and is starting to put her coat on with minimal help (still not close to zipping or buttoning small buttons yet though). Her muscle tone is still ridiculously low, and she is always moving and leaning on things to help offset this, but she keeps trying and learning new skills.

Some of the biggest issues we are working on right now are her irrational fears. She is currently terrified of all movies, and will scream in terror if you even take out a DVD or VHS case. I'm not sure where this fear comes from, as she used to watch movies all day long. She has no problem watching her shows on TV, and even loves it when movies come on the Disney Jr. channel, but if I try to put those same movies on in DVD form she will flip out. I'm talking turning pale, uncontrollable shaking, and screaming in complete terror flipping out. It's pretty awful to watch, so we obviously aren't pushing her into facing her fears right now, but we are trying to talk to her about them. She can't really explain what she is afraid of, which is hard because I'm not sure that she really even knows. I know that sounds, sights, and textures can be overwhelming for her with her sensory processing disorder, but I'm always surprised when old fears dissipate and new fears emerge. She is also afraid of certain toys that she used to love... One of the hardest parts about these fears is that they are starting to effect her in school. She had to leave music class (her favorite!!) this week because they were watching a video. Another time a little girl in her class was playing with a balloon and Isabella melted down in tears. I hate this for her. I can't imagine having to face things that I am absolutely terrified of every single day, without having anyone else or even myself understand these fears. I wish I knew the best way to help her through this.

Health wise, Isabella is doing reasonably well lately. Somehow we have dodged the respiratory flu so far this winter, but she has gotten hit with frequent colds that have turned into pretty nasty ear infections, three of which have perforated her ear drums. She is scheduled for surgery to insert another set of ear tubes on Monday. I'm kind of bummed about this because for years it seemed like the horrors of the recurrent ear infections were behind us, but now that doesn't seem to be the case. My biggest worry surrounding this is her hearing. We've determined in the past year that her hearing isn't great... in fact it's bad enough in her left ear to warrant a CT scan next month to see if there is a surgery that can be done on the bones in her ear and head to somehow improve her hearing. If this doesn't seem to be an option for her, she will get hearing aides. I know that such frequent damage to her ear drums from the infections is only making matters worse, and I am noticing how poor her hearing is getting lately when I am trying to get her attention. I really hope that in one way or another we can fix this.

But overall, compared to last winter, she is tolerating illnesses as well as can be expected. Last winter her immune system really took a beating. One illness in particular (although what it was, I'm not sure... some virus turned very ugly) had me remembering days of her toddler-hood where her usually bright and smiling eyes were glassy and helpless. She was completely couch bound for ten days, and didn't even have the energy to walk herself to the bathroom, so we carried her. Although she required three different doctor visits and a night in the ER, luckily she wasn't admitted for a lengthy stay at the hospital. When Noah caught the same bug the following week, I prepared myself for another sleepless half of a month of nursing him back to health, but in typical Noah fashion, he recovered in two days. It's times like those that I resent Kabuki syndrome and what it does to Isabella's immune system.

Kabuki syndrome had already pissed me off a few other times last winter. In January her geneticist called and told me her spinal x rays showed that she had scoliosis, and not a mild case of it either. She thought it looked to be an 18 degree curve, which in a child Isabella's age is pretty significant. Later, at an appointment with a pediatric spinal specialist, we learned that it was actually closer to a 23 degree curve, but luckily spanned the length of her entire spine, making it's effects mild at the moment. So, for now, we watch and wait to see if it worsens and we go back for follow up appointments every 6 months. Surprisingly, with all of the many developmental and medical issues she has had, this one seemed to hit Nik the hardest. I even caught him Googling scoliosis treatments, which, if you know my husband, is totally not like him. But, in typical Isabella fashion, another diagnosis is not slowing her down a bit, which once again helps us to get through it all.

We also were discussing with her ENT the possibility of doing a surgery to repair her submucosal cleft palate and velopharyngeal insufficiency, but we have decided to put that on hold for now. Her speech has come so far in the past two years, and especially since she has started kindergarten, and recovering from a surgical procedure which would change the anatomy of her mouth and palate would require her to relearn how to make certain speech sounds. When she speaks now, air escapes out of her nose, which results in a nasally sound to her voice, but with that closed off, her speech would be almost incomprehensible (which we realized when she was completely stuffed up with that ugly virus last winter... we actually thought she may have had a stroke because her speech was so affected... turns out she just can't form sounds when her nose is blocked off from her throat. Which is exactly what the surgery would do).

She's working so hard at the things she knows she is behind on... and her just realizing that it's important to me for her to work on these things makes me so proud. Especially when it comes to making eye contact and looking at cameras... Enter: The Lean Head Toward Camera and Stare Directly At It Face:

It cracks me up. Between this and her scrunchy face, she takes the most ridiculous pictures, but to see her trying so hard to look at the camera for an extended period of time, something that is so hard for her, makes me love these pictures more than any other I could possibly take of her!

So there it is, the extremely condensed version of what has been happening in the past 15 months. Although I'm still experiencing severe writer's block, I am going to make more of an effort to update more frequently -- these kids are growing up way too fast for me not to document as much of this amazing time as I can!

The Fifth Candle

My daughter turned five a week and a half ago.

Five.

There are still times when I find myself looking through racks at clothing stores and picking out clothes for her in a size 2T. And then it hits me. She is growing up. She hasn't worn a 2T in two years. And now she is five. A weight lands on my chest and my eyes start to burn. Five. How did this happen?

Shortly after we brought Isabella home from a lengthy and serious hospital stay when she was 2 and a half, I went to check on her in her bed a few hours after she fell asleep. It was late, and very dark, and emotionally, I was not doing well. I sat down on the floor next to her bed and held her hand while I watched her chest rise and fall. I pretended to brush a curl off of her head while I really checked (for the hundredth time) for a fever.

Fear and exhaustion were eating me alive, and I realized that the biggest fear that I had was that she could leave us at any time, and I would be left here, without her to worry about. That thought sent me into a tailspin, and I started to cry. Nik came in and knelt down behind me, hugging my back as he wordlessly stared at our sleeping baby.

"I am so afraid that she isn't meant to be here for long." I whispered.

And all he said was "I know."

We both cried, unmoving on her floor for a long time, because we knew that a lifetime of worry would be worth every extra second, every smile, every breath that she could give us. Yet there we were, guaranteed nothing but the moment we were in, which was horrifying and beautiful, endless and fleeting.

Now she is five. Not a baby, less a toddler, more a "kid". She is miraculous: exceeding expectations, living fully, and unbelievably happy. I wish I could go back and count the wishes I've made since she was born, because the number of those that have come true is a miracle, too.

I have not journeyed far enough away from those dark days to not be grateful for every moment that I get to worry about her. It is a gift that attaches itself to me heavily, slowing me down and making every moment alive with emotion, while simultaneously setting me free to see every second as a wish come true, something to celebrate, the miracle that it is.

Every year on her birthdays past I have blown out her candles for her, making two wishes as I close my eyes. One wish: to be blessed with another day to worry about her, and the other: that someday soon she herself would blow out her candle with a wish of her own.

Make a wish, sweet girl

On her fifth birthday we celebrated her beautiful birth, her beautiful life, and her beautiful future. We sang, with her round face lit up by the single flame of her number 5 candle. When we were done, we told her to make a wish. She looked down, lowered her eyelids, and smiled slightly. After one practice puff, she inhaled again, determined. And then, as if she had been doing it on her own forever, she extinguished the flame of her fifth year on earth and looked up with eyes wide with pride and a shy smile. She looked right at me for the briefest of moments, and I knew that this girl of mine is ready to be five, even if I am not.

I will forever hold on to her fifth birthday candle, the first that she blew out on her own. The one that will always remind me of the day she made a wish for herself, and granted a wish for me.

Happy Birthday, sweet Bells. Always remember to wish hard....

....and to celebrate harder.