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="">