365 Days....

One year ago today our lives were irreperably changed. With one phone call our world was turned upside down, never to be the same again. Our beautiful baby girl was diagnosed with Rett Syndrome. I feel it a herculean task to try to relay everything that has happened in the past 365 days. There have been so many different feelings, triumphs, heartbreaks, hopes, fears, joys, sorrows.. you name it, we have had it. For me, looking back, I think the first few months were spent in disbelief plus a pretty abundant amount of grief. Once I realized that it was ok to grieve, that my feelings of loss were not unwarranted, there were tears, and lots of them. To be honest, there was more than a healthy dose of anger as well. I was mad, so angry that this could happen to our baby. Aren't there enough nasty adults around to inflict this kind of thing on??? I didn't drink when I was pregnant, I took all the vitamins and then some, I followed all the rules...why?? Why do women who don't take care of themselves or get pregnant as teenagers and flaunt it on tv have perfectly healthy babies??? I quickly realized that I wasn't going to get any answers to these questions..that I had to come to terms with it in some way. I also realized that this was our new reality and that our baby needed help and I needed to be not only her mother, but her voice, her advocate, her warrior... I needed to get her all the things I could to help her fight. So the months that followed were filled with research and devising a plan of action. What therapies were needed? How do we get the best ones? How were we to balance our existing life of work, taking care of a household and a young son with Bella's needs? Soon the calendar became filled with physical therapy, occupational therapy, speech therapy, hippotherapy, more therapies than I ever knew existed. We learned a new language, we learned about the medications Bella needed and we started our new routine. It was bumpy and frustrating and at times it felt so completely overwhelming and it was lonely. We were no longer one of the many, we were one of the few. Our reality became completely different than our friends and others in our lives. It was at this time that I realized I needed to reach out to others in the same situation. I needed to reach out to other Rett families. It was by far a turning point for me and reflecting now, it was the best thing I could have done. We were embraced immediately by this community, other Moms and Dads, Grandparents, sister and brothers of Rett Angels and suddenly, I felt less alone, less different. Over the course of this year I have met some of the most amazing people I have ever met in my entire life. These women (I say women because that really is the majority of who I interact with, but it does not in ANY way discount the husbands, fathers, and other members of families I have met) but these women have become such an integral part of my existence. They are a constant source of comfort, understanding, inspiration and pure, true friendship. For me, as Bella's Mom, it is such a gift to not have to explain myself, to be able to just give a look or say a word and immediately have other Moms know exactly what I mean, without me having to say it. Its not a club I wanted to be in but I am so THANKFUL that I am now a part of it. As the year went on, and the shock subsided some, something amazing happened, we began to see our Bella thrive! We began to see that all the juggling and expenses and constant vigilence was paying off. Bella was making such amazing progress... she went from barely being able to sit up to taking steps while holding our hands, then while holding one hand, to scooting around on her little bike, and as recently as this week, to swimming in the pool at therapy alone with her swimmies and a tube!!! The months I spent crying in the hallway outside the physical therapy room as Bella screamed and whaled during her session were worth it!! Worth every second..to see the pride on her face as she swims around. To know that now at physical therapy all you hear are her giggles as she works at climbing a stair or two. With time, I have accepted that our milestones are different..but I also have learned that our reward is just as sweet and dare I say perhaps even sweeter than those I had expected before Bella was born.. to catch the rare "Ma" or "Da" or "Yeah"..it is just priceless. We all sort of look at each other and say "Did you just hear that??"..as Bella sits there and smiles. Over this past year we have learned so much about our daughter, who continues to patiently wait for us to understand. We are finally catching on to her ways of communicating with us. She is so incredibly smart and has worked so hard at educating us as to what she needs and what she is feeling. Our reward?? Well, its that one in a million, one million watt Bella smile. Ahhhh.... it never, ever, ever loses its effect. To say I have changed over this past year would be an understatement.. everything I have ever believed in has been tested. Someone once said that "my soul was changing" and I believe that to be true. It has been a forced change, that is for sure, and it has been painful, but it has been for the better. I can honestly say that I truly know what is important in this life and this is not lip service, I believe it with everything I am... it is not how much money you make, or what kind of car you drive, or what clothes you wear, or what your job title is, or how many vacations you go on, or who has more than you... there is absolutely nothing more important in this life than family, MY FAMILY.... my husband, my daughter and my son, first and foremost, without reservation, 100% unconditionally, are the MOST IMPORTANT thing. They are what I live for. I am nothing without them. And I know that I will move Heaven and Earth, I will claw and scratch and fight to make sure they are safe, happy, healthy and feel loved. If I can do that, then and only then will I be successful. I have said it before, but I will say it again, Bella has given us the gift of perspective. She also has shown us the good in people, the generous, caring, loving goodness in humanity. From family to absolute strangers, Bella has had a positive effect on everyone who comes in contact with her and I could not be prouder. I always say she brings out the good in everyone she touches. We have seen how united our family and friends have become in this fight. And in all honesty, sometimes the support and love and genuine caring has come from the least expected places, from people who had either been part of our lives in the past or had just briefly passed through..and then, of course, there are the constants, those who have always been here and who have never left..who have only loved us stronger, held on to us tighter, who have laughed and cried right alongside us, who have never waivered. To say we could have never made it through this year without them would be an understatement. We have a long road ahead of us..and I am learning that the key to survival is pacing. I am learning that it is an up and down ride, that there are waves that will continue to throw us for twists and turns. There will still be days of grief, saddness, fear, joy, and hope, and that each must be acknowledged to get through. I am acutely aware that it "takes a village"..and that we have more than a village, we have an ARMY. Bella's Army. This year has also illuminated something I always knew,from the day I fell in love with him...that there is no better man, partner, father or husband than mine. He has endured so much this past year and has always managed it with such grace and patience and quiet strength. It hasn't been easy..its not easy on either of us alone, nevermind as a couple. But he has given everything he has to our family, to our marriage and I could not imagine any greater partner in this fight. His unending love for his children, for his Bella, is breathtaking. I am so grateful he chose me. What will the next 365 days hold.. that remains to be seen.. although I have some pretty high hopes and some crazy mad determination that it is going to blow this past year away. Bella starts the clinical trials in September/October, research and trials are popping up all over the country and the world.. the race to a cure is on, it is relentless and those involved will not stop until its done. As I am writing this, the World Rett Conference, yes, by world, I mean people from all across the globe, are meeting in New Orleans to discuss the breakthroughs in science, what the research is showing and all the ways they are fighting this demon. I will most definitely keep you posted on what I find out!! Bella will start school this summer and I know she will just love being around other children and will continue to thrive and make HUGE strides..lauging, giggling and stealing hearts along the way. Well, Rett Syndrome, we made it, one year down and though you might have thought you got us pretty good, we are still standing. In fact, we are stronger, we are re-grouping and we are coming for you..there is no place to hide.

A New Year.. New Hope

At long last I am sitting down to update this blog and to update all of our friends and family about our Bella Kai's journey. I haven't posted since November and I have missed it for sure. This may be a long one, so pour a cup of coffee or tea, and if you have the time, read on about the many happenings over the last few months.

When I last posted we had just received the results of Bella's "swallow test" and thankfully it showed that her swallow function was perfect, no issues, no need for alternative feeding methods and Miss Bella could go on devouring all of her favorite foods. Which she has done, with a vengeance. She last weighed in this month at a whopping 31 lbs! Her doctors are very pleased with her weight gain and the muscle mass she has developed. The two vitamin supplements she takes 2x a day have no doubt helped her grow stronger.. especially in her legs.

Bella has continued a very, very busy therapy schedule. She has physical therapy 2x a week, horse therapy, occupational therapy and speech therapy once a week. She continues to work very hard at each of these. It is sometimes hard for people to realize how much work it is for Bella and Rett girls to work at the things other children, including her brother, Zackary take for granted and find so simple to accomplish.

Her PT sessions have concentrated on getting Bella up on her feet, to gain her balance and confidence and working so hard for her to take those first crucial steps. Bella was casted for braces for her ankles and feet. The braces are designed to strengthen and straighten her tendons in her feet as she has very very low muscle tone there. It has been part of the reason she struggles to walk. I kind of liken it to trying to walk on stilts. Very little support. She got her braces a few weeks ago and we have seen a remarkable difference in her progress. The braces are giving her the stability to stand. And I am VERY PROUD to report Bella has taken her first steps holding only one of our hands. I can't explain what it felt like to look down holding Bella's hand and to have her take a few steps along side of me. Truly something to see. And she is so proud when she does it. Her face just glows.

Just this past week we were able to catch her on video standing unassisted for about 10 seconds. Now that doesn't sound like much, but it is a HUGE milestone. We have begun working with Bella using a walker now. She has taken to it well and it is our hope that this will be the catalyst to get her to be confident enough to start taking her steps unassisted. It is sometimes difficult to watch when we work with her because it is very obvious how hard it is for her to make her body do what her mind so desparetly wants it to do. You can see the determination in her eyes as she basically "wills" herself to move. My heart is usually a combination of so much PRIDE and a bit of heartache too. It is hard to watch her struggle.

Horse therapy is still, by far, Bella's most favorite thing. As soon as we turn into the driveway of the stable she starts to smile. She rides "Pumpkin" each week and she is a natural horsewoman. She does so well that the physical therapist wants to have Bella start to learn "trotting"! Can you imagine?? Its an amazing therapy and the joy it gives her is remarkable. Everyone in the family wants to chip in and buy her a horse...much to the dismay of my husband who has no desire to "muck" the stalls each morning.

Occupational and speech therapy seems to be our toughest road. The emphasis is on helping Bella find ways to communicate her wants and needs. It is a long, slow process. I have to remind myself that she is only 2 1/2. We have time and we are on the right road, I just wish it was a little less bumpy. A lot of Bella's frustration remains in her inability to express her feelings and needs to us. When you look in Bella's eyes at any given moment you can see a sea of things she wants to say but the words remain off shore, out of reach.

Over these few months I have seen Bella grow and mature in a way which surprised me. She plays differently now, is more interested in toys and her favorite cartoons. She laughs at jokes and moves and grooves to her favorite show "Fresh Beat Band". We have always known that Bella's receptive language is very high, but lately it is so abundantly clear that she hears and understands EVERYTHING! I have always thought that this is the cruelest part of Rett Syndrome.

In December Bella was seen again by Dr. Omar Khwaja at Childrens Hospital in Boston. He remarked again at how healthy she looked and how strong she had gotten. He was visibly pleased with that. And believe me when I tell you, Bella was putting on a show that day...giggling and smiling at Dr. K. He actually laughed and said she was quite "cheeky". Dr. K is from England and it was hilarious to hear that. So now she is my Cheeky Monkey.

Over the last few months I had noticed a bit of odd behavior by Bella which made me a bit nervous that perhaps she was having increased seizure activity. Before Rett Syndrome my definition of a "seizure" was what you see on tv... someone dropping to the floor and flopping their legs and arms. That understanding of what a seizure consists of is absolutely WRONG. There are so many kinds of seizures.. some that last only seconds and are almost impossible to detect if you don't know what you need to look for. I try to balance keeping Bella under a microscope with letting her be a little kid, but I am petrified of what uncontrolled seizures can do to her. So I always err on the side of getting her seen by her neurologist. I described what I had been seeing and he had enough concern to schedule Bella for another EEG. This time a 6 hour EEG done at Rhode Island Hospital. This way "if" anything is occurring at least we can be on top of it. Bella had her EEG on January 17th and in usual style she was a trooper. Giggling and smiling with her head all wrapped up in gauze. Personally I think she was loving having Mommy and Daddy all to herself without Zackary fighting her for our attention. We have not received the results yet but I am viewing this as preventative medicine. I just want to know I haven't missed any opportunities to keep her healthy.

Seizure control and therapies are such an integral part of what we do to manage Rett Syndrome in Bella's life. But there are some things we just can't do anything about. Those are the things that make some days a challenge. In order the "uncontrollables" that I struggle with the most are, mouthing of everything she picks up, teeth grinding, constant hand movements and body movements in general, body rocking and biting/head banging. I just want to be able to wave a wand and remove all those chains from her. But I can't, not yet.

However, I think it is important for everyone who knows Bella or reads this blog to understand what a happy child she is. Looking at Rett Syndrome on the internet and not really having much interaction with a girl with Rett, it may be hard to understand that. But it truly is one of the most amazing things. Most days Bella wakes up happy, giggles and plays, listens to her favorite music, eats her favorite foods and cracks up at her brother's antics. She is a loving sweet hearted angel. This is truly a gift for us...because the fact that she is happy and content most days, helps when we have one of "those" days. When we have one of "those Rett days", that day can feel like 10 consecutive days. It is draining, physically and emotionally. So when its over and the giggles and smiles reappear, it is like a re-set button. We get up, dust off and move forward.

As for me, well, I have those "Rett Days" myself. A little less often than I used to, but I do have them. The holidays brought with them hurdles that I had to get over. It was after all the "first" holidays we have had since Bella's diagnosis. One of the traditional joys of Christmas is seeing the joy in a child's eyes when they watch as their house is transformed into a Christmas wonderland, as the tree goes up, when they see Santa or sing carols or get that most desired toy. When I was pregnant with Bella, my first child, I dreamed about all of those moments. However, those are now lost dreams, dreams I had to grieve for in order to accept the new dreams, which can be just as wonderful, to enter my life. And so, even though it was through some tears, I did transform our house into a Christmas wonderland and was committed to doing so with no expectations of how Bella would perceive it or react to it.

It was a similar challenge with getting her the "perfect" gifts. I wanted so badly to get the gift that she would light up to have, that would cause her to scream with delight, to cause her to say "Oh Mommy, I wanted this so bad". But again, I had to let go of those dreams. It was not easy to walk through the mall or toy stores, knowing I could not buy her age appropriate things, such as barbies, or princess dolls with tiny shoes and tiaras...only to have her put them in her mouth. I couldn't get those cool arts and crafts kits which again could be a danger to her. So again, I washed those old dreams out with a healthy cry and put my thinking cap on... what makes my girl happy... music, horses, books, blowing bubbles... I started searching website for adaptive toys for special needs children and it was amazed at what I could find. So again, a new kind of excitement began and the realization that new dreams would and could find us.

I worked hard at having absolutely no expectations for Christmas Eve or Christmas morning and let me tell you what happened... I was the one who received the BIGGEST BEST gift of all. Bella had an amazing time, and absolutely positively knew there was something special about the day..she was excited and happy and giggly and silly! She enjoyed having her family with her round the clock, she enjoyed opening gifts, it was just perfect. A bona fide Christmas miracle for me. And a very important lesson..my dreams are not lost, they are just new and not in the shape I thought they might be. But it doesn't make them any less wonderful. In fact, some of my new dreams may be even better than what I had originally hoped for. Only time will tell.

Speaking of time, as New Year's Eve rolled around I felt an overwhelming need to just skip it. Let 2011 fade into the darkness quietly..I wanted it gone, done, over. A year like no other. A year of unimaginable heartbreak and pain, a year that had the most profound effect on my life than any other before it. A year that irrevocably changed me, for better or worse or maybe a little of both.

At midnight, it was about closing that chapter in our lives. It was about knowing in my heart that 2012 is going to bring miracles. That "someday soon" our Bella is going to be released from the chains of Rett Syndrome. It is about believing and having faith in the countless brilliant minds that are dedicating their lives to finding the answer. It was about new HOPE, new DREAMS and a fierce determination to do whatever I have to do to make sure Bella stays the happy, smart, beautiful, sweet, angelic girl I gave birth to.