Hope

First off I want to say "Thank you", to each of you for your support and encouragement throughout our journey. It warms my heart to know that there are so many people who care about us and are willing to offer help in any way they can. Not only does it confirm that all of you are amazing individuals, but it reminds us on a daily basis how blessed we truly are and that we are never alone in this life.

Journeys are taken one step at a time and when you're facing any challenge it is good to remind yourself of that fact. Each day is a new day and I'm a strong believer that when you wake up every morning, you have the opportunity to decide how you're going to approach the world, what attitude you will carry, and if it will be a good or bad day. None of us know how long we have left, so why waste any time feeling sorry for ourselves or approaching life with a negative attitude?

Surrounding yourself with supportive and loving friends and family encourages a positive outlook on life and fosters a sense of happiness that is very difficult to erode. This journey has proven to me that we've been successful at that. Each of you have made us successful at that and so I thank you for your positive attitudes and compassionate, empathetic words.

I know that many of you have specific questions about Xander and his pending diagnosis. I've tried to include specifics here and there, but the main purpose of this blog is for me to process my feelings and share with you our journey in a way that is open, honest, and frankly, therapeutic for myself. I don't like to saturate my feelings with all of our individual specialist appointments and therapies, because this is a place for me to look at the big picture, the meaning behind our journey, and my purpose in it.

This past week has been strangely comforting. I've had some reactions that I would have never anticipated as a result of finding a place in the madness we've called life for the past year. One of those reactions has been a strong sense of motivation to make myself a stronger and healthier person. I realize that being a mom is draining enough, but when you couple that with the reality that you will need to be strong enough to physically and emotionally care for one of your children into their adult life, you feel a need to make yourself more of a priority now so that you can maintain your well-being in the future. I also feel that many times when people are faced with tough situations in life, this is the first area to get neglected. People get depressed and feel like there is no hope and they quit focusing on their health and happiness and put that energy into worry and fear, which doesn't do anyone any good and ultimately harms themselves and those around them more than necessary.

So, I'm motivated. Motivated to eat better, stay strong and healthy, and continue to make time for myself so that I can be a positive roll model for my family and we don't fall into the cycle of depression and self-pity.

Another emotion that has continued to make cameo appearances this week is hope. Not a hope that our situation will change or we will find a miraculous "cure". I'm in no way living in denial about the big picture. But hope that Xander will teach us so much more than we will ever realize.

When we found out Xander was going to be a boy, all I could focus on was how wonderful it would be for Cole to have a brother so close in age. I imagined the bond they would share and the trouble they would get themselves into. The adventures they would take and the sports they would play, side by side. One of the toughest parts of this journey has been trying to imagine how Cole will be impacted by our new reality. I fear that he will at times feel resentful. As he grows and realizes that Xander doesn't play like the brothers and sisters his friends have, I know that I am going to have to answer tough questions posed by an innocent child. These things and so many more scare me, because I'm not sure how I'm going to keep it together and try to comfort him when I, myself, have trouble justifying it.

But, after a brief moment of that gripping fear of the unknown, hope returns. I remind myself that Cole will never know different. He had no expectations of what life would be like with a sibling and Xander is all he knows. They already share a strong, loving bond that I see everyday in ways that might not be typical of two normal siblings, but ways that are nonetheless comforting and loving. Then I think how Xander will make him a better person. He will teach him compassion, especially for those that are different from himself. He will teach him to look at the world through eyes of joy and not to judge others. He may teach him even more valuable lessons of inclusion and humanity than Cole would have ever had the opportunity to learn otherwise.

So, as these feelings and others ebb and flow, I keep focused on what we do have control over and that is our attitude and energy for life. From my perspective, facing the day with a smile and a desire to see the good in all we encounter is the best way for our family to approach this world. And that is something Xander can help teach us all.

FREEDOM

Mowat-Wilson Syndrome, aka "MWS"

After all of our searching and the last 14 months of endless questions with no answers, this is where we arrive and I feel free. 

It's hard to describe how, as a parent, a diagnosis can be freeing even if it is cementing your fear that your child will forever be dependent on you for their most basic needs, but it is. 

On Monday night, after I tucked my two wonderful boys into bed and headed downstairs to go through the mail, I realized the envelop from Children's Hospital Oakland was not the paperwork needed to be filled out for our upcoming appointment with the Developmental Pediatrician, but actually the report from our appointment with the Geneticist that we had had about 2 weeks earlier. I anxiously read the document, shocked at how each physical feature of my child was evaluated, right there, in black and white. There must have been 5 different categories for his nose, ears, facial shape, etc... and each had a check after it, N for normal, AB for abnormal. The abnormal features were followed by short descriptors.

Initially, as I was reading through the comments, it seemed so harsh to evaluate and judge someone in such a raw and unrestrained manner. There were things commented on by the doctor that I had never even considered different about Xander. Features that I find very endearing, here, were described as abnormalities or faults if you will. As a parent, it's hard to look at your child, regardless of the circumstances and acknowledge the faults in them. In a way, the report triggered a desire to stand up and fight for him and argue that he is wonderful and perfect just the way he is and who are these people to place judgement on him and point out all of the things about him that aren't "normal". 

But, that urge quieted as I reminded myself that this was the purpose of the appointment - answers is what we were looking for and in order to get answers, we needed someone who could look at Xander's entire medical history, his physical features, and his developmental challenges in an unbiased way and try to come up with a logical explanation. No matter how harsh and raw the judgement felt.  

So, I continued to read and after all of the "pass/fail" categories were completed, two possible syndromes were mentioned by name that seemed to best fit with his evaluation. One was Kleefstra Syndrome. This is the one I discovered in my many Google searches over the past year. I had researched it and studied it and brought it to the attention of every doctor, so I knew this was a possibility  It was no surprise. So, I focused on the other syndrome. The one I had never read anything about. This new possibility  Mowat-Wilson Syndrome. What, I asked myself is that? So I started to google and facebook and search blogs. 

I've heard from other parents who've had kids with undiagnosed conditions that there can sometimes be an "ah-ha" moment. When everything falls into place and makes sense. Sometimes it comes when you meet another child with similar needs, for one parent it came when they walked into a doctor's office and saw a picture of "their child" on the cover of a magazine that was describing rare disorders. For me, it was the third post down on the Mowat-Wilson Syndrome community Facebook page. 

A parent had posted a video of her 18 month old son. I clicked on the video and started crying. I don't know how to explain it other than it was Xander. The child looked just like him, played by rolling side to side and scooting his knees under him to try to creep like him, sounded like him, and made the same small hand gestures as him. 

For the first time since we started seeing specialists at 3.5 months of age, I feel like he fits in somewhere. There are kids just like him - granted there are only about 200 diagnosed cases in the world, but they are there and we found them, and we aren't alone anymore. And that, for me, is freeing.