Miracles Take Hard Work

We can all fondly remember some of the best moments of our life, like a wedding, graduation, or the birth of a child. I will never forget the feeling of meeting Maxwell and Riley for the first time. I didn’t know a human heart was capable of that much love. At that moment, my entire life’s focus became my family. I no longer cared about my career, current events, or even a really bad haircut. I would joyfully give my life to protect them. My prayer to God is that they grow up to be healthy, happy and fulfilled adults with every opportunity life can provide.

Early on, I noticed that Maxwell wasn’t progressing at the same rate as Riley. It was so strange but he wouldn’t use his hands to grasp toys or even explore. Well-meaning friends and family would tell us that boys are slower than girls and every child develops at their own pace. My gut told me something wasn’t right. I was frantic and suffocating with fear inside.

My worst fears were confirmed on diagnosis day. Mark and I were led into a sterile and cold room at Children’s Hospital and sat before a group of doctors with solemn faces. Genetic testing revealed that Maxwell had a rare neurological genetic disease with only 34 confirmed cases in the world. It didn’t come from Mark or me, it just unfortunately happened.  It’s entirely unfair and a testament to how dark and cruel this world can be.  Maxwell will have intellectual disability as well as a movement disorder, may not speak and will develop a devastating form of epilepsy between ages 3 and 4 at which point he will regress. Nothing could be done. Accept it. It was the darkest moment of my life. It was a parent’s nightmare.  It was too much to digest in the moment and even too much to digest now.  I realized that Maxwell’s future was not as I imagined when I held that sweet little baby in my arms.

Diagnosis day was 4 months ago. Since that day, I have spoken to 97 scientists from all over the world to decipher the best path forward. I survive on 4 hours of sleep, coffee, and cold pizza. I have sent baked goods to researchers that wouldn’t return my calls until they felt compelled to thank me for the gifts. I have attended conference after conference, met with officials from the National Institute of Health, the Federal Drug Association, and other government agencies.  I am focused on the cure and we now have a path forward.

Throughout my research, all roads led back to Dr. Stephen Gray at UT Southwestern. Dr. Gray develops gene replacement therapies. Gene replacement isn’t a daily drug, it is a once and done solution where a good copy of the gene replaces the bad copy of the gene. I have personally met some of the children he has saved. I am proud to announce that our foundation is officially working with Dr. Gray to develop a gene therapy for Maxwell’s disease. We are in a race against time and our goal is to develop a treatment within the next 18 months. The opportunities I long for Maxwell to have are now within arm’s reach.

The path ahead will not be linear and we are trying to mentally prepare. There will be big hurdles both emotionally and financially. In this moment, I take solace knowing our miracle is underway.  Miracles take hard work and Maxwell is worth it.

Maxwell and Riley’s mom

 

Rare Love

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