Together We Will Fight: An Update on Ava and her CDKL5/Atypical Rett Syndrome Diagnosis

May 29, 2013

My name is Ava; you might remember me from my last guest post about the long and exhausting road I traveled to find answers about my rebel genes. It has been a little over a year since I received my CDKL5 Disorder/Atypical Rett Syndrome diagnosis and my mom has been very busy. She has been familiarizing herself with various CDKL5 communities that exist including doctors, researchers, foundations and support groups.

Lucky for me, the first CDKL5 Center of Excellence has recently opened in my backyard at Children’s Hospital Colorado, as an extension of their Rett Syndrome Clinic that was formed through a partnership with the Rocky Mountain Rett Association in late 2011. Rett Syndrome is a better known genetic condition than CDKL5, and they have many overlapping symptoms that scientists are trying to better understand. The clinic provides comprehensive care with more than 15 specialists visiting me in one afternoon, in one room. It also allows the families in the clinic that day to bond with one another. Me and my family couldn’t be more pleased with the care I currently receive despite the diagnosis we live with each day combating.

My mom has met many lovely new friends that have experience with the same rebel gene as I do. This led to her advocating on-the-go for World Rare Disease Day 2013. She was fortunate enough to travel to New York City and spend the weekend with nearly 30 other CDKL5 moms from around the world! New Zealand was the farthest country represented, and there were moms from the UK, Ireland and Canada too. They bonded, played very hard, shopped a tad and spent a few hours in the cold waiting at NBC Studios to appear briefly on the today show. Mom said it was an experience she’ll forever cherish; laughter, love, tears and joy were in abundance.

I have been busy finishing up my first grade school year and working on many modalities of communication. My favorite part of the week is the couple of hours I spend with my friend Deputy, my hippotherapy horse. I work with both a physical and occupational therapist on him; he has been the most motivating therapy tool to date. I also placed third in the 50M Walk at my Special Olympics event recently. Life is hard, but life is good.

The International Foundation for CDKL5 Research has declared the month of June as International CDKL5 Awareness Month. We are excited to spend the month spreading awareness globally. Eight years ago, Professor John Christodoulou led an Australian research team that studied the DNA of three children from the same family and found a common genetic abnormality occurring on a gene that would later become known as CDKL5. His research was published in the prestigious journal, The American Journal of Human Genetics 2004.

I am particularly looking forward to June 17th, 2013, because it has been designated the first CDKL5 Awareness Day. The date was chosen to honor Glyn, one of the three children at the focus of Dr. Christodoulou’s study. Glyn’s legacy was in his DNA, which helped the scientists to begin to identify what we now refer to as a CDKL5 Disorder. Unfortunately, Glyn passed on before his disease-causing gene was discovered, but his tragic, short life had an important impact on us, the children who have since been diagnosed with the same devastating disorder.

Together we will fight, together we will win! Hope, it’s in our genes.

Hope* Love * Cure CDKL5

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