I sat at my computer last night trying to figure out what I wanted to convey today being that it is Rare Disease Day. According to Merriam-Webster, rare is an adjective that means "seldom occurring, or found: uncommon; marked by unusual quality, merit, or appeal: distinctive; Superlative or extreme of its kind. Then the quote by Dr. Seuss popped into my mind, "why fit in when you were born to stand out" and the thoughts in my mind began to get jumbled and that feeling that tends to reside in my heart was a little more noticeable.
In 2004 the CDKL5 gene was first identified, and it was originally known as STK9. By 2015, the year we began this whole excursion down this funfilled path of what it means to be rare, there were approximately 600-1000 children diagnosed worldwide with a CDKL5 mutation. At that time it was a brand new baby in terms of scientific studying. Information regarding the prevalence and occurrence was hard to come by. Research and another 4 years has led to more awareness and more diagnosed children. Although rare, the occurrence is believed to be ~1:40,000 -60,000 live births, making it one of the most common forms of genetic epilepsy. Currently, there are two children diagnosed with CDKL5 each week.
I need to take a moment myself to swallow that statistic. That means this week there are two more seemingly healthy babies who will begin seizing before they are officially considered developmentally behind for not presenting with a social smile. That means there are two more sets of families who will have their entire world flipped upside down in a way they are never going to fully ever comprehend. That means this week two more families will find themselves on an unknown journey that they never even knew was a possibility to embark on. That means our CDKL5 family is growing, but it also means that eventually, that is another family that will one day have to face a life without their precious child.
What exactly does it mean to be rare? It means to me as a parent there is a responsibility to try and make this statistic look a little different in another 4 years. It means that we need to continue to raise awareness and get more potential life-altering remedies so that these two children who are diagnosed each week will begin to hear the words, "your child has CDKL5, BUT this is what we can do to help". It means that we need to spread awareness so that ALL the children currently living with CDKL5 are given the BEST QUALITY OF LIFE POSSIBLE. It means that we need to spread awareness so those children with CDKL5 mutations whose bodies had suffered too many seizures among other difficulties did not leave this world in vain.
So today, for all of the children diagnosed with CDKL5 and for those who will be tomorrow, show you care, and spread what you know about rare...who knows, maybe one day (soon) we will look back on this moment in 2019 "when CDKL5 was once known as rare".
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