I'm looking for an update regarding the pending WES test results that were collected in Oct. or Nov. of 2020.
It was Tuesday, February 23th, 2021 at 11:30 a.m. EST. I was sitting in my home office when I saw the number from the hospital display across my caller ID. I had just sent that email to our geneticist and to say that I was surprised to receive a call so quickly is an understatement.
Honestly, the exact words are blurry in my mind but I can tell you the exact time, date, and what I was wearing when I got the call. The brain is funny like that, isn't it? When we had our consultation in the Fall of 2020 about Whole Exome Sequencing (WES), it was made very clear that 1) it was unlikely there were going to be any findings, 2) if there were findings, they would probably be inconclusive and 3) if there were findings, and they were conclusive, there was a limit to the medical research so information was extremely limited. So, for the next 4 months, I prepared my heart for a strike out. A "cover all your bases" type feeling. Oy. Feeling gone.
Our beautiful, 3 year old son, E, had been diagnosed with an ultra rare disease that nearly no one has heard about. In fact, it is so rare that it did not have a name until 2017. Now, it is known as KIF1A-Associated Neurological Disorder, or KAND for short. The lovely woman on the end of the phone, Rachel, tried her best to explain to me what all, any, of that meant. It meant there was limited knowledge about this condition, that many doctors haven't heard of it, that symptoms can look a lot like cerebral palsy. Rachel told me about a wonderful website, KIF1A.org, that had more information than she could really provide and that we'd see our geneticist...in 2 months.
Honestly, KIF1A.org was a sanity saver. I didn't know it at the time, but that website, and the amazing parents that run it, are walking angels on this Earth (which is a whole 'nother blog post for a later date). I learned a lot that day. I learned how to tell your husband that your child is one of 300 people known to the world who has this genetic mutation. I learned that KAND is progressive, neurodegenerative, and has already taken children before the age of two. I learned what it is like to feel a part of your soul being ripped from you as you read about losing vision, spasming muscles, seizures, intellectual disability, and the loss of walking, talking, and even breathing. I learned not every KAND case follows the same trajectory and there is no way to know the speed of loss. I learned there is no known treatment, or cure. I also learned what it's like to beg God that night.
We're coming up on 5 months post-diagnosis and I can't believe it's been that long already. I have easy days and difficult ones. We are busier now than ever. Physical therapy, occupational therapy, speech therapy, genetics, neurology, physical medicine & rehab, ophthalmology, MRIs, EEGs, XRays, inpatient, outpatient, speech devices, leg braces, walkers, medical strollers, and soon (God willing) forearm crutches. Plus a new perspective on life...
My goal with these stories, MY story, is to shine light on the 25 to 30 million Americans who suffer from a rare disease. It is with the light that brings hope, treatments, and cures. I pray this is just the beginning for our journey- you and me- and that you learn a little more while looking through my lens. A treatment, a cure, starts with awareness, so thank you for opening your eyes and your heart to my journey.