My name is Michelle I am the mother of a beautiful 10 year old girl who has a very rare a gene mutation. The gene mutation she has is called KCNB1 and it is a potassium channelopathy. At this point, little is known about the mutation and its total effects on persons born with it. KCNB1 was discovered in 2014. Very little is known about the mutation and its’ effects, however is has been linked to epilepsy, other seizures, ADHD, Apraxia, Ataxia, learning delays and cognitive development. All of which Gracelyn has been diagnosed with.  I am not one to share such private matters on such a public forum, however, this is important. I feel compelled to use my voice to not only help my child, but help others as well by stepping up on to this platform. As a single mother I juggle a lot and tend to handle things on my own.  Now I am asking for help.  My daughter Gracelyn was born in 2009, seemingly a very healthy child she was happy, active, talkative and strong meeting her milestones on time. She showed no signs of being ill in any way until September 2012 when she fell into a terrible “episode”, during this episode she stopped talking, eating and drinking; the life in her eyes was gone.  We took Gracelyn to the ER at Children’s Hospital and ended up getting admitted; during this time the doctors were baffled and so were we. They did not know what was going on with her and they did not know how to treat her; they kept us at Children’s for 4 days monitoring Gracelyn until she was able to eat again, once that happened they released us. Since they could not pinpoint what was going on or why they chalked it up to being a virus. The next episode occurred in October of 2013 and another in 2014. Each episode was worse than the last, she lost control of her movements her arms would fly out to her sides and not stay down, verbally she would regress to babble, she became unable to perform the easiest of tasks. Each episode would result in ER visits, MRI, CT, Lumbar punctures, blood work all with no concrete answer and perpetual runaround by the medical professionals who were also at a loss. In the ER during the 2014 episode the neurologist who consulted that night referred us to Gracelyn’s current neurologist who is a movement specialist. After our first visit and pouring over Gracelyn’s medical records she was determined to get an answer to her mysterious episodes and the cause of Gracelyn’s daily distress. The plan was to do a host of blood tests and if that also turned up inconclusive then a test of all her genes would be done. June 2016 I get a phone call at work with the results of Gracelyn’s genome testing, specifically the epilepsy panel where the KCNB1 gene mutation was found.  Gracelyn was prescribed Lamotrigine which is designed to treat epilepsy in the hope that it could treat the ADHD.  After being on lamotrigine for four years, working super hard an OT and PT therapies Gracelyn was doing a lot better. We found a great school for her that she loves and she doesn’t feel “different” in and has a great group of friends. No more outburst and running away she now loves to do yoga with her schoolmates every week; best of all, no horrible episodes. We thought perhaps she had outgrown them.  But, alas, we were wrong! Summer of 2019 we requested to have Gracelyn taken off meds, by the start of school she was completely weaned off and on December 20th, 2019 Gracelyn went into her worst episode to date, four years after her last one.  We are now reliving this terrible nightmare all over again at Christmas time. Between December 21st and Christmas day we made three ER visits all of them being a nightmarish headache; this time we were met with, “this isn’t an emergent situation” & the sheer inability to think outside of the box or step outside of protocol. We kept trying to get someone that knew her to see her, but we just kept getting sent home. It wasn’t until December 26th, 6 days into this episode and she finally sees her primary care doctor who was shocked that they sent us home in the state she saw Gracelyn in. She was admitted that afternoon. During our stay at the hospital Gracelyn had another MRI and lumbar puncture done they showed no encephalitis or abnormalities. She also had two EEGs performed, one of them overnight.  The EEG’s still just showed an overall slowing of the brain same as before. Her neurologist paid a visit to the hospital and restarted Grace on a baby dose of lamotrigine. She got discharged on December 29th and wasn’t full back to baseline until the weekend of January 10th, 2020.  I did some searching while in the hospital and connected with a great lady whose daughter was the first to be diagnosed with the KCNB1 mutation and started an organization, KCNB1.org. I strongly urge whoever is reading this to visit this site get informed and read some of the stories of kids who live with this every day to varying degrees. Through this site I connected with doctors at Northwestern in Chicago who are passionately researching this mysterious genetic mutation. I have sent all 600 pages of my daughters medical records to them for review in hopes that we can be seen by them and join them and other KCNB1 families at the first ever KCNB1 conference.    I was pouring over information and my own emotions during this time doing a heck of a lot of parent reflection and soul searching. No parent ever wants to see their child in such a state of helplessness and distress. No parent wants to spend sleepless nights in the hospital helping their child with the basics of living because now they simply cannot. No parent and child should ever get turned away because the doctors don’t know how to help anymore.   My hope and desire is to be able to take Gracelyn to the KCNB1 conference. Meet families, connect and share Gracelyn’s story with everyone and be seen by the doctors doing research there. I feel quite passionate about helping my child and helping others by speaking our truth so others don’t feel so alone or lost in their quest for answers. But I can’t do it alone, I need your help. The money I’m asking for will go towards that trip as well has to help pay for the mounting medical bills. We were referred to a specialty doctor that is willing to see my daughter, but is not covered under insurance; he is called a functional doctor and will look at Gracelyn in a much different way than they have at Children's. It may be a great avenue to fill in the unknowns of her diagnosis. As I am a single mom, I do not have any other income to speak of other than what I make on my own. I spent almost every minute of 10 days with my daughter so I did not work, my paycheck was $300.00 for 2 weeks and I am struggling. I know that paying my bills is no one’s business but my own and I don’t generally ask for help unless I really need it.     Thank you for taking the time to read this and if you decide to help out know that it is appreciated beyond what words can say.