Karen Utley

@karenutley | contributor
Karen Utley is the president and co-founder of the International Foundation for CDKL5 Research, a patient advocacy organization. Her daughter received a diagnosis of CDKL5 Deficiency Disorder at the age of 20 months. Upon diagnosis, there was no information about this debilitating disorder. She and 6 other moms combined their strengths and talents to ensure no other family would receive this diagnosis and feel lost and alone. Her experience in rare disease has led to collaborative efforts to improve knowledge, patient care, and advocacy. Through years of watching her daughter suffer from seizures, apraxia, gastrointestinal issues, and many other health challenges, Karen has developed a passion for science and healthcare. She is pursuing a Bachelor of Science in nursing, as well as continuing to educate herself in advocacy and leadership in the non-profit world.
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Karen Utley

How Knowledge About Seizures Can Help End CDKL5 Epilepsy Stigma

Most parents relish in discovering new things about their child, from the moment they exit the womb. They want to know what their child will look like, what they will do, what foods they will like, and who they will become. A good parent treasures these moments, but what happens when those new discoveries evoke fear and anxiety? Fourteen years ago, I experienced something that no one wants to experience: my daughter Samantha’s first seizure. I will never forget the fear I felt when I saw her tiny eyes roll back into her head and her infant body shake uncontrollably. I had never seen a seizure before, but I knew that was what it was. This episode only lasted about 10 seconds, but it felt like a lifetime. That 10 seconds was the beginning of a journey toward CDKL5 deficiency disorder diagnosis. CDKL5 is a rare developmental epileptic encephalopathy, otherwise known as a disorder that causes severe developmental delays and epilepsy. This diagnosis was heartbreaking…but it also provided some motivation to spread awareness and help eliminate the stigma surrounding developmental disabilities and epilepsy. As Samantha grew, her seizures changed. They became longer, stronger and began to require rescue medicine. In the beginning the fear was paralyzing, but then it somehow became part of our normal. Now, 14 years later, as much as I hate to admit it, the fear has changed to tolerance. But please do not misunderstand: I still hate every seizure. That part hasn’t changed. However now a 5-minute seizure no longer feels like a lifetime. In fact, it feels short in comparison to the common 7- to 10-minute seizures that occur. The original fear morphed into a lesson of acceptance and a new way of life. It was our family’s new normal. We forgot about our fear, and we lived our lives. This life included facing all the challenges associated with CDKL5, including gastrointestinal problems, impaired hand use, delays in all motor skills, lack of communication and many other issues. However, it seems that, when it comes to the impact on others, the seizures seem to evoke the most stress, concern and physical reaction. One day, we were at an event for Samantha’s older sister, Kaylee, and several of Kaylee’s friends were there. Late that evening, as we were saying our goodbyes, Samantha had a seizure. Kaylee set a timer on her phone to help me track the time. Next, she grabbed the VNS magnet, which activates an implanted device that helps control seizure activity. Kaylee handed me the magnet as I tried to get Samantha into a safe position to protect her head and airway, as well as ensure she could not injure herself. We were going through procedures that we perform almost every day. I took Samantha to the car, and I told Kaylee to take her time saying her goodbyes. Having never seen a seizure, one of Kaylee’s closest friends became very emotional after I had left. On our way home, Kaylee burst into tears. I asked her what was wrong. She replied, “Am I cold? Am I uncaring? She said I was, because all I did was start a timer on my phone, get the magnet, and I didn’t even care that Samantha was having a seizure. She said I didn’t cry or anything.” I pulled the car over on the side of the road, realizing that even though this seizure was not shocking to us, it was extremely shocking to the new friend. I turned to Kaylee and said, “You are NOT cold and uncaring. You did exactly what Samantha needed you to do, because you have learned the importance of timing a seizure, using the magnet, and making certain she is safe. You were calm and level-headed. That does not equal uncaring.” I asked Kaylee if she remembered how she felt with the first seizure. I explained that her friend was where she was back then, and there was no way this friend could understand how Kaylee felt after witnessing hundreds of seizures. I told her I was sorry that I wasn’t there to explain this to her friend, but I would talk to her. This seemed to reassure Kaylee and help her to know that she was a loving and caring sister. The very next week, Kaylee had other friends over, and Samantha had a seizure. Again, Kaylee sprang into action, assisting me and doing what needed to be done to help Samantha. This time, the friend went home and told his mother how amazing Kaylee was. He said Kaylee was brave and knew exactly what to do. He was quite impressed. When his mom shared this with me, I couldn’t help but see the irony and the lesson of personal perspective. These two contrasting experiences between Kaylee’s friends changed the way I viewed my responsibilities regarding others when it comes to seizures. I started educating our friends and guests on the possibility of a seizure and what to expect if one occurs. When we fly, I inform the person sitting next to us about her disorder and answer any questions they have. This helps me raise awareness, and it has also helped greatly in easing other peoples’ fears about seizures. This is part of the stigma that knowledge can and will end. Epilepsy is not anything to hide or be ashamed of. On the contrary, it needs to have a light shined on it. The basic care of the person having a seizure needs to be taught. By sharing epilepsy stories and seizure safety, we create a personal connection with epilepsy, and we can change public perception. Hopefully, this can lead to a world without this stigma.  

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Karen Utley

The Only ‘Definition’ That Matters When Your Child Has a Disability

We spend much of our lives defining ourselves. We are mothers, we are professionals, we are wives, we are bold, we are timid, we are… the list goes on and on. Not many parents expect to have a child with a disability, yet many of us end up in this category. When I was pregnant with my second child, I had hopes and dreams for her. Like all parents, I wanted her to discover her talents, serve society in a positive manner, and lead a fulfilling life. My story of becoming a parent to a child with a disability is not much different than other stories. My daughter was born on October 17, 2006, and she appeared to be perfectly healthy. However, when she was about 10 weeks old, I observed some twitching and jerking that did not seem normal. I called the doctor, even though it was Christmas Eve. He returned my call, assuring me these movements were normal and due to her developing nervous system. Unfortunately, over time these symptoms increased in intensity and frequency, which led us to our first ER visit. I breathed a sigh of relief when all the tests were normal, and the doctors assured me Samantha was meeting milestones and developing appropriately. However, this quickly changed as the seizures increased, wreaking havoc on my precious girl. The doctors ran countless tests and did not find any answers. Suddenly, I was redefined. I became a researcher scouring the world wide web for any information that would help my child. Not only was I a researcher, but I was also now an advocate. I knew the doctors cared, but this was not their child. Instinctively, I realized I knew her best, and would recognize her symptoms in a way doctors (in their short) visits never could. About one year after the first ER visit, I found a test that fit my daughter’s symptoms and asked the doctor to order it. In 2008, genetic testing was very slow, but five months later, on July 2, 2008, they diagnosed my daughter with a mutation on her CDKL5 gene and believed it to be the cause of her condition. Once again, I was redefined. I was now part of the rare disease community. Immediately, as a parent, I sought a definition for my daughter. I asked, “What does this mean for her? What will she be able to do? Will she walk or talk?” Fortunately, I had a brilliant epileptologist who gave me the best advice by saying, “Do not let anyone tell you what your daughter will or will not do. Learn to accept her true limitations, but the only way you can learn what her true limitations are is by encouraging and pushing her.” He wisely chose not to define my daughter. Instead, he encouraged me to allow her to define herself. Now, being defined as a CDKL5 disorder parent, I started looking for disease specific answers. In my search I found a Yahoo email group for this diagnosis. There were only a handful of families world-wide. Even though we were few in number, we had a common goal of wanting better for our children. Six other moms and I started an organization, the International Foundation for CDKL5 Research. Through this effort, we created a community—a family. Because of this, no one receiving this diagnosis would ever feel alone again. As a team, we redefined the world for families affected by CDKL5 disorders. Samantha is now almost 12 years old, and I have spent those years pushing her limits, and accepting the limitations when they are obvious. I have loved her through every moment, every seizure, every complication, and every challenge. Through these life moments, I have learned the only definition that matters is the love that defines our relationship. It is unconditional and unending. This love has led me on a journey that is challenging yet fulfilling. Samantha has taught me to look at life through a different lens and to never take things for granted. Her willpower gives me encouragement and determination to keep pushing the boundaries—the boundaries of science, education, government, and most of all the boundaries of small minds. By pushing these boundaries, we will redefine society. This journey taught my family how fragile life can be, so we choose to celebrate every accomplishment and try to live life in the moment. As parents, we can choose to allow these challenges to define us, or we can choose paths that allow us to redefine the situations in which we find ourselves. I hope we continue to choose the latter.