CDKL5 Disorder Causes Two Year Old Harper To Have Up To 20 Seizures Per Day

My name is Harper Elle Howard and I was born April 12, 2010. My family often times calls me Harperpotamus after the Christmas song, “I want a hippopotamus for Christmas.” My story is only 27 months long but my experiences are many! I have traveled to Boston Massachusetts, San Rafael, CA twice, Orlando Florida, Minnesota, Houston, Fort Worth, and over half a dozen times to Austin/San Antonio Texas. Why? Because my parents are trying to figure out how to help me overcome my severe developmental delay and stop my seizures.

I have an extremely rare and in some cases life threatening genetic disorder known as CDKL5 disorder. There are fewer than 300 diagnosed cases worldwide. Infantile Spasms is the type of seizure I developed with my disorder. These spasms are brain-damaging seizures which, I have been told, will eventually stop by the time I turn age four. However, not only will the damage to my brain be done, I will then develop different types of seizures that are not as damaging but still make it difficult to learn.

Disappointingly, the ACTH (Adrenocorticotropic hormone or Acthar (ACTH) is a drug that contains the hormone adrenocorticotropin) treatment I tried prior to age one was ineffective, causing me a great deal of additional health problems. Nine months after I stopped treatment, I finally returned to “normal.”  Since that time, I have tried a number of various anti-epileptic medications, none of which have worked to stop my seizures.

I currently take a total of sixteen pills over the course of four times per day. I still have anywhere from four to over twenty seizures per day lasting as long as five minutes at a time.

Some  of my seizures are more painful than others. Although the seizures confuse me and sometimes hurt, my family is ALWAYS right there with me as I come in and out of awareness during them.

My seizures have delayed my abilities severely, but I comprehend more than you might think. It takes me longer to process your words but given adequate time I will show you I understand. I have therapy multiple times per day, including; Yoga, Aquatic, Vision, Orientation and Mobility, Communication and Movement Therapy. With all this therapy I am getting stronger, but it takes a great deal of physical and mental effort for me to “play.” Although my progress is slow it is there and for that I am thankful.

Although I struggle, my life is good! I am well cared for by supportive family and loved by many friends – some of which I do not even know. My big sister, Lily, is my world! I love her and desperately wish I could tell her that. I know I’m not the sister she thought she would have, but I hope she sees my love for her when she looks into my eyes!

I really enjoy playing with beads, the shinier the better! I also enjoy music and lights; whatever toy combines the two is the best one invented!  I love the outdoors, especially with Petey, my dog who enjoys looking out the window with me.