CDKL5 Spotlight on Penny

It’s time for another CDKL5 Spotlight! Meet Penny! Her mom, Brittany, shares about her special girl!

“Penny was born on December 2, 2015. It was a planned pregnancy with no complications. Delivery went well, and needless to say, my husband and I were so excited to have a little baby in our home. We were in a full on euphoria state. A few days before being two months, Penny was already holding up her head and rolling over. At her two month checkup, her doctor said she was doing amazing! Four days later, Penny experienced her first seizure causing her to go from a girl who was right on track, to a girl who would sleep all day.

Penny woke up crying at four in the morning, so I went to check on her. She was jerking, but I did not think anything of it. After all, the only seizure I had ever seen was on the movies and they exaggerate those. I swaddled her up and she went back to sleep. At ten in the morning, she woke up. I fed her and she started jerking again. My husband was working, so I called my father, who lived next door. I explained that I believed Penny was having seizures. He came over to check on her. While he was holding her, she stiffened up and he immediately told me to get in the car.

We drove forty-five minutes to the nearest E.R. only to be told that it was spasms and she would outgrow it. The doctor discharged us without any tests or medications. That night my husband and I decided to stay with his parents because they lived fifteen minutes away from the hospital. Penny was having “spasms” every two hours, so the following day we drove three hours to Texas Children’s in Houston.

At Texas Children’s, they conducted a lumbar puncture, MRI, CT and a lot of blood work. In that moment, we were not crying but we were in shock, frozen with fear and confusion. How could our child, who was perfectly healthy two days ago, suddenly be hooked up to machines? We were admitted to Texas Children’s and stayed three weeks. All the previous test had come back normal, so the doctors decided to do a whole-exome sequencing test to look for any possible genetic factors that may cause the seizures. Because the test results would take six to eight weeks to return, we were sent home with Early Childhood Intervention (ECI) services and two anti- epileptic drugs, Keppra and Zonisamide.

ECI sent an occupational and special skills therapist to our home twice a week for an hour each time.

The therapists worked on getting Penny to hold things, rolling over and reaching. At this point in her life, Penny was constantly balling up her hands and hypertensive with her arms, bringing them up to her chest tightly. We were giving the medication as advised. However, they were doing nothing for her seizures and she was continuing to seize multiple times daily. She became zombie-like.

When Penny was around eight months, we decided to switch hospitals due to conflict of treatment. We started going to Cook Children in Forth Worth, Texas. Our three hours drive became five but it was for the better. Her new doctors determined she was having infantile spasms (IS), along with tonic-clonic seizures. They admitted us for a seventy-two hour EEG. We decided to treat the IS with ACTH injections. My husband and I had to attend a class on giving injections being that we were the ones to be giving them daily in our own home. Sadly, the injections did not work. So, we added Onfi onto the growing list of medications. Onfi finally stopped Penny’s IS.

Since we had a little control, her doctor decided to wean the Keppra and Zonisamide. After that, we added in CBD oil. Penny finally started going weeks without seizures. In therapy, she was hitting milestones by grasping toys and sitting unassisted. When she reached one and a half years of age, ECI added physical therapy. Her physical therapist ordered a stander for her to help with weight bearing through her legs. She worked with Penny by teaching her to walk assisted and unassisted.

A few months after Penny turned two, Penny took her very first steps unassisted!

Around this time, ECI also added speech therapy. After a few months of speech therapy, Penny learned some sign language. She can sign please, open, more, and come here. She was finally able to communicate with us.

Penny is now three years and has exited the ECI program and has started PPCD at our local elementary school. There, she still receives physical, speech, and occupational therapy. Before joining PPCD, we were nervous. Penny had always been at home with us. It has been very beneficial for her. Penny has begun picking up new skills and interacting with children more. For instance, she recently learned how to color with a crayon. I was so excited to add crayons in our shopping cart and to tape a picture onto our fridge. Our wall has nice, new artwork drawn all over within her reach.

CDKL5 is such a harsh, unpredictable disorder. That being said, it has taught us to appreciate every little thing, even something as simple as holding a cup. It’s also taught us to live in the moment. We take more random trips now than we ever have before. On my husband’s off days, we all load up in the car and drive to random towns to create memories with Penny. No one is promised tomorrow, so live for today.”

You can follow Penny as she works hard to raise money for her own seizure alert dog at her page Penny’s Pal