Before you read on, don’t forget to check out Part 1 of the story. In Part 1, Whitney talks about what CDKL5 deficiency disorder (CDD) is and the diagnostic journey for her daughter, Havilah. Today, in Part 2, we’ll discuss finding support within the CDD community, how Havilah is today, and advice for newly diagnosed families.

Finding Support through the CDD Community

Throughout their journey, Whitney has turned to the CDKL5 deficiency disorder community for help, advice, and support. When Havilah first began having seizures and they began the diagnostic odyssey, Whitney felt isolated and alone. To learn that there were other families like hers, and to see how others navigate this, was immensely comforting. Whitney says:

We share equipment with each other, resources, the names of specialists that we love, and sometimes even specialists that we should avoid. Through this community and their shared experiences, we were able to see that life could be normal. This is our family’s normal. We can embrace and love this. Before we had a diagnosis, I was too scared to put Havilah on an airplane. And then after we got the diagnosis, after seeing other families flying with their children, I thought if they can do it, so can we!

Whitney somewhat recently got to spend time with other members of the community at the 10th Annual Epilepsy Awareness Day and Education Expo. Various stakeholders—pharmaceutical companies, foundations and advocacy groups, medical professionals, and families—came together to work towards developing a cure for epilepsy. As Whitney went from one booth to the next, tears formed in her eyes. She was in a room of people who “got it,” who truly understood what she and her family were going through.

One particular booth was demonstrating the latest EEG technologies, but it was the conversation that drew Whitney in. She explains:

They told us that if you’re at the hospital and the technology isn’t working for you, you can ask for something different. I never knew that; it’s hard to advocate for your child when you don’t know what all the options are or even that there are other options. Just being in an environment like that where you are learning there are other options is so important.

CDKL5 Deficiency Disorder Care and Management

Currently, there are a few varied ways to manage CDKL5 deficiency disorder. Whitney shares:

Havilah is not on a lot of medications right now. We have found that either they don’t really help that much or we haven’t found one yet that does. The side effects can be hard. Havilah is on a keto diet and we follow therapies for her seizures. We’ve made a lot of accommodations in our home and at school to remove things that can trigger Havilah’s seizures, like fluorescent lights.

We have established a strict routine for what we have control over—we can feed her the same food at the same time, we can give her the same medications at the same time every day—and then everything else is flexible. Havilah really depends on her routine and following that makes a big difference in if she is calm or stressed. When you have hearing impairment, vision impairment and cannot speak, the comfort of a routine goes a long way.

However, there are new therapeutic options on the horizon. In March 2022, the U.S. Food and Drug Administration (FDA) approved the first treatment for seizures associated with CDKL5 deficiency disorder in children aged two or older: Ztalmy^® (ganaxolone) oral suspension CV. For Whitney, this provided a sense of renewed hope. It felt like her family had tried everything and now there is a medication available, alongside potential for future advances. While they would eventually like to try Ztalmy for Havilah, the family wants to take their time to consider their options and prepare.

Whitney also feels thankful that Havilah was born at a time when the support, technology, and equipment are more available. She shares:

I know there’s more coming. We are always on the lookout for the next therapy or medication that could improve Havilah’s quality of life. It’s another example of how we must stay flexible, and that can be hard. It’s also why it’s so incredibly important to have a knowledgeable medical team that you fully trust, who can help you identify the best options and make those decisions.

Of course, while these advances are promising, Whitney does hope that additional research is done within this sphere. In particular, she says:

I wish we better understood the brain and how to give these kids more of the protein they need. And I wish we knew how to better support not just kids with CDKL5, but nonverbal kids as a whole, with their discomfort and medical needs when they can’t effectively communicate with us.

Hopefully, this will be something we see organizations focusing on more in the future.

Havilah Today

Each day is a different day; Havilah, now six years old, keeps her parents on their toes. Havilah enjoys spending time with her siblings—four-year-old Landen and one-year-old Vienna—and is very social and cuddly. Whitney explains:

Havilah is sweet—that is the first word that comes to mind when I think of her. She will often reach out to be picked up or roll or crawl to people near her. She always wants to be hugged or snuggled. Havilah is also a ‘sensory seeker,’ so she likes the feeling of warmth and vibrations.

After mastering the skill of drinking out of a straw when she was younger, Havilah’s favorite item is her water cup. She is alert, reactive, and can sense what is going on in her environment.

But while these are all positive, Havilah does still struggle with seizures. Whitney shares:

We may have a day where she has two major seizures. Other days, she can have cluster events with seven or eight seizures right on top of each other, which is hard to recover from. She’s also gone through phases where she has 200 or even 300 small seizures in a day. The seizures have been rough lately. We’re not chasing total seizure control, but I want her to be comfortable.  Lately when she is seizing, she sometimes stops breathing which is terrifying, and something we want to get under control.

Overall, Whitney says that Havilah is happy and bubbly, and that is the most important thing for their family.

Advice to Newly Diagnosed Families

As Whitney shared above, finding support within the CDD community has been crucial in her understanding of CDKL5 deficiency disorder and in better managing Havilah’s condition. So in sharing her advice, she hopes to provide a similar level of support to those just beginning their journey. First, she says, parents should trust their instincts in relation to doctors. Whitney felt that many of the doctors they crossed paths with initially made her feel unintelligent or uninformed and acted like she didn’t really have a choice in Havilah’s treatment. For those beginning their journey, Whitney encourages them to find a doctor who respects them and listens because they do have options for their children.

Next, shares Whitney, parents should realize that there will be hard days, but that they can work through them. She shares:

A lot of times, as a parent, you’ll hear that ‘they’ll grow out of it,’ but with CDD, there is no guarantee that this will happen or that anything will be easier than the last. It’s hard to fight that feeling of being trapped, but you have to do that every day. With every new advancement in the field, it gets a little easier.

Finally, Whitney reminds parents that it is okay to feel upset or sad about receiving the diagnosis. That it’s okay to not always be okay. But in these moments, she shares, parents must center their children:

It’s okay to grieve. But remember that you’re grieving your dream, but you’re not grieving your child. In the beginning, the struggle for me was realizing that Havilah was not going to be ‘normal’ and wouldn’t be able to do all the things she’s expected to do. I grieved that, but then I had to realize Havilah is normal. Havilah is doing everything she’s supposed to do. And that doesn’t mean I don’t want to give her every opportunity for her future, it just means I love her exactly for who she is. Havilah is still with us. Havilah is happy. Havilah is who she was made to be.