June 17th is recognized as World CDKL5 Awareness Day and the month of June is considered CDKL5 Awareness Month. First organized by the International Foundation for CDKL5 Research (IFCR), the ultimate goal of these events is to help spread greater awareness about the disorder to the general public and the medical community. The day and month were selected in honor of the life of Leita’s son Glyn, who died as a result of the disorder on June 17th, 1997. Leita was a founding member of the IFCR and all three of her children have been affected by the mutation.
About CDKL5 Deficiency Disorder
CDKL5 deficiency disorder is a genetic disorder which is characterized by intellectual disability, seizures, and developmental delays. As the name suggests, the disorder is linked to mutations of the CDKL5 gene which usually occurs spontaneously and is not inherited from a person’s parents. Symptoms become noticeable in the first few months of life. Females are affected more frequently than males, but males tend to have more severe symptoms. These symptoms can include seizures (1-5 per day), constipation, distinctive facial features, reflux, teeth grinding, and problems with feeding and sleeping. Treatment options for CDKL5 deficiency disorder are limited and are primarily focused on minimizing symptoms. Some patients may require a feeding tube. There is a serious need for new and more effective therapies to treat this disorder. In order to learn more about CDKL5 deficiency disorder, click here.
There are multiple ways that you can reach out during the month of June to help spread awareness. The ongoing COVID-19 pandemic means that in-person events are not recommended, but that doesn’t mean that you can’t do anything.
Are you patient? Talk about your story on social media. Or better yet, reach out to local media in your area to tell your story and educate people about CDKL5 deficiency disorder.
You can also write to your state’s governor to ask them to make an official proclamation about the awareness day and month. You can find a letter template here.