Halloween Hope

In 2016, our daughter, Amber, was diagnosed with Kleefstra Syndrome. Kleefstra Syndrome is a rare genetic disorder characterized by a variety of physical, intellectual, and developmental difficulties. Kleefstra is caused by a mutation or deletion in the EHMT1 gene on the 9th chromosome. For most people, Kleefstra Syndrome is caused by a spontaneous genetic change and not inherited from either parent, which is the case for Amber. For her, KS caused a profound intellectual disability, minimal speech, seizures, low muscle tone, sleep difficulties, severe respiratory infections, autism, and what we call the dark days of Kleefstra. As person’s with KS enter adolescence they are more likely to experience periods of regression in developmental skills and catatonia. A few years ago, this happened to our Amber. She started having many physical and psychological symptoms, including periods of psychosis, hallucinations, and very abnormal eye and body movements. During this period, Amber was hospitalized four times to try to figure out what exactly what was causing her symptoms and how to treat them. She underwent numerous tests and procedures to rule out whether her symptoms were from seizures, cancer, or an autoimmune response. There really weren’t any answers for us despite multiple specialists and hospitals collaborating on her case. In the end it was determined that this was what a Kleefstra Syndrome regression looked like for Amber. It was the worst time in our lives.

Amber’s condition eventually started to improve after several months of various medical interventions. Thankfully, today she is close to her prior level of functioning. However, everyday is a challenge as different medical problems pop up for Amber and we don’t know if she will go through another regression. There are many people with KS that have multiple regression periods. It’s heartbreaking to know this can happen again and there is not a specific treatment for Kleefstra Syndrome to prevent it.

Amber loves all the holidays and our family loves decorating for them so we decided to dedicate our Halloween display to fundraising for IDefine. With your donation to IDefine you can help us stop the horrors of Halloween from becoming Amber's reality. IDefine is a nonprofit organization created by parents of children with KS. IDefine is dedicated to discovering life-changing treatments and a cure for those with Kleefstra Syndrome. We are hopeful that with enough research, treatments can be developed specifically for Kleefstra Syndrome. Our dream is for Amber and every person with KS to never suffer in the dark days of Kleefstra.

We invite you to join us in making a profound impact on the lives of individuals and families affected by Kleefstra Syndrome. Your donation to IDefine will directly fund critical research initiatives aimed at unraveling the complexities of this rare genetic disorder. By contributing to our cause, you are helping to pave the way for innovative treatments, enhanced support, and a brighter future for those facing the challenges of Kleefstra Syndrome. Every dollar brings us closer to our goal of redefining possibilities and improving the lives of those affected. Join us in this journey of compassion, discovery, and hope by donating to IDefine today.

With heartfelt gratitude,

The Drake Family