Parenting Children with Rare Three families share their stories of love, acceptance and advocacy by Tali Benjamin
No parent wants to hear that their child isn’t developing normally. It is even more daunting when the diagnosis is for a disease that you’ve never even heard of. A correct rare disease diagnosis can take five years or more, making the journey a long one. Finding the right doctors, therapists, treatments and support networks can be extremely challenging. For three Atlanta-area families, a rare disease diagnosis has led to a path of acceptance, advocacy and love. Tanner, 10 years old
CDKL5 Deficiency Disorder n CDKL5 (CDD) deficiency disorder is a rare developmental epileptic encephalopathy caused by mutations in the CDKL5 gene. Impacting 1 in approximately 50,000 births (very few are male), the deficiency or deletion of this protein in the brain includes a broad range of clinical symptoms and severity. The hallmarks are early-onset, intractable epilepsy and neurodevelopmental delay impacting cognitive, motor, speech, and visual function. Learn more at cdkl5.com.
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anner Froy lives in Woodstock with his mom, dad and two brothers. He has CDKL5 (CDD). At 3 months old, Tanner had his first seizure, and his parents knew something was wrong. “He was diagnosed with epilepsy first,” explains mom Courtney Froy. “They gave us medicine and sent us home, but I knew something else was going on.” About six months later, the medicine stopped working and other symptoms — not making eye contact, being non-mobile, hand-wringing — led the neurologist to order a genetic panel. At 10 months old, Tanner was diagnosed with CDKL5. “We were lucky to get a diagnosis so early. It’s a benefit of being in Atlanta,” says Froy. “It’s super rare because this is already a rare disease and only 10% of cases are found in boys.” Tanner is in a wheelchair and cannot see very well nor communicate. He seems to love music. “Tanner is at peace when it’s on,” says Froy. “In the mornings, my husband and Tanner listen to ’90s hip hop while getting ready. He is always smiling.” “Having a child with CDKL5 has affected every part of our lives and family,” says Froy. “It gives us a different outlook on life. When you spend so much time in medical facilities, you want the time you spend outside of them to be quality.” The Froys focus on being kind, happy and healthy with each of their children. “We just want them to have a high quality of life,” says Froy. “That looks like something different for Tanner. It took some time for his older brother Carson to really understand that, since he was 6 years old when Tanner was born.” Fundraising is important for families of children with rare diseases because research for genetic therapies is expensive and the best chance for finding a cure. Every August the Froy family holds a fundraiser called Toasting Tanner. “We are on the cutting edge of finding a cure. For kids like Tanner, we need answers soon,” says Froy. Awareness around rare diseases is also important to the Froys. “We got a lot of looks when Tanner was younger,” says Froy. “We have spent a lot of time to get people to know him and say ‘hi’ when they see him. He loves hearing his name and feeling included. He may look different and need different things, but Tanner is also a person.”
Fundraising is important for families of children with rare diseases because research for genetic therapies is expensive and the best chance for finding a cure. 46 Atlanta Parent
August 2024
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