When Camden Rau was born, his parents immediately knew that he was facing some sort of health problem. According to Camden’s father, Steven, who spoke to Wink News, Camden’s skull was fused together. His mother, Shelby, notes that Camden also underwent open heart surgery at just three weeks old. However, for a while, doctors were not sure exactly what was happening with Camden. But recent genetic testing answered the question: KAT6A syndrome.

Because this condition is incredibly rare, Camden is one of the few people worldwide diagnosed with this condition. In fact, the KAT6A Foundation notes that only around 300 people have KAT6A syndrome. Unfortunately, this also meant that the Rau family did not have a lot of resources to educate themselves or medical professionals.

Soon, the Rau family connected with other families and eventually shared their story with the KAT6A Foundation, a 501(c)(3) organization whose mission is:

to support people and their families living with KAT6A and KAT6B related disorders. It is imperative to raise funds to further research and identify possible treatments that could lead to a better quality of life.

Camden’s Story

In a letter written for the KAT6A Foundation, entitled “1-2-3 Go Camo!” the Rau family writes that their journey started during an ultrasound. After discovering that Camden had a congenital heart defect, Tetralogy of Fallot, the family knew that he would have to eventually undergo open heart surgery. But when Camden was born in February 2015:

Camden’s head was extremely tall and elongated while having a very obvious skeletal deformity from his forehead to the back of his skull. With these two serious issues [the heart defect and craniosynostosis] identified, the geneticist told us there was a very good possibility Camden had a genetic disorder, but it was too hard to tell which one based on symptoms alone.

The Diagnosis

By 18 months old, Camden had undergone open heart surgery and a surgery to repair his craniosynostosis. However, his family still had no insight into his genetic condition. This is unfortunately common in the rare disease sphere; it takes an average of 4.8 years to reach a diagnosis. The Rau family received Camden’s diagnosis when he was around 2 years old, following genetic testing.

In the letter, Shelby and Steven also discuss some of the difficulties of having a child with a rare condition. To them, his diagnosis was:

Some kind of proof to show doctors who made us feel like terrible parents by saying our son was failing to thrive, accusing us of not feeding him enough, and constantly bringing up the percentile chart for height and weight. It explains why our son has never spoken a word and why there is a good chance he never will; why he has so many physical issues; the cognitive delays; the brain damage; why he is so tiny; the constipation; the poor muscle tone; everything.

Now, at 5 years old, Camden is thriving. His family describes him as playful, caring, and family-oriented. Although there are still many physical and medical hurdles ahead, the Rau family is working tirelessly to support Camden and raise awareness around KAT6A syndrome.

KAT6A Syndrome

Caused by KAT6A gene mutations, KAT6A syndrome is a neurodevelopment disorder impacting the central nervous system (CNS) and brain. The mutation causes issues with a form of histone acetyltransferase, a type of protein that regulates and controls other proteins throughout the body. Because of the rarity of this condition, researchers are still learning about the KAT6A gene and its role. While KAT6A syndrome can be caused by a spontaneous mutation, it is typically inherited in an autosomal dominant fashion.

Although researchers are still learning about this condition and its symptoms, current symptoms and characteristics include:

• Intellectual and developmental delays
• Constipation
• Microcephaly
• Craniosynostosis
• Seizures
• Frequent and recurrent infections
• Difficulty swallowing
• Acid reflux
• Poor muscle tone
• Twisted or rotated intestines
• Sensory issues
• Problems with sleeping, speech, and behavior

Learn more about KAT6A syndrome.