The Zahner Family

AJ - 5q14.3 Chromosome Deletion Syndrome

What Rare Disease were you or your family diagnosed with?

5q14.3 Chromosome Deletion Syndrome.

Please tell us about your journey with your rare disease?

Andrew James Zahner, AJ, is a beautiful, happy, smiling 3 and a half year old. He was born at 41 weeks with zero complications during pregnancy and delivery. He likes Thomas the Train, books that have sound and anything that lights up while playing music. At first glance, you would never know that he was born with 5q14.3 Chromosome Deletion Syndrome which is a result of his DNA missing the MEF2C Gene (also known as MHS)The symptoms are, epilepsy (most have it but not all) completely non verbal, stereotypical movements and the inability to be still, doubly incontinent, hypotonia (low muscle tone), wide legged gait when walking, (some children walk but not all) brain abnormalities, heart abnormalities (some not all) although a lot of our teenagers have a fast heart rate, inability to control their temperature at times, kidney abnormalities (some not all), severe to profound learning difficulties, varying problems with eating, chest infections/pneumonia, some distinctive physical anomalies in face, feet and hands, anxiety and autistic tendencies. This rare genetic condition is only documented in about 70 other children in the world. It’s currently very rare but we are told it will become more common with the advancement of genetic testing.

How can RareKC help you and your family?

While there is not anyone else in Kansas City with this diagnosis, support from organizations like RareKC help bring other Rare families together to provide the feeling of community.