About six months after birth, Mackenzie’s mother and I were notified that Mackenzie was not meeting her developmental milestones. Over a year later and countless doctor visits we were finally able to get the diagnosis that Mackenzie has a rare genetic disorder, Tetrasomy 18p. This is caused by the presence of an additional isochromosome, composed of two copies of the p arm of chromosome 18. This is a very rare condition, affecting only 250 families world-wide.
Mackenzie’s condition affects her in a number of different ways. From a physical side, she is low tone, has torticollis, scoliosis, very recurrent ear infections, and gastrointestinal issues. In addition to these she has to have yearly checkups with a neurologist and cardiologist, as seizures and heart defects are common. Mentally, she is developmentally delayed and has trouble speaking clearly.
Mackenzie began to walk at about two and a half years of age. She is still very unstable and has hit her head several times requiring trips to the emergency room. The most concerning issue that occurs with Mackenzie is on average three to five times per year she becomes ill, and begins to vomit constantly. Even with all of our trips there has been no diagnosis for this.
Currently, Mackenzie attends Dwight D. Eisenhower elementary and is enrolled in Florida’s Early Steps program. At school she receives speech therapy and occupational therapy once per week.