Taylor’s Story

You will love Taylor Harrison. A sweet 6-year-old with a rare disease so rare, it currently has no name. Taylor expresses so much joy and happiness to all those around her. Through extensive genetic testing and research, Taylor’s geneticist, as well as her specialists, believe that her X Chromosome abnormality is the cause of multiple diagnosis.

Taylor has a large duplication of most of the information on the short arm of one of her X chromosomes, and the copy closest to the end of the chromosome is upside down. This piece of chromosome contains around 50 million letters of DNA which affects everything to do with how Taylor’s body works.

From day one, Taylor Harrison brought happiness and joy into the world, it was infectious. It was the kind of brightness that enchants the eyes to open all the wider and warms the skin. However, Taylor was a sickly baby, underweight and always in and out of hospital with respiratory issues and only at 10 months old, investigations began due to having complex seizure activity.

It took approximately 2 years and 8 months till the Harrison family knew why all these disabilities were being discovered in little Taylor. On a plastic hallway chair Taylor sat, legs kicking in the air, clearing the floor by several inches as they swung back and forth.

The hospital room is soon warmed by the emotions Taylor brings, by the love she shows her family. The moment at 3 and a half years old, it was explained to Taylors family that she had a chromosome duplication and that is the reason for all the disabilities. Taylors family took a moment, every part of them went on pause while their thoughts caught up. When the doctors told them they were all shocked and surprised that Taylor survived in the utero since she is only 1 of 2 in the world with this chromosome duplication, the family felt a new warmth to the day as they now know how special Taylor truly is. In all honesty, it is going to be forever evolving and a new diagnosis is always on the cards and what Taylor can do today she may not be able to do in a year from now.

The hardest part for Taylor’s family is having no one to talk to about her specific condition since it is so rare, and the future is unknown. Remember, don’t take time for granted and make sure you show the world so much love and kindness – just like Taylor.

Taylor’s geneticist, as well as her specialists, believe that her X chromosome abnormality is the cause of all the below diagnosis:

  • Large 50 million mega bass chromosome duplication disorder

  • Global developmental delay

  • Speech delay— non-verbal

  • Generalised delay

  • Generalised uncontrolled epilepsy, consisting of the following seizure types: Clonic Tonic, Complex Partial, Vacant/absent, Myoclonic, Atonic (drop seizures)

  • Aspiration – breathing abnormality

  • Primary Ciliary Dyskinesia – ongoing treatment required

  • Sensory processing disorder

  • Autism Spectrum Disorder

  • Hearing issues with grommets and suspected cilia preventing full range of hearing

  • Laryngomalacia

  • Low muscle tone

  • Hyper extended joints