8p Symptoms

“What is our diagnosis?”

When a doctor asks us, “what is your diagnosis?”, they should be asking “how many diagnoses do you have?” because we have too many to keep track of. 

The majority of us have moderate to severe developmental delays among other health complications including heart defects. The impact of 8p conditions varies between individuals. Symptoms include:

Sometimes our brain mixes up signals when we want to bring food to our mouth and misfires — and the food ends up on our heads! And even this takes 10x more energy for us! We are often tired so people call us sleepy. We understand far more than we can say. We are smart and we are aware of our differences from most of the world. As 8p heroes, we typically receive therapy, nutrition for our body’s deficiencies, intervention from conventional research-based to holistic approaches, and special education support just to name a few.

We are living with a label that is a mouthful with no recognizable name which falls under the category of a rare genetic disorder or orphan disease. However, with your help, we heroes will never feel alone and labelled – we will learn from each other and teach the world…so that a chromosome 8p disorder transforms from an adjective to a meaningful and inspirational call to action. And this is why we are so very special.

And let’s not forget that we superheroes have a loving support system including tireless working Mothers, Fathers, Siblings, Relatives, Doctors, Therapists and more. We celebrate you all and we certainly cannot do this alone!

Chromosome 8 Disorders – What Is A Chromosomal Abnormality

This video is focused on people affected by abnormalities on chromosome 8, 8p, 8q, or both. It explains what a chromosome disorder is and where to find resources and connect with other families with chromosome 8 conditions. We explain abnormalities such as deletion, duplication, inversion, translocation, trisomy, ring formation and recombinant 8 syndrome. This video was not made by health professionals and is intended only for informational purposes.

Associated symptoms and findings may vary greatly in range and severity from case to case. Intellectual disability, congenital heart defects, epilepsy, autism, agenesis of corpus collosum, and sensory processing disorders are some of the diagnoses found with a Chromosome 8p karyotype. Common features include growth deficiency; cognitive impairments; mild malformations of the skull and facial (craniofacial) region, such as a small head (microcephaly) and vertical skin folds that may cover the eyes inner corners (epicanthal folds); heart (cardiac) abnormalities. Additional craniofacial features may also be present that tend to become less apparent with age, such as a short, broad nose; a low, wide nasal bridge; and/or a small jaw (micrognathia).

The majority of 8p individuals have developmental delays including disordered acquisition of cognitive and social competence and delays in reaching developmental milestones.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.
  • Lead with knowledge from patients. Currently, there is no cure for 8p disorders, nor is there a standard course of treatment.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Raise transformative funding for pioneering scientific research into treatments for a complex, rare disease involving 250+ affected genes on the short arm of the 8 th chromosome (8p). Rearrangements of these genes causes significant abnormalities to the entire neurological system, thus all organs and functions of the body– with variance in cognitive functions, gross motor skills, social development and other challenges during infancy, and throughout life;
  • Empower a unified community of 8p patients and their families so they can have meaningful lives today; and
  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.