Rare Disease Education: 1p36 Deletion Syndrome

Rare Disease Education:  1p36 Deletion Syndrome

Editor: Kelsey LaFayette, DNP, RN, FNP-C

"When you hear hoofbeats, think of horses, not zebras,” is a common saying in medical education that means you should think of common conditions first, instead of rare ones, in making a diagnosis. “Rare” is a relative term though and about 7,000 rare, or "zebra," conditions affect more than 350 million individuals worldwide. Although these conditions collectively affect an enormous number of people,  each of these conditions individually is rare enough that it can be difficult to secure the resources to study them and to develop treatments and cures. Likewise, awareness of rare conditions may be low and health care professionals may not be familiar with their signs and symptoms making it more difficult to reach a correct diagnosis and provide effective treatments.  

To increase knowledge about rare conditions, Osmosis and the National Organization for Rare Diseases (NORD) have collaborated on an initiative to bring education and awareness to the public. We are excited to be a part of this initiative because we believe everyone deserves quality health care, no matter how rare their condition.

Zebra of the Week: 1p36 Deletion Syndrome

The human body is amazing at giving us the tools needed to achieve our goals. The genes in our chromosomes contain our body’s instructions for the building blocks of growth and development that we build upon from our earliest years. Yet, the starting point of the growth journey is different for each person. In people with 1p36 deletion syndrome, part of the body’s instructions are missing, altering the trajectory of their development.

1p36 deletion syndrome is a rare genetic disorder where a portion of the short arm of chromosome 1 is deleted. This deletion, although small, can have varying signs and symptoms depending on the amount of missing genetic material. Common symptoms include intellectual disability, slower motor development, difficulty swallowing, and weak muscle tone. Individuals may have seizures, vision and hearing problems, and behavioral problems such as self-harm. Individuals with 1p36 deletion syndrome can have distinct physical features such as a short stature and unique facial features.

Most cases occur “de novo”, meaning without being inherited from parents. 1p36 deletion syndrome is the most common terminal deletion syndrome in humans, occurring in about 1 in 5,000 births.

To learn more about the mechanisms and diagnosis of 1p36 deletion syndrome, watch the dedicated Osmosis video on YouTube and Osmosis.org

Meet Aleca

When she was 10 months old, Aleca’s mother realized that there may be something unusual about her daughter, but it took over six years for Aleca’s diagnosis of 1p36 deletion syndrome to finally be confirmed. Even through the uncertainty of their diagnostic odyssey, Aleca’s family and her educators do all they can to adapt to her needs. She has the appropriate tools to thrive and keep learning to the best of her abilities. Watch a snippet of her educational journey above.

Organization Taking Strides

The 1p36 Deletion Support & Awareness organization was established in 2009 by parents of children with 1p36 deletion syndrome who recognized the need for connection, networking, and mutual support. Dedicated families who have had to work on their own for so long joined forces to reach their common goal. Their goal is to support affected individuals to lead fulfilling lives and to increase public and medical awareness regarding this condition. They organize a yearly conference that brings together families to learn from a speaker lineup of medical professionals and genetics experts, to become aware of new research and clinical studies, and to forge lifelong bonds through social activities. Through message boards, blogs, and online groups, they can stay in touch throughout the year and share experiences and information. Visit their website to learn more about this non-profit organization and how you can help.