Rare Disease Education: Hirschsprung Disease

Hirschsprung Disease

Rare Disease Education:  Hirschsprung Disease

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: Hirschsprung Disease

A luscious garden full of trees, flowers, and grass needs regular watering to maintain, but what if your newly-bought garden hose has a “kink”,  a section tightened with a reduced diameter, that does not let water through? If our digestive system was likened to that hose, the “kink” would be the portion affected by Hirschsprung disease.

Hirschsprung disease is caused by the absence of particular nerve cells called ganglia in a segment of the large intestine of an infant. The absence of ganglion cells causes the muscles in the bowels to lose their ability to move stool through the intestine with the rhythmic contractions called peristalsis. Stool is blocked at that point and it therefore makes sense that the first symptom is usually failure to pass meconium, the baby’s first and sticky bowel movement, within a short time after birth. Other symptoms include abdominal pain and distention, vomiting, and constipation. Infants with Hirschsprung disease often exhibit poor weight gain and slow growth.

Hirschsprung disease occurs in approximately one in 5, 000live births. It is usually apparent so early on that 90% of initial diagnoses in the United States are made within the first year of life.  Yet, it may present in older children and adults and should be considered in people with a history of severe constipation.

To learn more about the diagnosis and treatment of Hirschsprung disease, watch the dedicated Osmosis video on YouTube and Osmosis.org

Meet Lauren Grace

Toddler Lauren Grace is full of energy playing around a colorful room, as her mother Lupita revisits her rare disease journey with the pediatric surgeon that took care of them. At first, the family was scared, not even knowing how to spell the disease their child had been diagnosed with. They feared the necessity to move to faraway places to get the right care. Watch them tell their bright story above.

Organization Taking Strides

The International Foundation for Gastrointestinal Disorders is a registered nonprofit education and research organization founded in 1991 with the mission to inform, assist, and support people affected by gastrointestinal disorders such as Hirschsprung disease. The organization hosts awareness month events itself and empowers individuals who want to act locally with the tools they need to move forward. They maintain an important library of fact sheets and information for gastrointestinal disorders and regularly publish both a newsletter and a magazine, called Digestive Health Matters, to keep subscribers updated. They provide research grants to bolster the academia that may bring a cure to Hirschsprung disease. The foundation is also active in advocacy because it realizes that a multi-pronged approach yields strong results. Visit their website to learn how you can help.