Written by Geoff Case, digital editor

Carla Scaramella and Luciana Pareto from Argentina describe an exciting development for the Hirschsprung’s disease and anorectal malformation communities in Latin America.

November 2023 saw two Argentina-based advocacy groups join forces: Hirschsprung Argentina and the Association of Parents of Children with Anorectal Malformations (AMAR). Carla says this reflects a global trend for advocacy groups for these conditions, who find they can better support their respective communities through coordinating their efforts.

Hirschsprung Argentina

Hirschsprung’s disease

About 1 in 5,000 newborns has Hirschsprung’s disease, a birth defect in which some nerve cells are missing in the large intestine. Consequently, a child’s intestine can’t move stools and becomes blocked.

Source: https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease

Carla Scaramella founded Hirschsprung Argentina in 2022 to raise awareness of the disease and its consequences. Tragically, in 2014, her son Augusto died at 14 months from septic shock caused by enterocolitis, which had been misdiagnosed as gastroenteritis. Unfortunately, the emergency doctors treating him were unaware of the risk of enterocolitis—and how to treat this—following corrective surgery for Hirschsprung’s disease.

“Many times, doctors who don’t know about cases of Hirschsprung’s confuse enterocolitis with common gastroenteritis,” Carla says. “In any situation similar to gastroenteritis, the possibility of enterocolitis should be suspected.” Carla has worked with Hospital Garrahan, a public hospital in Buenos Aires, to create an alert card for people living with Hirschsprung’s disease to prevent undiagnosed enterocolitis.

She stresses that surgeries for Hirschsprung’s disease are corrective rather than curative, and that the disease may have short, middle and long-term challenges. That awareness is “super important for kids”, she says. “That way, when they are adults, they will know to highlight these diseases in their medical history when they see a doctor.”

Association of Parents of Children with Anorectal Malformations (AMAR)

Anorectal malformations

Anorectal malformations are birth defects of a child’s anus or rectum that interfere with the normal passage of stool. When the anus is completely blocked, the condition is called “imperforate anus”. About 1 in every 5,000 babies is born with anorectal malformations.

Source: https://www.niddk.nih.gov/health-information/digestive-diseases/anatomic-problems-lower-gi-tract/anorectal-malformations

Luciana Pareto began advocating for families affected by anorectal malformations in 2020, and formally founded Association of Parents of Children with Anorectal Malformations (AMAR) in 2023.

Luciana’s experience of anorectal malformations began in 2017 with the birth of her second son Fermín. He was born with an anal fistula (a small tunnel that develops between the end of the bowel and the skin near the opening of the bottom), which was not detected for 21 months.

Fermín’s condition was misdiagnosed as constipation, and he was treated “a thousand ways”, Luciana says. In desperation, she consulted a specialist in Buenos Aires, about 400 km from her home. After an examination and X-rays, the paediatric gastroenterologist quickly diagnosed the true cause of his health problems.

Today, through AMAR, Luciana is determined to ensure that Spanish-speakers throughout Latin America have easy access to information about anorectal malformations—previously most information on the disease on the Internet was in English. AMAR currently supports 180 families across Latin America, many of whom are connected through a WhatsApp group.

Together, we are stronger

Carla explains that Hirschsprung’s disease and anorectal malformations share several challenges. “They are both congenital colorectal diseases without prenatal diagnosis. They each have a prevalence of 1 in 5,000, and both are generally diagnosed in the first days or months of life.

“They both require one or more surgeries, which should be performed by colorectal paediatric surgeons, and need a multidisciplinary approach,” she adds. They require a colostomy or ileostomy—but not always for Hirschsprung’s disease. Similar post-operative challenges—incontinence, constipation, food and nutritional issues—can develop for each of them.”

These commonalities mean that the two organisations can effectively join forces to give informative talks to families on topics such as wound healing, follow-up after surgeries and school inclusion. They also work with a group of professionals at the Hospital Italiano de Buenos Aires, who provide scientific advice for the two groups and are currently preparing a Hirschsprung’s disease workshop for surgeons and other healthcare professionals.

Describing the partnership between Hirschsprung Argentina and AMAR, Luciana stresses the value of parents having a sense of belonging within a strong community: “We want these children to be well, to get them ahead and for them to be happy in the future. That’s what the partnership is for.”

“Having a support network for the family where they can ask questions, ask for advice, where the same language is spoken, is very important to walk the path of a rare disease.”

– Fernanda, mother to a 14-month-old with Hirschsprung’s disease

Carla concludes: “Together, we are stronger… We are no longer 1 in 5,000. We are 1 in 2,500, so we aren’t so rare. Now, we are unstoppable!”

Editor’s note: The acronym “AMAR” is from the Spanish, Asociación de Padres de Niños con Malformaciones Anorrectales.

Wherever you are in the world, reach out to us at hello@rarerevolutionmagazine.com to raise awareness of a rare disease close to your heart.

Links

Find out more about Hirschsprung’s disease: Mayo Clinic | Hirschsprung disease

Hirschsprung Argentina:

instagram.com/hirschsprung_argentina

facebook.com/hirschsprungargentina

AMAR (Association of Parents of Children with Anorectal Malformations):

instagram.com/amar.asociacion_padres

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