All about phocomelia, the rare condition Paralympian archer Sheetal Devi was born with

Paralympian archer Sheetal Devi’s bull’s eye shot at the ongoing Paris Para Olympics 2024 has wowed everyone. She might have lost the pre-quarterfinal round to Mariana Zuniga by a point, but the debut of the 17-year-old armless archer — who shoots with her legs, shoulders, and jaw — at the Games has been no less than an inspiration. Born with a rare defect called phocomelia that causes underdeveloped limbs, Sheetal began her archery journey when she was just 15.

We decided to learn more about the condition and its causes

Sheetal was born with underdeveloped upper limbs, but according to Dr Sudhir Kumar, consultant neurologist, Apollo Hospitals Hyderabad, in some other cases, the lower limbs could also remain underdeveloped. “The severity of phocomelia varies, ranging from absence of parts of the upper limb to the entire upper limb,” Dr Kumar told indianexpress.com, adding that sometimes, while the entire upper limb is missing a person may be born with only fingers (as an appendage).

“In most cases, however, the cause of phocomelia is unknown. In some, it could be a genetic disorder,” Dr Kumar said, further pointing out that back in the 1960s, many babies had developed phocomelia, “which was related to the use of thalidomide (a drug for treating nausea and vomiting) by their mothers in the first trimester of pregnancy“.

The condition is a birth defect (representative)(Source: Freepik)

National Center for Biotechnology Information (NCBI) notes in a report that when phocomelia is identified in a child, physicians should complete a thorough search for other associated abnormalities, as other defects are present in approximately half of the patients presenting with this limb anomaly.

“Particularly, practitioners should examine the musculoskeletal system, including the vertebrae, the intestines, and the heart, as dysfunction in these organ systems appears most frequently in conjunction with phocomelia,” it reads.

 

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Currently, Dr Kumar noted that thalidomide use is banned in pregnancy. “There is no specific treatment for phocomelia,” said Dr Kumar.

NCBI notes that prosthetics may be of some use, “but many without such tools can function quite well”. “Families of children who have severely hypoplastic extremities should work with therapists to help understand how to meet the unique needs of their children. And finally, caring for a disabled child can be traumatic for some people. Therefore, physicians should have a low threshold to recommend mental counselling services to assist in coping mechanisms that both the parents and the child may need,” the report reads.

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