Bengaluru: Rare disorder breaks student’s bones, but not his spirit

BENGALURU: As a child, Rohan Kumar developed symptoms like joint pain, swollen foot, swelling of salivary glands, liver disease, and inflammatory bowel disease, prompting his parents to seek medical attention.
X-rays showed bone damage in his foot and kneecap. Liver enlargement was also noted. By the age of 14, Kumar (name changed) needed a wheelchair or crutches for mobility, and experienced painful swelling in his left ankle joint.“I had X-rays, MRI scans, and biopsies on my legs done countless times. First, it was diagnosed as TB, but the treatment failed. My condition worsened with each passing year,” says Kumar.
The Bengaluru-based boy’s battle with sharpenia, a rare genetic disorder, caused by a mutation in SHARPIN gene, has now captured global attention. “This is the first patient with sharpenia reported here,” claimed Dr Anand P Rao, consultant pediatric rheumatology at Manipal Hospitals, Old Airport Road, Bengaluru.
In patients with sharpenia, multiple bones get damaged without trauma. “Kumar had swelling of the feet because of the bone getting damaged. The immune system damages bones,” he explains.
A research study published in the British scientific journal on April 12, 2024, delves into how SHARPIN deficiency leads to autoinflammation and immunodeficiency. Kumar’s case is meticulously documented in the study.
Dr Rao had a serendipitous meeting with Dr Ivona Aksentievich, a noted geneticist from Belgrade, Serbia, during a conference.
Aksentievich examined the genetics of Kumar’s family. “The whole family’s samples were sent to a lab abroad and later, we received an e-mail, saying the boy had a mutation in the SHARPIN gene,” recalls Dr Rao.
Kumar was invited to the lab in 2017, with his family for further evaluation, which revealed the involvement of multiple organs such as liver, salivary glands, intestines, and bones.
Kumar was born out of a consanguineous marriage. His great-grandfathers exhibited similar symptoms, and suffered from joint pains until their deaths. With medication, Kumar’s quality of life has improved greatly. “I started walking on my own. I became self-reliant,” says Kumar. The treatment has been subsidised by National Institute of Health in the US. The actual cost would be around Rs 2 lakh a year, says Dr Rao.
The mother of now 23-year-old Kumar, says, “Kumar would have pain in his knees, spinal cord and neck. At one point, he even suffered from stunted growth. Despite all hardships, he studied well, and if all goes well, he will complete his engineering degree soon. The pain was so unbearable that he would writhe in agony.”
She adds, “Despite his condition, he remains active and passionate about dancing, singing, reading spiritual books, and travelling.”