Cellular Therapy Gives a Ray of Hope to 2.5-Year-Old Diagnosed With Joubert Syndrome

Cellular Therapy Gives a Ray of Hope to 2.5-Year-Old Diagnosed With Joubert Syndrome

Mumbai: Dr. Pradeep Mahajan, Regenerative Medicine Researcher, StemRx Bioscience Pvt. Ltd. gives a ray of hope to a 2.5-year-old child suffering from Joubert syndrome, a genetic disorder that affects the area of the brain that controls balance and coordination known as the cerebellum. It is a rare complex genetic disorder, affecting approximately 1 in 80,000 newborns, causing varying degrees of physical, mental, and sometimes visual impairments.

Master Malhar Jadhav was unable to sit without support, had poor neck holding, did not have movements in fingers and hands, no speech development, muscle atrophy, and abnormal breathing patterns. Seeing these issues, the pediatric doctor suggested a genetic test by which he was diagnosed with the rare, Joubert syndrome.

After running from pillar to post for better medical treatment with the hope to cure the child, the parents were disappointed as most doctors said that there is no standard medical cure for this particular disease. However, while searching on social media, the parents came across Dr. Pradeep Mahajan and read about stem cell treatment, where similar cases were treated with good results. The parents consulted the doctor in December 2020. As they were satisfied with the doctor’s consultation, they decided to consider stem cell treatment for the child.

Dr. Pradeep Mahajan, Regenerative Medicine Researcher, StemRx Bioscience Pvt. Ltd. says, “The brain does not develop normally in this genetic disorder. The cerebellar vermis, one of the parts of the brain, which controls balance and coordination, is either underdeveloped or absent in patients suffering from Joubert Syndrome. Moreover, the brain stem which is connected to the brain and spinal cord is also abnormal. This is the reason why these children are not able to sit or stand on their own.”

Dr. Mahajan says, “While treating such rare neurological disorders, it is important to understand the complexity of the brain, as the syndrome affects each child differently, causing minor to severe symptoms. Cellular therapy can reduce the symptoms and improve quality of life.”

“After the consultation, we explained to the parents about the stem cell treatment (sandwich protocol) along with neuro-rehabilitation. Following nine months of planned treatments and follow-up, the child has started showing results, and he is now able to sit up without support and can do minor neck movements. Because of this, his posture has improved quite well (he had a bent posture before treatment). Soham tries to grasp light objects and even tries to lift his food, all of which was not possible before treatment due to lack of movement in fingers. He has started eating semi-solid foods and his breathing ability has improved as well. We are seeing gradual improvement in each issue and are confident that he will continue to improve with time,” said Dr. Mahajan. 

Dr. Mahajan says that genetic screening is very important as early as possible in order to diagnose a disease and plan interventions. Generally, in brain-related conditions, early treatment leads to better results that can be maintained for longer periods. Because cellular therapy is based on natural healing mechanisms of the body, the growth period of the child is the best time to start the treatment—better outcomes can be achieved this way.