Shreyash Barmate, a courageous teenager from Jabalpur, celebrated his 18th birthday earlier this month. This significant milestone defies the odds of progeria, a rare condition characterised by rapid ageing, with an average life expectancy of just 14 and half years without treatment. Shreyash's milestone is not just a celebration of his life but a symbol of hope and perseverance. His journey highlights the progress in medical care and the importance of community and family support in improving the quality and longevity of life for those with progeria.
Despite progeria's challenges, Shreyash embraces life positively and loves new experiences. His academic success and awareness campaigns show that life with progeria can be rich and fulfilling. Passionate about music, he has a strong social media following and enjoys video games, drawing, and spending time with friends and family like any other teenager. "Every year is a gift, and I am grateful for the love and support I’ve received from everyone around me. I plan to continue my passion for music and my studies," says Shreyash.
Audrey Gordon, President and Executive Director of The Progeria Research Foundation, shared her thoughts and said, "We celebrate Shreyash's milestone birthday with joy and hope for all families affected by progeria. He is living a longer, healthier life thanks to advances in treatments. His journey underscores the importance of ongoing research and support, which are vital to accomplishing our mission of discovering a cure for these remarkable children.”
Also read: True Story: How Technology Helped A Mother Raising A Child With Autism
What is Progeria?
Progeria is an ultra-rare, fatal, “rapid-ageing” disease. Studies say that without treatment, children with progeria die of heart disease at an average age of 14.6 years old. Gordon said, “Children with progeria share a unique and similar appearance; initial signs include growth failure, hair loss, skin tightening, and loss of body fat in the first years of life. Remarkably, their intellect is unaffected, and despite these significant physical changes in their young bodies, these extraordinary children and young adults are intelligent, courageous, and full of life.”
What are the Causes of Progeria?
According to Gordon, progeria is caused by a random genetic mutation in the gene called LMNA. “The LMNA gene produces the lamin A protein, which is part of the structural scaffolding that holds the nucleus of a cell together and helps to keep cells healthy,” she said. The abnormal lamin A protein that causes progeria is called progerin. Progerin makes cells unstable, which leads to the process of premature ageing and disease in progeria. As per research, this condition occurs in approximately 1 in 4-8 million newborns and affects males and females and all races equally. There are an estimated 400 children worldwide living with progeria.
Can it be Cured?
When asked if progeria can be cured, Gordon said, “We believe so! Through DNA Base Editing, our team of experts have discovered a way to permanently correct the progeria gene mutation at the DNA level in mouse models. By permanently “editing” just one DNA base, the cell does not make progerin and becomes normal and healthy. Mouse models in this study experienced 140% longer lifespans, reaching normal old age. This type of gene editing would be a one-time injection that could be our pathway to the cure!”
Shreyash Barmate’s story is a beacon of hope and inspiration. It reminds us of the strides made in medical research and the profound impact of love and support in overcoming life's challenges. His journey encourages us all to believe in the possibilities of science and the strength of the human spirit.