The Mirali Family Story

Submitted by Tiara’s mother, Saba Mirali: 

Tiara was born in February 2023 and, despite some concerns during my pregnancy about her size, she arrived via normal delivery. She was a beautiful baby and everything seemed fine. However, as she started to grow, we began to notice some differences in her development compared to other kids her age.

At seven months, Tiara underwent an MRI, which revealed a white matter disease. Following up on that, the doctors did genetic testing and the results were heart-wrenching. Tiara has the GjC2 gene, which led us to a diagnosis of leukodystrophy, specifically PMLD.

Since Tiara’s diagnosis, we've embarked on a challenging journey of physiotherapy and occupational therapy. Now ten months old, Tiara is putting in tremendous effort. She currently needs assistance to sit and we're uncertain about how the disease may affect her ability to walk in the future. It's been a significant adjustment for our family, as these were not the hopes and dreams we had for our firstborn.

Navigating this journey has been incredibly tough. I am constantly searching for stories of families facing similar challenges that will guide me with hope and strength. In this process, I came across the PMD Foundation and it has been a source of support and encouragement for families like ours. I'm grateful to have found these resources and hope that the PMD and PMLD communities can provide the strength Tiara and I need.

Tiara is such a brave little girl, and I believe that, with a strong support system, we can continue to face whatever challenges lie ahead.