Born on Rare Disease Day with a Rarest of disease mutation; Rare amongst the ‘many Rare’

The story of Aisha

Aisha was born on the RDD 2019 at 1111hrs in Islamabad, the capital of Pakistan. Owing to her mother’s unstable condition, she was born slightly prematurely via cesarean. It was a day when the abrupt war ended and peace prevailed. Aisha had no complications subsequently, until a few months later, she was diagnosed with infantile MLD just like her eldest sister (Nahl), who had passed away in 2016. MLD (Metachromatic Leukodystrophy) is a cruel disease with a poor prognosis and most children are unable to get timely diagnosis n treatment. Treatment option (Libmeldy) has recently been announced but only for those who have not started manifesting their symptoms. Aisha’s genetic diagnosis was possible only because of Nahl’s suffering n sacrifice. Nahl had an MLD mutation which was not previously registered in international database. Aisha had a bleak opportunity to avail a trial treatment of Gene Therapy from a research hospital in Milan, Italy. She was lucky n blessed to reach the hospital in time n successfully complete the process. Alhamdulilah, despite her slight gait n minor CNS/PNS damages, she is now able to walk around at age of three years and seems to b now safe from the disease progression. Being the only child to have got the Gene Therapy from Pakistan,
in unbelievable circumstances, is a miracle in itself. Very soon, with Aisha’s improving health, she is going to “RUN WITH MLD” and open a door to enable many similar Pakistani children; who are devoid of much needed diagnostic facilities n timely treatment options. Insha’Allah with joint working of stakeholders n support from RDD international, many will benefit n see there dreams come true.