At the age of 18 Iqra Afzil was diagnosed with a rare condition called Pompe disease. 

Now 21, Iqra is concerned for the future but determined to share her experiences in the hope it will assist someone else who may find herself in her situation.

Iqra said: “I have an invisible condition. You pass me in the street and see a healthy young woman. Maybe you spot me sitting in the priority seating on the train and question my validity. Little do they know that, at the age of 18, my world turned upside down with the diagnosis of a rare and progressive condition. "

Pompe disease is a rare genetic disorder that causes progressive weakness to the heart and skeletal muscles. Ahead of International Pompe Day on 15 April, Iqra is helping to raise awareness of the disease as part of an initiative supported and funded by Sanofi UK&IE to further amplify the voices of those with rare diseases. 

Iqra said: "The shock I experienced in the period immediately after learning I have a progressive disease was compounded by the backdrop of a global pandemic. 

"The main reason behind my shock was the lack of symptoms I was experiencing at the time of diagnosis. Yes, there were indicators of my condition while attending school and during activities with friends, but I never once considered that I would require lifelong care for a disease with no cure.

"When walking between classes at school, I’d experience some back pain and often be last to walk up a flight of stairs, but I simply attributed this to a lack of fitness. 

"When standing back up from tying my shoelaces, I’d often feel dizzy and would ask my friends to help me. Within the context of both the triumphs and lows of growing up, these relatively small hurdles did not appear to be anything more than innocuous. 

"However, following increased back pain, at 16 years old, I was diagnosed with scoliosis and blood work revealed unusually high levels of creatine kinase (CK) in my system. 

"Throughout the next two years, I was referred to many medical professionals from rheumatologists to liver specialists who all carried out frequent tests before eventually discovering the source of my elevated CK levels as Pompe disease."

In September 2020,  she started studying Paramedic Science at University of Greenwich. By this time, she was starting to feel the symptoms of Pompe disease with increased severity.

This consisted of high levels of fatigue and increased pain, including in her neck, back, and legs. 

She said: "After only a few months, following an occupational health assessment and advice from my doctor, I was advised to drop out of university. I was told the physically demanding placements and timetable would not be conducive to maintaining the quality of health that I’m striving to keep a hold of. 

"More so than the physical toll, the mental implications of diagnosis and the associated uncertainty, alongside the stress of my studies, would have been unsustainable to manage. It is this psychological element of my diagnostic journey that has been the hardest to reconcile and continues to be my biggest obstacle."

Iqra grew up in East London with many siblings, all of whom are considerably older than her. 

"Since my condition is genetic, there is a chance that they too could be diagnosed with the disease if tested. However, they have chosen not to be tested for Pompe disease. 

"Perhaps this decision emanates from the prevailing taboo around rare diseases within the Asian community or maybe it is just a personal preference, they have not communicated their reasons to me. I have never been embarrassed about my condition and, when asked, it is not something I hide from others.

"Looking ahead, I’m still trying to decide what career path would best suit both my interests and limitations. It does not appear that my passion for emergency medicine will be fulfilled, and while I’m nervous about what the future holds, I’m confident that I can make the best of my situation. 

"To those who find themselves in a similar circumstance to myself, my advice would be to take each day as it comes and try not to overthink every little thing. Although this is much easier in theory than practice, the pursuit to ride both the high and lows that life throws your way is certainly not a hollow endeavour."

For more information on Pompe disease, you can find helpful resources from Pompe Support Network and the Association for Glycogen Storage Disease (UK). Sanofi UK&IE collaborated with rare disease patient organisations on a 2023 campaign to raise the voices of the rare disease community, called This is Rare.