Lior’s Story
Lior | Age 35 | Central Israel
Note: The name in this story has been changed to protect the family’s privacy.
1. When were you diagnosed, and how did you or your family first notice something was different?
I have two young children who were both diagnosed with the Ashkenazi subtype of Wolfram syndrome two years ago.
In our case, it was actually an incidental finding from an exome test (which is a type of genetic testing that analyzes one’s DNA) — there were no symptoms at all.
2. What has been the biggest challenge, and how have you learned to cope with or overcome it?
The fear of the unknown future has been the biggest challenge for us, and the fact that it is a progressive disease, so you have no idea how it will develop or where it will lead for a person. Also, the basic frustration of having a diagnosis of an untreatable disease has been difficult.
3. What’s something you wish more people understood about living with the Ashkenazi Jewish subtype of Wolfram syndrome?
I wish people would understand the importance of supporting rare disease research, showing compassion and helping us save those amazing people — people who were normal, smart, sharp, contributing members of society. They might have been your classmate, your spouse, your friend — and now they are suddenly starting to lose abilities and getting worse over time.
Personally, my kids will for sure invent new things and help humanity (they are extremely smart and caring human beings), as long as they have the same opportunities — and health — as anyone else.
4. Has your diagnosis shaped the way you think about life, relationships or your goals?
My number one goal as a parent of kids with a neurodegenerative disease is to find a cure for them — my life will never be the same.
5. What advice or encouragement would you give to someone newly diagnosed or to their family?
We are extremely close to having a cure: gene editing could become available in the coming years, new molecules and drug cocktails may be developed even sooner — we just need to work better together to push forward and fund the research to make that happen in our lifetime. This is not an imaginary outcome — it is within our reach.