Michele L’s Story

Michele L. | Age 58 | Scarsdale, NY

• When were you diagnosed, and how did you or your family first notice something was different?
  I was diagnosed with type 2 diabetes in 2021 at age 55., but my endocrinologist thought I didn’t fit the typical profile, so she ordered genetic testing to see if I had a rare form a diabetes called Maturity-Onset Diabetes of the Young (MODY). That’s when I unexpectedly tested positive for Wolfram Syndrome, with two pathogenic variants in the WFS1 gene — including c.1672C>T (p.Arg558Cys).

• What has been the biggest challenge, and how have you learned to cope with or overcome it?
  The uncertainty has been the hardest part — finding out as an adult that I have a rare genetic condition and not knowing exactly what to expect. Coping has meant learning as much as I can, staying proactive with my care and connecting with others in the community.

• What’s something you wish more people understood about living with the Ashkenazi Jewish subtype of Wolfram syndrome?
  I wish people understood how important it is to get an accurate diagnosis. It’s easy to assume it’s type 2 diabetes, optic atrophy or something else, but if you have Wolfram Syndrome — there may be other symptoms to watch for. Getting the right diagnosis means you can be monitored and treated properly, and potentially catch other issues early.

• What advice or encouragement would you give to someone newly diagnosed or to their family?
  You’re not alone, even if this diagnosis feels rare or overwhelming. There are people working hard to raise awareness and build a community.