Connective Issues Spring/Summer 2025

Violet’s Story “We weren’t familiar with Marfan syndrome, so we didn’t know what we were dealing with,” said mom Crystal. “We had her tested from birth because we thought she had some type of condition but didn’t know which one, and every test came back with nothing.” Crystal’s suspicions were finally validated after Violet’s kindergarten eye test at school indicated severe visual impairment. She was then sent to an optometrist who referred her to an ophthalmologist with the warning that her severely dislocated lenses could mean other things as well. She was later diagnosed with Marfan syndrome. Because Violet had severely dislocated lenses, she had both removed. She is legally blind and wears thick-lensed glasses. Violet has been healing well post-surgery, and currently, she has appointments every six months with her ophthalmologist. Violet will get bifocals this summer and will have the option to try contacts with her glasses so she can have glasses with a lower prescription which will reduce the thickness. “We weren’t told about a lot of the challenges or solutions for her eyes, but I’m thankful we found answers through friends, family, and the Marfan support group.”

Need help finding an ophthalmologist or care team specializing in genetic aortic and vascular conditions? Visit our Clinic Directory at Marfan.org/clinic-directory or reach out to our Help & Resource Center at Marfan.org/ask .

Callie’s Story During a routine doctor’s visit at age four, Callie failed her eye exam and was referred to an ophthalmologist who suspected Marfan syndrome after observing her taller stature and partially detached lens. Callie visits the ophthalmologist twice a year and has experienced multiple revisions in her prescription. She also underwent strabismus surgery when she was four to help with eye alignment. “It has been a constant battle to ensure she has the best prescription possible as she develops and grows,” said mom Jamie. “Having a great eye doctor and team has been instrumental. We are trying to avoid additional eye surgery as long as possible.” As Callie ages, one concern for the family is driving, but Jamie is hopeful there will be new treatments and/or vehicle technology in the near future. “We may consider surgery at that point if it will be safer for her to be on the road. However, our family plan to is avoid surgery as long as possible if it keeps Callie healthy, safe, and active.” Loeys-Dietz Q&A The Loeys-Dietz Syndrome Foundation is offering a new resource that provides answers to frequently asked questions received through the LDS support groups and Help & Resource Center. The questions cover a wide range of topics related to Loeys-Dietz syndrome and are aimed at providing clear, reliable information to those affected by the condition. Get answers to questions related to CPR, Social Security benefits, phenotypes/genotypes, medications, and more.

Visit LoeysDietz.org/FAQ or scan the QR code to access the document.

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Spring/Summer 2025