Everyone’s circumstances are different, but below are a few examples of individuals experience with a rare disease and how their circumstances led them to make others aware of their rare diseases.
Concerned about Safety
Janet Mills had symptoms of her disease as a teenager, but she wasn’t actually diagnosed with CADASIL, until she was 49. CADASIL is a rare genetic disease that causes progressive degeneration of blood vessels and can cause strokes. Because CADASIL causes a weakening of the blood vessels, medications used to normally treat stroke patients can cause fatal cerebral hemorrhage. Janet not only wears a medical alert bracelet, but she also discusses her condition with her friends because if she blacks out, suffers a migraine, or has a stroke, they need to know where she keeps her medical information and what they can do to help.
A Child's Perspective
At 13, Cyndi Frank was diagnosed with Gaucher’s disease, a lysosomal storage disorder. Though enzyme replacement therapy is available today, at the time of her diagnosis, such treatments were about 20 years away from market.
She remembers her parents talking over her head with her doctor. She says she had been through more than 100 blood tests and finally confronted her parents and told them she wanted to know what was going on. She told them she was old enough to know what she had and her parents agreed. She says the person with the disease is the one who needs to learn how to live with it.
Jenna Miller, a genetic counselor, tells the story of her niece Ivy, a little girl who has a rare disease called epidermalytic hyperkeratosis or EHK, a genetic disease that can cause very red skin and severe blisters. The skin grows fast and can look yellow, thick, or scaly. Because the manifestations of the disease are very apparent, they can cause people to have unwarranted concerns. Ivy’s parents printed up cards that explain Ivy’s condition and provide assurance that Ivy is not hurt, neglected, or contagious.
For More Information:
• Check with your genetic counselor or physician for appropriate resources
• Seek out specialists
• If you have a diagnosis, find a group focused on that condition
• Ask questions about your family history