INDIANAPOLIS — Thursday is National Rare Disease Day, a chance to spread awareness of thousands of illnesses affecting up to 30 million Americans.
Many of the illnesses have a direct link to your genes. Doctors say people carrying those genes often have no symptoms and no idea they have the condition.
That's why they say genetic testing before pregnancy is so important.
"It does allow couples to make decisions about how to build their family. Do they want to have children? Do they want to use something like in vitro fertilization or sperm or egg donation? Do they want to think about adoption?" said Dr. Dallas Reed, principal medical advisor at Myriad Genetics.
The test itself is not invasive. It typically is just a blood or saliva sample ordered by a doctor.
Even with genetic testing, getting a diagnosis is not easy. One Hoosier family spent 15 years looking for answers.
At first glance, Aly Edmondson is like anyone else her age, growing up through the years, smiling, dancing and, lately, living large on TikTok.
But behind all the smiles is a lifetime of pain and frustration.
"When she was a baby, she was sick a lot," said Aly's mom, Melissa.
"It was really frustrating because you didn't know how to fix it," Aly said.
The symptoms were seemingly endless and didn't make sense — eye cataracts, skin problems, hernias and hair loss.
"She had all the genetic testing that was available, and they kept saying, 'Yes, we know its something, but we can't find it,'" Melissa said.
After years and countless visits to doctors offices and hospitals for studies and surgeries, Aly ended at IU Health's Undiagnosed Rare Disease Clinic.
"Many times, people are coming to URDC as their final attempt at finding the cause of what's going on," IU Health Dr. Erin Conboy said.
Conboy examined Aly's extensive genetic testing, performed more and then compared it with other studies around the world. Finally, after 15 years came the answer the Edmondson's had waited for. Aly's mom just needed to to call the clinic to report one new symptom.
"She said, 'Well, I hate that, but that's the last piece that we needed,' and I was like 'OK, what does that mean?' And she said, 'Well, we found these other people, and they all have the cataracts, the alopecia,'" Melissa said.
Conboy said there were only six reported such cases in the world. Doctors had put all the pieces together.
"A big relief because you didn't have to question what it was anymore," Aly said. "I hope that my case can help someone else."
"It doesn't change what she has, but it changes how we look toward the future," Melissa added.