GRETNA, Neb. (KMTV) — Numbers can help add context to what makes something rare.
- Today, there 10 diagnosed cases in the United States and 50 worldwide of Schimke Immuno-osseous Dysplasia, or SIOD.
- The average life expectancy for those with the genetic condition is nine years old.
- It's believed, at 21 years old now, Gretna's Emily Koesters is the oldest woman in the world with SIOD.
Continue reading for the broadcast transcript about the Koesters' journey.
"Go get the meds!"
Emily Koesters works with her service dog, Hamilton, daily. He came into her life last year.
"Good boy," she said, rewarding him with a treat as he returned with her pouch of medications from a console outside her room.
Hamilton is also trained, for example, to ring a bell if Emily has a seizure. Importantly, his presence gives her more independence.
"Mom and Dad can be in another room. They don't have to keep on checking on me every five minutes," she smirked, as her mom, Erin Koesters, laughed from the hall.
Emily is 21 years old now. And at 21, it's believed she's the oldest living female in the world with Schimke Immuno-osseous Dysplasia, or SIOD.
The first sign of this rare genetic condition came at three-and-a-half when Emily had kidney failure.
Erin remembers thinking, "Okay, she's pretty healthy. Why is this happening?"
Emily's kidneys were failing quickly. Her dad, Joe, was a match for transplant. Then, as the disease progressed, it brought additional challenges - including two bouts with cancer.
"Things just kept getting worse and worse. And we were like, 'We have to beat this. She cannot be a statistic in this way,'" Erin recalled.
For them, each day - each birthday - is a celebration, but 21 was monumental. An adult with SIOD?
Rachel Johnson, MD, leads Emily's care at Nebraska Medicine.
"As she's moved to an adult age, there's been a lot of transition of her specialists from the pediatric world to the adult world, and that can always be really challenging," she explained.
Because, the heartbreaking reality is, typical life expectancy with SIOD is nine years.
When asked what causes the disease, Johnson explained, "(Emily's) DNA has missing pieces and so, it just ends up affecting how all the cells develop."
It also affects every part of her body. Emily's had 65 surgeries so far.
"Such bravery and courage. Oh, and she's a little spitfire! And I feel like that is what has brought her through a lot," Erin said of her oldest daughter.
Erin and Joe have been just as tenacious - relentlessly advocating for Emily, and other families worldwide through their Little Giants Foundation.
"To further research, that some day, this may be a disease we have a cure for - a treatment for," Johnson said of the family's work.
Little Giants-funded research is happening at Stanford. Erin says, beyond SIOD, it's showing promise to also eventually impact neurological conditions like dementia.