A Mission for Research
Lexi Valentine wants to be the kind of doctor who researches disease.
This 9-year-old Sioux Falls girl with a quiet smile and almost always a stuffed animal close at hand has spent plenty of time with doctors in hospitals and exam rooms. While it may be a few more years before she can put on a white lab coat to help fight disease with science, she’s doing her part right now.
“I want to be able to help other kids like me,” says Lexi, snuggling with a stuffed peacock toy in a Sanford doctor’s office. “It’s something I can do to help.”
Lexi, who was diagnosed this summer with a genetic disorder that regularly causes her unexplained pain, fever, fatigue and inflammation, decided to enroll in a new registry for rare diseases. The Coordination of Rare Diseases at Sanford (CoRDS) Registry is designed to help accelerate research, to find cures and treatments for patients like Lexi with rare genetic disorders.
When Lexi was an infant she started showing the first perplexing signs of her condition. She couldn’t digest food and her immune system seemed to be weak. Often she would get sick with fever and she had immune inflammatory problems, reacting with inflammation, rashes and sores to exposure to everyday things like metal or grass.
“It was apparent from very early on that Lexi had something wrong,” says her mother, Carrie Valentine. “Then the work began to try to help her.”
The little girl with big dreams has had to deal with health problems that few people understand. Early on, Sanford specialists diagnosed her with eosinophillic gastroenteritis, a condition that causes a variety of gastrointestinal difficulties. Other conditions have been diagnosed over the years, but it wasn’t until this summer that doctors identified the rare genetic disorder that caused so many unexplained symptoms.
Lexi says she was sad to miss school so regularly. She’s had to make adaptations, such as sitting at school at a specially made wooden desk instead of a metal desk and eating with plasticware that looks like metal silverware.
A love of learning
Still, she enjoys school and learning, proudly displaying the life-size model she made of the organs of the body that now hangs in her father’s office. Her eyes light up as she talks about a series of books that has captured her imagination.
“Lexi is the kind of kid who has always found joy and blessings in everyday life,” her mother said. “She does a great job of staying positive.”
For several months, Lexi had gone to Sanford Children’s Hospital for an intravenous infusion of drugs to help her body deal with her condition. However, doctors told her family this summer that it was getting harder and harder to administer the drugs via the veins.
As specialists ran some new tests, they diagnosed Lexi with a rare genetic condition called Hyper-IgD Syndrome (HIDS). For the first time, they understood why Lexi had suffered such a variety of seemingly unrelated symptoms. It also ruled out putting in a permanent port in her body, since she would be likely to reject the materials a port would be made out of.
Instead, Lexi and her parents learned how to administer her medicine with tiny needles and a pump into the subcutaneous layer, the area between her skin and muscle. The new treatment has her feeling better and being able to do it at home just twice a week frees up the whole family’s schedule. Now Lexi can travel and do more of the activities she likes, like riding Arabian horses and her new passion, playing volleyball.
“I love to serve,” Lexi says, shyly.
Finding a way to help
Lexi and her parents recently were called to help another family who needed to learn how to give their child a subcutaneous infusion. There were happy to help out, they said.
“It’s a little thing, but it’s something she can do,” said Carrie
Lexi’s father, sports medicine specialist Dr. Verle Valentine, has worked at Sanford Research looking into the effects of concussion. When he heard about the rare diseases registry, it was gratifying to find out that Sanford scientists are looking to help children like his daughter.
“When you’re a doctor, your goal is to help people feel better and still you’re unable to help your own child,” said Verle. “It’s important that we look into ways to find better care and treatment.”
Lexi recently toured the Sanford Research Center, also attended the Sanford Promise Life Science Discovery Program. She hopes that by joining the CoRDS Registry, she can help scientists learn more about why she doesn’t always feel good and explore new methods of treatments. And one day, maybe she’ll join them working in the lab to find a cure for other kids like her.
“Finding out what you have is like having a tree with the branches coming out of it,” she says quietly, describing the way that her condition HIDS was the source of a variety of symptoms. “I hope that I can help other kids find their answers.”
Posted Date: March 2012