DNA test helps 3 generations of women solve health puzzle

A childhood full of doctor visits makes more sense after Sanford Chip results

inherited condition with Sanford Chip: Kristi Curl Mandsager sits in her dining room talking to an interviewer

Kristi Curl Mandsager has dealt with medical concerns her whole life. Out of necessity and curiosity, she has become an expert in investigating and explaining her health, something that eventually guided her to the Sanford Chip.

The Sanford Chip is a blood test that examines your DNA and may help doctors find the right dose for a medication. It is also possible for the test to identify a predisposition for certain diseases.

The Chip gave Curl Mandsager insight into her pharmacogenetics. That is, the study of how heredity can potentially affect response to certain drugs.

For her, this element of the screening shed light into how her body treated a prescribed medicine.

Chip leads to adjusting medication

Curl Mandsager was already investigating the possibility that something wasn’t quite right.

“It was a medicine for anxiety and depression,” Curl Mandsager said. “I kept thinking, ‘Wow, I shouldn’t be this anxious about this stuff.’ It was because my body was metabolizing it too fast. So it was like I was without medication after 12 hours instead of 24. It was like, ‘I don’t feel like I’ve taken anything.’”

“For Kristi, this was a great opportunity to get the Sanford Chip,” said Dr. Cassie Hajek, an internist and specialist in genetic medicine for Sanford Health.

However, the Sanford Chip brought additional medical knowledge for Kristi and her family.

Inherited condition

“The biggest revelation was finding out I had malignant hyperthermia,” Curl Mandsager said. “It was kind of scary learning how bad things could have been and we would not have been aware of it.”

Malignant hyperthermia is a disease that can cause a fast rise in body temperature and severe muscle problems when someone with MH gets general anesthesia.

“The Chip identified that she had that,” Hajek said. “That’s part of the disease predisposition component of the Chip.”

The process began when her mother Sheryl decided to have the test done. That screening led to knowledge that she had MH.

Curl Mandsager saw, based on her mother’s test, that this was a hereditary condition. Naturally, she was curious about whether she also had it.

“My mom’s genetic counselor gave her letters to give her kids and siblings that let everyone know she had this complication,” Curl Mandsager said. “They found pretty much the same thing with me.”

Hence without the Chip her mother would not have known about the malignant hyperthermia and by extension, Curl Mandsager would not have known she had it as well.

Making changes

This was significant based on her complex health history.

In college she discovered she had ulcerative colitis, a bowel disease that causes inflammations and carries with it a wide range of potential symptoms of varying severity and duration.

Subsequently, that has led to the removal of her appendix and gall bladder. She also had a hysterectomy.

Those procedures took place before Curl Mandsager knew she had a condition that could potentially complicate any future surgery.

That has led to changes. When Curl Mandsager, her mother, or her daughter visit the doctor they make sure they explain the condition.

Affecting the future

Curl Mandsager goes forward assuming her teenage daughter also has malignant hyperthermia. This means the benefits of her mother’s decision to take a genetic test have directly helped her, her mother and her daughter.

“I really like to share the genetic stuff,” Curl Mandsager said. “When people ask me about it I’m like, ‘Oh my gosh, you know, it’s 50 dollars. Do it.’ And I tell them about all the things I found out, so many things that can help me in the future.”

Curl Mandsager continues to deal with several hardships connected to a complicated medical history. She and her health providers can move forward, however, with more information.

“It’s a tool that my doctors can utilize,” Curl Mandsager said. “If they were trying to help me with pain management or if I had high blood pressure — those medications I don’t metabolize properly are on that list. It gives them a place to start without having to do a lot of trial-and-error.”

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Posted In Genetics, Internal Medicine, Pathology

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