By Ranae Baker

Some people ask the best questions! Have you met Kristin and Dan Shelton? They are both engineers by trade, and the intersection where that education meets with their hemophilia B experience is helping the community. When they joined The Coalition for Hemophilia B, they jumped in with both feet!

Kristin, at Kim Phelan’s urging, started serving on the B2B Pfizer Advisory Group almost immediately and helped create their B2B books. I sat down to a Zoom interview with her to find out more about her story.

The story of the Shelton’s journey from Alabama to Missouri to South Carolina, and the multiple doctors with whom they tried to reason with before finding their “wonderful” current situation, reveals their nononsense intelligence and dogged persistence. Five doctors, four children (three with hemophilia B,) and three states later, they still have questions, and they also have some very useful solutions!

Bleeding disorders were nowhere on their radars before their first child, Danny, was born. (See Factor IX newsletter article, Danny’s Dose, Winter 2022.) By the time he was diagnosed, at ten months old, with severe hemophilia B, Kristin was pregnant with their second.

Danny’s case was taken seriously and he was prescribed prophy. Dan’s work in mine engineering made it difficult to live near HTCs, but he began keeping a spreadsheet record of Danny’s measurements.

“Every time we get new data points,” Kristin explains, “we’ll look at Danny’s logbook and say, ‘OK, they did a blood draw on this day. This is what the factor level came back at. This is how many days it’s been since he had factor. We’ll double check the equation and make sure the number is falling in line with it.”

“Equation?” I ask. “Is it rare for families to go about it in this way?”

“What I’ve seen,” Kristin starts, “Is that there are a lot of families who follow the doctors’ wishes blindly. I also think doctors are given more credibility on the math end of things, when many of them are not very good with data sets like this.

“When Danny was first diagnosed, we got upset, because according to MASAC guidelines you should do your infusion and then check after so many days to see what your levels are. This would help ensure your dosage is correct for your levels and metabolism, but the doctors wouldn’t do that.”

We said, “Okay - if Danny’s going to start this regimen, then where are the data points? Are you just grabbing this arbitrary number of factor and increasing it if he has a bleed? Surely, there must be some data that we can go off of!”

The doctors in Alabama started Danny on a very low dosage. When Kristin and Dan calculated the dosage based on his factor level of 1% and his weight, they discovered it was half of what Danny should have been taking according to the product insert. Dan presented the doctors with his graphs and calculations.

“We became the family of ‘Just give the Sheltons whatever they want,’ because we took data to them!” Kristin laughs. “But they never answered our questions about where they were getting their numbers from. If you’re giving these prescriptions out, shouldn’t you have a reason you’re choosing these points?”

Even their current hematologist, whom they respect, erred prescribing Danny’s new long-lasting product by calculating it for one week instead of two. When the Sheltons noticed that Danny wasn’t making it to the two-week mark, they pulled out the insert, did the math and figured out the mistake.

“There is a lot more content on that insert than just warnings.” Kristin reflects. “Many people don’t realize that the equation is on there, and the equation is different for every product.” Kristin and Dan realize they have experienced in following the math, but math is not in everyone’s wheelhouse. Might they consider leading a webinar? Stay tuned!

During her second pregnancy, Kristin was tested and diagnosed with hemophilia B. Despite an early life riddled with missed symptoms of a bleeding disorder (e.g., unexplained bruises, fatigue, bleeding gums), Kristin wasn’t diagnosed with hemophilia B until then.

“I thought a little bit of blood was a normal part of brushing your teeth,” she recalls, “and no one really ever told me what normal vs abnormal bleeding was when I started my period.” Her diagnosis put everything into perspective though, and she knew she wouldn’t allow the same dismissal of her daughter’s symptoms.

“We knew to watch our little girl carefully,” Kristin starts. “From the get-go, Lilyan had many red flags. She would cry and pop blood vessels in her eyes. She would bruise easily and the bruises would take weeks to heal.”

Kristin remembers. “We spoke to Danny’s hematologist to have Lilyan tested using similar evidence of symptoms as her brother, but they refused, stating ‘ethical concerns.’” Kristin and Dan protested saying, “Well, it wasn’t unethical to have our son tested. You said he possibly had a bleeding disorder and went right to genetic testing.”

Kristin and Dan pleaded their case, reminding the doctor how far away from the hospital they lived and how necessary a medical alert bracelet was for their baby girl. The doctor wouldn’t budge.

“So, we went to a second hematologist in Alabama, and were given the same excuse: “There’s no reason to test her because even if she (tests positive,) she’ll only be a carrier.” The Sheltons were angry.

When Lilyan was a year and a half, the Sheltons moved to Missouri. Kristin set about advocating for Lilyan to be tested at a St. Louis HTC. She was such a squeaky wheel that, Kristin says, “I think they finally got annoyed with me and said, ‘Just test this kid!’”

Lilyan had the genetic testing done, and her factor level was 30%. Kristin felt vindicated, but any feeling of satisfaction immediately dissipated when the hematologist refused to write a factor prescription for her daughter. So, they headed to a second St. Louis hematologist.

“That HTC hematologist told us they wouldn’t give her a prescription for an unacceptable reason.” In brilliant Mama Bear mode, Kristin looked the doctor in the eye and said, “That’s a crock. If that’s what you want, you put that in writing.” The doctor said “Okay, we’ll give you a prescription.”

Dan and Kristin still marvel at the fact the doctors did not want to test a girl for hemophilia B, calling it “unethical. “We got the prescription for one, tiny dose of factor for her.”

After a playtime accident where Lilyan banged her forehead, resulting in a unicorn-horn-like bump, their doctor advised them to go to the hospital emergency room in St. Louis, an hour and a half from where they lived. In the ER, an MRI was ordered, but the hematologist never came down to look at her.

The ER doctor didn’t seem to understand bleeding disorders and sent them home. Eight years later, they can still feel the scar tissue in her forehead from that bleeding event.

Meanwhile, Kristin and Dan welcomed two more daughters. They suspect one does not have hemophilia and one has a case very much like Kristin’s.

Two years ago, the Shelton’s moved to South Carolina. Kristin walked into their new HTC with data and pictures and said, “This is what we are up against and nobody else has listened.”

The young, female hematologist was receptive to treating Lilyan. At ten years old, Lilyan received her first dose of factor for a leg bleed and was amazed at how much better her wrists and other parts of her body felt. “It was heartbreaking.” Kristin remembers. “Lilyan is now on prophy,” Kristin is thrilled to report!

One of Kristin and Dan Shelton’s favorite things to do is sit on their South Carolina back patio after the kids have gone to bed and talk about the “what ifs.”

“I think it’s fascinating to look at the evidence of things and to ponder ‘What if things were different?’” Kristin muses.

“What If the health industry treated women and girls with the same consideration they give the men and boys? In my opinion, in the hemophilia realm, women get thrown by the wayside, because we don’t have the typical symptoms as men.” Kristin states, “I believe the biggest mistake is that women are not being treated with factor. Heavy periods lead to fatigue, lost time at work, and chronic anemia which causes gum disease and early tooth decay. Chronic joint bleeds lead to surgeries for joint replacements much earlier. All of this leads to a diminished quality of life for women with bleeding disorders.”

“What if women were included in more medical research trials?”

“What if we could get better tracking of factor levels based off of hormone fluctuation?”

Kristin is looking forward to putting her education in environmental engineering to use in the next few years. Meanwhile, she has found that her environment within the hemophilia community could use some engineering. Her call to action is that we keep pushing for research for girls and women. Ask the insurance companies and medical establishments to follow the data without bias.

What if...?