Feb. 29 was a day of torn emotions for Cindy Just.
The 44-year-old Eagle River mother reminisced about her recently deceased 14-year-old daughter, Lindsey, who contracted a rare blood disease last fall and died in late December. She cried as she talked about Lindsey’s bright smile and mostly cheery attitude despite all the medical problems life handed Lindsey.
But Just also cherished the fact that it was World Rare Disease Day — a day on which rare diseases most pharmaceutical companies don’t want to invest research dollars in because the return isn’t profitable.
If you are Facebook friends with Just, you were inundated with posts about this day. She was on a mission to get the word out about diseases such as HLH — the one that struck her daughter.
“So many doctors never even see a case HLH in their lifetime,” Just said. “That is part of why it is so difficult for them to recognize it. But if it is not diagnosed, it is fatal. Two out of every five cases of HLH is diagnosed at autopsy. That just isn’t right.”
There are two types of HLH, which is short for hemophagocytic lymphohistiocytosis. The first called “primary” is caused by an inherited problem of the immune system. Due to its genetic component, it is more commonly called “familial” HLH.
Secondary HLH — the type Lindsey had — still baffles doctors and research scientists who cannot yet determine for certain what triggers the disease. HLH causes a malfunction of T and NK blood cells that usually destroy damaged or infected cells as part of the immune system’s daily work. Instead, the damaged and infected cells that “normally” are handled by the immune system damage body tissues and organs including bone marrow, brain, liver and kidneys.
Researchers do suspect that exposure to another infectious virus can trigger HLH. One of the leading culprits is the Epstein-Barr virus (EBV) that causes Mononucleosis (mono). Lindsey did not have mono, but she tested positive for EBV, Just said.
Her family cannot figure out how she contracted it.
“She just must have been around someone that sneezed,” Just said. “We don’t know.”
What Just does know is that it doesn’t seem fair that her daughter, who had Down syndrome and significant heart issues, should be taken by a rare blood disease that had nothing to do with the numerous medical challenges she dealt with in her short life.
Lindsey was born in 2001 with a heart defect. At 4 months of age, she underwent major heart surgery to repair the damage. In the process, her lungs were damaged by the heart bypass machine. She had to have a tracheotomy.
She was hospitalized for another six months before her family could bring her home. Even then, her room looked more like an intensive care unit than a little girl’s bedroom, Just said. Lindsey required 24-hour nursing care.
“It was all pretty crazy,” Just said as she talked about her daughter’s early years.
Lindsey was on a ventilator and oxygen. She had a feeding tube because doctors felt digestion would be too much work for her body to complete. She had chronic lung disease.
“She always was pretty high maintenance,” her mother said, referring to her daughter’s medical needs.
But as doctor’s predicted, Lindsey grew new, healthy lung tissue as she aged. By 2005, the tracheotomy was removed. She was breathing on her own. She didn’t need oxygen.
She was still pacemaker dependent, but she was also independent of machines and tubes.
And she was a fighter.
“She had so many procedures but every time we went to the hospital, she would be happy and she just bounced right back,” Just said.
Lindsey went to public school as a student in special needs intensive programs. Her physical ailments and even speech delays did not impede her mental abilities. She did well in her academic program.
She was a client of Eagle River’s Family Outreach Center for Understanding Special Needs (FOCUS) and participated in its camp programs and other social activities.
Lindsey loved purple — anything in the color of purple made her eyes light up and spread a massive smile across her face. Much of her clothing was in the purple hues. As with any other teen, she knew what she liked to wear and didn’t like to wear and was outspoken about those choices, her mother said.
Her favorite video series was “Signing Time” starring Rachel Coleman, which teaches American Sign Language to children. What began as a tool for Just to help her non-verbal daughter learn to communicate became a social phenomenon for Lindsey as well as the subject of her “Make-A-Wish” request.
In October 2015, just a bit more than a month before high fevers and extreme tiredness took over, Lindsey got her wish to attend a Rachel Coleman concert.
The request was for Lindsey to attend a concert in the Lower 48, perhaps in Salt Lake City, where Coleman lives. But when Coleman learned of Lindsey’s dedication to “Signing Time,” she said she would come to Anchorage and do a private concert. Cyrano’s Playhouse in Anchorage donated its facility for a private concert in which family members from Alberta, Canada, were also flown in to attend.
“Rachel sang whatever song Lindsey wanted, but by the third song, Lindsey was up on the stage with her signing to everything because after all, she had known all of those songs for more than a decade,” Just recalled.
She added, “Of course, none of us knew at that time that she was sick. So the timing was really quite providential. Then, she was just a bouncy, happy kid. A normal teenager.”
It all changed quickly. By early November, the crisis began.
Lindsey had high fevers. Her blood pressure dropped. She was lethargic.
Doctors at the children’s department at Providence Alaska Medical Center in Anchorage, who were already familiar with Lindsey, tried various heart medications. She would stabilize, temporarily.
Lindsey met Sen. Lisa Murkowksi when she came through the hospital. Lindsey’s aide, Gussie Britnell, fed her applesauce in the hospital, as the teen seemed to recover. But then the symptoms returned.
“It just seemed like we were on a big roller coaster,” Just said. “She would be fine one day, and then the next she was anemic and had the high fevers again.”
A line of specialists reviewed her case: an infectious disease expert, a kidney function specialist, experts in lung function, the cardiologists who were involved in her earlier medical challenges.
“They would stand out there at the desk in the ICU and try to figure this out,” Just said.
Test after test was run. Finally, Lindsey had yet another medical emergency in which her blood pressure plummeted and her kidneys stopped working. The decision was made to send her to Randall Children’s Hospital at Legacy Emanuel in Portland, Ore., where her heart was first repaired when she was 4 months old.
She was airlifted out on Nov. 3, 2015. Four days later, Lindsey crashed again: escalating blood pressure, kidney failure and respiratory distress.
Just was beyond frustrated. Instead of relying on the test results sent from Alaska, doctors at Randall ordered a new set. She wonders if the re-testing wasted precious time in coming to a diagnosis for her daughter.
“Had they come to a diagnosis sooner, could Lindsey have been saved?” Just questioned. “I don’t know.”
Family members again gathered — except this time it wasn’t for a fun concert. It was a potential death watch.
But as before, Lindsey rebounded. She started to go the bathroom on her own again. Nurses discovered she had chewed a hole in her breathing tube. It was removed and she was breathing fine on her own.
She still had the fevers, but she was watching her movies — “Signing Time” included — and smiling. Her blood was acting odd — she needed red blood cell transfusions every other day. An oncologist joined what was dubbed “Team Lindsey.”
While HLH is not a cancer, it behaves like one and is often discovered through similar testing. In the case of HLH, the elevation of a blood marker called ferritin is a diagnostic clue. Healthy people have a level of less than 100. Anything 10,000 or higher is considered “diagnostic.” Lindsey’s was 135,000.
“I had never heard of such a thing before. I thought, ‘What on earth is this?’” Just said. “But I quickly learned anything and everything I could about it.”
Lindsey underwent chemotherapy and radiation. She lost her beautiful ash-blonde hair, cut in the swingy bob style that had grown to her shoulders. She became so thin that the bones in her arms and legs were visible.
Just watched and tolerated the demise of her daughter’s physical appearance because at first the treatment seemed to work. Unfortunately, that was a short-lived hope.
Her blood stopped responding to the chemotherapy. The HLH infected cells were taking over. Doctors gave Just and her husband, Mark, the news that they were out of options.
“They told us there was nothing else that they could do,” Just said. “The HLH was out of control. Lindsey was going to die.”
Her only hope — a bone marrow transplant — was not feasible because of her weakened heart. She needed a mitro valve replacement and doctors were certain she would not survive that either. Her heart functioned at only 25 percent.
Her liver, lungs and kidney were under HLH’s control. Her parents were thankful that Lindsey’s brain and central nervous system were not impacted, but they had great understandable difficulty accepting the doctor’s words “that any further treatment would be considered futile medical treatment.”
“How do you wrap your head around something like that?” Just asked. “Anything they did would not cure her but only prolong her suffering.”
On Dec. 21, the Justs were functioning on auto pilot. Lindsey’s hospital room was decorated for the Christmas holiday. They were waiting for Mark’s parents to join the rest of the family for a day of goodbyes on Dec. 22. Lindsey was struggling and additional heart medications were administered to keep her alive.
One by one, each of the family members — her 17-year-old brother, Lucas, her aunts, her grandparents — spent time with her that day. By 7:30 p.m., the only goodbyes left to say were from mom and dad.
The Justs laid down on the bed with their daughter — one on each side of her.
“We just talked to her,” Cindy said. “She was not awake. All of the medications made her really drowsy. I hope she heard us.”
Finally, a couple hours later, they decided they were “ready” to end their daughter’s suffering.
“We told the staff, ‘OK, we are ready,’” she said. But, she added, “How can you ever be ready for something like that?”
Hospital staff removed breathing support and stopped the heart medications. The Justs had no idea how long Lindsey might remain alive. The staff had told them it could take another day before her body gave out.
“We were still on the bed with her, and I had my hand on her chest ,and within a couple of heart beats after the support stopped, her heart stopped and she stopped breathing,” Just said. “I had never seen a person die before and here was our precious daughter gone just like that.”
In her memory
Two months later, the Justs are still grieving.
Just, who did not work outside the home so she could help meet Lindsey’s overwhelming medical needs, said she still doesn’t know what to do with herself.
“I became a specialist in Lindsey,” she said. “Now what do I do?”
She’s learning to quilt. She plans to make blankets for children’s hospital in memory of her daughter.
She wants to somehow make the enormous amount of “Signing Time” materials and videos Lindsey was gifted available for public use. As part of Lindsey’s “Make-A-Wish” experience, she received every bit of material ever produced by “Signing Time” and a lifetime pre-paid subscription to any future products.
Just said she’d like the materials made available for others to use, but not just give to one person. Perhaps the library or a social services agency might be interested. She wants it to include information about Lindsey so that others will learn of the girl whose smile brightened the day of anyone who saw it.
“She was sunshine whereever she went,” Cindy said.
• Amy Armstrong is a freelance reporter for the Chugiak-Eagle River Star. She can be reached at amyarmstrong@gci.net or online at facebook.com/pages/Armstrong-Communications-Words-by-Amy-Marie.
Learn about World Rare Disease Day online at www.globalgenes.org/world-rare-disease-day.
