'Childhood Alzheimer's' killing 14

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LEFT: Mandy Baxter, left, and her 14-year-old daughter Amaria Granger look up at The Mirage’s volcano show in Las Vegas in April. Since Amaria’s diagnosis of Neimann-Pick Disease type C — a fatal neurodegenerative disorder — five years ago, her mother has made it a priority to share as many experiences with her as she can. BELOW: Phillip Potter uses a suction tube to clear Amaria’s airway and mouth after she choked on her dinner this month.

Mandy Baxter is pajama-clad and sleepy-eyed as she pads through the living room en route to her ultimate daily mom duty before a few hours of fitful sleep.

As the clock approaches 11 p.m., she tiptoes into her daughter’s room, leans over the home hospital bed’s safety rail, and digs gently through pastel strata of blankets, pillows, and finally a nightie top, which she nudges aside to expose skin and the stomach port of Amaria’s gastrostomy tube.

Mandy then delivers the medication only she can, an experimental treatment for Niemann-Pick type C shipped from a hospital in Chicago to the family’s home in Pueblo. Because it’s an experimental drug, home health professionals — such as Amaria’s older brother and night nurse, Silas — could face liability issues if they administer it.

Her movements are deft and more like a caress as she attaches the line connecting a syringe of dissolved oral meds to Amaria’s port and then slowly, slowly depresses the plunger, her eyes flicking from the syringe to her daughter, who’s asleep with her left arm hooked around a stuffed animal.

The drug isn’t doing much, if anything, to slow the progress of the rare genetic disease that’s killing 14-year-old Amaria Granger, but it’s one of the few defenses left in Mandy’s arsenal. It doesn’t make Amaria sick, require a trip to Denver or flight to Chicago — and an excruciating spinal tap every two weeks. (That experimental treatment didn’t work, either.)

As long as she’s trying, Mandy can stave off grieving. Not that she hasn’t cried oceans of tears.

As long as she’s trying, she can stave off the guilt and regret she knows will come, no matter what she does.

But trying means something different these days, after years of watching the genetic disease sometimes called “childhood Alzheimer’s” rob Amaria of her song and dance, her words, swagger and sass, on a rampage that won’t stop until it’s taken everything there is to take.

"I used to be so worried about getting more time with Amaria, desperately clinging to every hope,” Mandy said, of the time spent chasing a miracle that would bring back the little girl who used to tell everyone Justin Bieber was her boyfriend, knew all the words to her favorite songs and loved to tango around the kitchen with her mom.

“We spent the first few years spending all of our money and resources on chasing a cure that didn’t exist,” Mandy said “I was ruining the time that I had.”

Niemann-Pick type C is among a category of rare lysosomal storage disorders that interfere with the body’s ability to process cholesterol.

“If you can’t process the fats, then the fats have to go somewhere,” said Dr. Sarah Bryant, a Pueblo pediatrician who specializes in treating children with complex medical diagnoses, and who began seeing Amaria in early 2021.

In people with Niemann-Pick, instead of fats being routed to and used in the parts of the body that can turn them into energy, they end up where they’re not supposed to be, where they eventually build up and cause diseases in multiple organs, including the brain, Bryant said.

Though the symptoms of Niemann-Pick and Alzheimer’s are similar, in Alzheimer’s there’s a physical deterioration of the neural pathways.

With Niemann-Pick, signals don’t transmit because they’re traveling along routes that have been dammed up by misplaced fat deposits, Bryant said.

Seizures caused by such buildups are a hallmark, and catalyst, of Niemann-Pick.

The brain is amazing at finding workarounds when neurological paths "glitch," Bryant said. For a time patients often can still function in a way that belies what’s really going on inside.

As Niemann-Pick progresses, though, and patients suffer more buildup and more seizures, the abilities controlled by that neurocenter are irrevocably lost.

NPC affects every patient differently.

Some forms are fatal within a few months of birth, Bryant said.

Some patients diagnosed in infancy, who begin experimental drug therapy early, have successfully delayed the onset of symptoms, for years.

Amaria isn’t one of them.

Looking back, with what she knows now, Mandy is able to connect the tell-tale dots of Niemann-Pick.

When Amaria was about a year old, she had two episodes of what Mandy later learned was narcolepsy.

At age 3, she started having severe night terrors, and had begun inexplicably to gain weight.

“She was 100 pounds by the time she was 4 years old, despite the fact that she didn’t really eat,” said Mandy, 45, who was then living in Florida with Amaria’s twin older brothers, Silas and Marcus Swint, then in their mid-teens, and her longtime partner and Amaria’s de facto stepdad, Philip Potter, 52.

Marcus Swint, one of Amaria’s older brothers, lays his head on her chest after she is put to bed. One of the few ways Amaria can still communicate is by touch, her family members often lie their heads on her chest and shoulders and she will run her hands over their hair or hold their face in her hands.

Amaria was a sassy and whip-smart kid who could hold her own when talking with adults. But after Headstart and two years of kindergarten, she couldn’t yet read or write.

“The school system there had diagnosed her with mental retardation, but she was clearly intelligent, could hold all kinds of conversations with you, could memorize song lyrics,” Mandy said. “I just felt like something was not connecting, but she was not retarded. I just kept telling myself, year after year, next year she’ll catch up.

"She never did."

A year after the family moved from Florida to Colorado, in search of a home with better access to the care and support, Amaria suffered her first grand mal seizure.

“After that, literally everything changed,” Mandy said.

Within a few months, Amaria was losing her ability to eat and to swallow, and had to have a G-tube surgically placed.

“She didn’t know who I was for a period of time," Mandy said. "I would try to help her and comfort her and toilet her, just take care of her, and she would cower down from me like she was terrified of me.”

After that severe seizure — the first of many — Amaria spent a month in the hospital, undergoing tests as doctors tried to puzzle out what was going wrong.

Mandy remembers the day she learned they’d found an answer.

Phillip was driving them to breakfast, when Mandy got an alert on her phone telling her test results were in. She logged into the online medical portal, to read the words that would change all their lives.

“I Googled it immediately, because I had no idea what Niemann-Pick even was. They just said that it was always fatal … and they don’t make it through childhood,” Mandy said. “I remember making him just stop and let me out of the car. That was probably the hardest piece of information my brain ever had to process.”

Degenerative neurological diseases with delayed onset are especially horrible, because a parent has a chance to see who their child would become, were it not for the disease, Bryant said.

“You do see sort of normal growth and development and behavior for a while, and then you regress. You lose those things,” she said. “And that can really break people, and tear families apart.”

Parents who find themselves facing such a heartbreaking prognosis can lose themselves — and their savings — chasing desperate hopes, Bryant said.

At first, Mandy admits she was one of those parents.

She dove into online research, looking everywhere and pursuing every glimmer of hope. She finally found one in Chicago willing to treat Amaria, with spinal infusions of an experimental drug, if the family could get her there every two weeks.

What belongings they didn’t sell to help pay for those trips, they lost once their resources ran dry.

“Our car was repossessed. We were homeless, living in a motel … and were still trying to get money to get to Chicago,” said Mandy.

An “angel supporter” who lives overseas, who saw Mandy and Amaria’s story on social media, swooped in to pay when they no longer could.

“He has a child with the same disease, and just wanted to do whatever he could to help other parents going through that,” Mandy said.

Things eased up after a doctor in Aurora agreed to administer the trial drug.

After almost a year, however, Amaria was showing little improvement. Mandy said she was told Children's Hospital was pulling out of the trial.

Her hopes rose, again, in 2020, when she read that researchers were studying Niemann-Pick as part of the search for a COVID-19 vaccine. The reasoning? Because coronavirus is dispersed in the body via fat molecules, a gene mutation that prevents those cells from doing what they’re programmed to do could provide valuable insights into how to fight the virus.

“So many eyes were looking at Niemann-Pick type C … (but) looking at it for the purpose of trying to save everyone else,” Mandy said. “My thought, still, was that somebody would figure something out and find a way to treat this disease, but it’s been a couple years and nothing.”

Mandy unloads bags of Amaria’s medication at their home in Pueblo. Due to the side effects of Niemann-Pick, Amaria is on an array of medications that have to be scheduled and administered in a specific order and very specific times.

More and more, her mind kept drifting back to a conversation she’d had with a more-seasoned Niemann-Pick mom soon after Amaria was diagnosed.

The woman no longer called the ambulance every time her son had a seizure. She wasn’t trying to get him into every clinical trial. She wasn’t doing any of the things Mandy was doing.

“I asked why, and she said that when her son has bad days, instead of calling the doctors and being stressed out and trying to figure out what’s going on, she loads him up and they go spend the day at the beach,” Mandy said.

At the end of the day, the woman said it didn’t matter what she did. No one was going to be able to save her son. All the struggle and chaos was “just making their days bad.” Neither were able to appreciate the joy that remained.

“At the time I didn’t understand her reasoning, but I feel like I’ve reached that point with Amaria,” Mandy said. “It’s not that I don’t care as much, it’s just that I value the time that I have with her differently than I used to.”

Surviving a diagnosis like Niemann-Pick, for parents, for a family, means accepting the reality that their child will die, and finding a way to make peace with it, said Bryant.

It means recognizing the point when quantity becomes the enemy of quality.

“Once in a while, there are parents who just can’t seem to process what’s happening, and either they sort of fall apart and sort of do nothing, or go the other direction … and drag their poor kid all over the world to trying to get some sort of treatment that is going to do something,” Bryant said. “And at times, we’re sort of at the point of causing more harm than good.”

Thankfully, most parents are like Mandy.

“She has the approach of ‘I’m going to accept the disease is real and that this is what it is, but I’m going to do everything in my power to maintain as much function, as much joy, as much quality in life, as possible,'” Bryant said.

Silas Swint, one of Amaria’s older brothers and her full-time night nurse, administers medication around 2 a.m. as she sleeps this month. Silas works as his sister’s nurse five days a week and administers her middle-of-the-night medication doses and monitors her oxygen and heart rate.

With help from Perla Valdovinos, center, Mandy bathes Amaria before bed. Valdovinos, who has a background in healthcare and is the longtime girlfriend of Silas, one of Amaria’s older brothers, took on the roll of helping care for Amaria in the evenings last fall.

That Mandy isn’t pursuing such goals alone is also a big factor in the level of care Amaria receives.

Both of her boys, twins Silas and Marcus Swint, now 25, were attending college in Chicago on football scholarships when Amaria was diagnosed. Silas transferred to a school in Florida, became a registered nurse, and as soon as he passed his boards moved to Colorado to serve as Amaria’s night nurse. Marcus finished out a pre-physical therapy undergraduate degree, then joined the family in Pueblo. Silas’ girlfriend, Perla Valdovinos, works in the health care field and helps out with Amaria. Marcus’ girlfriend, Macayla Klipfel, is Amaria's physical therapist.

And Phillip is always there, by her side.

“Yeah, this is kind of a roller-coaster, and also a family affair,” he said. “And Amaria, she's just a trooper. She puts up with all of us."

Mandy, right, and Phillip, left, adjust Amaria in her wheelchair as she comes out of a partial seizure on the Las Vegas Strip on April 14. Before Amaira lost her ability to speak, she shared dreams of seeing New York, the Statue of Liberty and Eiffel Tower. With limited funds and difficulty traveling, Mandy knew that seeing the real monuments wasn’t an option, so the family embarked on a weekend trip to Vegas to show Amaria the world.

Amaria turns 15 at the end of August.

Mandy can still see glimpses of the sassy little girl she hopes is still in there, somewhere, but Amaria’s ability to communicate more nuanced emotions has diminished to mostly subtle flashes only those who know her well can read.

She's still able to make a point, when she wants to, said Phillip.

“We know her expressions. If she doesn't want something she'll squeeze your arm or grab you," he said. "And she's got those sharp, baby fingernails."

Eventually, they will have to take away any solid food. She's not going to be happy about that, Mandy said.

Amaria isn’t able to swallow and chokes on most of the small bites she’s given — “just so she can have a taste, then we have to suck it back out,” Mandy said.

Phillip Potter uses a suction tube to clear Amaria’s airway and mouth after she choked on her dinner on May 4.

Someone must be on watch constantly as Amaria eats, ready to clear her throat using a suction device that runs constantly throughout mealtimes.

“I feel awful about that, taking away one of the few joys she has left,” Mandy said.

Soon, they will have to take Amaria in for Botox injections to control the painful cramping in her legs.

“After that, she won’t be able to stand, at all,” Mandy said. “I just feel like I’ve taken so much from her, that I want to give something back.”

Amaria once dreamed of growing up and living in New York City, taking Broadway by storm, and traveling the world.

Mandy couldn’t give her those things, but she could do something. Las Vegas.

They scrimped and saved for a year, to pay for plane tickets to Las Vegas and two nights at a hotel at the far end of the strip, for Mandy, Phillip, Amaria, Marcus and Macayla.

They landed in Las Vegas on a Thursday afternoon in mid-April, collected their checked luggage, including a bag packed entirely with medical supplies, and boarded a limo Mandy had arranged to carry them from the airport to their hotel.

Amaria holds her stepdad Phillip’s hand as they ride the train to the baggage terminal last month at the Harry Reid International Airport in Las Vegas.

Mandy administers medication through Amaria’s gastrostomy tube at a table on the Las Vegas Strip April 14. When Amaria was first diagnosed with Neimann-Pick C, Mandy met another woman whose son had the same disease, but he was much farther in the progression at that point. “I thought why isn’t she doing all the things I’m doing. Why isn’t she trying everything. She told me I’d get to a point where when Amaria wasn’t feeling well I’d want to take her to the beach not the doctor.”

That night, they took a walk and stopped at a fortune-telling machine outside a souvenir store that proclaimed itself the “World’s Largest Gift Shop.”

Mandy fed a dollar into the Zoltar machine, promising the first fortune would be Amaria’s.

The ticket popped out and she started reading, but then choked up and had to hand the fortune to Phillip, who continued.

“Time is the most valuable currency. You will never be able to get lost time back or buy more. Spend it wisely, my friend …” Phillip recited.

He handed the fortune back to Mandy, who put it in a special place in her bag.

As soon as they got back to Pueblo, it would go in the memory box that holds all the special trinkets from the good times they’ve had amid all the bad — a clipping, from Amaria's first haircut; wolf ears from their trip to Great Wolf Lodge, and reminders of the prom Mandy threw for Amaria last year in Pueblo, because her daughter would never get that traditional high school experience.

Amaria’s dress for her prom-themed birthday party hangs in the doorway of her bedroom next to a whiteboard listing her medications, dates she’s had seizures and other important medical information. At the birthday party Amaria had her first dance and was crowned prom queen in front of dozens of guests, including a group of local high school students that came in effort to give her a true prom-like experience.

Mementos Mandy will appreciate, that she will need to see and touch and cry over, someday. But not today. Not yet.

The family spent two days in Vegas, walked for miles along the strip, attended a performance of Cirque du Soleil and went to the Marvel Avengers exhibit. Mandy showed her Amaria the sights — the Eiffel Tower, the New York skyline — as though they were the real thing.

They also hit The Mirage, to see the volcanoes.

The faux eruption bathed them in an explosion of sudden heat and light. For a brief moment, Amaria seemed rapt before turning her head to Mandy, crouched by her wheelchair, and burying her face in her shoulder.

“She don’t care about Las Vegas,” Phillip said, with a warm laugh. “She just wants her mama.”

PUEBLO • It may be mid-August, but prom season was in full swing for Amaria Granger Thursday evening.

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