Wearing a white T-shirt with a massive star in sparkling shades of pink, yellow and seafoam green on the front, Morgan Kozole sits in front of a fold-up chalkboard in the living room of her family's Detroit-area home and starts to draw.
Using pink and yellow chalk, she sketches Mickey and Minnie
Mouse. The Disney characters are dominant fixtures in the 5-year-old's life and
therefore become a soundtrack for the Kozole family: Morgan constantly saying
"Mickey," with her long, blond ponytail bouncing to whatever song
happens to be playing on the Mickey Mouse Club.
"These are the two Mickeys," Morgan says, pointing
to the chalkboard. Her mother, Detroit Lions senior vice president of business
development Kelly Kozole, explains that this is her way of communicating that
she would like a visitor to draw Mickey too. If it's close, Morgan accepts it.
Another Mickey to fawn over.
For Morgan's birthday earlier this year, the family went to
Disney World. On this trip, the Kozoles saw what they had longed for: the
potential of progress.
"She knew where we were. She knew Mickey Mouse,"
Kelly said. "Before, she wouldn't go to the characters, and now she's
jumping up and down, hugging. She really, along those lines, is also really
into birthdays.
"The 'Happy Birthday' song. Before that, she was just
kind of looking. Sometimes it was too much for her with everyone singing --
sometimes loud noises are too much. This year, we had to sing 'Happy Birthday'
to her three times."
Birthdays, for children, are happy occasions -- reasons for
grand celebrations of progress toward adulthood. For the rest of Morgan's
family it is more complicated.
Morgan has a rare neurological disease called beta-propeller
protein-associated neurodegeneration, known as BPAN. It's a disorder, more
prevalent in girls than boys, that causes delayed development and seizures,
communication issues and, sometimes, motor dysfunction. It's unclear exactly
how many people are living with BPAN worldwide due to its rarity, although Dr.
Sami Barmada, a scientist at the University of Michigan studying BPAN,
estimates roughly 500 to 600 people.
It's rare enough that Dr. Henry Paulson, the director of the
Michigan Alzheimer's Disease Center, said there are experts in neurodegeneration
who are unfamiliar with BPAN. While Kelly is trying to advocate for her
daughter and others with BPAN through fundraising for research, science moves
only so fast.
The Kozoles understand that. So birthdays for the family
aren't always happy. They are a reminder of what could come.
"That ticking time clock," Kelly said. "Every birthday isn't exciting for me for her. Because it's one year closer to when this bomb is going to go off."
BPAN's rarity makes the reality heartbreakingly simple:
There are very few effective treatments, little research and no cure. As Morgan
learns how to organize her Peppa Pig characters and learns new words on her
iPad -- her future looms.
At some unpredictable point in Morgan's teen and adult years
-- the average is around age 25, according to Barmada -- development will just
stop. Progress will decline and, in some cases, disappear. Those afflicted with
BPAN begin suffering from progressive dystonia parkinsonism -- making it
difficult to walk, talk or stand.
"Any day," Kelly said, "it could be like,
'Oh, your daughter's gone.'"
When Morgan was born on Jan. 12, 2015, she was, largely, a
healthy baby. She was a little jaundiced but nothing worrisome.
When she would go to the doctor's office for shots, Morgan
didn't cry. It was a little abnormal, but when you're a parent of a young
child, no crying is viewed as a minor miracle. Kelly and her husband, Kevin,
took this as a sign of a tough kid. Nurses even said how great it was.
Looking back, it was a warning sign that something was
wrong. BPAN causes a high pain tolerance. Before long, more concerns popped up.
Morgan wasn't crawling at nine months, wasn't walking at a year. Expected
milestones passed without Morgan reaching them. Kevin and Kelly put her in
therapy in late 2016 to work up to these childhood progressive traits and began
researching potential causes. They wouldn't find an answer for more than two
years.
"She was diagnosed with cerebral palsy at first. One
doctor diagnosed her with that, and then another, our neurologist, said she
doesn't have that," Kelly said. "Then there was speculation but not a
full diagnosis she had autism, so we did all the tests for that.
"So through this kind of journey of trying to find out
what was wrong, it was exciting that she didn't have something that you were
going to this test for, but you still had so many more questions as you were
eliminating all these potential diseases that she could have."
Befuddled, they began genetic testing and in November 2018
received a letter about a mutation on Morgan's WDR45 gene. Kelly Googled it,
stumbled upon BPAN and freaked out, calling their neurologist. The neurologist
told Kelly not to worry -- BPAN was very rare, and Morgan didn't have it.
Doctors diagnosed her with epilepsy because of seizures. Morgan took Keppra, which helped accelerate her vocabulary to about 50 words, typical for a 1-year-old, when she was 3. Then doctors said no, it wasn't epilepsy either.
Another meeting with another neurologist led to a different
diagnosis. Three days after she and Kevin returned to Michigan from Super Bowl
LIII in February 2019, they received a call. Doctors figured out what was
wrong.
It was BPAN.
"In my mind, it's worse than cancer," Kelly said.
"How is this even possible? That this can even be so painful for kids
later on in life. You try so hard to gain all these abilities, and then early
adolescence or early adulthood, it's just [gone] one day, and I've seen a lot of
these stories.
"There's a BPAN Facebook website, and that's where the
doctors sent us. There's no cure. There's no therapy. 'Go to this website.'
That's what I was told."
For months Kellycried, angry and heartbroken. The Kozoles
initially told their families and no one else.
In May 2019, Kelly went to her first Neurodegeneration with
Brain Iron Accumulation (NBIA) conference. She met other parents, heard their
stories and began the new normal.
She used her skills -- organization, fundraising and business
-- to brainstorm ways to help. Hardly anyone had researched BPAN. Without it,
there would be no chance for a cure -- not in Morgan's lifetime, which could
reach her 40s, and not in the lifetime of those who might come after.
She shared what was happening with her boss, Detroit Lions
president Rod Wood, and his wife, Susan, using a website link to explain BPAN.
Wood knew something was wrong because of texts and emails saying they had to
take Morgan to this specialist or that appointment.
"As that was confirmed and became her reality, she is
now able to talk about it, in a way," Wood said. "Because she's full
bore on trying to help generate awareness and financial resources to find a
cure for it.
"She went from the unknown to the very tragic known to,
'OK, what are we going to do about it?'"
Kelly consulted her aunts, both of whom worked in medicine.
Linda Narhi worked in biotechnology for Amgen for more than 30 years; Dr. Diane
Narhi was the first female chief of staff at Simi Valley (California) Hospital.
From talking with another group of fundraising BPAN parents -- BPAN Warriors --
Kelly found a guide.
"Any day, it could be like, 'Oh, your daughter's
gone.'"
If her aunts had not been resources, she might have joined
BPAN Warriors. But Kelly admittedly needs to be in control, and this was her
daughter. She needed to manage this herself. She created a nonprofit called
Don't Forget Morgan.
Kelly's aunts provided guidance, and Wood offered contacts
he had in the finance industry and Silicon Valley. Wood and Lions general
counsel Jay Colvin sit on the board. Other Lions coworkers -- with Wood's
blessing -- built the website, designed the logo and created social media plans
and the first pitch video for Don't Forget Morgan's rollout in 2020.
Progress started with a $15,000 grant to help with a mouse
model study at Sanford Research in South Dakota, with another, larger,
potential grant to come. In recent months, Kelly has focused largely on
fundraising, and another parent of a child with BPAN, Christina Mascarenhas
Ftikas, has focused on the medical side of the nonprofit.
"This is why I'm here," Kelly said. "I'm
supposed to be a vehicle to get all of this awareness and hopefully a cure for
BPAN so the child one, two, three, five years from now, there is hope.
"There is no, 'Go to Facebook.' There is something
where you can actually give a parent, 'Here's the symptoms to look for.'"
About an hour away in Ann Arbor, Michigan, Kaci Kegler and
her husband, Brian, had been in the same Facebook community. Kelly, new to the
group and looking for a nearby connection, wrote Kaci a message.
"Hey, my daughter was just diagnosed, could we
connect?"
Kaci understood. She did the same thing, reaching out
without success in 2016 after her daughter, Elle, was diagnosed. Kaci wanted to
be a resource.
They talked for an hour. There wasn't much Kaci could say to
soothe her. Kelly pinged a year later with another message: I'm starting a
nonprofit. Kaci offered to help.
Despite suffering from BPAN, Morgan is like any other
5-year-old who enjoys playing with her brother, Connor. Michael Rothstein
Days later, on Feb. 28, Kaci and her husband, Brian, an
assistant athletic director for development at the University of Michigan, had
their yearly fundraiser for BPAN research on Rare Disease Day at Pizza House in
Ann Arbor. They met a doctor who had a connection to researchers at Michigan.
"I literally came home and texted [Kelly] and was like,
'Oh my gosh, we may have inroads,'" Kaci said. "We just started
texting. I have never met Kelly face-to-face. We still haven't. But we've
texted a lot and we've emailed quite a bit.
"It just kind of started."
By summer, they went from nothing to putting pieces in place
for a full-fledged research project with a two-year, $140,000 grant for Barmada
and Dr. Jason Chua to help start to solve BPAN.
Chua was working on the regulation of autophagy, which is
the cleaning out of damaged cells, and studying BPAN became a natural extension
of the work he had already been putting in. BPAN alters that in neurons.
Barmada said Chua's research provided a "rare win-win situation" to
potentially help with BPAN and other diseases too.
"There are a set of questions in BPAN that nobody has
the answer to," Barmada said. "And Jason and myself, we just seem to
be in the right position, the right place to be able to help out."
The goal is to understand what is happening within BPAN itself
and how people end up with it, while also trying to find therapies for existing
patients. Within a year, they are hoping to grow stem cells from people with
BPAN in their lab, allowing for the creation of their own stem cells missing
the WDR45 gene. Then they will try to either replace the gene or
"stimulate autophagy through genetic or pharmacologic means," Barmada
said. The hope is this can prevent neurodegeneration.
So far, they've hired a research assistant to work with
Chua, developed tools to manipulate the gene using the genome-editing tool
CRISPR and applied for approval from Michigan and the institutional review
board to get skin biopsies to obtain stem cells from BPAN patients.
It's a process, but it's also a start.
After partnering with Michigan and Sanford, Don't Forget Morgan
also began working with Dr. Kathrin Meyer, a researcher at the Center for Gene
Therapy at Nationwide Children's Hospital at Ohio State.
"Solving this disease is going to require more than
Jason and Sami," Paulson said. "It's going to be a first shot across
the bow, but it's going to require more than that. I'll say this, being in the
field for a long time. Scientists who are coming up the pike say they want to
look at Alzheimer's, want to look at epilepsy. They don't say, 'I want to look
at a rare disease.'
"The only way to solve a rare disease is to get someone
hooked. Sometimes when you hook a really good one, as I think we have with
Jason here, you hook them for life and they make a difference."
Morgan is bouncing around the Kozoles' suburban Detroit home
on this late August day. They just returned from northern Michigan, and having
two kids, especially one with special needs, makes tidiness unrealistic.
COVID-19 changed things. Morgan hadn't been to many of her
therapies for months. Online school barely kept her attention. There was
concern she would have regression in her learning. Instead, her speech advanced
by being around Kelly, Kevin and her older brother, Connor, all day. She has
sung more songs recently to help increase her vocabulary. Sometimes, she'll
listen 20 times in a row.
"Even more than that," Connor said. They aren't
sure how much she's truly learning versus memorization. But it is something.
Morgan Kozole has inspired her mother, Detroit Lions VP
Kelly Kozole, to marshal researchers and other advocates to develop a cure for
BPAN, and perhaps help future generations of children who live with the
disorder. Michael Rothstein
The family gathers inside Morgan's bedroom -- complete with
a special Haven Bed with a zipper to keep her safe from wandering around at
night, when she could accidentally turn on the stove and hurt herself or others
-- sleep disorders are another BPAN issue. She sits on the floor and starts
playing with her small, yellow dollhouse and a fake ice-cream maker. Kelly asks
for an ice cream. Morgan makes one for herself instead and pretends to eat it.
Later, outside, Morgan kicks a soccer ball and plays a
modified game of catch with a squishy football. Football, no surprise, is big.
She says "hike" a lot. "She knows that term," Kevin says,
laughing.
In these moments, Morgan seems like any other young child.
She attends St. Hugo of the Hills Parish School in Bloomfield Hills, Michigan,
but has a one-on-one para nanny to help. She interacts with people, often
overly affectionate.
Sitting at the kitchen table after playtime outside, she
plays with Starfall, a children's learning app, on her iPad. They hope it
accelerates her word recognition. Morgan is entranced watching "Farmer in
the Dell" and using her hands to eat orange slices and Cheerios. She needs
a mirror in front of her to provide her a target for her mouth. She listens to
books, another way to try absorbing information.
Morgan can now count to 20 and say three sentences in a row.
Kelly and Kevin have tried to give Morgan a normal life in an abnormal
situation, but they worry about the future -- what she won't have and won't be
able to experience.
But Morgan has changed some of that outlook too.
"Focus on how she is so loving and has so much pure
joy. A lot of parents of special needs [kids] say you can learn so much from
these kids, and you really can," Kelly said. "She is, every morning,
just so happy, and 'Mama!' Hugs and kisses to strangers. She has none of those
behaviors you learn as an adult where you're not kind to people or you don't
want to talk to someone.
"She is just open arms, will give you a hug and is so
loving, and it's like, 'Wow, this is really what life is about.'"
https://www.espn.com/nfl/story/_/id/30371811/detroit-lions-vp-tries-save-daughter-rare-disease
Courtesy of a colleague
See: https://childnervoussystem.blogspot.com/2018/02/beta-propeller-protein-associated.html
