When Allyson Lejzorowicz had her first daughter, Grace, in 2010, the Walled Lake mother knew she had to catapult her into life feeling confident and independent.

Both have neurofibromatosis, or NF, a rare genetic condition that can cause tumors to grow on or under the skin across the body.

“As a kid I never had confidence. As an adult I do, but when she (Grace) was born, I thought, ‘Gosh, I have to do something,’” Allyson said.

Allyson, 44, was diagnosed with NF when she was 6 months old based on the presence of Cafe´-au-lait spots or pigmented birthmarks. The rare genetic condition occurred as a result of a spontaneous genetic mutation, she said.

Complications from the same condition claimed the life last year of Nick Gilbert, the 26-year-old son of billionaire Detroit investor Dan Gilbert and his wife, Jennifer. But now, a new research facility in Detroit named in Nick’s honor is going to be built to pave the way for research about the rare condition — and possibly a cure.

The couple announced the Nick Gilbert Neurofibromatosis Research Institute last year, the first brick-and-mortar facility of its kind in the United States. The institute will occupy an entire floor of the planned $335 million Henry Ford Health and Michigan State University Health Sciences Research Center in Detroit’s New Center community, which is part of a larger $3 billion hospital project being built by Henry Ford Health.

On Friday, May 17, World NF Awareness Day, the Gilbert Family Foundation announced 18 NF research grants totaling $21 million. The spending is intended to help develop more advanced preclinical research models for NF to be used eventually at the Nick Gilbert Research Institute when it is scheduled to open in 2027.

Currently, only one drug has been approved by the Food and Drug Administration to treat NF, and the Gilbert Family Foundation was founded with the mission of finding a cure.

“NF1 affects about one in 2,500 births, meaning millions of people worldwide experience debilitating symptoms including blindness, deafness, tumors and more,” Jennifer Gilbert, co-founder of Gilbert Family Foundation, said in a news release. “Those who face NF inspire us every day to identify more innovative approaches to this challenging disease. These investments will accelerate the discovery of treatments that address both the symptoms and underlying cause of neurofibromatosis.”

Financing to battle rare diseases is less than funding for more common ones, largely due to economics, said Kalyan Vinnakota, director of curing NF at the Gilbert Family Foundation. The expected cost to develop a new drug ranges from less than $1 billion to more than $2 billion, according to a Congressional Budget Office analysis, and the amount of money drug companies devote to research and development is partially based on the revenue they expect to earn from the drug.

“That is why philanthropic funding, like that of Gilbert Family Foundation, is so important in this field,” Vinnakota said. “The biochemical pathways affected in NF1 are relevant to other related rare diseases and cancers. The potential for breakthroughs in NF1 research and drug discovery to help other related disorders is high.”

Living with NF

Skin lesions, and how they look, are often the biggest issue people with NF have to deal with, said Dr. Tobias Walbert, co-director of the Hermelin Brain Tumor Center at Henry Ford Health. And fighting the stigma associated with NF is a big part of fighting the condition in general.

For Allyson Lejzorowicz, the tumors began to grow in elementary school, starting with some on her neck, collarbone and arm. She said parents didn’t allow their kids to play with her for fear she was contagious, and people would say she had chickenpox or the Elephant Man’s disease.

“You know things that kids do to be mean because they want to be better than everyone else,” Lejzorowicz said. “When you’re (an) elementary-aged student, you don’t know how to turn that off in your mind and you feel terrible and, so, growing up was really hard.”

The tumors grew through hormonal times such as puberty and pregnancy, Lejzorowicz said. As she’s aged and had two daughters, more tumors have grown, but this wasn’t a factor in Lejzorowicz’s decision to have children.

“It was more important to me to be able to raise a child,” Lejzorowicz said. “I know there’s a lot of controversy on whether we should pass on something knowing that it could cause health problems in the future, but we didn’t see anything bad happening.

“We saw her living a life like me,” she said, referring to Grace.

Since the condition is hereditary, there’s a 50% chance of passing it on to a child. Lejzorowicz said she and her husband consulted with a physician about genetic testing while she was pregnant, but decided against it since testing wouldn’t prevent any other inherited condition such as Down syndrome or Tay-Sachs disease.

“We decided, my husband and I, that it wasn’t worth it. We were just going to take the chance and we knew that my life with NF hasn’t been so horrible,” Lejzorowicz said. “We knew that we could get our daughter through it … if she had it.”

Grace, now 14, will start high school next year and NF hasn’t held her back, Lejzorowicz said. She enjoys playing “Fortnite,” along with her younger sister Hannah, 11, and dancing competitively, performing everything from tap to hip-hop.

“She shines on stage like she has the biggest most wonderful smile on stage,” Lejzorowicz said.

The biggest misconception that Lejzorowicz has encountered is that her condition is contagious or that she has cancer or some kind of skin rash, and sometimes people are scared to go near her.

“My face was almost entirely clear when I was younger and, so now it’s just dealing with the visible effects and people’s reactions,” Lejzorowicz said. “We don’t necessarily get as many playdates as other people do because, you know, people don’t understand it.”

Types and treatment

Lejzorowicz and her daughter have NF type 1, the most common one. It is characterized by cafe´-au-lait spots, skin fibromas, or benign tumors, and tumors on peripheral nerves and the brain, said Henry Ford’s Walbert. It’s caused by a mutation of the NF1 gene on chromosome 17.

Most people inherit the condition but some, like Lejzorowicz, have spontaneous mutations. NF1 is also associated with learning issues, attention deficits and dyslexia, Walbert said.

“Plexiform fibromas — they can cause disfigurement and they can cause pain,” Walbert said. “The skin lesions … if you ask patients, that’s probably their No. 1 issue.”

In some cases, plexiform fibromas, or irregular tumors around a peripheral nerve sheath, can become cancerous and be challenging to treat, he said.

“There’s not just one doctor who can fix this,” Walbert said. “We have assembled a … nationwide leading team of specialized neurosurgeons that can address the brain tumors and the peripheral nerve tumors, and dermatologists, plastic surgeons, genetics, radiation oncology if needed and medical oncology.”

Lejzorowicz said she’s been fortunate to mainly have visible problems, referring to the tumors that grow on her body. The only pain issue she’s had is in her pointer finger.

NF2-related schwannomatosis, formerly called NF type 2, is less common than type 1 and can cause vestibular schwannomas, or the growing of benign nerve tumors in the ears. This often leads to partial or total hearing loss, Walbert said. Patients may also grow other benign brain and spinal tumors like meningiomas, he said.

Schwannomatosis is the rarest form of NF and is an umbrella term for several genetic conditions, including NF2-related schwannomatosis, that cause the growth of benign tumors on nerves. The tumors can grow on peripheral nerves or the brain and spine and can cause hearing loss, pain and eye issues. All forms of schwannomatosis are caused by gene mutations on chromosome 22.

Some aggressive, malignant brain tumors are more common in patients with NF and can be fatal, Walbert explained.

The only treatment for NF was approved by the Food and Drug Administration in 2020 and works by blocking a key enzyme to stop tumor cells from growing. It is approved for pediatric use in patients 2 years old and up.

“This therapy can shrink these tumors by more than 50% and reduce patient’s pain,” Walbert said. “It’s like a small molecular drug that interferes (with) the pathway that makes the tumor grow.”

Henry Ford just completed a clinical trial using the treatment in adults as well as children and saw promising results, he said. Surgery, chemotherapy and radiation are also options for treatment.

“We anticipate that a different drug in that class will be approved for adult patients as well this summer,” Walbert said.

The NF1 models used to test the drug were created less than 20 years ago, said Vinnakota with the Gilbert Family Foundation.

“This shows how important it is to invest in cutting-edge disease models,” Vinnakota said. “We must learn more about the mechanisms by which NF1 affects various organ systems to discover and develop treatments for NF1 manifestations that currently do not have treatments.”

For Lejzorowicz, treatment mostly involves seeing many specialists, including an ophthalmologist, neurologist and endocrinologist routinely to make sure cancerous tumors aren’t affecting any major organ systems.

Sometimes NF tumors can be removed if they’re causing health problems or discomfort. Lejzorowicz said she’s had about seven tumors removed, including several before she started middle school.

“It really helped me mentally, I mean significantly, because I had more confidence as a result of not having kids look at that and tease me all the time,” Lejzorowicz said. “Having any confidence or any strength is really hard when you have to go out every day and deal with people staring at you.”

Accelerating a cure

The Gilbert Family Foundation’s research initiative, announced Friday, focuses on creating advanced NF research models to better understand the disease and rapidly test new treatments.

NF research for the past 35 years has accomplished a lot, from identifying the molecular origins of the condition and some of the biochemical pathways that go awry, causing tumor growth, Vinnakota said. The Gilbert foundation helped identify potential drug candidates and develop animal models to test them.

“While animal models of NF1-associated tumors are important for discovering and testing new treatments, they may not capture disease-related mechanisms specific to humans,” Vinnakota said.

The use of organoids — simplified, miniaturized versions of an organ produced in vitro from human stem cells for research — “could bridge this gap between animal models and human patients,” he said.

The foundation’s $21 million investment will be spread out between 18 grant recipients at leading universities and medical research institutions across the U.S. and Europe. They were selected following a request for proposals in early 2023. The projects emphasize developing in vitro, three-dimensional tissue and organ models, according to the foundation.

The organoid-based research models of NF1 could offer insights on what triggers the disease “on a more personalized basis by examining the specific tissue from a specific clinical manifestation of NF1,” Vinnakota said. They are easier to control of drug screening, he added.

Organoids can be derived from NF1 tumors and healthy tissues, Vinnakota said.

“So potential drug candidates can be evaluated for their impact on the tumor without impacting the healthy tissue, reducing the chances of harmful side effects,” he said.

The new initiative will also fund research on in vivo models, or those inside living organisms, focused on brain tumors, peripheral tumors and behavioral signs of NF1.

“I’m grateful to the Gilbert Family Foundation for their crucial grant supporting our research in understanding neurofibromatosis,” Ju¨rgen Knoblich, a researcher at the Austrian Academy of Sciences, said in the news release. “With this funding, we aim to develop an advanced brain organoid model, a stepping stone for discovering anti-tumor drugs and advancing neurofibromatosis treatments.”

While the Nick Gilbert Research Institute will focus on basic science research, Henry Ford’s NF clinic participates in research like clinical trials. Henry Ford has built one of the largest brain tumor and nerve tissue banks, which can be used to help create models for the condition. Walbert said he’s never seen an investment like the Nick Gilbert Institute for NF Research before and argued it has the potential to change how NF patients are treated around the world.

“Our goal is to bring the world-class research that is done at the Nick Gilbert Institute to help translate that directly to patient care,” said Walbert, adding that the work of Henry Ford and the Nick Gilbert Institute could “make world-changing progress here in Detroit.”

Lejzorowicz said she was in tears when she first heard about the Nick Gilbert Neurofibromatosis Research Institute in her hometown.

“I think there’s definitely hope,” she said, “especially since there’s research teams all over the country that are working really hard to do that — to stop tumor growth.”