Houston family launches foundation for rare toddler disease

At that time, Austin was 5 months old. He was born on August 27, 2019, with two collapsed lungs and remained in the neonatal intensive care unit for the first 10 days of his life.

“No one could tell us why, and no one necessarily cared,” Lowe recalls. “Looking back, however, it all comes together and makes sense.”

There were several other minor issues. Austin didn’t drink more than 2 ounces of milk at a time. He barely gained any weight. He did not lift his head during the time spent on his stomach.

Yet each concern seemed to be just one phase. Nothing raised a red flag. In many other ways, Austin seemed like a typical baby.

Lowe and her husband, Mark Corman, took him to a gastroenterologist, who suggested a special formula in case a food allergy was causing it.

In January, however, the doctor recommended that Austin go to Texas Children’s Hospital, where his nutrition could be monitored and evaluated by specialists.

At the hospital, Austin was placed on a nasogastric tube and visited by a number of doctors. All diagnostic tests came back to normal.

Austin tested for a slightly elevated level of creatine kinase, an enzyme that appears with damaged muscles, often with muscular dystrophy. Yet the amount was not high enough to be alarming.

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Next, doctors performed an exome sequencing genetic test, finding that Austin had congenital muscular dystrophy linked to LMNA, or L-CMD.

Lowe was in shock.

“They told us there was no cure and no cure,” she recalls. “We were inundated with information. It was unreal. “

Rare diagnosis

L-CMD is extremely rare, with less than one case per million people, according to Austin pediatric neurologist Dr. Tim Lotze of Texas Children’s.

The disorder results from mutations in the LMNA gene, which codes for laminic proteins A and C, both essential for muscle development.

“In L-CMD, there’s a serious problem in the gene, and these proteins just don’t grow, so the muscles never grow fully,” Lotze said.

L-CMD affects the skeletal muscles and the heart, as well as the muscles of the gastrointestinal tract. It can affect movement and even the ability to breathe.

“Neuromuscular disorders are among the most diverse and complex in the field of neurology,” Lotze said. “Many remain undiagnosed due to the limitations of current diagnoses to include genetics.”

Finding the root cause is often even more complicated in an infant, who cannot communicate specific symptoms, he added.

“There are a lot of families, including Austin’s, going through a diagnostic odyssey, a big part of which is waiting for test results,” Lotze said.

Being able to cast a wide net with genetic testing of all exome sequencing is beneficial, especially in cases like Austin’s.

“Without this test, we might not have discovered this diagnosis – because it was not an initial consideration given its rarity,” Lotze said.

Even after diagnosis, however, rare diseases such as L-CMD leave doctors and parents with some uncertainty.

“So much is unknown about natural history and what to expect,” Lotze added.

Austin will need the care of several specialists to maintain his breathing, heart function, nutrition and neurodevelopment.

“With continued care he may show some improvement but will remain very weak throughout his life,” Lotze said.

After Austin’s diagnosis, Lowe and Corman met with cardiologists and pulmonologists. Lowe filled out two notebooks with information about their dates.

“At one point I asked something like, ‘Are these kids growing up and getting married and having kids? And they were like, ‘No. Not really, ”Lowe recalls.

Instead, she said, children tend to peak in their muscle development and then start to decline. Statistically, life expectancy is less than 18 years.

Austin was released from the hospital on Valentine’s Day 2020.

“A month later, we were locked out,” Lowe said.

A way forward

Lowe and Corman balanced isolation at home with developing a skincare routine for Austin.

“My husband and I took turns spending the night,” Lowe recalls. “It was quite exhausting.”

With their eldest son Ean, 3 years old, there were certain stages in his growth and development. With Austin, the couple didn’t know what to expect.

Although he is progressing cognitively, he cannot sit or crawl. He doesn’t have the upper body strength to lift himself up.

Each day, Lowe and Corman work Austin’s arms, legs, hands, and feet to maintain his range of motion, as contractures – a tightening of muscles – can develop, along with scoliosis.

Their days are filled with administering therapy and tube feeding, often followed by Austin’s vomiting.

The couple decided to put a gastro tube in Austin’s stomach since they can’t eat through their mouths. Twice a day, they use a cough assist device, a machine that forces air into Austin’s lungs, then sucks it in to remove the secretions.

In no time, the couple’s time was also consumed with a quest to find out more.

This led them to connect with I AM ALS, an organization created by Brian Wallach and his wife, Sandra Abrevaya. This patient-led community provides support and resources to people with the neurodegenerative disease known as Lou Gehrig’s disease.

The group’s approach to advocacy, in which patients and their families lead the effort, struck a chord with Lowe and Corman, who continue to meet parents of children with rare diseases. One connection leads to another and another.

“It gave us direction,” Lowe said. “Other parents were on the way in front of us. It gave us hope. “

It was even more encouraging when the couple learned of the existence of researchers working on rare diseases.

Since Austin’s diagnosis, Corman has read nearly 1,000 scientific papers on the LMNA gene, cell physiology, and metabolic pathways. He and Lowe spoke to scientists and doctors, biotech companies and university labs.

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Corman founded the Fundación Andrés Marcio, a foundation in Spain for a child with the same mutation as Austin.

“There’s a lot of research going on,” Corman said. “They are trying to understand as much as possible about the disease to find a long term solution.”

Still, he and Lowe wanted to pave the way for more research, especially on specific gene therapies that appeared viable.

Corman discovered researcher Dr Ignacio Pérez de Castro at Instituto de Salud Carlos III in Madrid and Dr Miguel Sena-Esteves at UMass Faculty of Medicine.

The two were ready to collaborate with Lowe and Corman. But the couple needed to raise funds to promote the work. They created the L-CMD Research Foundation to advance research into a treatment and ultimately a cure.

“We decided this would be our best plan of attack,” Lowe said.

The foundation was incorporated in August and received its 501 (c) (3) status in March.

“There is obviously no guarantee,” Lowe said. “You can create something that doesn’t work, or you can create something that works and then your kid is too old to get it. But that doesn’t mean you shouldn’t try.

Start a foundation

Lowe realized that with the pandemic – and struggling to understand Austin’s diagnosis – she hadn’t reached out to her friends or family to update them.

She sat down to write a group email and began by explaining, “I never take it for granted that my 17 month old son Austin is awake in the morning. In fact, I’m still a little surprised.

Lowe added that “we cannot wait for science to come to us; we must go in search of innovative and promising scientific technologies.

Then, she announced the launch of the L-CMD Research Foundation. The first campaign is called “2 Before 2” and the goal is to raise $ 2 million before Austin is 2 on August 27th.

“We know the sooner these children are treated, the better the results,” Lowe wrote in his email.

The campaign began on February 14, the first anniversary of Austin’s return from hospital after being diagnosed.

The couple have already raised $ 500,000.

Lowe explained that so far the focus has been on asking friends and family to share the story with everyone they know. The couple created a website lcmdresearch.org and a GoFundMe page, gofundme.com/f/2-before-2.

They are working on new fundraisers including a golf tournament, silent auction and virtual practice classes called “Sweat Saturdays”.

The money will go towards research, development and testing of gene therapy for all children affected by L-CMD.

“It’s possible that it’s not just the L-CMD kids who benefit if we are successful,” Corman said. “We want to do something that would help Austin – and help as many people as possible. “

He and Lowe are committed to doing whatever they can for their son.

“We will continue until there is nowhere to go,” Lowe said. “We want to give Austin the best possible life. And if we could save his life, extend his life, that would be great.

“There is no guarantee,” she added. “But there is always hope.”

Lindsay Peyton is a Houston-based freelance writer.