Damaris Bailey and her husband Michael pose with their daughters Valentina , 8, Rose, 3, and Lulu, 6, who was born with a rare genetic disorder called 8P, at their home in Rolling Hills Estates on Thursday, March 7, 2019. There are only about 65 known cases of the disorder in the world, characterized by severe developmental delays and low muscle tone. (Photo by Axel Koester, Contributing Photographer)

The first sign of trouble was her newborn's faint cry.

"In my mind, I'm thinking that's not a big deal," said Damaris Bailey of Rolling Hills Estates, recalling the moments after her daughter Lulu was born. "Maybe she's not a crier, you know?"

The nurse checked Lulu's vitals and noticed her blood sugar was low. When they took her to the nursery, Lulu started having what looked like seizures. The doctors suspected meningitis, but the test results were clean. Then, they started to notice slight physical abnormalities — her chin was a little small; her nipples were further apart than normal; her muscles were underdeveloped.

After two days of tests, the doctors didn't have any answers. Bailey was nervous, but the pregnancy had been normal. The delivery had been fine. It was her second child and she couldn't think of anything that felt different this time around, but something, somehow had gone awry.

The doctors ran an ultrasound on Lulu's head and discovered she was missing her corpus callosum — the part of the brain that connects the left and the right hemispheres — but they still didn't know what caused it.

"I didn't even know what to think," Bailey said. She called her brother-in-law, a doctor, and he suggested she may be developmentally delayed, but thought everything could eventually be normal. The brain can form new connections, he said.

Then, after five days in the newborn intensive care unit, doctors started to run genetic tests on Lulu and they discovered an abnormality.

A typical person has 46 chromosomes in each cell, divided into 23 pairs. But Lulu had additional copies of her eighth chromosome. This appeared to be the cause of her symptoms, but they couldn't tell Bailey what it meant for her daughter's future.

They didn't know at the time that Lulu would spend the first two months of her life in the NICU with a feeding tube because her underdeveloped muscles prevented her from making a suction on a bottle. They didn't tell her that six years later, Lulu would have the cognitive abilities and motor skills of a 10-month-old child, struggling to walk, talk, and even feed herself.

It's a genetic disorder that's so rare it doesn't have a layman's name yet. It's referred to as 8P Inverted Duplication Deletion Syndrome, or simply 8P.

Sometimes the chromosome has extra copies (hence, duplication), as in Lulu's case. Other times, it has too few copies (hence, deletion). In some instances, it does both simultaneously — duplicating the chromosome, but deleting pieces as it goes.

About 80 cases of the disorder are known worldwide, which researchers say is likely to be underdiagnosed, given the genetic testing required for diagnosis.

Bailey searched online and found an extraordinary range of possible symptoms — from minor cognitive delays, to potential heart conditions, to floppy skeletal muscles, to anomalies in brain structure, and seizures — but no guarantees of any of these, and no actual answers. The oldest person with the disorder at the time was barely 25 years old. There was no long-term timeline available. Everywhere she looked was another question mark.

"The doctor himself didn't know much. He suggested a geneticist at Kaiser, but she didn't know much either," Bailey said. "There was nothing we could turn to. It just sucks. You don't know anything."

Building community

But now, six years later, the tide is starting to turn.

In June, Bailey and Lulu are headed to New York for a first-of-its-kind gathering for 8P families organized by Bina Shah — an investment banker, turned founder of Project 8P.

After her own daughter was diagnosed with the disorder, Shah quit her job and set out to create the first community of 8P families. She expected 20 families when she organized the event; now she has more than 50 headed to New York City from across the country, as well as some from Asia, South America, and across Europe.

In the near-term, families will get a critical resource — a community full of hard-won knowledge that's available when therapists and doctors fall short. But, in the long-term, Shah is eyeing something bigger.

"I didn't just want to build a community," she said. "I wanted to build a community with the goals of helping them in the long-term. I want to help researchers find solutions."

She argued that this effort has to be lead by the families and their communities, "because we know the patients the best," Shah said. "We're sitting on a gold mine of data."

For that, she turned to Dr. Wendy Chung, a geneticist at Columbia University who specializes in rare diseases.

Today, medication-based treatments for 8P focus on the individual symptoms, often using medications that were designed for things like attention-deficit-hyperactivity-disorder and epilepsy. But these regimens don't affect the root cause of the problem — a genetic anomaly that would ultimately need correction.

According to the National Institutes of Health, the eighth chromosome represents nearly five percent of the total DNA in a person's cells. It likely contains 700 genes. For a first step, Chung will need to narrow down which genes are affected by the disorder.

That's where the families come in and, even though only 80 cases of the disorder have been confirmed worldwide, Shah has more than 150 families signed up to participate in the study.

Based on the wide discrepancy of symptoms, this could be an arduous path for Chung, but once she's finished, then they can start looking at genetic replacement therapies — physically adding new genes into a person's genetic code.

Chung said that the technology already exists, but as far as she knew, no one was using it on humans yet.

She would have to conduct animal trials to ensure that the therapies are safe for humans, then the first human trials could begin. But all of this is still hypothetical right now.

Chung said that they haven't had any breakthroughs yet — if there were any breakthroughs, she said, it was Shah bringing the community together — but she's optimistic about progress.

"I want to drive treatment options, otherwise I'm not doing this," Shah said. "We have to improve their lives in this lifetime."

More than ever before, that reality seems like it's within arm's reach.

When Shah approached Chung and other researchers, she said, "Don't worry about the funding, but what can you do and is this possible? A lot of the answers lately have been yes. Three years ago," when Shah first started the foundation, "they were scratching their heads."

It's a glimpse of a future that neither Shah nor Bailey saw when their daughters were born. Now, it's offering hope.

"I don't know why we have to settle for anything less than greatness," Shah said. "We're talking about lives for human beings."

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