By Lillie Mermoud

Mya is a high school freshman who is thriving in all aspects of life. A straight-A student involved in several clubs, she enjoys being a member of her school’s basketball team and loves being a part of her local church. From her assertiveness and outgoing personality, you would never guess that Mya has faced incredible challenges from the time she was born in 2008.

After eight years of surgeries, medical exams, and searching for answers, whole genome sequencing revealed Mya has an extremely rare genetic disorder that causes facial and dental abnormalities as well as gastrointestinal issues.

A difficult start

Doctors noticed shortly after Mya’s birth that she had a cleft in her soft palate, a condition they warned would cause difficulties with feeding. However, everything else about Mya seemed healthy, so Lydia, Mya’s mother, took her home expecting only to have to treat the cleft palate. Lydia quickly knew there were more pieces to the puzzle. Mya often screamed as if she was in pain, and Lydia noticed another small physical abnormality.

When Mya was six months old, Lydia took her to the Lancaster Cleft Palate Clinic in Pennsylvania, not far from where the two had been living. At the clinic, Lydia worked with a feeding specialist who treated Mya’s feeding problems.

“As Abby [the feeding specialist] got to know Mya, she also noticed the symptoms I’d been concerned about and believed Mya could have a genetic disorder,” said Lydia. “She referred Mya to a geneticist, who in turn referred her to a pediatric surgeon for immediate help.”

Mya was diagnosed with physical differences that required surgical intervention. Though these procedures saved Mya’s life, they led to complications that required Lydia to stay home so Mya could be cared for and have access to the physical and speech therapy she needed.

“Mya has a strong personality,” said Lydia. “If she did not, I’m not sure how she would have endured everything she’s been through.”

Journey towards a diagnosis

As a new mother, Lydia felt isolated and overwhelmed by not knowing what was happening to her daughter. The genetic tests in Pennsylvania had not yielded any answers, but Lydia did not give up hope. In 2017, they moved back home to North Alabama, where Lydia is from. Now eight years old, Mya was seeing a pediatrician in the region who referred her to the Smith Family Clinic for Genomic Medicine on the campus of HudsonAlpha Institute for Biotechnology. 

“The geneticist we saw in Pennsylvania believed we would one day have an answer for Mya,” Lydia said. “The technology didn’t exist at the time when she first did genetic testing, but I had that as a possibility in my mind when we heard about the Smith Family Clinic.”

At the Smith Family Clinic, Mya received whole genome sequencing, a more comprehensive and in-depth test than the gene panels that had been run in the past. Once the test results were in, Mya received the diagnosis she had waited so long for.

Mya was diagnosed with blepharocheilodontic (BCD) syndrome, a rare disease caused by a variation in the CTNND1 gene. This gene is responsible for creating proteins that make up epithelial cells, which are the cells that line the skin, blood vessels, and body cavities, causing people with BCD syndrome to struggle with a number of seemingly unrelated physical abnormalities.

“The power of whole genome sequencing made Mya’s diagnosis possible,” said Meagan Cochran, MS, CGC, Director of the Smith Family Clinic. “This test allowed us to analyze her whole genome for all genetic variants that might be at play rather than looking at a small subset of genes. She would not have received a diagnosis without whole genome sequencing.”

“When they told us about Mya’s diagnosis, it felt freeing,” said Lydia. “I couldn’t help but wonder how different things could have been if she had received a diagnosis sooner. When your child has an undiagnosed disease, they have to go through so many painful and scary medical tests. If you could rule some of those out by having answers from genetic testing, why wouldn’t you?”

Planning for the future

Today, Mya and Lydia are in the process of working with new doctors at UAB Hospital and Children’s of Alabama to treat her symptoms. “If we didn’t have Mya’s diagnosis, we’d be starting from scratch trying to determine what was wrong rather than identifying solutions to better care for her,” said Lydia. “The Smith Family Clinic gave us the knowledge to educate doctors on what Mya is going through.”

“Mya is on a lifelong journey. Even though her daily life looks a bit different from other kids, we’re doing everything we can so she can go through life as normally as possible,” said Lydia.

Looking ahead to the future, Mya is interested in traveling after her high school graduation and exploring the world around her. She recently attended one of HudsonAlpha’s summer camps, which Lydia said brought her experience with HudsonAlpha and the Smith Family Clinic full circle. “More people should take advantage of the wisdom there is at HudsonAlpha,” said Lydia.

The Hero Fund

At the time Mya received her diagnosis, Lydia was a single mother living on a smaller income. When the team at the Smith Family Clinic informed her she qualified for the Hero Fund, a fund established to help patients who face financial barriers to access the care and genetic testing they need, she was relieved.

“I had hoped the Hero Fund would cover half of our expenses,” said Lydia. “I was floored when I found out we didn’t owe anything.” The Hero Fund covered the cost of Mya’s whole genome sequencing, an expensive test that is not often covered by health insurance, as well as Mya’s genetic counseling sessions.

“The Hero Fund helped us to get an answer that changed everything for us,” said Lydia. “Now we have the knowledge to best look after Mya.”

The Hero Fund supports the work of the Smith Family Clinic as a patient assistance program. The Smith Family Clinic relies on philanthropic donations to build up the Hero Fund and make genetic testing accessible to all who need it.

If you are interested in supporting the Hero Fund, you can make a donation or reach out to Elizabeth Herrin, Senior Director of Advancement, at eherrin@hudsonalpha.org to learn more.