The Smith Family Clinic gives answers to a family struggling with their son’s congenital cataracts

By Lillie Mermoud

When Hannah and Tate Kennamer discovered their newborn son, Kash, had congenital cataracts, they knew the road ahead would be long. After a year of searching for answers, the Kennamers learned that Kash was born with two rare genetic disorders that are behind many of his symptoms.

“Genetic testing has benefited us more than we could ever imagine,” said Hannah. “It took away a lot of anxiety and made the future less uncertain. Now we can take a deep breath and focus on Kash’s care.”

Get to know Kash, this year’s Double Helix Dash Childhood Champion, and learn more about the role the Smith Family Clinic for Genomic Medicine and HudsonAlpha played in Kash’s diagnosis.

Searching for answers from coast to coast

Kash has faced health issues from near birth. During an eye exam at his one-month appointment, Kash’s pediatrician noticed his red reflex was absent, a symptom that points to cataracts. Two months later, white dots formed in each of Kash’s eyes, confirming the existence of cataracts. At just a few months old, Kash urgently needed surgery in both eyes.

In addition to the cataracts, Kash’s pediatrician noticed that he had macrocephaly, or an enlarged head. Though macrocephaly does not always indicate a harmful condition, it can be linked with developmental delays and other growth disorders.

At the time of Kash’s diagnosis, the Kennamers were living in California but were preparing to move to Huntsville, Alabama. Kash’s medical team referred him to the Callahan Eye Hospital at the University of Alabama in Birmingham (UAB) for his cataract surgery and recommended working with a geneticist in California to determine if there were underlying causes for his symptoms.

The geneticist in California ordered a gene panel to test for gene variants that might be linked to his cataracts. Though results revealed a variant of uncertain significance in the MAF gene, a gene linked to the eyes’ lens development, Kash’s team in California did not have enough evidence to consider this a diagnosis.

With more questions than answers, the family was referred to the Smith Family Clinic for Genomic Medicine on the campus of HudsonAlpha Institute for Biotechnology for further tests and genetic counseling.

Double diagnosis

Shortly after moving to Huntsville, the Kennamers visited the Smith Family Clinic for an appointment with Dr. Anna Hurst, a medical geneticist and pediatrician at UAB and Children’s of Alabama who is part of the Smith Family Clinic team, and Jada Pugh, ScM, CGC, the genetic counselor who worked with the family. They recommended whole genome sequencing, a test that helps identify genetic variants by examining the patient’s entire genetic makeup. They also recommended testing samples from Hannah and Tate to clarify any findings.

When Kash’s results returned, Jada was able to return two diagnoses to the family. “The gene panel Kash had previously only included genes known to be linked with congenital cataracts,” said Jada. “Broadening our search through genome sequencing allowed us to assess genes that may be linked to all of his symptoms.”

Samples from Hannah and Tate provided evidence that the MAF variant was not inherited from either of Kash’s parents, reclassifying the finding from uncertain to a definitive diagnosis for his congenital cataracts. Kash was also diagnosed with PTEN hamartoma tumor syndrome, a condition where cells divide uncontrollably and increase the likelihood of developing cancerous tumors. PTEN mutations can also cause developmental disorders, like macrocephaly, as well as intellectual disorders. Together, these two diagnoses helped explain all of Kash’s features.

“The PTEN diagnosis was concerning because of what it means for Kash’s future,” said Hannah. “We’re relieved we were able to learn about it when he was so young. We can start whatever we need to do to take care of him now, and we know to be proactive about cancer screenings.”

The inclusion of both parents in genome sequencing also revealed that both of Kash’s diagnoses are de novo, meaning the variants were present in Kash for the first time in the family and were not inherited from either parent. Based on this information, Jada counseled Hannah and Tate that there is an extremely low risk for future children to have either of these genetic changes. 

Even though Kash’s diagnoses were likely not inherited from either parent, Jada offered Hannah and Tate  paired carrier screening to provide information about their risk for having future children with inherited genetic conditions. . After testing, the Kennamers were relieved to learn that they were not identified as carriers of the conditions they were screened for. Their second son, Lucas, was born without evidence of genetic disease in 2023, and Kash has enjoyed his new role as a big brother. 

Planning for the future

Though Kash’s genetic disorders will be with him for life, his diagnosis allowed Hannah and Tate to make a care plan and give Kash access to cutting-edge medical resources. Hannah is placing Kash in speech therapy because his language development is delayed, a possible symptom of the PTEN diagnosis, and has been working with a team of specialists at St. Jude’s Children’s Research Hospital in Memphis, Tennessee.

As Hannah considers how far her family has come, she recognizes that thanks to genetic testing, they are empowered with a clearer idea of what the future holds and have been able to access life-changing resources.

“We were searching for answers for so long, and now we finally have them,” said Hannah. “We know exactly what Kash’s diagnosis means, and we can figure out where to go from here as a family.”

If you are interested in supporting the Smith Family Clinic’s work to diagnose children like Kash, as well as HudsonAlpha’s research on childhood genetic disorders that makes diagnoses like Kash’s possible, be a part of the HudsonAlpha Foundation’s 2024 Double Helix Dash 5K and 1-mile twilight run! All proceeds benefit the Smith Family Clinic and HudsonAlpha’s childhood genetic disorder research programs.