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

“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.”

sfc-1Searching 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, after Tate’s Marine Corps service ended. 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.

Kash’s geneticist in California ordered a gene panel to test for variants in genes that might be linked to his cataracts. Those results revealed a variant of uncertain significance in the MAF gene, a gene linked to the eyes’ lens development. A variant of uncertain significance is a variant in someone’s DNA sequence that has been identified but has an unknown effect on their health. Kash’s team in California did not have enough evidence to consider this a diagnosis, and it would still fall short of explaining his larger head size.

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.

sfc-2When 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 gene 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. 

Carrier Testing for Parents 

As Jada worked with the Kennamers, Hannah shared that the couple was expecting their second child. While Kash’s diagnoses were likely not inherited from either parent, Jada informed the Kennamers that couples who are planning a future pregnancy can consider paired carrier screening.

Paired carrier screening is a way to test parents, ideally before a pregnancy, to determine their reproductive risk for having a child with certain genetic disorders inherited from their parents. The Kennamers eagerly pursued carrier screening and were relieved to learn that they were not identified as carriers of the conditions they were screened for.

The Hero Fund

The cost of genomic medicine, whether it’s carrier testing or whole genome sequencing, can be a barrier to testing and a serious financial burden for those who need it, adding to the anxiety and stress of struggling with an undiagnosed genetic disorder.

The Smith Family Clinic is determined to make genomic medicine accessible to all who need it. Sustained by philanthropic gifts, the Hero Fund gives hope to those who need genomic medicine but cannot afford it by providing funds to cover testing and clinical care.

Most  of the Kennamers’ services at SFC were covered by the Hero Fund, including several of the family’s visits to the clinic and Kash’s whole genome sequencing. “We were honored to receive the Hero Fund,” said Hannah. “It made it easier for us to decide whether or not to do these tests, and it gave us access to incredibly valuable information for our family.”

Planning for the future

sfc-3Shortly after the family moved to Alabama, Kash had cataract surgery at UAB at just five months old. The procedure was successful, though Kash will need surgery again when he is a few years older to have a lens replacement in both eyes. Until then, Kash has to wear daily contacts.

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.

On top of seeking the best medical care and therapy possible, Hannah and Tate have also been working with the PTEN Hamartoma Tumor Syndrome Foundation, a non-profit organization on HudsonAlpha’s campus. The foundation was founded by Kristin Anthony, a woman who has PTEN hamartoma tumor syndrome and whose children do too. She created the foundation as a way of finding more effective treatments and therapies for PTEN syndromes and supporting PTEN patients. Hannah has been in touch with Kristin to take advantage of the foundation’s patient resources, as well as to bond over their shared experiences.

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. “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 and this pregnancy.”