Navajo-Hopi Observer

Two Navajo mothers shared their children’s experience battling rare genetic diseases during the “Voices of the Diné: Bridging Science, Culture, and Community in Genetic Research Summit,” which took place at Northern Arizona University May 29-30.

Adaline Lacy Tsingine, of Tuba City, spoke to policymakers, clinicians, students and other attendees about her daughter Grace Skai, who lived to be 4-years-old. Grace was diagnosed with Navajo neurohepatopathy (NNH) when she was 3-months-old.

According to the National Institutes of Health, NNH is an inherited disease primarily affecting Navajo children. It is characterized by severe liver disease and neurological problems, including brain damage. Infants and children with NNH often have difficulty gaining weight and properly developing. The condition is linked to a mutation in the MP17 gene, crucial for mitochondrial DNA maintenance and cellular energy production.

Grace received genetic testing at Phoenix Children’s Hospital. Tsingine and her husband were devastated to find out that there is no cure for NNH, and the outcome is eventual liver failure.

“When we did find out her diagnosis, her dad and I decided that we weren’t going to share that information with our families, with our friends and so forth, because from what we heard through medical research is that most children don’t live to be a year old,” Tsingine said.

Tsingine shared that her husband said from then on, that love would be their medicine and healing.

“Even though we knew the outcome, that there was no cure, we made the most of every single second with our daughter,” Tsingine said.

Tsingine, who is a middle school counselor, said she didn’t want anger to reverberate through the household. Instead, the family did things they knew Grace loved – went hiking, kayaking and camping. Tsingine even completed the New York City Marathon while carrying Gracie.

Tsingine worked intimately with Grace’s medical team, who she raved about.

“We became medical experts ourselves as parents. When we left the hospital, we became doctors – we became familiar with her medicine, we became familiar with her routine,” she said.

Grace beat the odds and lived to be 4-years-old instead of 1.

“Yes, (NNH) was starting to play a lot on her physical well-being, but she was still able to do so much,” Tsingine said. “As I reflect on my healing journey, grief is my friend.”

As part of Tsingine’s healing journey, she wants to help other families who are dealing with NNH, possibly hearing about it for the first time with the diagnosis time like she and her husband did. She knows how important and impactful genetic research is, and was excited to be at the summit to learn more.

Anna Joe and family blindness

Anna Joe, originally from Ganado, is the seventh child of 11 siblings, and has four children of her own, as well as grandchildren and a great-grand child.

In her immediate family, she shared that there is a history or diagnosis of cancer, heart disease, oxygen disability, Parskinson’s disease and alcoholism – many of which are genetic disorders.

Two out of four of Joe’s children had problems with their eyesight.

“During the early years of my daughter and son’s development, I noticed that they were crying more at night, there were frequent hospital visits, they had trouble locating and retrieving objects, and when they started walking they stumbled easily and walked into people or even objects,” she said.

Joe brought the children to the ophthalmologist, and was told they had an eye disease called Retinitis pigmentosa (RP).

“When the doctor explained what was happening, I was very confused by the information, especially hearing words like ‘mutation,’ ‘recessive genes,’ ‘generational eye disease’ and so on,” Joe said.

What hurt the most, she said, was finding out there was no cure and her children would eventually lose their vision completely.

“From that point on, my only question was, ‘why me, why them?’’ Joe said. “But eventually I told myself to stop asking why, and began asking myself how and where do I begin.”

Joe’s mother was very traditional, and her belief was that Joe did something wrong when she was pregnant.

“She was adamant that it was my fault for doing some sort of (Navajo) taboo… And that hurt,” Joe said.

When Joe relayed what the doctors had told her to her mother, her mother wouldn’t hear it and told Joe to use traditional Navajo ceremonies to help them instead. The children did go through some ceremonies, but the RP spread.

Eventually, bullying at school and other problems led Joe to relocate the children to the School of Deaf and Blind in Tucson.

“They were able to gain independence and the ability to understand the direction they were going to go,” Joe said.

The children successfully completed high school and graduated with honors, gained employment and went on to have relationships and children of their own.

Joe said she knows many others on the Navajo Nation dealing with genetic mental and physical conditions and families are often having to balance traditional values with modern science.

Dr. Diana Hu, pediatrician at the Tuba City Regional Health Care Corporation, has been working with Navajo, Hopi and San Juan Southern Paiute Tribes for 20 years. After Tsingine and Joe shared their personal stories, Hu spoke on Genetics and the Diné people.

She said there are some diseases that are only seen in Indigenous populations, and others that are only seen in the Navajo community. Those genetic illnesses that occur more frequently in Navajo are Navajo neurohepatopathy (NNH), Athabascan Brain Stem Dysgenesis, Poikiloderma with Neutropenia. Genetic illnesses in Navajos seen in other populations include Microvillus Inclusion Disease, Oculocutaneous Albinism, Metachromatic Leukodystrophy and Retinitis Pigmentosa.

Severe Combined Immune Deficiency (SCID) is particularly high in Navajos and Apaches compared to the general population. SCID is a group of rare genetic disorders where a child is born with a severely weakened or absent immune system, making them highly susceptible to infections. Without treatment, most infants with SCID do not survive past their first year due to severe and recurrent infections.

Dr. Jennifer Puck, Professor of Pediatrics at University of California San Francisco, also spoke in depth about advances in diagnosis and treatment for SCID.

Puck was able to help get SCID testing markers done for newborns on the Navajo Nation. It has now become universal across the nation.

Hu said the field of genetics and molecular biology is still transforming and she thinks soon they will be able to understand more about what causes NNH in Grace Skai and others through genetic research in Indigenous populations. However, she shared in her presentation there are also controversial risks attached, including labeling of unaffected in individuals, DNA as a property or a commodity, exploitation of Indigenous populations and more.

This was the first year of the “Voices of the Diné” summit, which is focused on increasing understanding and awareness around genetics and genomics, related research, and future possibilities for Diné and Indigenous peoples nation-wide.

The summit’s Diné organizers included Katrina Claw of the University of Colorado Anschutz, Nanibaa’ Garrison of the University of California Los Angeles, Jani Ingram and Tia Gramzinski of Northern Arizona University and Gilbert John of Colorado State University.

Navajo Nation Council Delegate Carl Slater and Navajo Nation Speaker of the House Crystalyne Curley spoke about Navajo Nation policy and genomic research, while Native scholars and students presented presentations and posters on education related to STEM and genetics, ethics, technology and more. Visit voicesofdinesummit.com for more information.