Navajo-Hopi Observer<\/p>\n
Two Navajo mothers shared their children\u2019s experience battling rare genetic diseases during the \u201cVoices of the Din\u00e9: Bridging Science, Culture, and Community in Genetic Research Summit,\u201d which took place at Northern Arizona University May 29-30.<\/p>\n
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.<\/p>\n
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.<\/p>\n
Grace received genetic testing at Phoenix Children\u2019s Hospital. Tsingine and her husband were devastated to find out that there is no cure for NNH, and the outcome is eventual liver failure.<\/p>\n
\u201cWhen we did find out her diagnosis, her dad and I decided that we weren\u2019t 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\u2019t live to be a year old,\u201d Tsingine said.<\/p>\n
Tsingine shared that her husband said from then on, that love would be their medicine and healing.<\/p>\n
\u201cEven though we knew the outcome, that there was no cure, we made the most of every single second with our daughter,\u201d Tsingine said.<\/p>\n
Tsingine, who is a middle school counselor, said she didn\u2019t want anger to reverberate through the household. Instead, the family did things they knew Grace loved \u2013 went hiking, kayaking and camping. Tsingine even completed the New York City Marathon while carrying Gracie.<\/p>\n
Tsingine worked intimately with Grace\u2019s medical team, who she raved about.<\/p>\n
\u201cWe became medical experts ourselves as parents. When we left the hospital, we became doctors \u2013 we became familiar with her medicine, we became familiar with her routine,\u201d she said.<\/p>\n
Grace beat the odds and lived to be 4-years-old instead of 1.<\/p>\n
\u201cYes, (NNH) was starting to play a lot on her physical well-being, but she was still able to do so much,\u201d Tsingine said. \u201cAs I reflect on my healing journey, grief is my friend.\u201d<\/p>\n
As part of Tsingine\u2019s 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.<\/p>\n
Anna Joe and family blindness<\/strong><\/p>\n 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.<\/p>\n In her immediate family, she shared that there is a history or diagnosis of cancer, heart disease, oxygen disability, Parskinson\u2019s disease and alcoholism \u2013 many of which are genetic disorders.<\/p>\n Two out of four of Joe\u2019s children had problems with their eyesight.<\/p>\n \u201cDuring the early years of my daughter and son\u2019s 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,\u201d she said.<\/p>\n Joe brought the children to the ophthalmologist, and was told they had an eye disease called Retinitis pigmentosa (RP).<\/p>\n \u201cWhen the doctor explained what was happening, I was very confused by the information, especially hearing words like \u2018mutation,\u2019 \u2018recessive genes,\u2019 \u2018generational eye disease\u2019 and so on,\u201d Joe said.<\/p>\n What hurt the most, she said, was finding out there was no cure and her children would eventually lose their vision completely.<\/p>\n \u201cFrom that point on, my only question was, \u2018why me, why them?\u2019\u2019 Joe said. \u201cBut eventually I told myself to stop asking why, and began asking myself how and where do I begin.\u201d<\/p>\n Joe\u2019s mother was very traditional, and her belief was that Joe did something wrong when she was pregnant.<\/p>\n \u201cShe was adamant that it was my fault for doing some sort of (Navajo) taboo\u2026 And that hurt,\u201d Joe said.<\/p>\n When Joe relayed what the doctors had told her to her mother, her mother wouldn\u2019t 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.<\/p>\n Eventually, bullying at school and other problems led Joe to relocate the children to the School of Deaf and Blind in Tucson.<\/p>\n \u201cThey were able to gain independence and the ability to understand the direction they were going to go,\u201d Joe said.<\/p>\n The children successfully completed high school and graduated with honors, gained employment and went on to have relationships and children of their own.<\/p>\n 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.<\/p>\n 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 Din\u00e9 people.<\/p>\n 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.<\/p>\n 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.<\/p>\n Dr. Jennifer Puck, Professor of Pediatrics at University of California San Francisco, also spoke in depth about advances in diagnosis and treatment for SCID.<\/p>\n Puck was able to help get SCID testing markers done for newborns on the Navajo Nation. It has now become universal across the nation.<\/p>\n 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.<\/p>\n This was the first year of the \u201cVoices of the Din\u00e9\u201d summit, which is focused on increasing understanding and awareness around genetics and genomics, related research, and future possibilities for Din\u00e9 and Indigenous peoples nation-wide.<\/p>\n The summit\u2019s Din\u00e9 organizers included Katrina Claw of the University of Colorado Anschutz, Nanibaa\u2019 Garrison of the University of California Los Angeles, Jani Ingram and Tia Gramzinski of Northern Arizona University and Gilbert John of Colorado State University.<\/p>\n 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<\/a> for more information.<\/p>\n","protected":false},"excerpt":{"rendered":"Navajo-Hopi Observer Two Navajo mothers shared their children\u2019s experience battling rare genetic diseases during the \u201cVoices of the…\n","protected":false},"author":2,"featured_media":229759,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3846],"tags":[267,3462,12,70,16,15],"class_list":{"0":"post-229758","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-genetics","9":"tag-local","10":"tag-news","11":"tag-science","12":"tag-uk","13":"tag-united-kingdom"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@uk\/114778952738016982","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/229758","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/comments?post=229758"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/229758\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/229759"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=229758"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=229758"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=229758"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}