Navigating the system: Help for individuals born with genetic disorders

By DR. SELENA SEABROOKS

The Dallas Examiner

Birth defects affect 3% of all babies born each year in the United States. Genetic disorders affect 1 in 22 people in the U.S, according to the Centers for Disease Control and Prevention. Moreover, 1 in 9 children admitted to the hospital has a genetic disorder. Among infant deaths, 20% to 30% are due to genetic disorders, according to the Texas Department of State Health Services.

Recently, the Texas Department of Health and Human Services’ Office of Disability Prevention for Children hosted Resources for Genetics in Texas and Beyond, a webinar to discuss genetic resources for families, public health professionals, service providers and medical professionals. The webinar aimed to equip attendees with access to genetic care with resources, tools and connections. It was facilitated by ODPC Program Manager Jay Smith and featured guest speakers from Mountain States Regional Genetics Network.

Warning signs for genetics

Lourdes Torres, genetic navigator, discussed genetic warning signs and symptoms reported by families whose child received a genetic diagnosis. She stated that 89% of the reported warning signs were noted before age 4.

Those warning signs include:

• Developmental delay

Symptoms include physical or motor skills, speech, cognitive, adaptive, and social and emotional delays.

• Physical features

Examples are extra fingers or toes, a large or small head size, short or tall height, cleft palate, frequent joint dislocations, and spinal deformities.

• Feeding issues

Symptoms include difficulty swallowing, breastfeeding struggles, poor latching, feeding tube dependence, poor appetite, never feeling full, vomiting and gagging on food.

• Behavior issues

Warning signs include autism spectrum disorder, repetitive movements, ADHD or hyperactivity, and difficulty in school and social settings.

• Failure to thrive

Warning signs include slow growth and weight gain.

• Strength and tone

Low or high muscle tone, weakness, or inability to lift or control the head.

Other warning signs include seizures, immune issues, neurological concerns, fatigue, and hearing and vision concerns.

Torres, whose daughter was born with an ultra-rare genetic condition – HNRNPH2 mutation – has had to perform as a genetic navigator for her daughter.

Genetic navigators are individuals who have navigated the genetics service system for themselves or a loved one in the state where they live.

She now uses her skills as a genetic navigator to help individuals and families in Texas by discussing next steps for those looking for guidance, providing resources when barriers to accessing genetic services are encountered, connecting families with support organizations and meeting with families who want to get involved as an advocate in the genetic system. Torres provided her email, texasgenetic@gmail.com, for those in need of her services.

Resources for genetics

MSRGN is a regional genetics network that includes the state of Texas. The organization ensures that individuals with heritable disorders and their families have access to quality care and appropriate genetic expertise through facilitating a network of genetic clinics, primary care practices, consumer advocates and state health department resources.

Kristi Wees, project manager at MSRGN, discussed educational resources her organization offers providers and families. Resources included:

• Genetic navigators
• Genetic pop-ups
• Time 4 Genetics
• Genetics summit
• Early intervention workshop

Wees answered questions from attendees.

Question: Do you provide services for children older than the target group? My son is 14 but has been struggling since kindergarten and has struggled to find services available.

Wees: We serve all children, so we can help you get resources for your child, even if they’re outside that age range I think Jay put up for his group.

Question: Do you work with undocumented families?

Wees: Our genetic navigators are willing to take questions from any family. We don’t have any process where we are requiring any type of documentation. It’s really just through email connection first, and then we do have the ability to set up conference calls and Zoom calls with interpreters.

Question: Does your organization or program support adults as well? For example, if someone has never been diagnosed with a genetic condition as a child but they might need testing as an adult, is that something you all would be able to help them navigate to find services or testing?

Wees: Because of our funding, it’s through the Maternal and Child Health Bureau, our focus is primarily on pediatric conditions, but we know that the goal here is to have children that grow up thriving and become very well-adjusted adults with their genetic condition. So, we do have a limited number of adult resources within Mountain States.

For additional information, visit https://www.mountainstatesgenetics.org.