Rare Disease Day: Mother Seeks Answers for Rare Thyroid Condition

“Patience is bitter, but its fruit is sweet.” – Jean-Jacques Rousseau

No truer are Rousseau’s words than for Krystal Shermer and her family, particularly when it comes to finding clear answers for their health issues. While mom Krystal was first diagnosed with a thyroid condition when she was 13 years old, her thyroid stimulating hormone (TSH) and thyroid hormone (thyroxine) levels never seemed to match those typical of individuals with either hypothyroidism (low thyroid levels) or hyperthyroidism (overactive thyroid).

Nearly two decades later, Krystal was officially diagnosed with hyperthyroidism and began taking medication to address her symptoms. Then, in the span of a few months, three of her children, Korbyn, Kaydon, and Kyanna (who share the last name Goodman) were diagnosed with thyroid dysfunction. She said it was like déjà vu to find out the children had thyroid issues similar to her own.

All three children had atypical patterns of thyroid hormone levels that made managing their disease more complicated. That was when the children’s endocrinologist suggested the family undergo genetic testing to find out if they had a form of genetic thyroid hormone resistance.

Testing for a Rare Genetic Disorder

Stephanie Baskin, M.D., Clinical Geneticist at CHRISTUS Children’s, met the Shermer/Goodman family in the summer of 2022. “After researching thyroid hormone resistance, I suspected the affected family members had a mutation in a gene called THRB, a gene that provides instructions for building part of the thyroid hormone receptor,” said Dr. Baskin.

“The thyroid hormone receptor allows our bodies to respond appropriately to the thyroid hormone our body produces and, thus, properly regulate metabolism, weight, energy levels, internal temperature, as well as skin, hair, and nail growth.”

When a person has a mutation that disrupts the THRB gene, he or she makes thyroid hormone receptors that cannot respond to thyroid hormone properly. Essentially, they are resistant to the thyroid hormone, and their bodies work harder to make extra thyroid hormone to overcome the ineffective receptors.

“Interestingly, THRB-related thyroid hormone resistance is so rare that the two most common genetic testing companies do not offer testing of the THRB gene,” commented Dr. Baskin.

But Dr. Baskin found a lab to run the genetic testing for Krystal and her three children. The results showed that all four have THRB-related thyroid hormone resistance.

Treating Symptoms, Not Hormone Levels

“While there are no specific treatments to fix the ineffective receptor, but because this specific diagnosis is now known, their endocrinologist is able to base each of their treatments on their symptoms and not their hormone levels as is typical for most patients with thyroid dysfunction,” Dr. Baskin said.

In addition, Krystal is now reaching out to her other family members who may be affected with the same genetic condition and not know it.

Keeping Pace with Advancements in Genetics

Solving the diagnostic odyssey for families like the Shermer/Goodmans is a major goal of the CHRISTUS Children's Genetics Clinic. Individuals of all ages come to this clinic because of medical issues in their children or themselves, hoping to find answers for why such issues are present. Fortunately, with advancements in medical knowledge and genetic testing, doctors are often able to find answers for families.

“This discovery has changed generations of my family. It has changed our lives in tremendous ways, from the way we access health care to making decisions about our futures. Knowing this information will affect my grandchildren and even my great-grandchildren,” Krystal said.

Once equipped with a diagnosis, families are able to seek the most appropriate care for themselves or their loved ones. In some cases, treatment to improve their symptoms or prevent further problems from occurring is available. Gene therapy is slowly arriving on the scene, giving the potential to cure some genetic conditions, even though it is only currently available for a small number of genetic conditions. As knowledge of genetic conditions grows along with our ability to diagnose and treat these conditions, geneticists will only continue to grow in our integral role in bettering the health and lives of those like Krystal and her children.

For more information about the Genetics Clinic at CHRISTUS Children’s, visit our website.