By Noelle Schon
When El Paso, Texas resident Leticia “Letty” Gutierrez met her husband David, she knew he was one in a million. The two have been married for 28 years and built a life together with three kids. Letty, a high school English teacher, says she was especially attracted to David for his wit.
But a sudden change in David’s demeanor flipped the family’s life upside down overnight. David became angry, apathetic and forgot significant events in his family’s life. His behavior progressively worsened as time went on, and even after seeking medical help the change went unsolved.
“It was damaging our relationship as well as his relationship with the kids,” Letty recalls. “He had become angry and distant. And when you don't have an answer why he is doing all these things, it creates a lot of problems within the family.”
It wasn’t until a relative of David’s had genetic testing done at Mayo Clinic's campus in Arizona and urged David to receive the same testing, that the family got answers: David had a rare genetic mutation that caused him to develop frontotemporal dementia — a condition that greatly altered his personality and behavior.
An electrical engineer and good father, David worked hard and would always make the best decisions for his family. He was very social and loved entertaining his friends at their home. He enjoyed taking his children golfing, and he was heavily involved in their academics, preparing his children for spelling bees and helping out with homework.
But suddenly, his decision-making declined.
“I began to notice some things were not getting paid,” Letty says. “He cancelled a life policy. He started becoming very vulnerable to advertisements on anything he got in the mail, and he would sign up to every email advertisement he received.”
The change put huge strains on David’s relationship with his children and wife, but the change made sense to David, who attributed his behavior to stress with work and finances. Even after several doctors’ visits, the Gutierrezes’ questions remained unanswered.
It wasn’t until David had a grand mal seizure that landed him in a local hospital that the family received confirmation that his behavioral change was tied to his health. But even then, it posed challenges, with tests from infectious disease specialists and neurologists turning up empty.
“It was very frustrating for us, because not knowing the diagnosis was making it harder to treat the symptoms. We didn’t know what to expect,” says the Gutierrezs' son, David Anthony. “He was getting worse and we weren’t able to treat him because we didn’t know exactly what was happening at the time.”
But the family would soon find a new lead: David’s relative in Phoenix, Ariz. finally found an answer to his own medical odyssey that could hold the key to David’s condition. The relative had been experiencing muscle weakness in his legs and trouble walking without any explanation. That is, until he met Neurologist and Medical Geneticist Radhika Dhamija, M.B.B.S., who discovered he had a rare genetic mutation and suspected it would be present in the rest of the family.
The gene variant Dr. Dhamija found in David’s brother is in the VCP gene, which has three phenotypes that cause different or combinations of certain conditions. This includes:
After receiving a genetic test of his own, it turned out that David and his brother shared the same gene variant. David developed frontotemporal dementia, while his sibling had inclusion body myopathy. Symptoms for frontotemporal dementia are behavioral changes such as outbursts of anger or loss of empathy, increasing difficulty in understanding speech, and movement disorders.
The mutation is exceptionally rare, and for someone who has a family history of this gene, it means that there is a 50% chance of inheriting it and it affects men and woman equally. Additionally, most symptoms do not appear until later in life, so the family has chosen not to have their children tested yet.
Though the family has answers, some questions still remain about the transition David has made over the years. “At what point was that part of him and when was it the illness kicking in?” Letty asks. “It’s overwhelming, but I’m just trying to take it one day at a time. I’ll deal with things as they come, and make decisions as things come.”
The diagnosis answered the family’s questions about David’s health and it was the key to a chain of bizarre health-related deaths in the Gutierrez family history. David’s father experienced a condition similar to body myopathy, but it was never diagnosed.
The fact that the gene could potentially be passed down to her children frightens Letty. She's concerned that by the time they might start developing symptoms, they’ll have already had children.
Right now, there is no way to cure David of his mutation. However, that does not mean one will not be discovered in the future.
“One of the biggest things for me has been the impact on my family and their lives,” Letty says. “It’s very debilitating because really you’re losing the person. The body’s there, but you lose the person. That’s one of the hardest things to deal with. You lose the husband who’s the father, you lose the partner and companion.”
Yet, the diagnosis has finally put to rest the nagging questions of what had happened to David, and her family’s experience with genetic testing can help others in similar situations.
“I’m just so glad that I was able to find an answer,” Letty says. “And now we can do something good with this and bring awareness to other people.”
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Tags: #Dr. Radhika Dhamija, ALS, body myopathy, frontotemporal dementia, genetic testing, Genetic Testing, mayo clinic, Mayo Clinic Center for Individualized Medicine, rare disease, Rare diseases