Listening to patients with suspected genetic diagnoses: A narrative perspective

The internet (and now social media) has been a source of information about medical conditions and their treatments for some time (Bouwman et al., 2010; Dragusin et al., 2013; Finney Rutten et al., 2019; Jia et al., 2021; Wallace et al., 2022). Clinical geneticists may be confronted by patients or parents who have done internet “research” about potential diagnoses and treatments for their medical issues. While these suggested diagnoses might not be relevant at times, in some cases, these internet searches may reveal the correct diagnosis for rare diseases that would not have otherwise been considered by the provider (Bouwman et al., 2010; Greenwald, 2005). Through virtual one-hour interviews with patients or their caregivers (University of Kentucky IRB approved protocol #86093), we present the journey of seven families who came to their providers with the correct diagnosis ahead of their clinical genetics appointment (Table 1). For narrative clarity, we present their experiences in three sequential chronological stages that reflect their experiences. SGSH: c.734G>A (p.Arg245His)/c.892T>C (p.Ser298Pro) Parents of patients with undiagnosed genetic disorders may feel a strong motivation to discover their child's diagnosis. They often have seen and known their child in ways that were not possible for their medical providers. These parents may have access to diagnostically relevant information that is not available to their treatment team. The mother of Patient 6 said concerning her daughter “I'm seeing her movements and the way she behaves and her acts and just everything about her all day, every day, in every shape and every form of it, which is why I could see it, some of those little nuances that [her providers] could not see in that 30-minute session…. I can see why doctors can overlook certain things because you're not spending your life with these people to see the ins and outs of everything.” Parents of patients with undiagnosed genetic disorders and the patients themselves may feel unsure of where to turn or what to do. The dilemma of the patient and family can be compounded by the medical provider's lack of understanding of the situation. As the mother of Patient 3 said, “The most challenging part is physicians not being aware and being just as lost as you.” Prior to receiving the diagnosis of their child's genetic condition, many parents sensed something was wrong with their child but they had no explanation. Some felt guilty they might have done something wrong and worried they were to blame for their child's condition. The mother of Patient 6 said, “It was always this game for myself of, ‘What am I not doing right?’ Or, ‘What am I doing wrong?’ Maybe it's my fault.” The mother of Patient 4 wondered, “What did I do? What did I eat? Was it that ‘McFlurry’ that I had that one time when I was six months pregnant?” I did have somebody who was like, “Well, did you eat all organic when you were pregnant?” And it was just “Are you kidding me?” Little comments like that …. “Did anything happen while you were pregnant? Did you eat something weird? Did you get sick? Did you get a virus?” Those kinds of questions on their face sound well-meaning, but really they don't feel well-meaning when they're received.” I just burst into tears. I was crying so hard because he didn't have leukemia. And I was actually thinking that if he had leukemia, then I would have a path…. But not hitting another wall of nobody knows what's wrong with your child was, to me, worse than finding out your child didn't have cancer…. It tells you the mindset that you get into, the state of mind that you're in when you're just eight years of trying and trying. The mother of Patient 1 noted the awkwardness of being unable to tell others what was wrong with her child. She said, “And when you say you don't know, it's really hard because people don't believe you, for one, that he is really special needs, they question it.” ‘How do you not know?’ I can't even tell you how many times I've been asked, ‘How do you not know what he has?’ She also expressed a sense of isolation because “There is no organization for you for kids that don't have a diagnosis.” Two families were wrongly accused of abuse or neglect by their medical providers before the diagnosis was known. Patient 2 had chronic failure to thrive and severe nasal regurgitation (Figure 1a). Patient 2's pediatric gastroenterologist called the pediatrician and “said that it was a social issue” and that Patient 2's parents “were the problem.” Patient 2's feeding difficulties and failure to thrive resulted from his genetic disorder and were not his parents' fault. At 3 weeks of age, Patient 3 was discovered to have fractured ribs and arm contractures (Figure 1b,c). Her mother said “When they came back to us and told us about the fractures, they immediately followed up with, they contacted Child Protective Services. Without warning, without conversation, without explanation, it was ‘We found this. As a result, this is now taking place.’” The parents' interaction with Patient 3 in the hospital was monitored constantly. This unexpected situation was traumatic and fearful for the parents. Her mother said, “I've never cried so much in my life [as] during that hospital stay.” Patient 3's fractures and contractures were the result of her genetic disorder, not parental abuse. Many of the parents of patients in this study took the initiative to search their children's symptoms online and found answers for themselves. The mother of Patient 6 had concerns during infancy and went to her pediatrician by 1 year of age because her daughter was “never laughing” (Figure 1d,e). “I never got those baby giggles and I didn't understand why,” she said. Subtle concerns with her development persisted during childhood to the point that by third grade the mother “could tell she's regressing.” Through social media, she recognized that some of her daughter's traits were also present in a girl who appeared on her TikTok feed. “We had a pediatrician's appointment and I told her, I just said, ‘Listen, it sounds crazy. I saw a TikTok. This is what it is.’” After a referral to Genetics, her suspicion was confirmed. The mother of Patient 4 noticed her son's “face looks like us and his eyes are completely different” (Figure 1f). She also noticed he has long hair on his elbows, searched “hairy elbows” online, and “something called hairy elbow syndrome came up.” She found an older website with photos of the faces of children with the syndrome. She exclaimed: “And I almost fell out of my chair. And at that point, I had said a thousand times, oh, I know this is it! I know this is it!” Subsequent genetic testing proved she was correct. The mother of Patient 1 was approached by a person who visited her home and persistently urged her to look into the possibility that her son had a rare genetic condition. At first, the mother was skeptical, but later she looked this syndrome up online. She “scrolled through looking at all the kids, and I came across a boy that looked exactly like him (Figure 1g,h). And that's when I thought, “This actually might be it. This could be it.” She told her primary care physician she thought her son had this condition. Subsequent genetic testing proved she was correct. The mother of Patient 5 “went down the rabbit hole” and frequently searched online for information concerning symptoms such as “bulgy eyes, lump on head.” She “kept looking and looking” until she found a photograph of a little girl in Sweden who looked “exactly” like her daughter (Figure 1i). The mother said after receiving the diagnosis “the first thing I did was I looked over at my husband and I told him … ‘I knew it. I knew it.’” The geneticist confirmed the suspected diagnosis. Many participants in this study were glad they researched the symptoms and discovered the diagnosis for their cases. Some participants came away from their experience of facing symptoms, research, diagnosis, and treatment with new perspectives on their lives, values, and priorities. The mother of Patient 6 said the diagnosis of her daughter's genetic disorder “definitely took some of the burden off of my self-doubt of what maybe I was doing wrong or what I wasn't doing right, so that was helpful.” The mother of Patient 4 likewise noted, “The diagnosis was what helped the most.” She recalled that when her son was finally diagnosed she “was so excited” and her provider “laughed with me and she said, ‘I think you're the only person I've spoken with who was this excited that your son has a genetic disorder that causes all these problems.’ But I was ecstatic. I was so ecstatic that now I had a path. I had the name to call it. I had a goal. I have learned to just accept him for who he is and love him for who he is.” The mother of Patient 1 said, “I don't think people understand how much just being able to tell people what my kid has is instead of people questioning me, there's a lot of freedom in that.” Patient 7, an adult survivor with Fabry disease (Figure 1j), felt his own research in his case made “a huge difference” and he probably would not be alive today without it. His struggle with Fabry disease helps him to “appreciate life every day.” He realizes “none of us are guaranteed another year or two years or even tomorrow, so make the most you can with the current day and give thanks for that.” The mother of Patient 2 said her relationship with her husband has changed for the better. Their son's health crisis caused them to “lean more towards each other” and say to each other that “you and I need to take care of ourselves and our relationship.” What we providers see as a “diagnostic odyssey” is for patient's families an emotional odyssey (Figure 2). In some cases, these caregivers were encouraged and helped by their providers who served as advocates for them. In other cases, they were dismissed, not listened to, merely tolerated, or even suspected of wrongdoing by some providers. Some caregivers felt judged by others. A health crisis that started with negative feelings of guilt, shame, blame, and isolation became the driving factor to take matters into their own hands to find the answer they were seeking. In addition to the expected relief of finding what eluded them for so long, these families were able to find comfort in the connections they were able to establish. They became their child's best advocate. Some expressed hope that in the future more providers will be familiar with genetic disorders and their symptoms. These seven cases demonstrate how patients with genetic disorders and their caregivers became active and significant participants in their care. They were strongly motivated to find answers in these cases, they had access to needed information, and they were on the right track. Genetics providers should be open to discussing the relevance of information and insights offered by patients and their caregivers, and collaborate with them to provide the best care. Robert B. Slocum: Conceptualization, formal analysis, writing—original draft, and writing—review and editing. Anna C. E. Hurst: Data analysis, writing—review and editing. Ellis Shelley: Conceptualization, data analysis, writing—review and editing. Lisa Berry: Data analysis, writing—review and editing. Robert Hopkin: Data analysis, writing—review and editing. Alyssa Rippert: Data analysis, writing—review and editing. Elizabeth Bhoj: Data analysis, writing—review and editing. John M. Graham Jr: Data analysis, writing—review and editing. Katheryn Grand: Data analysis, writing—review and editing. Aixa Gonzalez: Data analysis, writing—review and editing. Yuri A. Zarate: Conceptualization, formal analysis, writing—original draft, and writing—review and editing. The authors would like to thank all participating families. The authors declare no conflicts of interest. The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.