Living with Uncertainty
Uncertainty is a familiar experience for all people living with an undiagnosed disease – not knowing how to describe and manage the unnamed health issues being experienced, not knowing what the future might bring, not knowing when or how science and medicine might provide more useful answers. In this section of the website, we explore the experiences of people we interviewed regarding these issues.
Uncertainty can be Very Emotional
People we interviewed described a range of feelings about living without a diagnosis. Most said uncertainty can be “very emotional,” and comes with struggles such as depression, frustration, or ongoing confusion. Some felt “driven crazy” by not knowing, or that they “just don’t wanna go on not knowing,” so are “hoping and praying that we get a… definite answer on what’s going on.” Others described a range of emotions that evolved over time.
Flo says she is always waiting for the “other shoe to drop”.
Flo says she is always waiting for the “other shoe to drop”.
I, as a mom to [child], live in a world of limbo.
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Every doctor appointment I'm usually waiting for the other shoe to drop. I'm like, “What's next? What else are we gonna get handed. What's our new obstacle?”
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The anxiety of what else is going to get handed to us. I'm very much of the 'glass is half empty' when it comes to [child]'s medical stuff. So, I live in the world of hope but it's very much pessimistic. I'm not going to get too excited because something always happens and that probably really hit in my world when we got [child]'s hearing loss diagnosis, when she was like two and a half. So I don't allow myself to hope for big miracles because when I do it backfires.
Channing says his frustration eventually gave way to peaceful acceptance.
Channing says his frustration eventually gave way to peaceful acceptance.
It was just pretty much frustration, cause I was looking for answers. And I'm used to finding answers, and I couldn't find answers. Now, as I said, a number of years ago I've kind of comes to peace with that. I mean I still look around, certainly but, you know, you don't always find answers. Yeah, that's not how it always goes. So I haven't given up. I'll never give up. I don't give up. But I have come to the realization that answers may not be forthcoming and that's okay.
Beth worries about being brought down even more while waiting for answers.
Beth worries about being brought down even more while waiting for answers.
Just in general. Just, I mean just waiting. Waiting and waiting and waiting, and just being very hopeful that we, again, find out something. Because, yeah I just wanna be able to know and if I don't know I think that's just, if nothing else comes about of this, I think it’s just gonna bring me down even more, just not knowing. It kinda does scare me of just not knowing what could be.
Some people we spoke with talked about learning to “go with the wind” and abandon themselves to not knowing answers; to stay in positivity; or to stop dwelling on uncertainty. Grace says she focuses on “just help[ing their child] thrive in whatever way” while she waits for more information because she has “no idea… what the future holds.”
Elena keeps her lack of answers in the back of her mind.
Elena keeps her lack of answers in the back of her mind.
It’s just more in the background for me. I just see it as, if I let myself wait for the answer, all I'll do is stress myself out. And I wouldn't really wanna keep doing these things to still wait for an answer. And I just think that's not a good situation. And, just keep it in the back of my mind, but don't dwell over it.
Vity says he "throws some positivity out there."
Vity says he "throws some positivity out there."
Like I said I try not to overthink that stuff cause I mean, it's just gonna be stressing for no reason, you know. Because my mentality when I went through my cancer was just like, “You know what? Let's just do this,” you know. And here's no reason like dwell in all this depression and sadness, and just throw some positivity out there, you know. And if we find something then we find something, you know, then life goes on and we try to make the best one we got, you know. 'Cause I have too many near-death experiences to let that stuff bother me.
Hollie has learned she has no control over her uncertainty.
Hollie has learned she has no control over her uncertainty.
It brought clarity of things will be okay, even if you don't know. You know. And that's where you just have to go with the flow, literally. Like, you're in a hot air balloon. You have no control over what direction you go. It's just as the wind blows and that's the clarity I think that I brought from it. Like, you try to direct yourself into making choices or you could try to follow a path, but the clarity was you just go where the wind blows. You have no control.
That feels so freeing in a way, I would imagine.
Literally. And when you think of undiagnosed condition or the options of treatment, I have no control over those options of choices. Like, no one does. We can only go with what's available and what seems to work or doesn't work.
Wanting Answers
The people we interviewed wanted a way out of uncertainty for several reasons. Patsy wants to know her child’s diagnosis so she would “someday… know what to look for it he would… come down with something.” Sarah notes that her family is “not the only ones out there waiting for those answers;” others could also benefit from diagnostic answers. Other people said they wanted to know what their child’s life expectancy might be, how to prepare for home adaptations or equipment that might be necessary, or how future generations might be affected.
Marisol wishes she had a good way to explain her son’s situation to other people.
Marisol wishes she had a good way to explain her son’s situation to other people.
My friends and co-workers they see [son's name] a lot because we're in office every Tuesday for appointments for him. But they would ask me, how, if we knew I have more information. I'm like, “No, we don't.” But they've been dealing with it more better than I have. I think I was just more, like, anxious to just, to explain to people how my son is - why everything looks different, why he has a feeding tube.
Beth says it’s hard not knowing, and she has many unanswered questions about her child’s future.
Beth says it’s hard not knowing, and she has many unanswered questions about her child’s future.
Just not knowing and doing all this is very, very, it's emotional. Just not knowing and not having any answers, and hoping to get answers.
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Ugh. It's not a good thing, not knowing. Cause you, I mean, if you don't know what is her, I mean, what could possibly be the life expectancy? Or, you know, you always have those questions. And even though they say, “Oh, it's all gonna be okay, you know, it's not nothing, this, not nothing that.” But you don't know that. We don't know what's going on. So, I think I just get a little emotional about it.
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Everything else just, basically her growth and development and what she's gonna be able to do in life. And, you know, if she's gonna be small stature, like, for the remaining of her life. I mean, you know, is this something, are we gonna have to buy an extension pedal to get, in a vehicle for her to be able to drive? Is she ever gonna be able to drive? You know, those are what I'm just looking out for her future. Like, futuristically. What we're gonna need to do, or what could happen.
Patsy wishes she could know more about potential impact on future generations.
Patsy wishes she could know more about potential impact on future generations.
Well, if he would ever have kids, is it gonna get passed down? Is he only gonna live to 30, or 40, or will he make 200, you know? These are the kind of things that would be nice to know or when he has something, is it serious, is it not, you know? That's the hard stuff, and not knowing drives me crazy.
What can science and medicine offer?
Some people we interviewed discussed how ongoing scientific research impacts their experiences with uncertainty. Naomi noted that at this point she feels science has done a better job of developing tests than of providing answers to people living with undiagnosed diseases. Others observed that it could be a long time before questions are answered, because “it’s a slow process and uncertainty may not turn into clarity “in our lifetime.” Vity said he doesn’t mind it taking time and maybe not helping themself, “as long as we figure it out” in time to help his child.
Erin understands that scientific knowledge needed to arrive at more certainty is growing all the time.
Erin understands that scientific knowledge needed to arrive at more certainty is growing all the time.
The knowledge base is just growing over time and so there's only a better chance that something will be identified. Or, you know, an explanation will be available the longer we wait or the longer time goes on. So it's hard for me to say that I wish I would have done testing earlier, because there's already not an answer in current state and there would have only been even a less chance of there being an answer, you know, previously when the knowledge was less about the human genome.
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Even if you don't find a solution today, that there might be a better chance five years from now, ten years from now, you know, as knowledge continues to grow. There's still the chances of finding an answer only grow with time.
Jenny feels science may not ever explain what is happening to her and to her child.
Jenny feels science may not ever explain what is happening to her and to her child.
For the science part, it's a lot of work. It's crazy amount of stuff that they could go through this, with the science, you know, to try to figure this out. I understand that it's hard and it's a study and everybody's working to try to find an answer. But sometimes I just feel like there's not going to be one.
Beth is hoping and praying science produces changes for the better.
Beth is hoping and praying science produces changes for the better.
I'm hoping, I'm really hoping and praying that we get a definite answer on what's going on. But I understand, too, that we may not. And that's what I'm fearing. And that's, I mean, I just don't wanna go on not knowing. And then they say, too, it could be 10 years from now, before we come up with an answer. And very much so, I mean, with technology and stuff, I would hope things change and there's better testing out there. But I mean, this, again, this is all new to me and I'm just trying to figure it out myself.
People also had a lot to say about the role doctors and other clinicians play in trying to get answers. Many expressed frustration that their doctors appeared unwilling or unable to “explore other avenues” beyond the one or two being investigated, or adopted a “wait and see” approach instead of testing for everything. They also felt that “all of the tricks” often prescribed for patients “don’t work for [my child],” and that once dead ends are reached, clinicians may have few options to offer for how to move beyond uncertainty.
Sarah wants to believe science will provide answers but remains frustrated by long appointments where “we get nowhere.”
Sarah wants to believe science will provide answers but remains frustrated by long appointments where “we get nowhere.”
The genetics is very frustrating, it's frustrating. It's long appointments, hour and a half, two hour appointments and it seems like we just go over things and we get nowhere. We don't get to go, you know, we don't get a diagnosis which is understandable because you don't want a child diagnosed with something they don't have. But you also want answers, and so that's where it's really frustrating. You know, my mind is just wrapped around everything that they're saying. Well, “Maybe this, maybe this, maybe this.” or you know, “We should look at this in the future, but we're not gonna do it for another year.” That's where the really frustrating thing is, is that check in only once a year. Sometimes it's comforting just to go to the appointments and be able to talk things over, but when you see them once a year it's extremely hard to do.
Jenny has a wide range of emotions about why it’s so hard to figure out what’s wrong.
Jenny has a wide range of emotions about why it’s so hard to figure out what’s wrong.
I was surprised. And I'm still like, I don't know if word is surprised. Maybe surprised and irritated, frustrated, upset. Like, why, how, why is it so hard to find out what is wrong with me and what's wrong with my son?
Erin was shocked and disappointed when a prediction about her diagnosis turned out to be wrong.
Erin was shocked and disappointed when a prediction about her diagnosis turned out to be wrong.
I was shocked when my father told me that his results were negative. I thought he was interpreting it wrong. He sent me, you know, all this paperwork. I thought maybe they had made a mistake somehow, or like, you know, I don't know. I tried to rationalize that this just didn't make sense. I thought I had something that sort of made logical sense in my mind and then this just kind of blew that up completely. And so, I really struggled with believing his results at first because it made something no longer make sense that I had sort of thought made sense. Yeah, so anyway, yeah that was that was difficult to hear. And again, it wasn't even because there was any treatment or anything. It just, having that answer, or having an explanation is intellectually satisfying, I guess. You know, even if there's no treatment course.