Beyond the Friedreich's Ataxia Basics
Segment 1: FA diagnostic process and journey
In the first segment, hosts Andrew and Esther Schorr discuss the process of diagnosing Friedreich’s ataxia (FA) with neurologist and FA expert David Lynch, MD, PhD, and what that journey looked like for our two panelists living with FA, Matt Lafleur and Kendall Harvey.
Dr. Lynch explains the diagnostic process of FA, from what some of the first symptoms are to confirmation of FA through genetic testing. Matt and Kendall relay their experiences searching for answers, Matt as a young, active boy and Kendall already in her mid-20s when symptoms began appearing. Although they were each at different stages of their lives at diagnosis, coming to terms with their diagnosis and learning how to accept their new reality was a similarly long road for both.
Dr. Lynch then discusses the issue of delayed diagnosis and why an earlier diagnosis can make a difference, particularly in light of an approved FA treatment that can help slow progression in the earlier stages. When Matt and Kendall were diagnosed, there were no targeted therapies available, but the arrival of a new treatment may help speed the diagnosis of FA, if physicians start looking for it earlier, Dr. Lynch says.
Esther: So first, let’s discuss what the diagnostic process and journey is with FA. Because FA is a very rare disease and symptoms can mimic other conditions, being diagnosed correctly can take a long time. So, I want to address this first question to Dr. Lynch. Dr. Lynch, can you explain just briefly the diagnostic process; how does a diagnosis of FA actually come to be and be confirmed?
Dr. Lynch: So, initially, a person will have one of a variety of symptoms, almost always neurological at first — difficulty with balance, difficulty with coordination, occasionally other abnormalities of gait, occasionally other neurologic symptoms, and that’ll cause referral to their physician, usually their primary physician to begin with. In a few cases, the first person — there will be cardiac symptoms that will come initially to a cardiologist. The primary physician will then judge whether these are meaningful, and then either attempt to make the diagnosis themselves, or refer on to a neurologist for more specialized testing.
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- There can be a need for a series of blood tests, perhaps an MRI scan if the situation is correct, perhaps some electrical tests like EMGs and nerve conductions, though in most cases, those aren’t necessary anymore, and that will allow you to bring FA to the highest position on the list of possible diagnoses. How many of these tests the person has to have from the neurologist is probably dependent a lot on their individual symptomatology, how fast it developed and the possibility for other illnesses.
Now after those tests are run, the confirmatory diagnostic tests in the modern world is always genetic testing. You don’t have Friedreich’s ataxia with certainty until you have genetic testing performed. That is easier to get than it used to be, and it’s really required for people to really confirm the diagnosis and move forward with appropriate therapy.
Esther: So that’s a lot of testing up front. And I think we’re going to hear from our two patients now about their diagnostic journey. So thank you. Dr. Lynch.
Andrew: How do you know what you’re dealing with? So Matt, let’s start with you. I mentioned earlier that you were in the fourth grade. You were an avid kid athlete. So how did all this start for you?
Matt: I was, and my journey really mirrors what Dr. Lynch talked about. When I was playing sports, I was playing baseball and soccer mostly. One day I was taken off the side and told that I was getting behind the other kids in things like running and balance and things like that, and it was so slight at the time that we just figured that was the way I walked. That was my little quirk about my gait.
But anyway, when someone told me to check on it, I ended up going to a podiatrist, a foot doctor, who checked me out and, after diagnosing me, told me that my issues seemed to be neurological, not physical. So, he basically said it’s out of his hands. So I was referred to other doctors. I ended up going to doctors all over the state of Louisiana. I was finally diagnosed by a neurologist in New Orleans who finally said the words “Friedreich’s ataxia” for the first time. So that’s how I ended up being diagnosed.
Andrew: Well, we have a lot more to talk about with you, about the shock of that for you and your family. And if I’m not mistaken, it was your coach who said to you and your parents, let’s get him an arch support for his foot, and that’ll take care of it. But of course, that didn’t take care of it. Let’s go on to Kendall. Kendall, you were not in the fourth grade. Twenty-five, married, and playing volleyball, right? So how did it start for you?
Kendall: Right. So, yes, my journey was a little different than a lot of patients in that I was diagnosed as an adult. I was playing in a social sand volleyball league and just kind of noticed I was falling a lot whenever I’d be going for a ball. It seemed like I was diving, but I wasn’t, and I was not able to run well anymore. And just a lot of what came easy to me no longer did that. And so “Dr. Google” convinced me that I had an inner ear problem, and a quick visit to the ENT ruled that out.
So I went to my just general physician, and she agreed that something was going on and conducted a pretty wide-ranging blood panel, and everything came back normal, which normal is what you want until you’re looking for something to kind of explain what’s going on. And she recommended reaching out to a neurologist. And after like about a four- or five-month process of ruling various things out, we did the genetic blood panel and confirmed that I had Friedreich’s ataxia. And the day I was diagnosed with it was the very first day I had ever even heard about it. So, it was quite a shock.
Esther: Yeah. No doubt. So that kind of confirms what you were saying, Dr. Lynch, about that. There’s a lot of testing and then, ultimately, the genetic testing that can confirm this after all of this gathering. … So, following up with what both our patients have said, Dr. Lynch, what’s the importance of early diagnosis, particularly now that there’s a targeted therapy — I know we’re going to talk about that in a little while — that could help in the earlier stages?
Dr. Lynch: So, I think the first importance of rapid diagnosis is knowing that you don’t have something else. In children, the things which cause ataxia in 9- to 10-year-olds are brain tumors, which have their own inherent treatment. So, the first thing … that’s an important thing to rule out as you move toward a diagnosis of FA, for example. Remember, it rules out other things when you’re diagnosed with FA, and that’s always been the situation until now.
Now, because there’s a proven treatment for people 16 and older, there is something that one can do to slow the progression, help stabilize disease, at least for a few years. So it’s a very different situation, which demands a more aggressive approach. In addition, while nothing is approved for age 16, there are clinical trials beginning to come along for individuals under 16, so the diagnosis is necessary in order to participate in such trials, which may offer therapeutic benefit in the future.
Esther: OK, so what I’m what I’m hearing is that now that there is this therapy that potentially could — it sounds like it could potentially help slow progression, but obviously you need some history with the drug to be able to say definitively that that’s the case. But how often is FA misdiagnosed? You know, what other — you mentioned one disease — but what other diseases can FA be mistaken for?
Dr. Lynch: So I think misdiagnosis is not so common, but instead what you hear from Matthew and Kendall is delayed — more general diagnoses without getting to anything specific. And that takes a lot of the time. There are some misdiagnoses that occur in children. The most common misdiagnosis will be two things: neuropathy, inherited neuropathy, Charcot-Marie-Tooth, as well as what we’ll call developmental coordination disorder — simply being on the clumsy side of usual so that it’s a question of whether it’s a disorder or not. Now, time will sort both of those out. In adults and young adults, the most common misdiagnosis is multiple sclerosis, which has a very similar anatomy and a very similar symptom profile, but substantially different MRI scans. So that should sort out, but that doesn’t always happen as expeditiously as you would like it to.
Esther: So given that, is there something that you would say could be done in the healthcare community to speed the diagnosis of FA and make sure that there’s earlier intervention?
Dr. Lynch: Well, I think there are … the hardest thing is in that early time when … time is very important diagnostic tool. If things are bad, they will get worse. That’s very simplistic, so everyone uses it. But there’s one way to sort of get past that. In cases which are known treatable illnesses, we as physicians look for them earlier than we justifiably might look for them, simply because we know there’s a diagnosis that can be preventive — things like the rare disease Wilson’s disease, which, if missed, is deadly and, if found, is entirely treatable; certain vitamin deficiencies that cause ataxia, the rules are you never miss them. So, you send those tests sooner rather than later. I think adding FA to the list of disorders that have potential treatments and physicians should look for sooner rather than later would advance the diagnostic, shorten the diagnostic journey, and make it easier.
Andrew: That’s good information for anybody who’s connected with this webinar today. If it’s suspected, talk to your doctor about this to make sure that you get the right diagnosis. Just to underscore one point, though, doctor, genetic testing looking for this then ends up being definitive, right?
Dr. Lynch: Genetic testing is essentially 100% sensitive and 100% specific if done correctly.
Andrew: OK, so let’s start with you, Kendall. The shock of being diagnosed with something you’ve never heard of, this very rare condition, and also the shock for your family. Just talk about that for a minute.
Kendall: Sure. Well, it was a shock when the doctor that eventually diagnosed me was walking through all of the possibilities of what it could be, ruling out tumors or MS or deficiencies and everything and then ending at genetic conditions. Our immediate response was, well, it can’t be genetic because everyone in my family is fine, my parents, my big brother, my aunts, uncles, cousins, nobody has anything genetic. So, it was hard to think that I could.
And when I was diagnosed, there was definitely anger and denial. And I definitely had to wade through those stages of grief before arriving at acceptance. And then it was, now what do I do? Now I’ve accepted that this is my new reality. What can I do about it? And in 2013, there wasn’t anything I could do about it. It was really overwhelming to be handed a diagnosis that there was no hope to combat. And it was an emotional process, to be sure, trying to readjust what I thought my life plan was to what it realistically can be, and what I hope that it could still be.
Andrew: Well, what our audience is going to hear as we go on in this program, though, is how you are two very positive people. So ,we’re going to talk about how you pick yourself off the floor and your parents as well. We should mention that you do have someone else in the family ultimately diagnosed with FA, and Matt, you were shocked. You have two sisters, I think, one of whom was also diagnosed with FA and has gone on to have a family, right?
Matt: Right, absolutely. She’s a mother now of three awesome kids, so really happy for her. And yeah, really happy that in spite of FA, she was able to pursue that dream of hers, you know.
Andrew: So, Matt, did you have to go through the grief process as well?
Matt: Oh, absolutely. Yeah, Kendall, I think I was right along with you. That was my news. I was a lot younger. So my understanding was that when you were diagnosed with an illness, there was a medicine or a surgery that everything would be better for you. But when I was diagnosed with this strange term “Friedreich’s ataxia,” I found out there was no treatment, no cure. So that was really devastating, especially for a young kid. I would find out that it would get worse, and there was nothing I could do to make it better. So having hope was a really difficult thing for me at the time.
Andrew: Well, you’ve gotten here, and we’re going to talk about that as we go on.