Juliette Vila Sinclair-Spence is a passionate Acanthamoeba keratitis (AK) Warrior and Rare Disease Patient Advocate as well as the Founder and Chairwoman of Acanthamoeba keratitis (AK) Eye Foundation. With her patient voice, she brings personal and first-hand experience of what it means to be affected by Acanthamoeba keratitis as well as its aftermath.
Her goal is to raise awareness about the rare disease Acanthamoeba keratitis by educating contact lens users (Contact lens and water don’t mix!), eye professionals to stop misdiagnosing Acanthamoeba keratitis, understand the impact the disease has, providing the right medical treatment (refer to an expert), support like pain management (excruciating pain) as well as mental support (depression) and encourage all contact lens manufacturers that a “No water" label on all packaging would help the goal.
In this podcast, Guy Lacey, Manager at FIECON, talks to Juliette about her patient journey since she contracted Acanthamoeba keratitis in 2016 and shares the details of her long and arduous journey to diagnosis and finally treatment. She has devoted much of her time to help others learn more about this disease and has became an advocate for patients, families and providers by creating the Acanthamoeba Keratitis (AK) Eye Foundation.
Acanthamoeba keratitis is a rare but often devastating ocular condition that can lead to severe vision impairment, corneal transplantation, and even enucleation. It is caused by a free living amoeba that is typically found in soil and water, including tap water.
The main risk factor for AK is contact lens wear. AK presents initially with a high degree of pain, often out of proportion to the clinical signs observed. Many times, this condition is misdiagnosed as herpes simplex keratitis.
Our innate immune response can fight the infection, but once the amoebas have breached the corneal epithelium, it is difficult for the immune system to fight these parasites due to the fact the cornea is an immune-privileged tissue. Cysts can remain in a dormant state on corneal tissue for close to 3 years making recurrent infection possible.
Guy Lacey 0.32
This is the FIECON podcast where we talk to patient advocacy leaders and thought experts on a particular disease to understand the burden, unmet needs, patient journey and potential future developments for diseases which may not currently have the voice they need.
Today we introduce a patient advocate to speak about Acanthamoeba Keratitis (AK). Juliet, welcome to the podcast. Could you give a brief introduction of yourself?
Juliette Vila Sinclair-Spence 1.08
First, thanks for having me. My name is Juliette Vila Sinclair-Spencer and I have an international background in project management, in marketing and communication. I am the founder of the Acanthamoeba Keratitis Eye Foundation, as well as the face for the AK support group targeted worldwide. After contracting AK in 2016 and experiencing the pain, the lack of information, protocols for diagnosis and treatment, pain management and support I experienced, I've become a very passionate patient advocate as contact lens users should be educated that contact lenses and water don't mix. Eye professionals should stop hassling with our eyes and understand the impact of AK and pain associated with this disease.
Guy Lacey 2.01
Amazing thank you very much. So that listeners can get an overview of the disease, what and how would you best define the clinical manifestations of AK?
Juliette Vila Sinclair-Spence 2.21
Well AK is a rare disease but lately becoming more common. It's a devastating eye infection that affects the cornea, the transparent window of the eye. Some people have it unilaterally, which is in one eye, or have it bilateral, which is in both eyes. Some have Acanthamoeba Scleritis Keratitis (ASK), which is a rare and painful complication of AK affecting 10 to 18% of patients. It can lead to severe vision loss, cornea transplantation and even enucleation, meaning having remove your eye, estimated for 5 to 10% of patients. In extreme cases, the Acanthamoeba can cause a systematic infection beyond the eye, including into the brain in some cases.
AK is caused by a free-living amoeba that is typically found in soil and bodies of water, for example lakes, ponds and oceans. This includes tap water, which is important as this includes showering, bathing, swimming in pools, bathtubs and rinsing contact lenses and cases with tap water has risks of infection.
The symptoms of AK can differ from person to person and range from mild to extreme. For most AK patients, which we refer to as ‘AK warriors’, the following symptoms are common: foreign body sensations (feeling as if something is in your eye like an eyelash or sand), inability to work, irritation of eye glutinous, red and watery eyes, mild to extreme light sensitivity (called photophobia), excruciating pain, blurred vision, partial or total vision loss and headaches. Some patients may have more than one symptom, so we always recommend if you’re a contact lens user and have been in contact with water and your eye is feeling different, take the contact lenses out and get your eye checked by an eye professional as soon as possible. And don't forget to tell them that you are contact lens user and have been in contact with water. If available, advocate for an early confocal scan.
Guy Lacey 4.55
That is super interesting to learn that even tap water can be a way to be infected by the amoeba.
Juliette Vila Sinclair-Spence 5.02
Yes, that is what we miss when people are told about the do's and don’ts of using contact lens, but they don’t explain in detail what it means by ‘no water’. Many people buy contact lenses that say they are for swimming. So this is really important.
Guy Lacey 5.27
And in terms of the population affected by this disorder, how would you best summarize that?
Juliette Vila Sinclair-Spence 5.33
AK is most often seen in contact lens users, but there have been cases in non-contact lens users. No one truly knows how many AK patients there are worldwide and that would be one of the dreams as an advocate and founder of the AK foundation. But what we have seen in the support group and professionals who attended the Cornea Worldwide Congress this year in Chicago, is that AK is increasingly and should be recognized as a severe, side-threatening ocular infection worldwide. As Professor John Dodd of Moorfields recently mentioned, we are talking about one in 20,000 contact lens users per year in the UK, which is also for the Netherlands from a study in 2016. And so, with an estimated of 140 million contact lens users across the globe, there are approximately over 7,000 new patients becoming infected each year with this rare eye disease.
Guy Lacey 6.38
That's a large number and much larger than I was anticipating. And the fact that you can't identify the full population is, as I'm sure we'll get to, is probably due to their misdiagnosis?
Juliette Vila Sinclair-Spence 6.52
Yes, and you might think 7,000 new patients is a lot, but for the medical world sometimes that number of cases is not worth studying.
Guy Lacey 7.07
So, the average AK patient, what they look like and how are they identified? We slightly touched on misdiagnosis, but what do they look like as a patient?
Juliette Vila Sinclair-Spence 7.18
Each AK warrior has their own journey. For some, my some it may start mild, for others is may be extreme from the beginning. From a clinical perspective there are key characteristic signs. Symptoms like intense pain out of proportion to clinical signs. Sometimes you will see eyes are not too red but pain is already high. They may have extreme photophobia. No improvement from standard antiviral, antibacterial or fungal therapies. It can present as the ring shaped stromal infiltrated in later disease.
Regarding confirming the diagnosis, there is no standard approach and it all depends on the clinician and what is available. Culture, which for many shows a negative when in fact it positive, PCR, cornea biopsy, which is a very painful procedure. After that it will be in vivo cornea confocal microscopy imaging (confocal scanning) which is the golden tool as it can provide and immediately answer on whether they are trophocyte cells or not, and to what level. Of course, it is not only having the machine, but also a highly professional experience clinician who can read the images.
When it comes to misdiagnosis. Sadly, what we've seen with the AK warriors community worldwide is that 80% of them are misdiagnosed between bacterial, viral and fungal. From that, more than 50% were diagnosed with herpes simplex, meaning corticoids being given, making the situation worse.
Guy Lacey 9.12
Yes, and I can imagine that if AK patients are given corticoids it acts as a fuel for the infection. So, it only gets worse.
Juliette Vila Sinclair-Spence 9.21
Yes, completely. There are studies going around it, but it's becoming more known that if you give corticoids from the beginning without being diagnosed as AK, the eye will go dormant for a while and the trophocytes will go into cysts (I will explain the difference between the trophocyte and a cyst later) and so you feel better. But the moment you stop with the corticoid, or during the corticoid, it might get worse because then the cyst opens into trophocyte and the attack, as we call it, is even worse / more aggressive.
Guy Lacey 10.13
And in terms of how the disorder impacts human physiology, can you summarise the pathogenesis of the disorder?
Juliette Vila Sinclair-Spence 10.22
As I said earlier, it's important to understand that Acanthamoeba has a lifecycle of two modes. The active mode, as we call it, is the trophocyte stage when the parasite feeds, grows and replicates itself. In this stage you might experience a lot of pain, light sensitivity, sometimes decrease of vision and normally when the AK treatments need to be used to attack the parasite. Then you have the passive mode, which is the cyst stage when it's dormant and does not show much activity. In other words, they go into hibernation and form protective walls to protect themselves to survive for long periods of time. And unfortunately, one cannot predict when they will become active. This is an example of what happened to me. I got an infection, and we didn’t know how or why they went into the cyst mode within a short time. After six months they woke up and then they did the real damage in my eyes.
Regarding the pathogenesis, Acanthamoeba uses small cuts or abrasions in the cornea to invade the eye, probably due to wearing contact lenses or trauma to the eye, taking advantage of that while using the bacteria on the eye as food. Regarding fatality with AK, there is a lot of damage to the cornea as it is literally being eaten by the parasite and it can migrate deep into the corneal tissue, making it more difficult to treat, especially if it’s in cyst like in my case. You have no energy, your eye can’t stop tearing, your sinus and your head hurst. Your body's trying to fight the infection, the inflammation, coping with the excruciating pain, the deprivation of sleep and your mind spinning, patients go in the dark room, depressed, isolated from the world, feeling we will never make it out of it. Or we are missing many experiences and many of us end up with PTSD, afraid of a relapse, traumatized by the intensity of the treatments and procedures. And for many there is the aftermath, like glaucoma, dry eyes, death perception, not being able to drive in the night sky, trigeminal nerve pain, among others.
Guy Lacey 13.07
Horrific. And when we want to characterize the disease in health economics, which is what we do, this not just how the patient feels during having the disease, but also afterwards the aftermath. This PTSD, not wanting to go back into water again. How to quantify this, these experiences and things you miss out on is very tricky, so it's great to hear some of the things that happened to patients after they are treated.
Juliette Vila Sinclair-Spence 13.41
Yes, not easy but it's the reality.
Guy Lacey 13.47
In terms of treatments that are currently available to AK, what's the standard procedures? Obviously, if you get misdiagnosed, I'm sure you get the wrong treatment. Is there any right treatment that doctors can prescribe?
Juliette Vila Sinclair-Spence 14.02
Actually, as there is no standardized protocol treatment, currently people are being treated with off label and unlicensed treatments, being antiseptic drops, including PHMB, corexind and troponin which all have an anti-Amoebic effect, but they are not for AK officially. Also, they are used in Ketoconazole which is an antifungal to help fight AK among all the medication. So it is really a puzzle. And that is without a therapeutic cornea transplant to detach the eye from the parasite and it's up to the eye professional to determine which is the right approach.
What we see is sometimes the professionals stick to their own opinion while they're not listening to what the AK warrior is experiencing. And example, you can have five different approaches in the same city. The duration of the therapy may last from six months to several years, depending on each case. Once this case is eradicated, which can never be confirmed 100%, for many a cornea transplant is what they need to restore the vision they lost.
Nowadays, we have developed the first official licensed therapy, which contains high concentration of BHB, should be given in monotherapy and with a standard protocol. We know that they are busy in getting the official approvals via the EMA and starting the process with FDA. Having said so, due to the urgency of having the right treatment for this rare disease and that time is of the essence, there is a compassionate use program available in some countries and is up to the doctor to request access to the product if there is a need for a patient.
Guy Lacey 16.14
It's great that there's something on the horizon. How many doctors do we think are able to clearly diagnose and therefore recommend this treatment in Europe?
Juliette Vila Sinclair-Spence 16.26
You're talking about the treatment on the horizon? It's not about the doctors. It's about the AK warriors asking the doctors to request it. What we see in the support group is we are educating the AK warriors to advocate for themselves and talk to the doctors and tell them what is available, what other AK warriors have done, or the doctors have applied to them. And I don't have it in my head, but there are a few countries that this compassionate program is already available. But I would say if you’re listening, and you’re a doctor and you believe you can help an AK warrior, just contact SIFI to see if they can provide it to you. Trying is always better than not doing anything.
Guy Lacey 17.30
Now to move onto the burden of the disease. We want to understand, from your opinion, what is the quality-of-life burden, clinical and economic. If you could give us an overview, that'll be great. I'm sure we spoke about some of these points already, but just summarize these.
Juliette Vila Sinclair-Spence 17.50
AK is not just an eye infection, it's much more than that. And it's important that the community and the professionals understand that because what we see is many people say you just have an eye infection, just deal with it, it will be over in a couple of weeks, or you are exaggerating, and that pain is not real. So really AK should be seen as a very aggressive, painful disease.
Regarding the quality of life when you go through AK it's not only you. And if I get emotional, I say sorry in advance. It has an impact on your surroundings and your family, friends and co-workers. You're hiding in a dark room as you can handle any sort of light. And the pain is excruciating. You're having to food drops every hour nonstop for minimum three days so you don't sleep. And they are burning. You isolate yourself as your life is paused and you don't know when you will be able to go back to your normal life. You have no strength, no focus to carry any activity, even just the simple task of being with your kids, it's exhausting and excruciating. You feel as a failure as you can’t do what you used to do. You need to depend on others 100%, and that is not easy. Your partner, in my case, needs to take time off to take care of the kids and you. And take you to your medical appointments. And for others, it might be their parents and friends. Your mind takes you down the rabbit hole and is difficult to get out of it. And when you see yourself in the mirror and you don't like what you see, and finally, always on guard, afraid of water and that there might be a relapse.
On a clinical burden as a rare disease sadly it’s not on the radar of high professionals, so lots of misdiagnosed and missed treatments. Not only do we need to fight AK as an individual, but we also need to fight the medical world as you need to find the right professional that knows about AK and understands the journey. Not understanding the level of pain we experience, a pain of having a parasite in your cornea, damaging the end of your nerve and trigeminal nerve pain. Taking eyedrops that are so toxic that they burn your eye and thin your cornea. We are in so much pain that we want to literally pull our eye with a fork and many want sometimes to end lives.
Apart from that it’s being able to have access to the medicines that you have been prescribed. For some outside of AK it's up to the patient to make sure that they fund the medicine so they need to import it, which means taking time and jeopardizing the treatment. If they don't have the experience, they should refer them to a physician who has treated AK before. Time, pain and clinical outcomes are never on the patient's side.
And about the economic burden, the economic impact has to be seen from different points of view. Between not being able to work, which can go from six months to years, depending on your journey, the frequent doctor's appointment, the treatments being medicines or procedures and the travel. That is a lot. I am in the Netherlands. I was grateful that my health insurance system did cover most of the costs. But for many it comes from their own pocket as insurance that does not recognize the disease, meaning having to pay for crucial eye drops that are needed to fight infection or because you're not working then you don't have health insurance, mainly we're talking about U.S. and South American countries.
Guy Lacey 22.17
Thank you for that. And I really appreciate you telling your own story. These patient perspective podcasts, where patient advocates often have had the disease themselves. It's really, really amazing to hear your story and coming out the other side of it and what you're doing in the disease. Thank you so much for sharing. I really appreciate it.
Juliette Vila Sinclair-Spence 22.44
Thank you for giving me the opportunity to do it.
Guy Lacey 22.47
As you said, in these countries where health care is maybe something that they can expect, like in the Netherlands or the NHS in the UK, you can sometimes get most of those things kind on the health insurance system. As you said, these countries like South America, the U.S. and other less affluent countries it's not so easy, let alone getting the diagnosis, but also getting any of the drops or anything paid for, especially if we imagine a new treatment comes out, I wonder what the price will be and how available it will be for these patients.
Juliette Vila Sinclair-Spence 23.32
Yeah, that's a good point. I mean, we are happy that there's something in the future for AK warriors that maybe will make the journey easier to treat their eye. And we hope from an advocate point of view that is going to be available for them or free or at a realistic cost for them.
And to share something with you, there was an AK warrior in the support group who was bilateral AK (in both eyes) and he was blind for more than a year because they were treating it in a different city than he is based and as an infectious disease because as we see that sometimes infectious disease take over and can add more value than an eye professional. He needed a cornea transplant and when they called insurance to ask for it, they said, well, they would not cover it because the doctor is based in another city. So he was also powerless.
And there was another person who had AK in one eye and when he was asked to have a cornea transplant to restore his vision, the health insurance said to him, ‘well don't worry, you have the other eye to use, so no need to have a cornea transplant’ and that makes me so angry. In some ways, I wish I could have something to let others experience what we go through and then I believe things will change quicker.
Guy Lacey 25.25
It's tricky with the rare disease because, as you said, there's only so many patients and even less who are advocating, so getting this educational piece out about how horrible and burdensome the disease is, doing these talks and similar things, just getting the word out there, is so important. Thanks again for helping us help you do this.
If we look at the unmet need in the disease, such as the educational piece, prevention and everything in between, what are the key unmet needs, in your opinion?
Juliette Vila Sinclair-Spence 26.06
From an AK warrior perspective there are several. One is prevention, to educate contact lens users about the dangers of water and contact lens, can help prevent it. Second, would be a care package, having a standard protocol to treat AK as well as pain management and psychological support, where the patient is supported in all ways and not having to fight for what they need. Third would be education, to educate clinicians and health care professionals about what is AK and on different levels. It would be how to diagnose it, to have a confocal scanner as a standardized protocol method to diagnose AK, make it a norm to always consider AK in all contact lens and in any case of cornea trauma with exposure to soil or contaminated water.
If you're not experienced with AK or there is no improvement with initial treatment, refer to someone as time is of the essence and most importantly explain to them that your priority right now is to treat the infection, eradicate the parasite, and that later you will focus on the vision. Because what we see is patients are not told this and of course, most of the patients have decreased or loss of vision because of the parasite. And it's completely panic mode. So, we try to remind them that they first need to eradicate the parasite to be able to then help restore the vision.
Educate on how to treat, by having an official standard protocol to treat AK, target the trophocyte stage and the cyst stage. Make it nontoxic and available for the patient at hand the moment they are diagnosed. Taper down to drops slowly and keep an eye on how the eye is responding as a potential relapse is the main worry of the AK warrior.
Keep in mind that each case is unique. What for one patient might work, for another one it might not. Consider how to manage pain. There should be a standard protocol for pain management and refer to a pain specialist from the first day of diagnosis. Normal over-the-counter painkillers do not work and we also need NEP blockers added to them.
On the educational point of view, it is to educate on how to support emotionally, refer them to a mental counsellor from the beginning of the treatment and to the Facebook support group, to let them know they are not alone in this journey.
And lastly, which is very important, is the unmet need in the worldwide reporting system. We need a system to help track all the cases of AK by numbers, geographical location, suspected infection, infection by gender and age. This will help us identify trends, to then educate these groups and the at-risk population.
Guy Lacey 29.52
Amazing. Thank you for that. Typically, when we speak to different patient advocacy groups from all kinds of rare diseases, often the thing that comes up is education. I always education. Education of clinicians, education to patients who might have it so they can ask clinicians the questions that they need to get to get to the right answer and the right drug and everything in between. It's not just the clinicians that need to know, it's also the patients that have it. And even when they have it, knowing what to ask for and everything like this.
Juliette Vila Sinclair-Spence 30.27
Yes and that's why for us the support group is very important because when they come in, a part of being afraid and lost and not knowing what to expect. They don't know if they're having the right treatment or what to ask. Because what we've seen is, sadly, some doctors because they are professors at a high level are considered to always be right. So, AK warriors need to advocate for themselves. And in the support group, that's what we're doing, educating them on how to advocate for themselves, but keeping it in a private setting.
Guy Lacey 31.11
That's great that you’re doing that already. And I think hopefully that as long as you continue that, that you really push patients forward into knowing exactly what to do, across countries and to be a standardized process.
We’ve already touched on the available medicines and ones in development. Now just talking about the patient advocacy group themselves. How can future drug development and supply chain incorporate patient advocacy groups moving forwards to benefit the future of patient treatment options?
Juliette Vila Sinclair-Spence 31.46
Patient advocacy is very important, as it is us who are going through this rare disease. We are not just a number; we are people, suffering from this excruciating and debilitating eye rare disease. So, it's us who can explain better what we're feeling, needing and what is not working, as well as how to prevent it.
It's time to give the patient a voice and power and not leave the last word on the medical professionals. Let us, as patient advocates, work together with drug development, supply chain, contact lens manufacturers and medical professionals to define the best possible approach when it comes to diagnosis, treatment, care and education to prevent the journey.
Finally, we believe that prevention is always better than trying to cure the disease. Awareness and better understanding of disease caused by contact lens are needed to prevent this disease.
Guy Lacey 32.48
Yes, you're right. Unlike some other diseases where you might be born with a defect or something like this, AK can be prevented before with better education and marketing from the contact lens manufacturers.
Juliette Vila Sinclair-Spence 33.05
Yes and we also need to take into consideration that 90% are contact lens users and 10% are non-contact lens users. So those that don't wear eye contact lenses, if they have a trauma in the eye, which they don't know, they cannot prevent it. But sometimes as I go into panic mode when someone says, ‘I got something in my eye, like a little stone and I just washed it my eye with water’. I say, ‘Oh no. Why do companies and people carry saline to clean your eye, if there's something in your eye.’ That is because for what we experience, normal people won't know about it. Use your contact lenses. Do the do’s and don’ts. Get your eyes checked and remember contact lenses and water don't mix. That's the main thing. So maybe we are seeing from the contact lens manufacturer of someone that’s trying to decrease the sales. But we're not trying to stop people from using contact lens. We're trying to educate them. So, as we say, happy journey, happy eyes. I mean that's what we want happy eyes.
Guy Lacey 34.22
It makes sense. It's a simple education and it seems like everyone should know this, but they just don't.
Thank you very much for joining us today. Very interesting conversation on AK. I look forward to seeing what the future holds in this area. Thank you very much, Juliette for your time and from everyone at FIECON we’d like to thank you.
And listeners, thank you for listening. Look forward to the next one. Thank you.
Juliette Vila Sinclair-Spence 32.48