I took a pass on keeping the regular follow-up visit with my retinal specialist in April. I said to myself (and anyone else who would listen), there’s no sense keeping the appointment for my rare eye disease because I was not going to accept the recommended treatment. You see, my left eye is afflicted with a progressive, most likely auto-inflammatory process, known as chorioretinitis. It is slowly getting worse.
Immunosuppression is the treatment of choice for my rare eye disease
According to my specialist at Stanford, the next step in my care is big-time immunosuppression with IV methylprednisolone (a steroid) plus IV cyclophosphamide (a chemotherapeutic and immunosuppressive drug). This scared me.
I felt like being immunosuppressed in the middle of the COVID-19 pandemic would be suicide. I also told anyone who would listen, “I would rather be blind than dead.” But the truth is I prefer neither.
Remember, we didn’t know much about the virus at that time except that it was very infectious. And, it makes some people (older folks and those with chronic medical conditions) very, very sick. Some die. And from what I was reading at the time, it is a pretty horrible way to exit this earth.
Making a leap
By June, it looked like the pandemic was slowing down in Northern California. So when my next appointment popped up on my calendar, I decided I would go. This was a big leap for me as I only rarely left the house at that time.
I was nervous, of course, going to a medical setting where people could possibly be exposed to the virus and transmit it. But, I had one N95 mask that one of my sons, a nurse, gave me at the start of the pandemic. (This was way before we knew anything about shortages of these types of masks.)
My husband drove me from Marin County where we live to the Byers Eye Institute, a part of Stanford Healthcare.
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The COVID-19 precautions at Byers
The COVID-19 precautions at Byers seemed well thought out. They made everyone enter the building through a single entrance that was guarded by a man with hand-sanitizer and a box of masks. We had to line up six feet apart and enter one-by-one.
We were required to put their mask over the N95s we were already wearing. Our temperature was checked just inside the door. And, only I could enter the patient care area. My husband was relegated to the outer waiting area.
I had to get the usual panel of advanced eye-imaging studies. But I relaxed when I saw that the tech was double-masked and was wearing a face shield. Gradually, I grew confident that Byers was doing everything they should be doing to keep us safe from getting COVID in their clinic.
Difficult choices after the bad news
By the time I got the bad news that my eye disease had indeed progressed, I was able to rationally think about my choices. We initially thought that the inflammation of my eye was due to taking alendronate (Fosamax) for osteoporosis. This is because the timing of me starting the drug and developing the disease was highly suggestive that it could have been the trigger.
It was made more likely because I had tested negative for every known cause of the condition. That made me something you never want to be: an interesting case. I am even the subject of a detailed case study in the Journal of Ophthalmology.
Now, the problem is that the only way to know for sure that the drug was the culprit would be to take it again and see what happens to the disease. This, of course, would be a foolish thing to do.
There was one other option for my rare eye disease
But there was one other course of action that could be taken before subjecting myself to immunosuppression therapy, however. That was to take a sample of my vitreous (the jelly-like substance in front of the retina that gives the eye its shape) and analyze it for rare or unusual infectious organisms that are not currently known to cause a condition such as mine.
This didn’t seem far-fetched to me as I have traveled in the developing world for years. I once fell in the mud in the jungles of Peru. Who knows what I was exposed to over the years.
Therefore having some sort of exotic infection was not, in my mind, out of the question. Further, I hoped it would be the case as then we would 1) know the cause and 2) be able to take a treatment targeted specifically to that cause.
That’s where Aperiomics comes in
Aperiomics is a laboratory that specializes in identifying pathogens in various body fluids. They have developed a database of every known, sequenced bacteria, virus, fungus, and parasite in the world.
Then, using something called “deep shotgun metagenomic sequencing”, an advanced technology that can find even small amounts of genetic material in the sample. Using sophisticated algorithms, the sequences of that genetic material is then matched to the database. This can lead to the identification of the causal organism in many cases that had previously gone undiagnosed.
I had interviewed Crystal Icenhour, the founder and CEO about a half a year ago. So I gave her a call to see if this testing could be done in a vitreous sample. They had not done this before but she said she believed it was possible.
I put my ophthalmologist in touch with her so the specimen collection and transfer could be done properly. I wasn’t going to leave this to chance.
Other stories by the same author: COVID-19: The Impact of Our Early Failure to Respond
Surgery – the least bad choice
So, I opted for surgery, a procedure known as a diagnostic vitrectomy. Yes, they remove all or almost all of the vitreous. The surgeon assured me, however, that the body would replace the missing gel with aqueous humor – the liquid in the front part of the eye. He said it wasn’t a risky surgery and, in fact, it only takes about a half-hour to perform.
I arrived at Byers a little nervous but confident I made the right decision. If Aperiomics found some weird infection, that would be a good thing. It could be treated and I would be done with my rare disease.
Again, Byers’s attention to detail with respect to the virus made me feel comfortable. If I am going to get COVID eventually, it was not going to be because of my eye surgery.
My outpatient surgery experience
I was escorted into the outpatient surgery center and, once again, my husband was relegated to an outside waiting room.
Many different nurses worked on getting me ready for surgery. All were fully PPE’d up.
The nurse anesthetist explained that I was not going to be asleep for the operation. Rather, they were going to use drugs to put me into a twilight state.
And, indeed, I could hear everything that was going on during the surgery, but I pretty much didn’t care. It was pretty strange. I heard the surgeon and his assistant say that I needed to have laser treatment to firm up a weak spot in my retina. I didn’t care about that either.
Later, I could hear my surgeon telling pathology that he was going to take care of mailing the vitreous sample to Aperiomics. I did care about that. After all, why let someone remove your vitreous and then mess up by not ensuring that it arrives at the lab in good shape.
After-effects: the air bubble
The morning after surgery, I noticed a big bubble with a black rim floating around in my eye. The vision was ok if I positioned my head in a way that allowed the bubble to float out of the field of vision. I also had a huge pupil because I was prescribed dilating drops.
My follow-up visit was uneventful. The surgeon assured me the bubble would be resorbed in time – and it was.
The white of my eye was deep red from pooling of blood below the conjunctiva (the outer lining of the eyeball). I had seen subconjunctival hemorrhages many times when I worked as an emergency physician. So this did not alarm me.
My eye stayed dilated for almost 11 days after I stopped the atropine. But, just like the doctor said, it eventually returned to normal.
And the results show?
Lab tests that had been sent to the Stanford lab started rolling in shortly after the surgery. Everything was negative.
Aperiomics, the outside lab, kept me in the loop on the status of processing my precious specimen. I thought it was a nice touch:
- We got it
- We’re running the tests
- We are analyzing the results
- And, finally, the results have been sent to your doctor.
In the end, almost everything was negative: no parasites, no fungi, no viruses. There were small amounts of bacteria, but they likely were contaminants. The report did point out that several of them, however, were known to cause disease in some circumstances. So, I didn’t get the definitive answer I was hoping for.
Obviously, I was disappointed. As I said, I had hoped for a treatable infection even though the ophthalmologist kept telling me an infection was very unlikely because of my clinical course. And, because I never had cells or other signs of infection on my detailed and meticulous eye exams.
So, what to do now for this pesky rare eye disease?
One of the choices, the dreaded combo of intravenous (IV) cyclophosphamide (a drug used as chemotherapy and to suppress the immune system) and IV methylprednisolone (a steroid) was still on the table. But this time, new options were offered:
- Triple therapy with azothioprine, cyclosporine, and prednisone
- Flucloronide implant into the left eye
And finally, the doctor suggested trying a course of antibiotics (Septra DS) telling me that sometimes it works in cases like mine. Of course, I opted for that fully aware that I am rolling the dice as the relentless disease keeps on killing off my retinal cells. Luckily, the growth of the inflammatory process is heading away from the macula, the most important area of the eye with respect to vision.
So, did I make the right decision?
So far, so good.
As you know, in the months after my surgery, the COVID virus went wild again scaring the bejesus out of folks like me worried about having a high risk of a bad outcome. So not being on immunosuppressants right now seems like a good thing. My doctor, however, assured me that other patients are taking those drugs right now and doing just fine.
I will have been on the antibiotics for about a month by the time I go to Byers again. My vision is stable (as always) and I feel great.
I am hoping against hope that we will find that the Septra will miraculously stop the process in its track. If not, this time I may have to bite the bullet and go for the big guns. Fingers crossed.
The bottom line for me and my rare eye disease
The bottom line for me is that I was able to actively participate in the decision-making for my eyes. Obviously, I am not a chorioretinitis specialist but I have one of those after all.
I am, however, a specialist in myself. I knew that I had to do everything possible to avoid immunosuppression in the age of COVID. If I end up having to get the dreaded drugs now, at least I know that I did everything within my power to avoid it when I felt it was too big a risk for me.
For me, it was the right plan of action and that is what patient-centered centered care is all about.
Patricia Salber, MD, MBA
Patricia Salber, MD, MBA is the Founder. CEO, and Editor-in-Chief of The Doctor Weighs In (TDWI). Founded in 2005 as a single-author blog, it has evolved into a multi-authored, multi-media health information site with a global audience. She has worked hard to ensure that TDWI is a trusted resource for health information on a wide variety of health topics. Moreover, Dr. Salber is widely acknowledged as an important contributor to the health information space, including having been honored by LinkedIn as one of ten Top Voices in Healthcare in both 2017 and 2018.
Dr. Salber has a long list of peer-reviewed publications as well as publications in trade and popular press. She has published two books, the latest being “Connected Health: Improving Care, Safety, and Efficiency with Wearables and IoT solutions. She has hosted podcasts and video interviews with many well-known healthcare experts and innovators. Spreading the word about health and healthcare innovation is her passion.
She attended the University of California Berkeley for her undergraduate and graduate studies and UC San Francisco for medical school, internal medicine residency, and endocrine fellowship. She also completed a Pew Fellowship in Health Policy at the affiliated Institute for Health Policy Studies. She earned an MBA with a health focus at the University of California Irvine.
She joined Kaiser Permanente (KP)where she practiced emergency medicine as a board-certified internist and emergency physician before moving into administration. She served as the first Physician Director for National Accounts at the Permanente Federation. And, also served as the lead on a dedicated Kaiser Permanente-General Motors team to help GM with its managed care strategy. GM was the largest private purchaser of healthcare in the world at that time. After leaving KP, she worked as a physician executive in a number of health plans, including serving as EVP and Chief Medical Officer at Universal American.
She consults and/or advises a wide variety of organizations including digital start-ups such as CliniOps, My Safety Nest, and Doctor Base (acquired). She currently consults with Duty First Consulting as well as Faegre, Drinker, Biddle, and Reath, LLP.
Pat serves on the Board of Trustees of MedShare, a global humanitarian organization. She chairs the organization’s Development Committee and she also chairs MedShare's Western Regional Council.
Dr. Salber is married and lives with her husband and dog in beautiful Marin County in California. She has three grown children and two granddaughters with whom she loves to travel.
Greetings Mrs. Salber,
I was diagnosed with choreoretinitis on the 23rd of December 2020. I am 24 years old male and i do not have any pre-existent health issues. I got tested for various diseases (i.e. toxoplasmosis, toxocara, bartonella, lupus, chlamydia, HIV, syphilis, CMV etc) and absolutely nothing came through. The status of my chorioretinitis is stable at the moment, taking its toll on a tiny bit of my left eye macula.
Is there anything more you suggest looking for? Any advice would be much appreciated.
Hi Andrei, unfortunately, many times the underlying cause of chorioretinitis is not known. I even underwent a vitrectomy to send the tissue to a special lab that measures the RNA or DNA of every known bacteria, virus, and parasite – nothing showed up. I know from personal experience how hard it is to have something like this and not know why.
Equally frustrating are the somewhat limited treatment options. That being said, it is important that you are seeing a uveitis specialist knowledgeable and experienced with the disease and that they try to come up with a diagnosis of the type of chorioretinitis hat you have – different types have different prognoses and sometimes different treatments. There are places like the NIH that offer dx/rx for chorioretinities but I am not sure of the process to go there – you probably need a physician referral.
No matter what else you do, be sure to have close follow-up with adequate diagnostic testing (retinal images and testing). You want to know if the disease is progressing – particularly because your disease is affecting the macula – so more aggressive treatment can be considered.
To be clear, I am writing this as a fellow patient, not as a doctor. I am not an ophthalmologist and have no clinical expertise in the disease. Also, we do not give medical advice on this site. I mainly have my personal experience and info from many hours reading about the disease via internet searches.
Stay in touch. Perhaps we can start a conversation here that engages others dealing with chorioretinitis. It is always great to learn from each other.
Great story, and your son the nurse sounds AWESOME! Let me know if you need more N95’s!
Thanks, Gili, yes please.
Thanks, Dr Salber for you sharing your story. I guess it makes you an expert in your research on the retina and vitreous issues. Would you know why the retina detaches in some people without notice and what can you do to prevent it.
Actually, it makes me an expert in having a retinal disease. Here is a good link from the Mayo Clinic to read about what causes retinal detachments: https://www.mayoclinic.org/diseases-conditions/retinal-detachment/symptoms-causes/syc-20351344
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