Self-Diagnosis of Usher's Syndrome - An Internal Struggle

Around middle school, I had already felt that my vision sharply decreased at night. It wasn't the blurry, hazy feeling of nearsightedness or astigmatism, but rather that after it got dark to a certain degree, objects entirely vanished, leaving only a slight peripheral gleam.

When heading out at night and putting on shoes, because the entryway was relatively dark, I couldn't see the shoes on the floor and always had to grope around to find them. When my parents noticed this phenomenon, they initially just attributed it to my existing nearsightedness and astigmatism, laughing and scolding me that this was the consequence of playing too many video games.

The National Museum of Natural Science in Taichung has a Space Theater. Whenever I had the chance to visit there during elementary school, I would always watch a movie shown at the Space Theater. Every time the movie started, there would be a starry sky tour. That dazzling starry sky projected above lived vividly in the memories of my elementary school childhood, but for some reason, upon visiting again in middle school, that same starry sky only held a few faint gleams of light in my eyes. Out of habit, I blamed it on my nearsightedness and astigmatism, without giving it much thought.

There was a class trip organized by my middle school that included a night excursion. This trip was perhaps the key event that started making me realize my eyes were particularly abnormal at night. While everyone could leisurely walk on the mountain path, opening their hearts to enjoy the sweet mountain mist of the night, I had to rely on the help of my classmates, asking others to hold my hand and lead me as I stumbled along.

Looking back at the bits and pieces of my life later, I couldn't help but sigh. Perhaps I was protected too well by my parents. I rarely went out to walk around at night, wouldn't go out to stroll through night markets or go on night excursions, and the lighting in urban life was generally sufficient—wherever I set foot, there was always a bright light. My life in middle and high school was very simple: studying at school, attending cram school at night, and returning home with basically no energy to overthink anything.

It's not that I never wondered whether my severe inability to see at night was some specific disease. The clues provided by middle school health education and natural sciences all pointed to night blindness, but they only briefly mentioned that the cause was a vitamin A deficiency. Although high school further explained that a lack of vitamin A caused problems when the photoreceptor cells in the retina synthesized photosensitive pigments, leading to visual defects, I still harbored deep doubts. This was because I wasn't a particularly picky eater in my daily diet and hadn't been especially deficient in vitamin A intake.

During a follow-up visit to the ophthalmologist in high school, I gathered my courage and asked the doctor. It was only then that the ophthalmologist used an ophthalmoscope to properly examine my fundus, and then told me and my parents beside me that it was indeed night blindness, but it was caused by a congenital genetic defect, and the only cure would be to wait for gene therapy to be successfully developed. Saying no more, they didn't explain further. Perhaps we should have asked more deeply at that time, but for some reason, we didn't. At that point, our impression of night blindness was limited to a minor flaw akin to nearsightedness, astigmatism, and presbyopia; maybe it would cause slight inconvenience in life, but amidst the fleeting routine of daily life, we just grew accustomed to it.

The period when I truly felt the pain of night blindness was during the liberated life of college. When a small group of friends invited me to the night market or to sing karaoke at night, I always worried about stumbling in unknown, strange places; during orientation camps accompanied by the romance of the night, burning with youth, I couldn't participate in any of the nighttime activities; and even on the way to the celebratory banquet after successfully organizing an event—a sweet reward after hard work—I managed to get into a scooter scraping accident and missed the dinner. Living independently and afraid of causing trouble for others, the inconvenience brought on by night blindness was like a spiderweb in the dark, entangling my daily life.

In my senior year during a pathology lecture, when discussing the renal part of the urinary system, Alport Syndrome was mentioned. The description of its symptoms included eye diseases, hearing loss, and renal proteinuria, which partially matched my own situation. It was then that I first suspected my hearing loss was connected to my night blindness.

Since childhood, the standard answer my family gave me regarding my hearing loss was that it was caused by taking medication. However, as my medical knowledge accumulated, I pressed them about the circumstances back then and found there was no sufficient evidence to support this; it was merely an inference. Because of this argument, I had always believed my poor hearing was acquired, never suspecting genetic causes.

After Alport Syndrome was mentioned in class, I browsed related materials, trying to deduce whether I matched the disease. However, the related topics at the end of the article—Usher Syndrome—caught my eye. I clicked to read it, and a piercing chill that penetrated the truth instantly hit my heart. Trembling, disbelief just settled right there, in front of text that should have been entirely foreign, yet felt so familiar.

Usher Syndrome extract from Wiki: https://en.wikipedia.org/wiki/Usher_syndrome

Patients with this disease typically have Retinitis Pigmentosa, which causes night blindness and a progressive loss of peripheral vision, accompanied by hearing loss, and balance may be affected. The loss of peripheral vision results in tunnel vision for the patient.

The main cause is a genetic defect, making it an autosomal recessive inheritance.

Objectively speaking, no matter how well the description matches, one cannot directly conclude they definitely have the disease based solely on their own manifested symptoms. How to further confirm the diagnosis was the most urgent thought after reading this information. The diagnostic tools for Retinitis Pigmentosa include the use of an ophthalmoscope by a doctor, as well as ordering a visual field test or an electroretinogram (ERG). These appeared to be the most definitive and concrete methods available. But looking back at the information on Usher Syndrome:

Usher syndrome is incurable at present.

A few months later, when recalling the mindset I used to face this at the time, perhaps my subconscious simply suppressed the fact of suffering from an incurable disease—a future where my light might gradually be stolen—tucking it away in a corner and treating it as nothing. Or perhaps, I just wanted to escape, escaping the role of a patient, coldly observing the symptoms, pathology, and disease progression from a doctor's perspective, smugly confirming the symptoms in my daily life while desperately trying to find joy in it. I pretended to look at it rationally and optimistically, when in reality, I didn't want to do anything that could yield progress.

Perhaps it's fortunate that my subsequent actions proved I still retained my rationality. At least, I still knew how to voice my suspicions to my family, and I still knew how to discuss whether to seek medical attention with others and put it into action. Even though I dragged my feet time and again, the obviously narrowed visual field discovered during physical examination practices with fellow medical students, and the retinal pigment deposits confirmed by a professor during ophthalmoscopy practice, failed to drag my heavy heart ashore.

I once made wild claims that my own darkness must be buried by my own hands, meaning that no matter how many setbacks there were in the past, I would definitely overcome them all myself. But this time, I was nearly swallowed by overwhelming darkness.

Why was it that I had managed to overcome the difficulties of hearing loss with such effort, able to live smoothly like a normal person and even achieve a little success, only to be met now with another congenital limitation? The narrowing of my visual field, the inability to see clearly at night—I feared how it would impact my future career as a doctor. Walking home after a night shift, coordinating with the team while passing scalpels and sutures in the operating room, the vastly increased risk of car accidents and mishaps—I was afraid of causing trouble for others. I once read an article discussing the psychology of people with disabilities; those who have been cared for over a long time actually long for independence, do not want to rely on others, and may even dread causing inconvenience to others. And I once buried my head in deep self-loathing, cursing myself for being powerless once again, clearly seeing myself as a weakling once more.

The Process of Seeking Medical Care

The information that I might be suffering from Usher's Syndrome was primarily disclosed by me taking the initiative to inform my parents. I revealed that my hearing loss was likely due to congenital genetic factors rather than the long-suspected drug damage, and that the future impact of the disease on me included visual field deterioration and a chance of going blind. At first, I believe they found it very hard to accept, and there was even a hint of disbelief in their attitude (perhaps because this would bring a sense of guilt that the child's defect was the parents' responsibility?). Additionally, my father mentioned that the narrowing of the visual field could also be caused by congenital glaucoma, and indeed, there were relatives on my paternal family side who went blind in their old age due to high intraocular pressure from glaucoma. Finally, we agreed to seek consultation at National Cheng Kung University (NCKU) Hospital in March.

As mentioned earlier, after seeking consultation at the ophthalmology department of NCKU Hospital, my intraocular pressure and vision were measured. Once in the consultation room, the doctor first scheduled a visual field test and used an ophthalmoscope. This confirmed that my visual field was narrower than a typical person's, at only about thirty degrees, and that there were pigment deposits visible under the ophthalmoscope, firmly establishing the presence of retinitis pigmentosa. Regarding the familial glaucoma, my intraocular pressure did not exceed the upper limit, only approached it. Therefore, the doctor informed me and my older sister, who accompanied me to the consultation, that there was currently no treatment for the retinitis pigmentosa part, and that we could only maintain and monitor it as much as possible to prevent it from worsening. As for the potentially high intraocular pressure, he would prescribe Prostaglandin-class medication to lower the intraocular pressure and act as a long-term prescription to protect the optic nerve. To be honest, I felt this eye drop had absolutely no relationship with retinitis pigmentosa, serving perhaps merely as a placebo. But for some reason, my parents viewed these eye drops as extremely important, insisting I had to follow the doctor's orders and administer them every night. Watching me put in the eye drops, they found me incredibly clumsy and even did it themselves to ensure the eye drops thoroughly soaked the eye. Conversely, the retinitis pigmentosa aspect didn't feel very accepted. In my parents' attitude, I vaguely sensed an air of evasion, denial, and panic.

After the official diagnosis at NCKU Hospital in March 2015, my parents hoped to find a good doctor elsewhere to get a second checkup. My older brother and sister both offered suggestions: one was a renowned local glaucoma specialist in my hometown of Tainan, and the other was Dr. Lin Keng-Hung at Taichung Veterans General Hospital. However, due to academic commitments, I postponed both until summer vacation. During this time, because of insurance processing, I had to return for a follow-up early, paying out of pocket to have the doctor issue a medical certificate; later, the insurance coverage scope outright excluded both my ears and eyes.

I thought this type of disease required genetic testing for confirmation, but the term Usher's Syndrome seems to primarily describe symptoms such as retinitis pigmentosa and hearing loss caused by multiple types of genetic defects; as long as it's hereditary and the symptoms match, it can be diagnosed. The ophthalmologist at the time didn't verbally confirm it, but because he left NCKU Hospital in July, the next doctor who took over my case stated outright that it was Usher's Syndrome. I also asked the genetic testing department at NCKU Hospital, and the answer I got was that testing could be done out-of-pocket, but it would be better done through a doctor's consultation and referral. I figure this kind of application is mainly for pediatricians to assess future development and arrange follow-up care after discovering an infant has corresponding symptoms.

In early August 2015 during summer vacation, I traveled north from Tainan to Taichung to consult Dr. Lin Keng-Hung at Taichung Veterans General Hospital. We scheduled an ERG (electroretinogram) there. My older brother, who accompanied me, also asked how we should cope and requested the doctor connect us with the Retinitis Pigmentosa Association. The doctor privately recommended lutein and antioxidants, and promised to set us up with the chairman. To be honest, traveling all the way to Taichung didn't yield much more medical information than I received in Tainan. During my own research on Usher's Syndrome, I had pretty much learned all there was to know about the disease. Making this special trip, aside from satisfying my parents and seeking a final confirmation to convince them, was also because Dr. Lin Keng-Hung was one of the directors of the Taiwan Retinitis Pigmentosa Association and had relevant research papers. My sister also hoped to see if there was any latest research news from abroad through this channel. The reports for the electroretinogram and visual field tests came out, but after assessing the results, the doctor offered us an unexpected suggestion: apply for a severe disability card.

Running Around Fighting for Rights

I originally held a mild disability card due to hearing loss in both ears. But from reading the reports, Dr. Lin assessed that my visual field loss had already met the criteria for visual impairment in the current disability evaluation system, meaning I could apply to the government for the card.

However, perhaps because it coincided with the transition of the government's disability counseling system, the administrative process was chaotic. At first, the doctor explained things clearly: go to the district office to pick up the application forms and related documents, then come back to have the doctor issue the medical certificate. As it turned out, when we went to the district office, they said we needed the doctor's medical certificate first before starting the application process, and told us to go back to the doctor. In the end, it was only after my older brother made phone calls everywhere to inquire that the district office finally gave us the application forms.

What followed was a continuous series of hospital visits to register and get certificates... I will summarize the process I went through in Tainan and at NCKU Hospital:

1. Pick up the disability evaluation application form at the district office.
2. Register at the hospital; the doctor will issue a slip asking you to go to a separate disability evaluation clinic.
3. The disability evaluation clinic will ask related questions (this is the new system's process for assessing the social needs of people with disabilities).
4. The hospital will forward the medical certificate and documents to the relevant government units for processing.

However, the above is my personal experience. For the current disability needs evaluation, you can refer to the government's explanation page, which details the required documents and processes much more clearly.

Note:

If the disability category is not registered in the government database and this is the first application, the diagnosing doctor apparently must issue a medical certificate. It was only when we were submitting documents after the disability evaluation clinic assessment that we realized the doctor hadn't issued one, making for a very awkward moment where we had to register again to ask the doctor to write it.

Government processing for issuing a disability card takes at least about a month. Because I applied in mid-August 2015, I almost missed the deadline to apply for the tuition and fee reduction subsidy before school started, but that's another story.

Because I have both hearing loss and a visual field defect, I fall into the multiple disabilities category of physical and mental disabilities, specifically classified within the severe range. In September 2015, I received my disability card, which clearly annotates this.

Below I list the related subsidies and benefits I've encountered in daily life due to this card:

1. Tuition and fee reductions.
2. Disability scholarships at various schools.
3. Transportation subsidies within the special education system (for those with commuting difficulties, subject to committee review).
4. Comprehensive income tax deduction for physical and mental disabilities.
5. Basic copayments at medical institutions and health insurance are all charged at the clinic level rate.

Finally, I've compiled resources related to Usher's Syndrome. This will be updated irregularly, in hopes of helping fellow patients or doctors and researchers interested in this disease.

1. Usher's Syndrome Organization
2. Taiwan Retinitis Pigmentosa Association
3. Usher's Syndrome Wiki Page
4. NIH Genetics Base