The Beginning of the Story
A Reader Story for Rare Disease Day, February 28, 2010
Editor’s note: As you read this story, see if you can guess what is wrong with this child. The path to diagnosis of any rare disease is often filled with twists and turns. The challenge for all physicians is to look at the clues, listen to the patient’s story, and figure out where to go. It’s not easy. And it’s up to us, the “consumers,” to present as many clues as possible, and to keep asking when the answer doesn’t feel right.
When I was nine years old (about 1960) , I began having trouble with my eyes. I was getting one eye infection after another. More often than not, my eyes were red and felt crusty in the mornings. My vision seemed to be blurry a lot of the time. My parents would take me to the family doctor who prescribed eye drops to stop the infection and ease the irritation each time.
Their theory was that it was all part of a vicious cycle. Supposedly, one eye was infected. It was irritated, so I would rub it, and then touch the other eye, spreading the infection to that eye…..back and forth and back and forth. Naturally, my vision would get blurry because of the infections.
This whole scenario and the resulting diagnosis was (and is) not uncommon for children and often even adults. Let’s face it - we all tend to rub our eyes when it feels like there is something in them or our vision seems momentarily blurry, even though we’ve heard at least a dozen times to keep our hands away from our eyes....and for just this very reason.
The problem was that this whole situation kept going on for months, even though I really was trying to keep from wiping or touching my eyes. That’s not easy when you’re nine! It seemed like my vision was getting worse. The doctor blamed it on a worsening infection and finally sent me to an ophthalmologist.
The ophthalmologist had me read letters on a chart and examined my eyes with a handheld ophthalmoscope. He immediately called my parents in. He said the problem was simply that I had poor vision and needed glasses. Supposedly, I could not see things well and thus would rub at my eyes, causing them to become irritated, and the cycle would start. He said I was typical of most kids my age -- I did not want to wear glasses, and so I was not telling anyone about my vision problem. Well, I knew that was not the case! Fortunately, my parents believed me.
Not knowing where to turn next, my mother asked her optometrist to check me. I remember him being a very friendly doctor, unlike that ophthalmologist, whose gruff demeanor I remember to this day. Her optometrist thought that my left eye did not have a problem. He suspected I had something called Amblyopia affecting my right eye, making the vision poor, thus resulting in my rubbing it a lot and causing those infections I was continually spreading back and forth between my eyes.
Amblyopia is commonly known as lazy eye. It causes reduced vision. The brain, for some reason, does not fully acknowledge the images seen by the amblyopic eye. This almost always affects only one eye but may manifest with reduction of vision in both eyes. He still was not absolutely positive, and decided to try to get an appointment for me at a large teaching and research hospital for a second opinion.
From the start of my family doctor visits, to the gruff ophthalmologist, to the optometrist, and finally to the appointment at the teaching and research center, several months had passed. Meanwhile, the vision in my right eye was decreasing rapidly.
Finally, I found myself in a huge hospital’s ophthalmology clinic with lots of different doctors and medical students looking into my eyes with very bright lights. But nobody could figure out why I was losing my vision in that right eye!
By the end of that long day, I remember crying with my eyes burning from so many people looking in them, all the drops being put in them, and those ungodly bright lights. There were no retinal surgeons in those days, and the equipment they had available was not comparable to what they have today.
One of the last doctors to look in my eyes that day was a visiting physician from another country. He immediately saw the problem in my right eye. There was a tumor in my retina, directly where the optic nerve enters the eye, which was obstructing my vision. He said he had actually seen the exact same thing once in a girl in his homeland. Once he pointed out what he was seeing, everyone else could easily find it. Unfortunately, that was not the only tumor. There were several in the retinas of both of my eyes.
Hospital admission was set up. Those other tumors were treated with photocoagulation (a painful forerunner to the modern lasers.) I’d leave the hospital in a day or two, always looking like I had been in a bad car accident with one side of my face all swollen and black and blue. The ophthalmologist was invited to stay in the United States and joined the hospital’s teaching staff. I had many more photocoagulation treatments in the years to come as he would find new retinal tumors in my yearly exams. He told me the tumors were called hemangiomas.
The optic nerve tumor was more problematic though! With so much time having passed trying to get appointments to begin with, the vision in my right eye was only a blur by then and actually very distracting for a young person wanting to ride a bike and play. A tumor board met and the advice was to cut the optic nerve. Not knowing much about optic nerve tumors in those days, they were concerned the tumor would spread along the optic nerve into the brain. [See note 1} The decision was made, and that is what was done. All went well.
Remarkably, my right eye looked exactly like my good left eye after all was healed. Even though there was no vision at all in the right eye, not even light or dark, the pupil moved exactly in conjunction with the left eye’s pupil. This was something that amazed many ophthalmologists seeing my blind eye for many years to come. However, eventually as the years passed, my blind eye began having other troubles. Besides regularly growing more retinal hemangiomas in both eyes, there were small amounts of fresh blood continually leaking into the retina of the right eye. Soon, they could not see into the retina. A decade later, my right eye developed glaucoma. This caused severe headaches and necessitated a surgery. Years later, the eye itself became painful, resulting in another procedure, an alcohol block, which solved that problem. Over time, and from all the work done on it, the eye began to develop a cataract and also form some large engorged blood vessels, visible on the surface. It now became obvious to anyone who saw me that my eye either had some serious problem or perhaps had been injured.
During those years, I had gotten engaged to the wonderful man who was to become my partner for life. On numerous occasions, I took him with me to the ophthalmologist, who had taken such good care of me all these years, to hear first hand about my health condition… an eye tumor condition he called dual retinal hemangiomatosis. I was concerned that if we decided to have children when we married, they might grow these tumors like I did when I was young. I wanted to take all the necessary precautions to be sure they would not lose any vision, like I did. He assured us it was very unlikely that my children would develop these same tumors. However, I was insistent. Seeing that I was so worried, he agreed to examine them at birth and yearly “until they were older and no longer at risk.” He was a very skilled surgeon and a kind and compassionate man who erroneously believed that these eye tumors only occurred in young people. He thought that if one or two showed up, if treated in time, there would not be the continual progression and reoccurrence of them that I had experienced. There was never any mention of von Hippel-Lindau, or of possible other tumors in other locations. We were never told this condition could be hereditary. Information on VHL was scarce in the medical textbooks and literature in those days. It seemed that everyone thought I was just being a worry-wart.
We married in 1973 and eventually had a little girl. A year later, our son was born. We had traveled a considerable distance to that same hospital for both births so that my ophthalmologist could come over and examine their eyes before they even left the hospital for home. I was told it was not necessary, but the caring ophthalmologist who had saved my vision in my left eye and watched me grow up, agreed to it. We took them yearly for retinal exams and all appeared well. At the ages of 7 and 8, he told us they no longer needed to be examined because if they had not developed any eye tumors by now, they would not. I was not comfortable with that, recalling that I had lost my vision at ten years of age, so he agreed to keep watching them.
One day, my son developed a nasty cold. I took him to his pediatrician, only to find the doctor was out sick himself and a resident was filling in for him. The resident checked out my son and was very curious about my right eye with its poor appearance and large blood vessels on the surface. I explained all I had done over the years. I told her I had “dual retinal hemangiomatosis” and had been having both of my children followed yearly by my ophthalmologist, just in case one of them ever got this. She explained that “dual retinal hemangiomatosis” was not the name of a disorder, but only a description of the kind of tumors I had been growing in my eyes. I had always asked my ophthalmologist to send a letter to each pediatrician my children had over the years, to explain the condition I had and why they were being regularly examined. She looked in the doctor’s files and found my ophthalmologist’s letter. It stated that I was being followed for “dual retinal hemangiomatosis” and had requested my children be watched also, even though their risk was very low.
She told me that she had recently read an article about a rare disorder called von Hippel-Lindau and it sounded very similar to my eye history. She instructed me to call my ophthalmologist and ask him if it could be called that. I was to get back with her and let her know what he said. I did as she suggested. He said “it could be,” but did not seem overly concerned. When I let her know his response, she immediately arranged for me to be seen in a genetics clinic.
I met with a genetic counselor who took a thorough medical history and family history and put together a family tree with all the information I could provide. Next I was seen and examined by a geneticist who had previously looked through all my medical records. They explained their suspicions of von Hippel-Lindau Syndrome (VHL) and a little bit about it. The VHL gene had not yet been identified in those days and DNA testing was not available, so they ordered CT scans of my brain, spine and abdomen. (They did not have MRIs back then.)
I had another appointment when the results came in. They explained that I had VHL. Together they explained all about VHL and its possible implications for my family and me. We were all scheduled for retinal exams immediately. Retinal specialists were fairly new in the eye care field back then. It was in the same teaching hospital, so my ophthalmologist went with me to that first appointment. My children were each examined also, and a hemangioma needing immediate treatment was seen in one of my daughter’s eyes. Because I had already been diagnosed with VHL, this finding was sufficient for a clinical diagnosis of VHL for her. She was ten years old. My son did not develop anything in his retinas until a year later, unfortunately confirming a VHL diagnosis for him also. This was the beginning of our journey with VHL.
With the guidance of the geneticist and genetics counselor, we immediately got a medical team together to care for us, who were familiar with VHL…at least as much as could be in that day and time. They made sure our monitoring was sufficient and current, and interpreted the results for us, sending us to whichever specialist we needed when issues came up. They coordinated our care and still do. They are still keeping us alive and well as we deal with those retinal hemangiomas and all the other VHL issues that typically occur in our family.
We did not have the advantage of an organization like the VHLFA to offer us support and walk us through this step-by-step in those early days. I remember the tremendous feeling of relief and hope when we first learned such an organization had started - and to find out we were not alone dealing with VHL!?! So here it is, nearly 50 years after my original eye tumor diagnosis and my children and I have good doctors, good care coordination and good support. We have just about everything we need….except that cure! The VHLFA is the only patient support and information organization funding research to help us with that. As the late Paul Harvey would say, “ . . .and that’s the rest of the story.”
As printed in the VHL Family Forum 18:1, February 2010. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.
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