It started when my older brother Tony was diagnosed with Retinitis Pigmentosa (RP) at age 11. I was 7 then. I started losing my hearing at age 13. The audiologists said the loss would not get any worse and that hearing aids would help. They were wrong about both. By 16, I was profoundly deaf. Hearing aids just distorted sound even more. No one would believe me. They said I was "being a teenager" and didn't want to look different from everyone else.
Finally someone listened to me (and she's still my Audiologist today). I got my first Cochlear Implant (CI) when it was still experimental for children. It was a success. With the visual cues of lip reading and what I heard with my CI, I could understand speech in good listening environments. Still at age 16, I was diagnosed with RP. It was bizarre because Tony's hearing was perfectly normal. They said I had Usher Syndrome, and he had RP. Those diseases aren't carried on the same gene. It made no sense.
He also had issues with cataracts. He had many surgeries and complications, which led to more surgeries.
I was diagnosed with cataracts when I was 23. It would be a few years after that before I had them removed. I didn't have problems like Tony.
Around this time, my family participated in an Usher Syndrome study. We found out that I did not have that disease. So my diagnosis became RP with unknown cause of hearing loss.
I had been living in Ohio with my family. After I graduated from college, I moved to Maryland to be with my boyfriend. We later married and had a child.
I was 28 when my condition got much, much worse. The doctors think it was child birth that set things off. I'm not so sure. I didn't show any symptoms until the baby was six months old. I believe it was just intensive stress that caused the flare-up. I was taking care of a baby with no support from my husband or local in-laws. I went back to work after maternity leave to find a whole new management and was hit by harsh discrimination. I was actually planning on filing a law suit. Also, my husband's abusive behavior was starting to get worse. For the first time, I realized that these "fluke" events were something more serious. The stress was so bad that I wasn't eating well. I lost 25 pounds in one month.
Another weird thing was that my father-in-law was my primary care physician. I don't know how that happened. I went to his office, but always saw a different doctor. When I started getting sick, he took over my case. This turned out to be very bad.
Within a few weeks, I lost all my vision and hearing, couldn't walk or even crawl, had no feeling in my feet, legs or hands and was in constant pain. It was like pins and needles, but it hurt so bad.
My father-in-law first said I had postpartum depression and hysterical blindness. Can you imagine that?
I was living in a state of major medical neglect. It was a month before they took me to the hospital. By this time, people had to print the outline of letters on my face to communicate with me. I was totally trapped in a body screaming with pain.
Georgetown University tested me for a genetic condition called Refsum Disease. The results came back negative. I was diagnosed with Guillain-Barre Syndrome (GBS,) a virus that attacks the nerves. They said I was "lucky" because GBS usually affects the lungs. My breathing was fine. That's because I didn't have GBS. It would be a long time before we knew that, however.
They sent me home, leaving my family to care for me. I couldn't do anything on my own. They had to dress me, bath me, feed me and put me on a potty chair. My 7 month old baby could do more than me. He liked to help take care of me. That part was kind of heartwarming.
When my mother came from Ohio to help, everything was wonderful. When it was my husband's turn, life was a nightmare. The abuse got much worse after my illness. It's like he took all his anger out on me.
Physical therapy helped me regain some strength. My feet are still mostly paralyzed and numb. I can walk, but not well. I wear leg braces and use a forearm crutch.
My hearing returned to what it was like before. I was thankful my CI worked again, but my eyes completely shut down. I could see nothing, not even lights or shapes. Without lip reading, I could no longer understand speech. We continued "print-on-face" for two years.
Over time, the horrible pain lessened some, but it never went away completely. I still have that tingling sensation in my feet. Medication helps control it.
Luckily, my sense of touch returned. I was once again able to care for myself and my son. I began learning tactile fingerspelling. It was a big step up from printing on my face.
Now I know tactile sign language. I still need constant practice to improve my skills.
Like I said, I lived in medical neglect. Four years passed, and my father-in-law did nothing to follow-up on my case. He didn't even treat me for thyroid disease, which was something that came up during the original blood screening. The few things he did was home care -- off the charts and no records.
Finally, it seemed like I was having a relapse. I was weak, fell often and needed to crawl again. My father-in-law sent me to a couple of doctors and also started me on thyroid medication.
The ironic part is that I knew it wasn't a relapse. I had known for 4 months what was going on. I couldn't convince anyone to help me until I finally collapsed.
What was wrong was that I had been bitten by a spider, and it was infected. Once I was treated for that, I began to feel better. My neurologist, however, didn't pay attention to what I had to say. He decided I had a chronic type of GBS and needed serious treatment. He started me on IVIG. This is medicine to help the immune system in patients with Lupus, AIDS and other diseases. Sometimes it helped people with GBS.
The doctor had me on a high dose. The treatments took place once a month, for five days in a row. They were rough and made me very sick. They were also useless, but I wouldn't find out about that for awhile.
It wasn't completely for nothing. During this time period, I learned I couldn't trust or rely on my husband to take care of me or our son. It was an eye-opening kind of discovery. For this reason and more, I got a divorce and moved back to Ohio to live with my family. Despite my disabilities, I won custody of my son. That was the most triumphant moment of my life.
We still believed I had GBS and needed IVIG. In order to continue, I needed an Ohio doctor to prescribe the treatments. My parents took me to the Cleveland Clinic Foundation. They did many nasty, painful tests. The neurologist there also had my records from Maryland. He said there was no way I had GBS and that IVIG would not help my type of nerve damage.
So, now what? I saw different doctors in different departments. It was believed I had some kind of mitochondrial disorder. My case was sent to Dr. Marvin Natowicz, MD/PhD. He's the doctor who gets genetic cases that no one else can figure out. He's an amazing and wonderful doctor. He really cares about his patients and treats them like people. For example, he prefers to be called Marvin.
Dr. Natowicz put me on high levels of energy enhancing supplements. For five years, he ordered scores of DNA testing...Maybe even a hundred. I gave so much blood and urine for testing. They also did a skin biopsy and cloned my cells for special research.
Everything came back negative or normal. In real life, my body was a mess. But I looked perfect on paper.
He would not give up. We did test after test... At every visit, he had new ideas to test for. This area of medical studies is rapidly growing. They make new discoveries every day. Marvin was sure it was only a matter of time. He was right.
In July, 2010, I sat in his office as he told me a test came back positive. I was too shocked to understand at first. After 30 years of bewilderment and searching, we finally got an answer. I have an extremely rare genetic disease called PHARC. Nice name, huh? It stands for Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataracts. I have all those, plus most of the other symptoms of the disease.
Reading about other case studies was like reading my own story. It is amazing to realize there are other people out there like me. Not many... but some. I'm not alone anymore. And now I understand what is wrong with me.
I also have the peace of mind of knowing that my son, who is now 11 years old, does not have my disease. That was always my biggest concern. Now I can concentrate on me.
There is no cure or treatment for PHARC. There's still little research about it. I am hopeful that as more people are identified with the gene mutation, there will be more research and ideas for treatment. I am part of the research studies now. I don't think there's much help for me. But maybe new knowledge will help someone else in the future so they do not go through what I had to endure.
As for Tony, it seems obvious that he had PHARC, too. Sadly, he passed away five years ago, from an unrelated cause. There is no way to test him for the disease.
I still see Dr. Natowicz every six months. He monitors my condition to keep me as strong and stable as possible. He's also continuing research on PHARC. If anyone can help me, it will surely be Marvin.
I say, Don't cry for me. Don't count me out. I’m still living a full life as a mother, student, writer, Community Leader and more. If I want something, I go after it. I'm too stubborn to give in or give up. And, so, life goes on....