Chapter 3: The Day After Normal
Saturday morning came like an unwelcome dinner guest. Pearl was groggy and grumpy with thoughts of her impending visit with Dr. Holt. Grandma had just brought into the kitchen a dozen freshly glazed doughnuts from Krispy Kreme and was telling Pearl to enjoy them while they were still warm.
Pearl loved Krispy Kreme doughnuts, and she knew this was Grandma’s way of letting Pearl know she was thinking of her. Even still, Pearl had no appetite. She had to force herself to eat one, so she would not hurt Grandma’s feelings.
Pearl went back to her room to get dressed. “What do I wear on the day I find out my whole world might change?” Pearl asked herself. She decided upon a turquoise knit shirt, faded jeans, and her favorite pair of navy flip-flops. No, this was not a wonderfully nice outfit; however, Pearl reasoned that she should be as comfortable as possible during this most uncomfortable appointment.
The turquoise shirt made Pearl’s light blue eyes sparkle. Because of a sudden growth spurt during this last school year, most of Pearl’s jeans had turned into capris. Pearl did not seem to mind too much as she was not your typical materialistic teenager. Pearl enjoyed rummaging through garage sales, vintage stores, and even Goodwill for fun to find unusually hip pieces of clothing. She hardly wore jewelry, except for a silver cross necklace her father gave her on her tenth birthday.
Pearl had her mother’s natural beauty, even her freckles, and reddish hair. She was already almost as tall as her mom, and she had not finished growing yet. Pearl did not have her mom’s petite frame. Rather, she took after her father’s athletic build. Her waist was small, but her legs were thick and muscular, making it difficult for Pearl to find a flattering pair of pants.
Pearl gathered her long hair into a French twist and fastened it with a few bobby pins. She let a few side strands of hair fall freely around her cheekbones. Looking at her reflection in the mirror, Pearl thought how fortunate she was to be considered pretty. She did not suffer from the annoyance of acne or the discomfort of braces like many of her former classmates. Instead, Pearl looked perfectly normal: perfectly almost perfect…almost.
“Let’s go! I’ll be in the car!” Susan yelled walking out the garage door.
Pearl stared at her reflection once more. Thoughts settled in her mind; she knew she would never look at herself the same way again. This was the last image of herself before she became labeled by some doctor with big credentials.
“Now!” Susan shouted.
Pearl leaned over and kissed her reflection in the mirror. Her pink lip gloss made a flawless shape of her lips on the mirror. “Bye,” she told herself as if she was saying goodbye to an old friend.
Dr. Holt greeted Susan and Pearl outside the lobby door near the elevators. “The doors are locked on Saturday,” Dr. Holt remarked as Susan and Pearl stepped off the elevator. “I’ll have to open the doors for you. I decided just to wait since I just got here myself,” he said fumbling through a set of keys searching for the right one to unlock the doors.
Dr. Holt was holding a large coffee cup in one hand and was trying to jiggle the key in the lock at the same time. Susan reached over and took his coffee from him, so that he could open the doors more easily.
“Thanks, Ms. Winters,” Dr. Holt said.
“Just call me Susan,” she replied. Susan was surprised by the words she spoke. She was not an overly outgoing person, especially to handsome men.
“Great. Thanks, Susan,” Dr. Holt said as he held open the door and took his coffee from Susan.
While Pearl sank into the cold chair across from Dr. Holt’s desk, Susan took a tentative step into his office. She did not realize until now how nervous she was for her daughter. Here everything would be told, and she had to be strong for Pearl.
“Please, Susan, take a seat next to Pearl,” Dr. Holt said as he motioned to an empty chair. Dr. Holt’s office was very plain. Pearl scanned the room for photographs of his family, but there were none. Several motivational posters were displayed in matching black frames, but nothing more adorned the walls. A large fake tree stood in the right corner behind his desk, and a coat rack stood in the opposite corner. His office smelled of hand sanitation gel.
Dr. Holt settled into his black desk chair. He had Pearl’s test results laid out in front of him with handwritten notes jotted on the sides of each page. “I have not typed a formal diagnosis report yet. I will have that mailed to you in the next several weeks for your file. The report itself will look like Greek; however, the bottom line diagnosis is that Pearl has retinitis pigmentosa.”
“What? What is retin… pigmen…?” Susan asked.
“Retinitis pigmentosa is a degenerative disease that affects the rods and cones at the back of the eye. To oversimplify, the rods are necessary for night vision, and the cones are necessary for day vision. Pearl’s ERG shows that her rods have started to shut down; therefore, she is having difficulty seeing in situations where there is low light. For example, in the movie theatre, a dark restaurant, places like that. Pearl’s rods have degenerated to the point that her peripheral vision is restricted. This is often referred to as “tunnel vision.” Think of a camera. Your eye is the camera, and the retina is the film. Pearl’s film is starting to degenerate around the edges of her pictures. Let me show you what I mean,” Dr. Holt continued as he walked to where Pearl was sitting.
“Pearl, tell me when you can no longer see my pen.” Dr. Holt took out a writing pen from his front shirt pocket. He stood directly in front of Pearl and slowly moved his pen to the right until Pearl said, “Now. I can’t see it now.”
Dr. Holt then did the same thing to Susan. Susan could see the pen for a much longer time than Pearl. “Now, Pearl, look directly ahead of you. Without moving your eyes, can you see your mom sitting beside you?”
“No,” Pearl said.
Susan was in shock. “How long have you been like this, Pearl? What on earth were you thinking keeping this from me? I could have helped you a long time ago!”
Pearl remained quiet. She was not accustomed to her mom yelling at her, especially in front of someone else. Her mom was normally more controlled than this, and Pearl became embarrassed.
Susan could not figure out if she were angry at Pearl or angry that Pearl had a vision problem. In truth, it was a combination of both. Susan had no idea what to do except to sit still and listen as Dr. Holt continued with his explanation of Pearl’s condition.
“Susan, I know this is not easy to hear. Let me finish going over the results with you, and we can discuss any questions you have, okay?”
“Sure. Thank you, doctor,” Susan replied with hot cheeks and adrenaline pumping through her veins.
“You can just call me Todd,” Dr. Holt replied with a soft smile.
“Thanks, Todd,” Susan said with a light smile that calmed her racing heart.
“Pearl is still inside the normal limits for color vision and central vision. She does, however, show signs of high sensitivity to bright light. For example, on sunny days Pearl needs to be wearing sunglasses to protect her eyes. She also is starting to have depth perception issues. This means things appear closer than they really are to Pearl, or vice-versa. On the upside, Pearl reads relatively well. This means Pearl’s cones are functioning at a higher rate than her rods.”
“What does all this mean to Pearl? How do we fix it? What can we do? Is there any surgery we can do?” Susan asked.
“I’ll be honest with you; there is no cure for retinitis pigmentosa at this time. I truly believe there will be one day, but that day has not yet arrived. There is a typical journey a patient takes with retinitis pigmentosa, or more simply referred to as RP. Most of the time we see patients with RP demonstrate the classic symptom of night-blindness before the age of 16. Most of these patients will go on to be legally blind by the time they are 30.”
“This has got to be some kind of joke. We live in the United States of America. The smartest minds and the most money are right here in our country! We can cure all kinds of diseases, and no one has found a cure for this? No one? Are you serious?” Susan shouted.
Pearl remained motionless. She felt like she had left her body and was listening to Dr. Holt speak about some other kid. It did not seem real - this moment, his words. Nothing. Nothing seemed normal.
“I know this is hard to wrap your mind around. You need to know that not every RP patient follows the same path. The digression of sight with RP patients is not set in stone. Patients vary in the amount of sight they lose and the rate at which that sight is lost. I think Pearl has a good chance of retaining a very small amount of her central vision into late adulthood,” Dr. Holt replied while glancing at Pearl.
“What caused this, Dr. Holt, or, I mean…Todd? Did she get exposed to some poison or is it something that happened to her in the womb?” Susan asked grasping for answers.
“It is an inherited disease. I know Pearl’s paperwork shows that no one in your family has vision problems; nevertheless, someone way down the line either had RP or either you or your husband are carriers of RP. Regardless, RP is not caused by toxins, injury, or anything of the like,” Dr. Holt replied in a way that made Susan believe this was not the first time he had said these words.
“I don’t know what to say. I had never heard of RP until this morning,” Susan replied. “No one on my side of the family even wears glasses. My husband died two years ago, and his parents have already passed. I have no idea where this disease could have come from,” Susan said shaking her head in disbelief.
“What’s going to happen to me, doctor?” Pearl’s voice startled Susan and Dr. Holt. Deep in their conversation, they had almost forgotten Pearl was in the room.
“Well, several things need to happen. Since we do not know how quickly your sight will continue to digress, we need to get you hooked up with a good support group, discuss schooling options, and provide you with low vision devices that might make you more mobile down the road. Pearl, if you would like to go to the kitchen and get a snack and drink, feel free. I would like to talk to your mom in private for a little while.”
“Sure,” Pearl said as she got up and made her way out of Dr. Holt’s office.
Susan and Dr. Holt talked for almost an hour about Pearl’s vision, next steps, and what to expect in the future. Waiting for her mom, Pearl rested on the couch in the lobby. All she could think about was that little boy making his way around the room with his walking stick. She found out today that the stick visually impaired people use is called a white cane. Pearl dozed off imagining herself trying to walk in darkness.
“Pearl, baby, it’s time to go,” Susan whispered while touching her daughter’s arm.
Susan looked as tired as Pearl felt. Her eyes were puffy from crying, and her hands were full of pamphlets and literature Dr. Holt had given her to read.
“Remember, I will follow up with you early next week to see how I can be of further assistance,” Dr. Holt told Susan.
“Thanks again, Todd, for everything,” Susan said as she and Pearl entered the elevator to go home.
Susan’s head was spinning. She felt as if the words from Dr. Holt were building like a huge wave, trying to force its way into the elevator. When the elevator doors shut, she sighed in relief. A moment’s pause from thinking. A moment to just breathe. A moment to hug her daughter in silence…and she did all three.