One Woman's Journey
When I had my first bleed in Feb 2004 I thought for SURE that I would be legally blind by Feb 2006, maybe sooner. I was CERTAIN of it... I felt doomed. Then I "got a grip"! Read JoAnn's journey.
A tongue-twisting and perplexing diagnosis. If you are reading this article, you or someone you love has been diagnosed with PXE. Your reaction probably depended on how the diagnosis was made and the type of information you received.
What follows are interviews with seven people who have had that trying experience, from the perspectives of self, parent and spouse. These are their stories, describing how they reacted and came to terms with PXE, the progression of the condition and their advice to people who have just found out they must live with the disorder.
Amy remembers first noticing lesions on her neck when she was 10 years old. The lesions were very small. Amy thought they were dirt particles that were ground into her skin, and she tried to wash them away. She eventually noticed that the lesions had been spreading slowly for about nine years. When she was 19, she mentioned something about them to her doctor during a routine appointment. He concluded that they were a fungal infection and prescribed some athletes foot cream. When this had no effect, Amy returned to her doctor. He did not recognize the lesions as anything he had seen before. He consulted with other doctors in the building. After examining Amy, they did not know what to make of her neck. She was referred to a dermatologist. He was condescending and misinformed. He told Amy she may have a disease but he was not too sure. He offered to show her some pictures of older people with PXE, but as he did the biopsy, he rescinded saying that he did not want to show her the pictures because he did not want to scare her. He asked, "You know about making babies, right? Well you probably will not be able to do that. Oh and you may have trouble with some kind of internal hemorrhaging later on. I don't really know...I'm just a dermatologist. All I really know is how it affects your skin.
Amy was crushed. She just barely held it together until she was out of his office. She spent some time with close friends, and went to her family's house to tell them the story. They were furious with the doctor's treatment of her. They did not believe his diagnosis would turn out to be correct. He was correct about the diagnosis, but his understanding of PXE was not complete. Almost all of the information he gave was false. Amy has learned so much about PXE since then. With the help and support of her family and friends, she is now more familiar with the disorder than most doctors.
At 23 Amy has peau d'orange in her eyes and lesions on her neck, underarms and groin. She has tried alternative healing methods to prolong the onset of new PXE symptoms, but does not know if they have made a difference. Amy has a contagiously positive attitude. She believes that people who experience PXE should help spread information about the disorder. Amy believes that being diagnosed with PXE is not the end of the world. "Continue with your life," she says. "PXE should not place limitations on your life. All it means is that you will have a new and perhaps more interesting perspective on life than you ever had before."
Jan's first symptom was the pain in her legs she experienced while making the rounds in the nursing home where she worked. She visited eight different doctors and still had no idea what was wrong. One doctor suggested that it was psychosomatic. A co-worker suggested she be tested for MS. An astute doctor at the University of Connecticut determined it was not MS, and recognized what she did have. He immediately sent her to see an ophthalmologist, dermatologist and genetic counselor. They all came to the same diagnosis - pseudoxanthoma elasticum. Jan left the clinic content. She may have a genetic disorder for which there was no cure but she was not crazy!
Jan understood that PXE affected the connective tissue in her body and caused its inability to retain its elasticity thereby causing her leg pain. She looked up PXE in a copy of Principles of Internal Medicine and although there was very little information, she was stunned to read that many patients have a normal life span. She became frightened and resolved to learn as much as she could about the disorder. When she moved to upstate New York, she met another patient with PXE who became her support. She began working with NAPE. She began seeing doctors in Manhattan and gained more information about the condition and related issues. She maintained a positive attitude and was grateful that PXE was her problem and not something worse like cancer. Her friends and immediate family were a great support, but her parents denied there was a problem.
Jan is adamant in stating that although she has several health issues (coronary artery disease, diabetes, peripheral neuropathy and is legally blind) she does not blame all of her conditions on PXE. Central vision loss may be attributed to PXE; the others may or may not. She has met the challenges presented by PXE one at a time. She admits that facing all of the possible complications can be overwhelming and may cause her to feel sorry for herself. Her faith in God and His divine aid helps her stay focused. When she became legally blind she had to adjust her career and became an administrative assistant for a geriatric crisis unit. She feels her experiences have made her more patient and compassionate with her clients.
Nancy noticed the lesions on the inside of her elbows many years before she experienced other symptoms. In May of 1985, she suddenly had a blank spot in the vision of her right eye. After two visits to an ophthalmologist, she was referred to a retina specialist and laser surgery was immediately performed. She learned that she had angioid streaks in both eyes but still did not know the cause. Two weeks later, she was seen by a dermatologist for insect bites and mentioned the vision problems she was having. He examined her, conducted a biopsy and reported that she had a rare disease - pseudoxanthoma elasticum.
The dermatologist was vague when pressed for further information. He mentioned cardiovascular problems. Nancy's husband called the dermatologist and requested more information. The doctor provided more information and suggested that Nancy visit a cardiologist and her primary care physician. He said it could be very serious and reluctantly admitted it could result in a shorter life span. Naturally, they were very upset.
Nancy became very concerned about her vision because she was having problems adjusting to the loss of central vision in her right eye. She sought additional information in medical books because her primary care physician and cardiologist knew nothing about PXE. Nancy remembers being very upset by the diagnosis and crying. Her friends and family provided support. Her husband was her main support. Eventually she adjusted to using the central vision in her left eye, but seven years later she began losing that. Again, many tears. She had to give up her job because she could no longer drive. Her skin lesions have gotten worse and she experiences intermittent claudication in her legs for which she takes Trental. Her vision continues to decrease and she tires easily.
The symptoms of PXE first came to be apparent to Wendy in her late teenage years. She chose to wear turtlenecks to cover up what she perceived to be ugly skin. Although she was under the care of a dermatologist for several years, she did not know she had PXE. Diagnosis came when she visited a new eye doctor who noticed something unusual and sent her to a specialist to confirm the diagnosis. The cause of the streaks in her eyes was explained, but she was told not to worry because if she ever experienced a bleed, laser surgery would take care of her problems. Her understanding of the condition was vague and therefore she had little cause for concern. She put faith in the doctor's statement regarding laser treatment.
With the help of her two brothers, who were also experiencing symptoms of PXE, she began to see a more complete picture of the disorder. Her reaction was to warn other family members with ugly skin to watch out for their eyes. Wendy felt that vision loss seemed to be the most important symptom. Through further research, she and her brothers pieced together a clearer understanding of the overall picture. Wendy's practical reaction to the diagnosis helped her handle it well. She reasoned that everyone experiences challenges in life and her challenge is PXE. With the support of her two brothers, she managed to maintain a positive outlook.
As the symptoms progressed, her fortitude and refusal to let circumstances rule her life have strengthened her character. Although she was declared legally blind ten years ago, she continues to work every day. She chose to move from Rhode Island to Massachusetts to regain her driver's license. Her doctors are amazed at her abilities and she describes her progress as great. Wendy was denied radiation treatment for breast cancer because of her physician's lack of knowledge about PXE. Rather than giving up, Wendy resolved to educate her physicians and ultimately overcame the initial challenge. Wendy received her treatment and fared better than most people. Wendy's advice is to avoid the doom and gloom trap. It is important to understand that not all people with PXE have all the symptoms. Take care of yourself and find a good primary care physician who is willing to listen and learn about PXE in order to guide you in the right direction.
Donna first noticed what appeared to be a heat rash on her daughter Julie's neck when she was nine. It was a hot summer, so her mother did not think too much of it. When it failed to go away, Donna took her to a dermatologist. The dermatologist recognized the symptoms of PXE, and took Donna into the hall. He explained that the prognosis was poor and her daughter would not live a long life. He did a biopsy that day. Donna was devastated. She and her husband spent a tense 24 hours believing their daughter would not live past 20. They were shocked, afraid and sad.
Donna got on the internet to learn more. Slowly she realized that people do not die from PXE. As she turned to others for support, she found little comfort in statements such as at least it is not cancer. Julie is her daughter. Donna found it hard to accept that there was anything wrong with her. She got in touch with a group from Harvard. They put her in touch with Sharon Terry from PXE. Sharon helped her see the reality of PXE and Donna was comforted.
The greatest challenge that presented itself was the doctor's lack of accurate information about PXE. As a mother, Donna began to seek ways she could help control the progression of the symptoms. She found a host of advice on the subject. She was advised that Julie should not run for fear of causing an aneurysm. This meant no sports for soccer-loving Julie. This turned out to be contrary to the recommendation to stay fit to protect and strengthen the heart muscle. She learned that Julie could play soccer with the aide of sports goggles to protect her eyes.
Julie's symptoms have shown a slow progression. She has a few streaks in her eyes but none in her central vision. Donna is adamant in her belief that parents of young children with PXE must believe that their children will lead full lives. A good attitude is critical. Donna does not focus on Julie's symptoms, nor does she try to document the skin on Julie's neck with photographs for fear that it may cause her to be self conscious about it. Treatments are advancing and there is hope that children with PXE may never have to experience vision loss.
Gordon and his wife noticed the first symptoms of PXE - as most people do - with what appeared to be a rash on their daughter Amy's neck. They took Amy to the physician and he prescribed an anti-fungal cream. The rash did not change. Amy began modeling in her teens. She came home in tears after a runway session because the makeup artist got upset with her when the makeup would not adhere to her neck. Again the family tried some creams, but again there was no change. They were told not to worry about it.
When Amy was 17, she finally saw a dermatologist. He thought he recognized the symptoms but wanted to do a biopsy to be sure. He told Amy she had PXE and described the worst case scenario. The family was stunned, shocked and distraught. Their initial understanding led them to believe that Amy would have heart problems, intestinal problems and would go blind. The family turned to the internet for more information. They found PXE International. They called Sharon Terry immediately and she was able to return their call later the same evening. She listened to their grief and was able to talk them down by giving a more up to date and accurate picture of PXE.
Amy has peau d'orange and some skin involvement on her neck, underarms and groin. Her eyes have not changed but her skin is slightly worse. Amy has adjusted to PXE. Since her symptoms have been relatively benign, she has not had many negative experiences. Gordon advises to have an intelligent conversation with someone who knows about PXE. This may not be a doctor. If you are affected, you must be able to recognize different symptoms and adjust your activities accordingly. It may be natural to blame every symptom on PXE, so it is important to weigh opinion against research and logic. Live your life fully.
The first symptoms Elmer's wife, Nancy, had with PXE were angioid streaks. They had no idea of the cause until a knowledgeable dermatologist presented the diagnosis of PXE. Elmer was angry that so little information about the condition was provided. He remembers that Nancy herself found most of the information regarding the condition. He states that a real understanding of the disease came through PXE International.
At first, Nancy and Elmer turned to one another for support. They found that others did not understand. It was not until they attended a PXE meeting in NYC that they found support by finally making contact with other PXE people. He feels that the knowledge that there were others trying to cope with the disease made things easier for Nancy. Nancy and Elmer decided not to take the diagnosis of the disease too seriously. They intended to live their lives as they always had, within the bounds of the limitations imposed by her visual disability. He says that other than Nancy having to give up the privilege of driving, it is hard to notice that she's dealing with PXE. She needs help judging distance on the golf course, but still is an excellent cross-country skier.
Elmer suggests that people with PXE and their families should live life to the fullest. Avoid looking around corners for a PXE bogeyman. It will waste a lot of time that could be used to enjoy all that life has to offer.