No PXE After All, But Kudos for PXE International
FEBRUARY 6, 2010
*All names have been fictionalized
About one year ago, when my wife Debbie was 64 years old, she noticed little bumps on her skin. She had always been very careful to protect her skin from the sun, so she went straight to the dermatologist. He did a biopsy which returned normal results. Later, during a trip to New York, Debbie was examined by another dermatologist who also had no diagnosis. He thought the bumps could be a result of the hair dye she was using or her shampoo. Several months later, these bumps developed on her left arm
Then Debbie happened to accompany our daughter Brenda one day on a visit to her doctor. Brenda convinced her mom to show her skin to her doctor, who thought it might be PXE. This doctor did two biopsies, and the resulting report indicated her condition was “consistent with PXE.”
We had never heard of pseudoxanthoma elasticum, so about three months ago I started to investigate. I quickly found PXE International through its website, and registered there to receive announcements and be part of the Chat List. I then spoke to Christine Vocke, Director of Education and Information, who was concerned for our situation and quick to respond. I received to-the-point information from her and from the website, which I consider an excellent resource.
One area I read about on the website was the critical issue with the eyes. Debbie has had four laser surgeries to correct her vision, and doesn´t see well at night, so we were very concerned. She visited a retinologist who provided a startling diagnosis: Debbie has no angioid streaks. This was very confusing, since PXE International´s medical bulletins state that angioid streaks are almost always present in those with PXE, whether they eventually develop vision loss or not.
Not knowing what to do with these confusing results, I called Christine. She requested the retinologist´s report and the biopsy slides, which she forwarded to Dr. Lionel Bercovitch, Medical Director for PXE International, for review. Amazingly, Dr. Bercovitch found that Debbie had a different rare dermatological condition that was not PXE. There was nothing to be done for it except keep it under observation.
About half way through this process, I made a donation to PXE International. The organization is doing a good job providing helpful, targeted information, and I wanted to show my appreciation. Being able to print information from the website and present it to my wife´s doctors to educate them about PXE was so important to us. Then when Dr. Bercovitch reviewed Debbie´s medical records, I asked him what the cost of his consultation was. He replied that it was free, that he did it on behalf of PXE International. So I made another donation to PXE International, this time in Dr. Bercovitch´s name to thank him for his selfless work on our behalf.
Even though my wife does not have PXE, I will continue to support PXE International for the fine work it does. The responses I received from it were excellent and immediate. During the process of diagnosis and investigation, it was such a comfort to know that we weren´t alone, and that someone on the other end cared.