Andy Cremer shares his PXE story for Rare Disease Day 2014

 

This article first appeared at http://www.rarediseaseday.org/stories/106.
This article was published in the March 11, 2014 eNewsletter.


My ophthalmologist first noticed ‘an unusual appearance’ on my retinas back in 1994 and referred me to the local hospital for a more in-depth check where I was told I had angioid streaks in both eyes. At that time I heard mention of a number of possible causes, including the rare genetic connective tissue disorder Pseudoxanthoma Elasticum (PXE), but was assured I didn’t have this and that the streaks existed in isolation. I was advised not to do any contact sports that could give me a blow to the head, and to avoid heavy lifting. Reassured, I continued as normal.

Some years later in 2006 we were referred to the Kennedy Galton Genetics clinic in London due to an issue with my daughter. I was fortunate enough to see Professor Mike Pope (an expert in PXE) who, on hearing about my angioid streaks, did some checks and diagnosed me with the disease. My world fell apart in an instant: All I had ever heard were the stories of PXE sufferers going blind (in fact peripheral vision is spared), losing legs due to the arteries calcifying and suffering great pain. I subsequently contacted the UK support group (www.pxe.org.uk), who reassured me that the disease progresses in different ways in different people and that the ‘doomsday scenario’ I believed would happen might not in my case. My sister was also later diagnosed with the disease, so our parents must have been carriers, though as they were both dead we couldn’t have any genetic tests.

I have since relied heavily on the US organisation PXE International (www.PXE.org) and use their Facebook page to communicate with affected individuals across the world. It’s a really supportive community and to have access to people who truly understand what it feels like to have this rare disease, who can recount their own experiences and offer comfort and support, is invaluable. I thank them for their kindness and support.

So how does it affect me? Primarily I find the main problem is in finding doctors who know much about PXE. My ophthalmologist knows about the effects on the eye and I am regularly monitored, which is great. I get cramps on walking (intermittent claudication) as the arteries in my legs are now pretty much calcified, but I walk regularly to maintain my circulation. I also have to avoid aspirin and non-steroidal anti-inflammatory medication as they may heighten the risk of a gastric bleed.

Luckily I was able to refer my vascular surgeon to PXE International in the US and they were able to offer him excellent advice on the management of the condition. My GP too has committed to learning more about the disease and now has a fair knowledge of it. It is always difficult to determine whether any symptoms or other problems I have had are related to my PXE and I have found many clinicians who have never heard of the disease, or who only vaguely remember it from their training, which I always find scary. Recently I could have hugged the doctor who said they had seen a PXE patient only the week before and was able to converse knowledgeably about the condition!

The ongoing management of my PXE is largely around ‘good practice’ that any man in their forties should do anyway; don’t smoke, eat a balanced low fat diet and take exercise. There is however the very real chance that I could have a retinal bleed, or indeed a gastric bleed, or that my peripheral circulation becomes worse. I have to take medication for my high blood pressure, largely caused due to the arteries calcifying and I have two-yearly echo-cardiograms to make sure my heart valves are not calcifying. Science advances all the time, and there are now injections that can help with the retinal bleeds. One day, science may find a ‘cure’ for PXE: Too late for me but of great benefit to future generations.

I generally feel lucky that my PXE was discovered so that I can manage it, but having a rare disease is tremendously isolating at times, which is why I am supporting Rare Disease Day.