PXE Experiences

Eyes

Elspeth Lax - Experience of Central Vision Loss -  Distorted Sight

In January 2011 I was driving to a meeting when all of a sudden my sight became distorted in my right eye, there was no warning, no pain.  As I looked at the car in front of me the number plate seemed to be duplicated, one on top of the other and the letters seemed to look dark in places and lighter in other places.  As  its 27 years that I have been running the PXE Support Group (the first in the world) I have a vast knowledge on the condition and knew immediately that the distorted vision I was experiencing was due to changes to my Central Vision.  I rang the Eye Hospital and spoke to a doctor in Eye Casualty and was seen later that day (Thurs) after having the ususal sight tests I was given an OCT scan which didn't show up any problems ( this is not unusual as can take a day or two before it shows up on the OCT scan but shows up on the fluorescein angiogram immediately). As my Eye Specialist was at another hospital he was contacted and said I was not to worry, he would see me the following week on the Monday.  I went back to the Eye Unit and had the usual sight tests, then had several different drops put in both eyes, this was then followed by an OCT scan which did show a slight change, however when the fluorescein angiogram was taken it was obvious to us straight away what was happening and it was a great learning curve for me having supported so many pxe patients who have been experiencing central vision loss for so long and now it was happening to me so I had knowledge of this first hand.  A couple of days later I was given an injection in my right eye.

Please note:  once you have been given an injection in the eye it is not unusual to see big floaters in that eye.  They can appear to look like circles (one large one and some smaller ones) floating around in the eye (note you cannot see them if you look in the mirror), to me they looked like some balsamic vinegar with some olive oil around the outside of each circle (I know it sounds like I have gone mad but its the easiest way to describe them). As the days go by the circles eventually disappear and can take a day or two to disappear completely again some people say they don't have the floaters, but the ones that do can last for a day or maybe up to 4 or 5 days after the injection is administered.

Don't forget, I have been through this myself so if you want to talk about it so you know exactly what to expect just give me a call on Tel. No. 01628 476687.

GI (Gastroinstinal) Bleeds

Gillian Horrobin, a PXE experience

Since childhood I have had the PXE skin lesions on my lateral neck and folds of arms although I was unaware these lesions were caused by PXE. Until 1990, when at the age of 47 my sight deteriorated almost overnight, I had no further PXE symptoms.

Thanks to the competence of an Army Colonel ophthalmologist (I was accompanying my husband, an MOD civilian, on a Germany posting at this time) my sight problems were quickly diagnosed as being linked to PXE. He referred me to a leading German ophthalmologist in Hannover and also arranged for me to be seen by a Professor Shilling during a Greenwich Hospital Surgery – I understand Professor Shilling has had articles published on PXE. The result was I became registered blind due to the loss of my central vision.

In my subsequent endeavours to find out more about PXE my local (Dorset) Social Services put me in contact with the PXE Support Group and I attended the Conference held on the 4 August 1996 at High Wycombe.

However, enough of my history and onto the experience. On the morning of New Year’s Eve 1996, I awoke, felt faint and suffered the most distressing experience of vomiting blood. After the immediate panic and worry as to what had caused this, I recalled that GI bleeding was a symptom of PXE and immediately contacted Elspeth and Bernard Lax at the PXE Support Group. They were most supportive. Elspeth spoke to my husband John and told him to forget about making a cup of tea for me, you need to call for an ambulance immediately.  The problem being that you never  know how bad a GI bleed is going to be).  Once John had done this Elspeth suggested he should call our GP to let them know what was going on.  As soon as Elspeth knew which hospital Gillian was going to she called A&E to let them know what to expect.

Elspeth and Bernard put me in touch with another member of the group, John Savage, who knew a lot about GI bleeds having had several himself. After visiting my doctor, who gave me a blood test, I was told that if any further attacks were to occur then I was to phone for an ambulance without hesitation.

When I got home I called John and after a long talk with him I felt most reassured as he explained that he had been hospitalised with GI bleeds. Fortunately my blood test revealed no problems with my haemoglobin and after a few days rest at home I was back to normal. As readers will realise, I am indebted to Elspeth, Bernard and John.

The purpose of this tale is not to worry fellow PXE sufferers but to educate them if they are unfortunate to suffer a similar experience to mine – which incidentally I believe to be quite rare even among those of us who have PXE:

i) Link GI Bleeding Symptoms to PXE

ii) Take Action:

  • Obtain immediate medical help, as you do not know what the severity of the bleeding will be.* Call an ambulance
  • If possible get someone to call your GP to let them know what is happening. Get the GP to call the hospital to explain you have PXE or better still take a leaflet on PXE if you have one.
  • Get in touch with the PXE Support Group who will them put you in touch with another PXE sufferer who has been in the same situation. You will then feel reassured which will prove invaluable to you and your family.