Jane's Story

I was born in 1954 in Durban, South Africa and grew up there. When I was about 4 or 5 my parents first spotted a small white spot between my left eye and my ear which began to expand. This mark increased in size and spread down my left side of my face to my lower cheek and the skin turned shiny and light brown and was quite tight. The fatty tissue beneath the skin disappeared. The same thing happened with two round marks on my upper left lip - one about half an inch diameter and the other slightly smaller. Also a round patch about 6 inches in diameter on the left side of my back just below my shoulder blade bone and the skin is very thin with no fatty tissue under it so you can see the blue veins through it!! I also have a mark on my left neck about 2 inches in diameter and a long narrow patch running down in front of my left ear but in these 2 areas the fatty tissue is only slightly destroyed. The bone beneath the affected areas has not grown as much as the right hand side and my teeth are not symmetrical or aligned. My cheek looks as though it has a dent in it! I have never had any pain.

It stopped progressing after a few years and has been dormant ever since. When this began (+-1959) my parents took me to see many doctors in Durban, S.A. and also in England, even in Harley Street in London but no one had any idea of what this condition was or of any treatment. When I was 13 I saw a Dr. Jack Penn, a plastic surgeon, in Johannesburg and had a series of SILICONE injections into my left cheek and the 2 areas on my left lip to try to pad the areas out because of the lack of fatty tissue. This did not work because the damaged skin was tight and therefore the silicone got pushed out to the normal flexible softer skin. My left eyelid and the area between my eye and upper lip became very puffy with the silicone which had moved so I had an operation to try and drain some of this silicone out from the undamaged skin but it was not successful. My mother tried to massage the silicone back under the damaged skin but this had very little effect. The contrast between the puffy areas and the damaged areas with no fatty tissue makes the difference even more noticeable. I look as though the undamaged areas are badly swollen. If I bump my cheek or lip then it is very sore!!! Whether this is the silicone or not I do not know but my eyes water and I have to freeze for a few seconds with pain until it goes away.

In about 1980 I saw a young doctor in Pietermaritzburg (near Durban) and he was the first and only doctor to tell me that it MIGHT be Rombergs (I think he spelt it Rhombergs) but he did not know what caused it or any treatment for it. This was the first time I had heard of Rombergs. Before I left South Africa in about 1982 I spoke to a Dr. Chatz in Johannesburg who suggested a very complicated operation with skin graphs and free-flaps which he had done but when I asked if I could contact his patient who had undergone this operation, he would not let me so I presumed it must have been a failure!!!

Since then I have not seen anyone about it - whenever I have seen doctors in the UK about other things, not one of them has even asked about it - I presume they think it is scar tissue from burns or an accident. A friend who was a radiologist wondered if it may have been caused by anti-natal X-rays which were done back then (in 1954) before ultra-sound scans were invented. The X-rays may have damaged the cells which later grew in this mutant way? Has anyone ever thought of X-ray damage?

I am extremely lucky to not have had any pain or headaches or nerve problems and have been extremely healthy all my life but I do avoid junk food and I eat healthy foods (organic and non-GM) so that may be why.

I do have a concern though, I am in my late 40's and I do know that our eyesight starts to deteriorate at this stage in life but my eye on the Romberg's side is deteriorating at a very much more rapid speed than the other one. I feel this must have something to do with Rombergs otherwise why the huge difference in deterioration?

Friends say that it is only when they first met me that they were aware of my Rombergs but once they get used to my face then they do not really notice it. I am very aware of it because strangers and kids stare. Sometimes they ask me 'What's wrong with your face?'. For any young people out there please keep in mind that when people get to know you then it does not matter. It was very emotionally painful for me in my teens and twenties because looks do count no matter what people try to tell you. Beauty may only be skin deep but that is no consolation to a young person with a deformed face during that period of dating and socialising - it certainly does affect your life. You walk into a room and people do 'double-takes' or just stare. It's hard and it hurts!

I presume that because it is such a rare condition then the need to research it is not that important because it does not affect lots of people. I had never heard of any one else with this condition until I found the 'Romberg's Connection' a few years ago!!! I hope that as more and more people 'surf' the internet and discover the 'Romberg's Connection' then maybe some common situation/environment/happening will reveal itself as the cause of Rombergs. The more case studies we record then the more data doctors have to work on. I understand that doctors can grow human tissue now in a dish so in the future they may be able to take normal cells from us and grow them then graft the cells onto us to replace the damaged skin! They can now do bone graphs onto bone to build up areas! There is hope now with Stem Cell technology which may be able to produce bone and tissue. So I reckon with bone grafts and tissue grafts there is hope for the future! But I guess it is up to us all to keep researching and sharing our information with each other!!! Does anyone know of any study going on or any University student wanting to do a thesis on something - how about Rombergs!!! I hope this tells you all a little about my story and if any of you want to contact me then please do. We are all in this boat together and here to help each other and we will keep rowing as long as it takes to beat this Rombergs!!!!

Love to all of you,
Jane, Milton Keynes, England, UK

Feel free to leave a message for Jane at rombergs@hotmail.com