Maria's Story

I first noticed Rombergs (of course, it was a while before I knew that it was even called Rombergs) when I was 13-years-old (I will be 50 this coming October). The first thing I noticed was a slight darkening just above my lip (on the left side), and some white spots in the same area but inside my mouth. My mother and I became somewhat alarmed since we had no idea what this could be. I went to a doctor in a Dermatology clinic, and of course they had no idea what it was either. I remember this doctor wanting other doctors to look at me but more because of the uniqueness of it than for anything else because no one offered any suggestions as to what it could be other than it could have been a delayed birthmark.

The next thing I noticed was the darkening under my left eye, then some varying discoloration on my cheek, followed by the darkening on my forehead and then the indentation (coupe de sabre). It was so long ago that I'm not really sure how much time elapsed in between each occurrence. I do remember in the beginning my jaw locking and how painful it was. I guess it was the spasms some people experience. I don't have those anymore. They were short in duration but boy did leave my jaw sore! I also remember not having feeling or taste on the left side of my tongue. I made the mistake of telling one of the many doctors I'd already seen and him wanting to test it by puncturing my tongue with a hypodermic needle to see how I would react. It did not hurt, but it sure bled a lot. I guess he was convinced!

As time passed, the thinning of the cheek was becoming more and more noticeable and my eye had already begun to look sunken. By this time, I'd had many X-rays, tests, photographs taken, and answered lots and lots of questions. I had a test done where they were trying to measure if I had any strength in the muscles in that area. The test consisted of them placing some needles in my face and then asking me to flex my eye and cheek so they could see how it measured. I got really tired of all these tests and the prodding with no clue as to what it could be that I stopped going to see anymore doctors.

It wasn't until I had my second baby that I met a doctor at Thomas Jefferson Hospital in Philadelphia, who actually knew the name of this condition. He even showed me a book with pictures of some people who had been diagnosed with Rombergs. It was amazing to me. Some of the people had really advanced cases of Rombergs; some of them had total side involvement, that is, it was not just localized to the face, but their arm and leg where also involved. At the time, I felt fortunate that I did not look like the people in those pictures. But my Rombergs was still active and eventually my face did look like theirs.

Dr. Castillo suggested several options for repairing some of the damage. He said he could implant some silicone, but he didn't know how much help that would be. He also mentioned silastic but he was not sure about that either. He just couldn't guarantee the results of anything he did. He suggested a procedure whereby the would make some sort of contraption that would make skin from my stomach to my face through the arm. That involved me having the metal "thing" attached to me with my arm somewhere in there trapped for about 6 months, if I remember correctly. I told him, with two children, one of them a baby, that there was no way I wanted to do that. At the time, although there was obviously something different about me, I was not self-conscious enough to want to try any of the things he suggested. He did refer me to a neurologist to ascertain that there was no involvement with the brain that might cause some other problems. There was none, but the neurologist suggested that I try to see a doctor every 2 or 3 years to make sure that things were still O.K.

I followed that advise, although there was never anything new to learn whenever I did see a doctor; just more tests and inquiries. I was never prescribed any medication but I always wound up with either X-rays or CAT scans being done. I'm sure many, if not all of those with Rombergs can't ever go to a doctor for anything without being asked about the Rombergs. Usually I'm asked if I had an accident, or if I had been burned, etc. When I tell them it's Rombergs, most times they have not even heard of it. Of course, they always want to know more, so they say they're going to go home and look it up. When dealing with non-medical people, sometimes I just tell them it's a birthmark. Usually, that satisfies their curiosity. If I feel they want a little more explanation, I will explain a little about what Rombergs is.

As the years passed, I could see how much my face had atrophied. I noticed that the side of my neck was also getting discolored and I had small indentations. To date, that has been the extent of the visible characteristics of Rombergs. Of course, you never know what else is going to happen. I have suffered with migraines, but when we were stationed in Puerto Rico, the doctor at our clinic suggested I take Elavil (25 mg) every night, and that has helped. Since starting on Elavil, I can say that since 1982, I may have had about eight migraines.

When we were assigned to Wright-Patterson Air Force Base in 1985, I went in for my usual periodic checkup. The doctor that saw me got all excited about seeing me, a person with Rombergs. Dr. Kolb told me she knew a doctor stationed in Lackland Air Force Base Medical Center in Texas who had performed surgery on at least two people with Rombergs. Now mind you, I did not go to see Dr. Kolb with any kind of surgery in mind. Dr. Kolb told me she wanted Dr. Cooper to take a look at me and perhaps consider me as a candidate for surgery. I told her fine, because I thought that with the long list they had, I probably would not be seen for at least a year.

Was I surprised when a month later my husband and I were on our way to Texas to go see Dr. Robert Cooper (which by the way, he has a private practice in Seattle, Washington)! He saw me and explained that he was familiar with Rombergs and that he had in fact, had two patients on whom he'd performed reconstructive surgery. He even had the molds of their faces. He asked me if I was interested in reconstructive surgery and I agreed to have the procedure done. He explained that he would be doing a scapular flap from my back to my face, where he would build up the cheek and part of the indentation of the coupe de sabre. He said the area in my back just below the shoulder was the best part because this type of tissue acted pretty close to what the facial tissue would be. If I lost weight, I would lose weight or if I gained weight, it would also gain weight. In other words, it would keep up with whatever changes my body might undergo.

He explained that there would some microsurgery to connect some of the arteries around my temple area, but he thought the surgery was not going to be complicated. However, this surgery did take 15 hours. I was in intensive care for a couple of days and then in a regular room for another 5 days before going home. I was away from home for about 3 weeks. I asked my husband to stay home with the kids and just come down to Texas when it was close to going home. We would be traveling via an aero-evac flight and I didn't want to be on my own for that. For those of you not familiar with this kind of flying, an aero-evac flight has a mission (training). When you fly on an aero-evac you have to go wherever their mission is going, so if your stop is one of the last ones, you will be on that plane for most of the day. After the surgery, I had a cheek about the size of softball. The doctor said it was overstuffed and that in time it would go down. I would say it took about a year until it looked almost normal, but even today, that area is usually red, and still a little puffy. I don't like to wear makeup but when I've worn some concealer and make up, it is disguised quite well.

As a result of this surgery, though, I've had three procedures done on my left eye. The first one was a graft from the left upper eyelid to the bottom lid. This was done because the tissue inserted in my cheek became too heavy and was making the eye droop and dry out and could have caused some damage. This surgery was done about 8 months after the re-constructive surgery. I did not have anything else done until 1994. My eye had become quite irritated and when I went to the ophthalmologist he said that I had little scabs in my cornea. He was concerned that some corneal damage might occur so I went to see a specialist. This doctor said I would need another graft. This one was a little more complicated than the first one. He needed to rebuild the lower eyelid because my eye was continually exposed; even while sleeping, it never was fully closed. He used tissue from my shin area and built up the inside of the lower lid, and then he grafted tissue from my right top lid to the left outside bottom lid. That helped some, but the cornea was still being exposed so he actually went back and fused the corner of the eye to close the eye some more. That also has helped; however I still have irritation in this eye. I guess this will be the case always. The doctor also thought it added some symmetry to eyes. The left eye appeared to be about the same size as the right one. I do not have as much peripheral vision out of the left eye, but I manage.

I'm not sure if my Rombergs is still active. Sometimes I think I see some progression around the area around my neck that was not there before, but it's nothing major. One of the things I've become interested in finding out is if there could be some involvement in other areas that one may not associate with Rombergs. I have had back problems for a long time. I had problems with my sciatic nerve, I have some arthritis in my hip, and I have some herniated disks. The L-5, particularly. I went to have it repaired since I was tired of the physical therapy I was subject to whenever I had a flare-up. In the course of the examination, the doctor noticed that the T-10 was herniated (I had not been diagnosed with having problems in this area) and it had calcified and was compressing the spinal cord. I had surgery for the T-10 because the doctor said I could become suddenly paralyzed without any warning. He thought he could operate on the T-10 first and then a couple of days later, operate on the L-5. There were complications with the first surgery so the second one was not done. Needless to say, I still have problems with my back. The complication I had was unexpected. After the surgery, I could not walk and the doctor did not know why. He thought that since the spinal cord had been compressed for so long, that when it was released it may have had a stroke, but that was more of guess than anything else. I am getting along just fine, back at work, driving, etc. I don't know if there's some kind of Rombergs involvement with my back. I never thought to ask before. As long as I can get around and do for myself, I'll be happy.

I have been writing my story for a while. I still don't have a computer at home, so during lunch at work I have been trying to write it. If anyone wants to chat about my experiences with Rombergs I would be more than happy to. I have tried to include as many pertinent facts regarding my Rombergs. There may be some things I've forgotten. It wasn't until reading some of the stories that I remembered when I had the episodes with the jaw locking. So, there very well may be other things. If I remember, I will definitely include additional information.

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