Disclaimer: Please be advised that everyone's experiences may be different and appropriate treatments may vary. Any medical information that you find on The Romberg's Connection website must NOT serve as a substitute for consultation with one's personal physicians. Our visitors should discuss any specific questions or concerns they may have about Rombergs with health care professionals who are familiar with the specifics of their special case.
As a support group, The Romberg's Connection is unable to offer medical advice to anyone. However, we are presently working on a listing of doctors with Rombergs experience.

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4 Hearts

Michelle's Story

May 2004

My name is Kathy. My daughter Michelle has Romberg disease.

It was a high-risk pregnancy with her, so the delivery was very difficult. After the first week a bright red bump showed up on her forehead. At her 6-week check up, we showed the bump to her doctor. She explained to my husband and I that the bump was called an Angioma, a small harmless bunch of raised blood vessels. At first we were told that it should disappear before she was two, so we just stopped worrying about it because it wasn't hurting her.

About a year later, we noticed some discoloration on the right side of her cheek, the same side as the Angioma. By the time 18 months had come around, we noticed that the discoloration had gotten bigger and spread. We took her in at her 18 month check up and also had the doctor look at the discoloration. This was in 1992. We didn't know what was happening and she didn't know what to make of it either, so she decided that she would refer us to a specialist up at OHSU hospital in downtown Portland.

She had just turned two when we went to see the specialist to find out what was going on. It was really kind of funny, because he wasn't sure either. He called in five other doctors and some interns. The exam room was crowded. Nobody could tell us what it was. Dr. Wheatley told us that we would do some studying on this and have us come back in for another evaluation in two weeks. Dr. Wheatley managed to find out through the Rare Diseases web site and some digging, that Michelle had contracted a disease called Parry Rombergs disease. As he put it, the disease eats up fatty tissue and anything that is connected to it, such as nerves and blood vessels. And can cause deformity of the skull if the host is young, like a baby or toddler. He had another specialist, Tuan A. Nguyen M.D., come in to help him on this case.

They both have been working on her case. They both said there are very few people with this disease. At that time we were told 45 people, and Michelle was the youngest diagnosed in the world, but now I know that wasn't completely true. It is a rare disease, but there were more than 45 people and she probably wasn't the youngest. Anyway, Dr. Wheatley told us that he would have some tests done to make sure nothing else was being affected by the disease.

We were referred to a cranial facial clinic where they did a CAT scan on her skull checking for abnormalities. We and the doctors found out through the CAT scan that the right side of Michelle's skull was being affected, but the damaged couldn't be determined until the disease burned itself out. At the time we didn't know how long that would take. (I'm confused about the time frame, so bare with me here.) She was seven when the disease finally died out. But we were having regular visits with the doctors and being referred to other specialists for speech, sight, motor skills and anything else they deemed necessary.

From the time she was diagnosed until the time the disease burned itself out, was six years. I think that's right. Anyway, just before she turned eight, she went in for a pre-op visit to prepare for the surgery. We realized that the disease had burned itself out because we noticed that it hadn't spread any more after we had been watching it for six months. The disease stopped just below the forehead and about the middle of her jaw. It had destroyed all of the tissue in her right cheek near her nose and to her ear. And destroyed all the tissue clear to her jaw and the beginning of her neck. The right side of her skull, instead of being round, was sunk clear up to her eye socket causing it to put pressure on her retina and nerves. And, because she was so young, the disease kept her skull from growing and forming the way it was supposed to. When the disease was done, her right side had receded and her right eye and jaw were out of alignment, she had a depression in her cheek.

She had her surgery June 1999. She was in the hospital five days. They took fatty tissue, nerves and blood vessels from her back and put it in her cheek. We all crossed our fingers and hoped it would catch. She had her surgery at Emmanuel Hospital in N.E. Portland. The surgery took 7-3/4 hrs. She was severely black and blue afterwards for 2 days.

Since then she's had liposuction to round out her cheek a little and will go through more liposuction to round it out more.

She's been diagnosed with a learning disability, sight impairment - 20/70 in the right eye and 20/40 in the left. She has trouble with spelling and some motor skill impairment. The Angioma is almost gone now though. It started fading away after the disease died. The red can barely be seen and the bump has receded considerably.

She has four other sisters, but she was the only one who got it. Michelle is very high-spirited. She's going through counseling to deal with the anxiety that the disease has caused. She's treated just like her sisters in everything. The disease hasn't really bothered her much. She's very sensitive and gets highly agitated when she runs into a problem, especially one she can't figure out on her own. She is doing well in school though, considering everything she's been through. Her sisters have been added support. They are three years apart in age. The oldest, Angela 22, Katherine or Katie as we call her 19, Jennifer 16, Michelle 13, and Laura 10. They will all have their birthdays before the next school year. Katie is married and lives in England with her husband, but she still manages to be there for Michelle when she can.

I'm just thankful that she doesn't have anything else that would complicate her recovery. I don't know if the disease would have been able to die out as fast as it did.

Thank you for letting me share my story with you, and hope to hear from some of you.


P.S. I forgot to mention that Michelle will have a jaw re-alignment done when she reaches 16 or 17. They will break the jaw on the right side and possibly graph new bone in where it should have grown in the first place. Then wire it in place so the graph will take. This is supposed to be a long procedure and will take some time to heal, but I'm eager for that day when we can straighten her jaw.

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

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