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(written in summer 2004)
Svenja's symptoms first started in her right eye in April 2002. The pupil was extremely dialated and at times fixed. With the use of medication, the pupil became flexible. What the opthomologist noticed next was a heterochromy (change in the coloration of the iris) and immediately after that the iridozyclitis in the right eye. With the help of cortisone, this infection (an autoimmune reaction of the body) is being controlled but as soon as the medication is reduced or stopped, the infection reappears.
Suddenly (2003), the right upper lip started to shrink. From an indentation in the middle of the upper lip which formed up to the right corner of the mouth, the lip started to turn to the inside, so it seems. At first this was not noticed by us and we did not connect the two symptoms. At the same time, two or three small darker spots formed on the right jaw joint and we consulted a dermatologist. He obviously had no knowledge of the illness and diagnosed it as "novocutane syndrom". Not having any knowledge of this medical term, we consulted a medical reference book in our home. In translation it means a "new unknown skin change". In this term the doctor explained: "I have never seen this. I have no knowledge of what is going on."
The spots disappeared with time but a new indentation formed in front of the right ear. Later we found out this meant that the tissue atrophied. The jaw joint in the mean time is visible close to the skin.
After this happened, we decided to take Svenja to a children's neurologist. After several examinations, he forwarded his suspicion of the illness via fax to our pediatrician. The pediatrician handed us the fax with the diagnosis - Hemiatrophia facialis progressiva. After that he left the room and left us alone with this fax without any comment. We were very peeved and disappointed by this behavior. The doctor didn't explain anything. Through the internet we obtained the knowledge that the illness was: PRS.
Following this, we consulted another pediatrician in Emden, where we are living, who is also a neurologist for children and has been very compassionate about Svenja. This doctor has some experience and is familiar with the Romberg-Syndrome. He was able to get us a consult with the University Hospital in Muenster and the children's neurologist Professor Kurlemann. Here several examinations were done which could not confirm PRS but it was determined that our daughter most likely had this disease. X-rays showed that bones and teeth were still in perfect condition. A yearly x-ray follow-up was recommended.
After this, we visited the University Muenster for further examinations. Professor Traupe (dermatologist) evaluated all the findings again and commented several times: "This is a very rare disease. We hardly have any experience with it." He recommended a 3 week therapy of penicillin (3 million units 3 times daily by injection). With this treatment we could not jeopardize anything. We were wondering if it makes any sense for our daughter to be subjected to this kind of torture just to pacify us. For this reason we are now trying to get other opinions and experiences.
The ophthalmologist in the interim is following a recommendation from a eye clinic in Hamburg to stop cortisone treatment. Maybe they will also recommend penicillin next. There was no mention of this at the University clinic of Cologne. The clinic had limited knowledge of PRS, we think so.
In addition, we would like to mention that in summer of 2001 we discovered 2 small injuries by her right ear that resembled mosquito bites. It took a long time for those to heal. In the same area the spots mentioned earlier appeared and then the first loss of tissue.
Svenja can be described as a lively child interested in sports. She is very confident and outgoing. She will start school this summer but has learned so much from her older brother that we fear that she may be bored in school. Svenja uses her free time for dance, exercise, and swimming. She also likes to draw and do crafts.
Irene and Markus for Svenja
Update of Svenja's story in April 2007:
Svenja's right upper lip nearly disappeared. The fat tissue at right side of her face, in front of the ear, atrophied, too. The right eye needed cortisone eye drops; 1 drop a day. So the inflammation was kept down. MRT (also know as MRI, Magnetic Resonance Imaging) has been done once a year - without any results.
Prof. Kurlemann saw her once a year. He promised to tell us at once, if there would be a new medication. He never phoned us. We asked for MTX (Methotrexate), but he proclaimed this is cell poison and very dangerous in sight of adverse reactions.
The ophthalmologist had no idea - just giving eye drops - Vexol 1% (Cortisone).
In December 2006 we found the way to Dr. Foeldvari, pediatric rheumatologist in Hamburg. He is very uncomplicated and very familiar with PRS. He has very good medical contacts to the entire world. He took very much time for Svenja and us. No question remained unanswered.
He offered the MTX-therapy and we started it in January 2007. After three injections, we stopped giving eye drops. But the inflammation in her right eye returned and so we had to restart giving eye drops. After injection no. 6, we stopped a second time giving eye drops and: the inflammation didn't return.
What a success. What a new hope. Until today, after injection no. 14, we didn't notice any side effects. Svenja feels very well and her blood is in very good condition.
Why didn't we start the MTX-therapy earlier?
We learned: Never rely on only one doctor's meaning!
Svenja didn't change herself.
We didn't tell her very much about the disease. But whenever she asked, she got a child-oriented answer. Sometimes we found her standing in front of a mirror, watching her changing face with interest, not sadness. Very rare she felt a little unhappy. But she is very strong and perky. Sometimes, when other children made faces to her because of her disease, she was very sad. Whenever this happened, we taught her:
"Smile, little girl. If you smile, you look very charming and then nobody will see the little defect.
But if anybody makes fun at your face you must answer:
'I miss something in my face, but you miss a lot inside your head!'
And then turn around and talk with your good friends."
In the mean time, Svenja knows some more of her disease. She knows about possible surgeries in sight of her upper lip and her cheek. She knows about possible damages of her jaw. But we had never told her she could lose her eyesight - and that was good.
Thank you for reading. We hope, this report is helpful to you to handle your or your child's disease.
Irene and Markus, Svenja's parents
A personal note:
We decided to offer Svenja's story in the German language to help affected individuals or their parents who do not understand the English language. In this way they should find access to the Romberg's Connection and get quick information they could not find in the German language, especially experiences of members of the entire world.
We hope other members in the entire world will publish their own story in English and also in their native language to offer help and information to their non English speaking compatriots.
Our special thanks applies to Marilyn in Iowa, moderator of the Romberg's Connection, for her relentless work and also to Gerri, her loving husband and webmaster of the Romberg's Connection, for taking so much time to our common project and for updating.
Even a hearty thank you to Anne in Colorado for help of translation work and for spending the necessary self-trust to start this project.
Irene and Markus
Feel free to leave a message for Irene and Markus at firstname.lastname@example.org
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