June 12, 1999

Hello from Melbourne, Australia. My name is Marita and my daughter Jennifer has Parry Rombergs. Jenny is now 21 years of age. I also have 2 younger daughters - Caroline is 20 and Anna is 15. They are both very healthy. I will start from the beginning because Jenny was diagnosed with Rombergs at quite a young age, and perhaps knowing all the detail will help somebody, somewhere, some day.

However, first a word from Jenny. She wrote this in an email to Theresa in May of 1999:
"For me - my life has not been negatively affected by visual signs of Rombergs. Reading the personal stories made me realise how lucky I was to have been so aware and informed for the whole of my disease. I was never in doubt and I think that made a difference. I was never teased or made to feel odd. In fact I have only ever had one person make a mean remark and that is a great thing. I honestly believe that I was blessed to have been able to explain what was wrong with me to anyone who was curious. I feel for those who couldn't during their years of growing up. On the other hand, the side affects of the disease have been rather terrible. My headaches and the symptoms that have come with them have been horrible and I have had so many health problems as a result. Overall I would never wish to have lived my life without the disease. It has made me more aware and not to take things for granted. It really does not bother me that my face is a little different and I mean that honestly I spend more time worrying about silly things like how much weight I have put on, or a pimple I might have, than a nose that is a little oddly shaped or that my eyes look different."

November 20, 1977

Her birth was traumatic - she was 9 lbs 5 oz and a difficult forceps delivery. She was so beautiful even with her bilateral cepahalhaematoma (like a Mickey Mouse hat) and terrible facial bruising. Jenny was born with a significant head tilt (torticollis) and plagiocephaly (odd shaped skull). This persisted until she was almost 4 years old when surgery was required.

1981, almost 4 years old

Jennifer first operation was to divide the muscle in her neck to correct the torticolllis. (I have always wondered if this surgery triggered the Rombergs). We were told to expect some facial asymetry after this operation, so for the next 3-4 years, when people asked us about her face, we cheerily told them it was a result of surgery and would eventually settle down. How wrong we were!! The photo below was taken of Jenny just after this operation on her neck. There is a spot of VITILAGO (white area) on the upper right cheek. As you can see she has a perfectly symetrical chubby little face.

1986, aged 8 years

At a routine dental checkup, our dentist was amazed that Jenny had a normal "bite" on the left but not so on the right side. After consulting an oral surgeon our dentist referred Jenny to the Cranio Facial clinic at the Royal Children's Hospital here in Melbourne, Australia. Just 10 days later, Jenny was examined by a team of specialists (craniofacial surgeon, oral surgeon, orthodontist, neuro surgeon, social worker, the registrar and resident, a couple of "fellows" from other countries who were studying cranio-facial disorders, and a secretary who organised future appointments) WOW !!! Needless to say, Jenny & I were just a tad overwhelmed as no one had prepared us adequately for such an event. The actual diagnosis took a mere 10-15 minutes (maybe less). All the doctors came and examined Jenny's face, and then looked at all her photos. Dr. Holmes was the head of the unit and he told me that Jenny appeared to have a MILD case of Romberg's hemi facial atrophy. I only heard the word atrophy and I knew what that meant! (I am a registered nurse) He wrote the diagnosis on a scrap of paper. I couldn't speak. The photo below shows Jenny at the time of her diagnosis.

Fortunately Dr. Holmes had been involved in research at the Children's Hospital in Boston, USA and was able to reassure us that if there were (40) children with this condition, Jenny would be no 38 in the line up (mild end). I have never forgotten that number 38 and over the years, that has been very reassuring. Despite being told not to go looking in medical books, I was at the University medical library the next day. We didn't find much at all. Looking back, if the Romberg's Connection had been available, it would have been so reassuring and so less lonely. That is why I am writing this story. So life went on! Every 6 months we saw Dr. Holmes and he examined her face, took photos, and talked to Jenny about all aspects of her life. This continued for 3 years. Meanwhile Jenny remained a very happy and positive little girl, with lots of friends and activities to keep her busy. At times she was anxious, but she seemed to accept Rombergs as nothing to get upset about. Despite her crooked eyes, she looked fairly normal. Her fringe hid the coup de sabre, and she had very lovely blonde hair. The photo tells the story:

However this was a very difficult time for me. The difficult part was not knowing what would happen in the future and today that is still the most difficult thing. Friends and family were terrific, especially Jenny's Godparents who have been exceptionally caring and supportive, but I needed more. As I was a Maternal & Child Health Nurse, with my own clinic, I decided to start a group for Mums with children with all types of facial problems. This group "Special Faces" met every 3 months for about 4 years,at my health centre, and was undoubtedly a life saver for me. Most of the children were pre-school age and had birth marks, cleft lips and/or palates or craniostenosis. There were only about 8 families ever involved and we have lost touch now, but I would recommend this as an option as no one else can understand the worry and disappointments as much as another mother. A common talking point was how most Dads "seemed" to cope better and were not keen to talk as much as the Mums wanted and needed to talk.

1987, aged 9 years

Jenny developed severe swelling on the right side of her face similar to mumps (she had been immunised). The local doctors tried antibiotics and other drugs but she was getting sicker. Eventually she was admitted to an infectious diseases hospital for investigation. It was so exciting when Professor Newton-John arrived and made a diagnosis of herpes simplex immediately, making all the other doctors around the bed feel very inadequate!. We were pleased to have a diagnosis but we were really excited because he was Olivia Newton-John's big brother and Jenny was a GREASE fan (knew every song). Jenny had an acylovir intravenous drip for 3-4 days and made an excellent recovery.

1989, aged 11 years

Jenny was in Grade 6, her final year of primary school. By this time, Dr. Holmes was 95% sure that the Romberg's was in remission and so scheduled Jenny for surgery. We were told very clearly that if it wasn't in remission, the results of the surgery would be short-lived. He also referred her to a child psychiatrist for pre-op counselling. Dr. Holmes is concerned about the psychological aspects of facial conditions and wanted to be sure that Jenny really wanted this operation for herself, and not to please him or her parents. This is the medical details of her first surgery: "Using a craniofacial approach with a coronal flap, the superioror bits were dissected out and the right side was augmented and recontoured using split cranial bone grafts. The deficient soft tissue was augmented with aperi cranial flap and the coronal incision closed". In layperson's terms, this means that Jenny had an incision from ear to ear across her head behind the hairline. The bones were rearranged around her right eye socket with bone from the back of her skull and then her forehead was smoothed out to improve her "coup de sabre". This operation took many hours (at least 4-5) and Jenny returned from the operating theatre with an incredibly swollen head which was all bandaged up and blood stained. None of us were prepared enough and I remember Caroline (aged 9 at the time) being very very distressed. Any jealousy, about the attention Jenny was getting, went quickly out the window. She had about a week in hospital and was very swollen for a long long time. This photo was taken 4 months later on the plane coming home from a family holiday in Fiji. Jenny is on the left and Caroline on the right.

Unfortunately over the next 6 months, Jenny developed headaches and some blurred vision (brain scans were normal) and when Dr. Holmes saw Jenny in October, he noted that there was indentation in her right eyebrow. By June 1991, Dr. Holmes was perturbed to see more notching of her forehead region, which indicated that the atrophy process may not have been burnt out, as he thought 2 years ago.

1991, aged 13

Jenny had her second operation on her upper lip. Again we knew that the disease may still be progressive, but Jenny was keen to proceed. Jennifer's upper lip was injected with her own fat taken from her tummy. Unfortunately for Jenny, most of the fat reabsorbed.

1992, aged 14

As Jenny was about to commence orthodontic treatment with Dr PeterScott, it was necessary to have all her wisdom teeth removed, so Professor Levantdid this operation. Both doctors were members of the cranio facial team at the time of her diagnosis. A word for the Aussies - Jenny's orthodontic work was paid for by the government (Medicare not private health insurance) as Jenny has a classification similar to a cleft palate sufferer. It took a few letters from Dr. Holmes, Dr. Scott and our local dentist, Dr. Lou Novak to Canberra to get approval. It saved us a few thousand dollars! The dental card runs out when she turns 22 this November so she is seeing Dr. Scott next month for another checkup.

October 1993, aged 15

Migraines and visual problems. Jenny started getting frequent severe headaches. Her right pupil would become very dilated and she had blurred vision. Over a few days, or sometimes a week or more, Jenny would be very irritable, at times erractic, sometimes depressed but generally she was very debilitated and missing out on a lot of her education and a lot of fun with her friends. And so began the rounds of consulting eye specialists & neurologists, having brain scans, MRI's and even a cocaine eye test. We seemed to be at the doctors every week for months on end. After trying various medications she was eventually commenced on a drug called TRYPTANOL (ELAVIL in USA) which worked well. The major side effect was drowsiness. Unfortunately, these headaches & visual problems continued until the end of 1996.

June 1994, aged 16

Dr. Holmes was convinced that the Rombergs was still active as her coup de sabre had worsened slightly and he postured that her eye symptoms were related. He told us that he would procrastinate for the next 12 to 18 months to see if the disease progressed any further. Naturally this was disappointing, yet again. The hardest aspect of this extraordinary condition is the uncertainty and unpredictability.

June 1995, aged 17

Once again, at a routine check-up, we received disappointing news from Dr. Holmes. He thought she still had active disease. Again he reassured us that the natural history of this condition was that the disease would settle down in early adulthood. This photo of Jenny was taken in her final year of high school.

Later that year, Jenny required surgery on the inside of her nostrils as she had developed a major "sniffing" problem. This operation is called linear cautery of the turbinates. There was an option of a much more complicated operation that would solve the problem for good, but Jenny preferred the simpler op even if it needed to be repeated in a few years (it did! - she had the same op again in February this year).

June 1996, aged 18

Checkup time again and finally the news that Dr Holmes thinks it has probably burnt out. He was convinced enough to plan surgery, later in the year. In December 1996 he operated on her upper right lip and coup de sabre. From what Dr Holmes has told us and in a letter to Jenny's local doctor, this is what happened. The procedure involved harvesting fat from her tummy, and sending it to the lab to be centrifuged and filtered so as to get pure fat cells only. (Previously in 1991 & 1992, the fat had not been centrifuged) The cells were then injected into the regions (lip &forehead) and were expected to take as a graft.

February 1997, aged 19

This time Dr Holmes did a rhinoplasty and moved some healthy tissue from the left side of her nose to the right side. He had always told us that noses are the hardest bits to fix as the tissue doesn't stretch as well. He also filled out her forehead and lip again with fat injections(dermisfat grafts) using a new technique. Jenny was the first of Dr Holmes' patients to have this new technique. Unfortunately I don't have any information to share but in time I hope to be able to do so. In a letter to our local doctor he wrote, "So far, it seems to be excellent and I am very encouraged that we now have a new tool in our armamentarium for these unfortunate patients" Jen was so well at the end of 1997 that she accepted a scholarship to study overseas at The Hague in the Netherlands. I was very comfortable with this as we have close family and friends in The Hague and Rotterdam. (Her dad,Paul was born in Holland and came to Australia as a 4 year old). The only hiccup was that 8 weeks before she was to leave, she got a severe dose of glandular fever, with associated liver function problems. Her throat almost closed over and as usual, ended up in hospital for a week. She required I/V cortisone and management by an infectious diseases specialist. However, determined to go, she rested, as advised, and left for Holland just after Christmas, 1997! Jenny had a fantastic 6 months in Europe and was very very well all the time. On her return to Australia she continued to have excellent health until the end of the year. She continued her studies in Public Relations.

March 1999, aged 21

Jenny saw Dr Holmes again as she was not perfectly happy with her nose. He was a bit concerned that perhaps the Rombergs could still be active but wasn't sure. When we saw him again in June he said that he did believe it has stopped and that the real problem is the increase in the size of the left side of her nose, causing the asymmetry. He took tissue away and it seems it has grown back. He is confident enough to proceed with some minor surgery, (including a dermis fat graft again to her forehead), to correct this asymmetry. Unfortunately in April, Jenny has had a recurrance of frequent severe headaches with the same visual problems again. She has seen the neurologist and eye specialist again. Her latest MRI is normal which is nothing new. The advice was to recommence on Tryptanol tablets at night and so for the past 2-3 weeks, Jen is headache free but very drowsy as a result of the medication.

Mother's Day, May 9, 1999

My sister Eileen, Jenny's aunt & Godmother discovered the Romberg's Connection and at 11:30 pm she rang with this incredible news. Jenny & I went to bed 4 hours later at 3:30 am!!! Fortunately, Anna who is a 15 year old computer whiz was immediately able to set up some shortcuts for me and now everyday, I eagerly await news from overseas and interstate. Anna now affectionately calls Jenny a Romberger!! And Jenny has told many other friends about the connection. One of Jenny's fears has been that her friends thought she was a malingerer!!. Knowing that she is not the only one to have severe headaches and other problems, has been a great comfort to her, and to her family. Words cannot explain what this has meant for us both. Suffice to say that Jenny's spirits have soared and so have mine!!

July 14, 1999

Jenny was admitted to the Epworth Hospital here in Melbourne at 7am. We were absolutely delighted when one of the other patients, also scheduled for surgery introduced her Mum and herself - AND YES SHE HAS ROMBERGS TOO. Nerida is a little older than Jen, and was absolutely delightful. Her surgery was much more complicated and after surgery she was moved to a private room (as was Jenny ) so we weren't able to see her again. So Melissa, if you ever read this, hello and we hope you had a very speedy recovery. Dr Holmes has told us he has many patients with Rombergs. There is no doubt that he is definitely an expert with this condition and a very very gifted surgeon. He is also one of the nicest people on this earth and has always treated Jenny like she is a princess. We have been so blessed. Jenny's surgery involved dermis fat grafts to the right side of her nose, her forehead (again!!) and the area to the right of her eyes. The splint on her nose is now off and all the tiny sutures have been removed and she looks beautiful now that most of the swelling and all the bruising has gone. Dr Holmes is delighted with the results so far. We hope and pray that after 10 years and quite a few operations that this the LAST ONE !!

August 1, 1999

So to close Jenny's story, being a mum of a child with any disability is hard work. In writing Jenny's story I have relived some of the sad times, but I have also realised that Paul & I have done our very best and done well. We are very proud of our daughter and Jenny is one in a million, not because she has an incredibly rare facial condition, but because she is the lovely young woman that she is today. We are also very proud of Caroline & Anna. It is difficult to have a sister with such difficult health problems. They have missed out on having our attention at times, we thank them so much for their support of their sister. If you are struggling as a MUM, because of Rombergs, then do email me and we can chat Mum to Mum, across the w.w.w. You are most welcome - it would be my pleasure.
Love and take care my friend,
Marita

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