I'm so tired of answering that question to you adults out there.... and I thought the biggest challenge would be handling children's looks and questions....
It is all thanks to my brother Craig, that we took Matthew to his paediatrician about the 'blue hollow patch' on his cheek. Craig was visiting one evening and he asked what had happened to Matthew that he had a bruise on his cheek. I remember saying "he must have fallen at school or something....". The next day I asked his teachers if he had fallen off some apparatus or walked into something and they said they thought he had hurt himself at home.
My brother Craig and Matthew had always been really close and Craig had even told me that Matthew is the son he never had. They have a great relationship and it's just really sad that Craig and his family have left our country in search of a better life for themselves abroad. That said, since this experience I now think of Craig, a bald, loud, boisterous, no-nonsense person, as Matthew's Angel. It was Craig who was so determined to find out what was wrong with Matthew. He was determined to help fix 'Matchoo', as he calls him.
I have always considered myself one of those 'stressed out moms' who panics at the thought of every chip besides a Fling, being able to choke your child so I couldn't wait to get to see the paediatrician once the appointment was made. Craig decided that he was going to do his own investigating during the two days I had to wait for the appointment. He knew something wasn't right and I remember thinking "Why's he stressing, there is nothing wrong with Matt". Craig and Jo, his wife, went onto the internet and I remember him telling me later, "all I did was type in "sunken in cheek" and a library of information was spewed out about hemi-facial atrophy, more commonly known as PARRY ROMBERG SYNDROME.
He called me that night and said in a really calm tone that he didn't want to worry me, but out of the seven signs or symptoms of this disease, Matthew had 6. As Craig mentioned each symptom I was saying either yes or no. There it was. Matthew hadn't been the healthiest of children and although he was really active and enjoyed golf, cricket and soccer, he wasn't a big eater often ill with temperatures, tired and he even spent an entire weekend in hospital with a 'viral infection'. I never got to know what viral infection though. In hindsight, I think that the disease was in his system then and just 'doing it's thing'. In my heart, I knew Craig was right but in my mind I was thinking "no way, it has to be something else, Matt's face is not fading away". I kept on saying, "well tomorrow the doctor will be able to tell us what is wrong." What Craig was reading to me was disturbing.
The internet describes Parry-Romberg Syndrome as "a rare disorder characterized by atrophy (wasting away) and shrinkage of the tissue on one side of the face. The atrophy may also affect the tongue, soft palate and mucous membranes of the gums. Muscle and bones are rarely affected. The eye and cheek of the affected side may become sunken… pain may occur... facial hair may turn white and fall out... migraine-like headaches, trigeminal neuralgia.... seizures.."
The paediatrician took one look at Matthew and said that he had never seen anything like this before. He scheduled an x-ray of Matthew's face. I remember how scared my little Matthew was standing in front of that huge machine. Once we had taken the x-ray back to the paeditirician, he called another doctor. I remember him describing my son in words that made me frown. So an appointment was scheduled for two days time to see a Maxillo-Facial Surgeon. I armoured myself with a print out of what Craig had told me. I don't know why I did that. As we walked in, he looked at me and he told us the news I in my heart knew I was going to hear. I started crying. My husband, Gavin was the strong one and poor Matthew just sat on the chair, his feet dangling in the air looking at me. We were then told to visit a plastic surgeon. I remember leaving there and Gavin taking Matthew back to pre-school and I sat in my car, in the hospital grounds crying. Why my child? Why Mathew? Rather make me ill. I drove straight to my brother and he, his wife and I just sat there and cried. Craig really had a soft spot for Matthew since birth, he really knew how I felt.
We were referred to a plastic surgeon and told to look at old photographs of Matthew to build up a little album, so that the doctors could see when the atrophy started. The plastic surgeon told us the same things we had heard before. He then referred us to a neurologist for an MRI scan. Craig and Jo were at the hospital on the day Matthew had the brain scan and I'm so thankful they were there. My poor child helpless in this huge noisy machine, Gavin and I just staring at him not saying a word. Craig broke the ice, he knew I needed to be relaxed. All I did was cry despite trying really hard to be strong. The neurologist told us some good news. He could note the atrophy but there were no signs of tumours or seizures. So the one and only choice we had, plastic surgery, was ours. We then had to see an opthamalogist to ensure that his eye sight was normal, to ensure the bones weren't affected. Again big machines, big words and thank God all is fine. These visits have to be done every 6 months.
There had never been a reported case of PRS in such a young child in South Africa and the plastic surgeon was keen on us taking Matthew to a local hospital for other surgeons and doctors to "have a look". I was keen but Gavin put his foot down. He decided there was no way they were going to stare at and prod at his son like some experimental study. He was tired of specialists, surgeons, scary machines, big words and being told the same thing over and over again. One of the procedures they could do was inject fat into the affected area by taking fat away from other fatty parts of his body. This procedure is only done by a plastic surgeon in Johannesburg and has a 50% chance of working and once done, it has to be re-done every 6 months or so. I was keen but Gavin wasn't. At first I was angry with him but Gavin suggested we speak to our family doctor. I had never thought of that after seeing all the specialists we had seen and it turned out that he gave us the best advice ever.
Our family doctor told us Matthew's face is still growing and that we should only do the surgery if Matthew was being affected psychologically i.e. if he was being teased. He also said that if we were doing the surgery to make ourselves feel better, then we should leave it..... WOW... that hit me like a ton of bricks. He was so right. I wanted the surgery done because I was worried about my son being looked at. I was scared, I was angry, I was upset and I just wanted to do 'something'. And this wasn't about me.
I again left the doctor crying and I will never forget what Matthew said to me. I strapped him and his little sister Megan into their car seats and wiping the tears from my eyes I pulled out of the garage and he said, "Mommy why do you always cry when we go to the doctor?"
Not much is known about Parry Romberg Syndrome in South Africa. I stand to be corrected but at last searching the internet, there are about 3 other affected people in South Africa. They know who they are and I have been in contact with them. They are adults now, one has had surgery. We are all members of the Romberg's Connection, an American based website that has been an absolute Godsend. It keeps us up to date on the latest findings of PRS. Because of the size of the USA, a lot more people are affected and a lot more is known of the disease.
So we as a family are leaving things as they are for now. I feel that I have done what I can by also speaking to his school and he has seen a child psychologist. Matthew seems to have developed a sudden hatred for doctor's rooms so we have decided to quit visiting doctors and specialists unless we have to. Right now he is pretty 'normal'. He plays soccer and has friends sleeping over like any other 7 year old. His teacher has reassured me that none of the children ridicule him about his face and funny expressions in the classroom and that his school work is perfectly normal. His school has been really great and as this disease 'triggers off' nausea, headaches and facial expressions that make him look like he is 'scrunching up his face', they let him rest in the sick room as soon as he says he doesn't feel really well.
So when next you notice Matthew's 'bruised cheek', don't ask him "what is wrong?" because you might be surprised when he tells you, just like he told a mother in the Hypermarket quite a while ago "There is nothing wrong with me, I have Parry Humpledink Syndrome...".
Aren't children just too precious for words.
Susan
South Africa
January 2005
Feel free to leave a message for Susan at rombergs@hotmail.com.