Mason was born on 20/6/96 in a private hospital in Sydney after a normal pregnancy. His older brother Brandon was 2 years old and seemed unaffected. Everything was perfectly normal until Mason had his first suck of milk. He immediately became lethargic and disinterested in any further feeding. He ended up that night in their small "special care nursery" where a large matronly nurse kept telling us that this happens to all babies and not to worry.

Over the next 4 days he slipped or crashed into a coma and his heart rate dropped in half. We were told that this was all OK. On day 4 our Paediatrician who had been doing tests and had Mason on antibiotics called us in. He didn't know what was wrong so he would transfer Mason to the new Children's Hospital. It had been moved from the city only a few years earlier and was only 20 min. drive from our home. The nurse took a photo of Mason as he left in the intensive care ambulance. We were told later that this is done when they don't think the child will make it.

It was of course midnight and we all spent a very bad night at Westmead hospital. Within 16 hrs they had diagnosed MMA and treated the symptoms successfully. For this we are extremely grateful. Then came the confusing and unbelievable explanations of MMA. All the medical staff quietly prepared us for the inevitable and all the reports we read pointed to a very bleak outcome. The doctors all pointed us to the metabolic specialist who was the expert. This Dr was however quite positive and saw no reason why Mason would not grow up and go to school as normal, with perhaps a slight amount of delay. We were now completely confused.

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Mason (aged 2), five weeks after the liver transplant.

After 3 weeks in neonatal intensive care Mason had improved enough to come home. The discharge Dr told us to enjoy the little bit of time we would have with Mason as the initial insult from the high ammonia level would have given him massive brain damage and he was unlikely to live 12 months.

During the first year we had 2 hospitalisations for metabolic decompensation. His biopsy returned from Canada to confirm MMA mut O with less than 1% enzyme activity. It couldn't have been worse. He was however growing and developing albeit a little below the normal range. He was fed via a NG tube after months of declining appetite and 2 hr meal times.

At about this time our rather optimistic Metabolic Specialist told us that there was a cure. We just looked at each other in disbelief as we were told about liver transplantation. Only 5 other children in the world with MMA had had a liver transplantation in an attempt to cure the disease. One had died and 2 had developed movement disorders that left them permanently shaking. (Basal ganglia damage) Mason was, in fact, the first in Australia so there was little information.

We were lucky in this time to meet Dr James Leonard from England who concurred with our specialist that Mason was living on borrowed time and the transplant was Mason`s only chance of survival. We were also convinced that this was the right thing to do as we did not want just a few good years but a whole life for Mason. We were told that the previous bad outcomes were caused by a dramatic rise in MMA levels during the long operation.

The trick we were told, was to dialyse the blood for 4 hrs before transplantation to lower the level of MMA. This is hard to fit in, as there is little time before any transplant, especially if it comes from a remote hospital. We spent a week in hospital for a "liver work up"to test for Masons suitability and for us to have many interviews with medical staff. After this we were put on "the list" and told to be within 2 hrs drive of the hospital. Needless to say we stayed very close to home, which severely restricted our activities.

As organ donation is very low in Australia, and as the most needy go to the top of the list we had a very stressful wait. Our fear was that he would not be considered until he became very ill and then it would be too late to rectify any possible brain damage or for the operation to be as successful as it has been.

One of our problems during this time was that no one could tell us anything about the other transplants or if any more had been done. We felt in the dark. Our liver specialist, Dr Dorney, was excellent, telling us about the risk of transplant. Basically 30% of children will die or have very bad outcomes in the first 12 months. The other 70% should do well, but will be on immunosuppressant drugs for the rest of their lives (as the body never accepts a foreign organ). We knew that this was a big gamble but it was Mason`s only chance at a relatively normal life.

As Westmead Hospital was still relatively new, it did not have the staff or equipment to perform liver transplants. So children had to go to the adult's hospital in the city some 50 minute drive away. After the operation they would be transported by ambulance back to Westmead. This concerned us a little. We could only hope that the transplant unit for children would open at the Children's Hospital before our turn came up.

We could not understand how this would cure him as every cell in his body has the defective enzyme and is producing MMA. Also the liver is relatively small compared to the rest of his body so how could it produce enough good enzymes. We were told not to worry and that he would be cured.

After 8 months the phone rang and Dr Dorney said "its time". For us it was like winning the lottery but at the same time there was a great feeling of guilt that our child was to be given a second chance at life while somebody else had lost their life. The operating room had luckily opened the day before. So he was the first transplant done at Westmead. We think that the harvesting of the liver was held up to wait for Masons dialysis. For the first time donor and recipient were in the one hospital. As it was a child's liver it did not have to be cut down, a procedure that happens with adult livers. The operation started at midnight, which is normal as this is the only time that theatres are spare. We were told it would take 8 to 12 hours or maybe more. Dr Dorney contacted us at 6am only 6 hrs later and in a very tired and dry manner told us that "it was all over". He meant to say that the op was over and that it had gone so well that Mason was in intensive care recovering. We laughed about it later.

Mason spent 5 days in intensive care and then 3 weeks on the ward. He did extremely well. It usually takes longer than this. These early days are fraught with danger as the threat of rejection is the greatest then and the dose of drugs is at its highest. Mason was kept in isolation all this time, which is not easy with a 2 1/2 year old who wants to get out and play. We also stayed with him every minute day and night, which takes its toll when you are trying to work as well.

Going home was a big step for us as we now had 12 medicines a day. Some had to be on an empty stomach others with food, and he still could not go with out food for too long. We had many discussions over the best routine. We also had to keep him infection free ie other children with colds, dogs, cats etc, groups of people, sterilising water, etc. People don't understand that his operation is over but he has to be careful of infection for the rest of his life. We lost a couple of friends or acquaintances that said, "Isn't he better yet?"

With regards to the success of the operation we would like to say that before the operation MMA level jumped from 300 to 700 regularly. The day after the op it dropped to 100. We were ecstatic. Day 2 it was 200. Day 3 it was 300. Day 4 it was 400 where it levelled out. We were perplexed and so was the metabolic specialist. It seemed that he wasn't cured but time has told us that he is metabolically very stable, and we know that he will not go into a metabolic crisis. We say that he is half cured of MMA and now has transplant disease as well, which is much, much better than where he was before.

We were soon talked into taking Mason`s NG tube out, as he was so much better. We were very hesitant, as we knew how dependent metabolic kids are on good nutrition. After a couple of days we were back to the bad old days of 3 hr feeds which invariably ended in forcing milk into his mouth with a syringe as we both held him down. After 2 weeks he was in hospital with an infection and dehydration. The liver specialist could not stabilise his bloods and he asked if we would re insert the NG tube. We jumped at it. He was well enough in 2 days to go home again.

It soon became apparent that his kidneys were failing. What they know now is that the combination of MMA and immunosuppressant drugs causes damage to the kidneys. Blockage of the tubules. A biopsy confirmed this and we were told that he would need a kidney transplant in 2 to 6 years. In an attempt to lower his MMA and improve his kidney function we discussed reinstating night feed and restricting his protein again. ie all the things that we did pre transplant. We were told that it probably would not help, as the new liver was doing so well. We tried it anyway and found that the MMA dropped from 400m/mol to 200m/mol and has stayed down consistently so we have maintained the night feed and protein restriction.

The next step for us was changing from the NG tube to a gastronomy button. It seemed like we were admitting defeat, but we knew that it was inevitable and the best thing for Mason. He had been marvellous, never pulling it out in 3 years, but he also was having trouble talking. We didn't think that this was because of the tube but he did start to talk soon after it was removed, and now we can't stop him.

Mason has had 24 hospitalisations. He is such a trouper. He enjoys going to hospital and even calls it his holiday house. He is great with blood tests as we always use Emla cream. He started Pre School at the age of 4 1/2. The teachers love him, as he is so full of life and loves being with the other children. We know that he will get some minor infections during winter, but seeing him mixing in with the other children and developing so well is worth it.

Although Mason is on many more medications now than pre transplant and we are still feeding him overnight and regularly during the day, we have moved away from a baby who vomited a number of times a day and refused feeds to a happy, "healthy" child whose quality of life is much better. There is nothing now that stops him doing almost anything he wants. His medical condition doesn't rule his and our lives like it did previously. At times we even forget he has MMA and had a transplant he is so normal.

This has affected our family life, David resigned from his demanding management job to spend more time at home and Chris went back to full time teaching. David now does some casual work as we have wonderful grandparents who come and stay as required to help out. Brandon has found the going hard as he feels left out and not as special. This aspect of siblings is very important but is hard to deal with properly when you are in the middle of a crisis.

We are coming up to the 3rd anniversary of his transplant and things continue to improve.Mason has now started big school and is loving it. He is a very bubbly outgoing child who must be driving his lovely teacher mad.

The bad news is that his kidneys continue to pose a problem. His blood pressure remains high and he is now on 2 new medicines in an attempt to reduce it. Also his transplanted liver is playing up as the bile ducts have collapsed and even after 2 dilations they remain a problem, which the Dr's think will only get worse requiring a second transplant. So now we are looking at a combined liver/kidney transplant somewhere down the track...

Good luck with your families and we are happy to answer any questions that we can.

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Mason, aged 4

Regards Chris, Dave, Brandon and Mason Gordon, May 2002.