Personal stories are a way for people to tell others of their experiences of living with a genetic condition themselves, or of someone close to them.
AGSA has found that the personal stories are the most well read section of the newsletters. If you would like to submit your own personal story, please contact us at 02 9211 1462 or info@agsa.genetic-support.org.au.
Every newsletter contains a personal story. If you would like more information on our back-issue newsletters, please contact us at 02 9211 1462 or info@agsa.genetic-support.org.au.
My dear old Dad passed away in 1977. He had been paying a visit to me and my family in Townsville all the way from London. Dad had seemingly always been somehing of a finicky eater, always fussy about what he ate. In fact Mum always said that he never ate enough to keep a rabbit going!
Not long after arrival, he started to feel really unwell and looked less than his chipper self. The local GP suggested various tests and it was obvious that he was not getting better and so it was decided that he should return to England for immediate hospitalisation. Leaving my wife and two pre-teen children, I accompanied him back to London where he entered a local hospital. Just a week later he passed away.
After making all the arrangements, I returned to Australia into the bosom of my family. Around this time I started to suffer severe back pain which was put down to my over activity with the various sports that a 34 year-old enjoyed – Cricket, Rugby and even snooker!
The discomfort became fairly acute and my wife insisted that I visit our local GP, the same man that had seen Dad. He asked after Dad and when I told him that Dad had passed away, he asked for the cause of death. A swift letter to the London revealed that he had passed away from chronic renal failure caused by untreated Polycystic Kidney Disease! The Doctor then referred me to a Renal Physician who explained the nature of the disease, especially that it was an inherited condition which caused cysts to grown on the kidneys. Over a period of many years there was a possibility that the cysts would grow and that IN SOME CASES could cause kidney failure. Not what I really wanted to hear!
He ordered various tests to check the level of my condition an confirmed that I did indeed have PKD. My initial feelings were of despair, as I had only recently seen the affects on my Father. He then advised that should the condition deteriorate, I could have at least 15 years before any significant effects would be evident. That’s the bad news!
Over the next few years, my wife and I began to research the condition, visiting libraries and writing away for articles. This was all prior to the wonders of the Internet! After all this careful reading it became evident that the best thing I could do was to get on with life and whilst always keeping my condition in mind, I should jet get on with my life. I was 34 years of age and in a reasonably fit state. I had a loving and wonderful wife, two children and a settled life style.
For the next several years, apart from a move to Sydney and a change of jobs, life was very full and entirely enjoyable. The occasional blip with an aching back and the infrequent passing of a little blood in the urine was just something to put up with. A little frightening at first but nothing much in the scheme of things.
I was working in the travel industry and was travelling to most parts of Australia and around the world with little or no problems. I visited my Renal Physician in Sydney every six months or so and had all the necessary blood tests and it wasn’t until the late 80’s that I started to have a few problems. I started to run out of puff and unthinking people would comment on how “gaunt” I was starting to look!
In the early part of 1990 it was decided that the conditioned has worsened to the stage that I was likely to be a candidate for Dialysis within 12 months or so. I was admitted to hospital the have a minor procedure involving the creation of a fistula in my left forearm. This was part of the preparation for the Haemodialysis option that I had chosen. My working lifestyle just did not suit the Peritoneal Dialysis option.
A sudden visit back to England to be with my Mother during her final days, interrupted the scheduled commencement of treatment and so it was a pretty sick person, both physically and emotionally, that commenced dialysis the day after my return from England.
The beneficial effects on me were not overnight as we did have some early problems with the fistula, but once this was sorted out and a new one created, it was all steam ahead! Within a few days I was starting to feel so much better as the dialysis kicked in and my failed kidneys were by-passed.
This early treatment was undertaken at St Vincent’s Dialysis Unit in Sydney and I was very soon able to recommence work on a part-time basis.
My family was totally supportive in so many ways which made it possible for me to just concentrate on the task at hand. My first objective was to take up the option of Home Dialysis. This meant a six week course of both treatment and study at the Sydney Dialysis Centre at “Duntrim” in Sydney’s eastern suburbs. The staff were simply amazing. They had masses of compassion but preferred to concentrate on the task at hand - make their patients (clients) independent of the hospital dialysis system and able to more or less look after themselves, with the help of their respective partner.
We happened to have a spare bedroom which was instantly converted into my personal “Dialysis Den”. Up came the carpet, down went the lino and in went my very own lifesaving Dialysis Unit together with a tonne of back-up medical supplies.
It took so little time to get into a pattern. I began full-time work by receiving the thrice weekly treatments during the evening. With the invaluable help of my devoted wife Margaret, I continued along this path until the next significant event in my life which occurred just three years later. My Transplant! But more of that perhaps in a later issue!
PKD is a disease that is affects those who suffer from it in so many ways. Many people will go through life with little or no significant problems other than a regular check-up and perhaps the assistance of medication. At the other end of the scale is the person who has to under go many operations and possibly, ultimately, dialysis with the possibility of a life changing transplant, sometime down the track.
My only sincere regret is one that I’m sure my Dad would have shared. My daughter has inherited disease. She is currently 30 years of age, has a loving husband and two of the very best children in the world (but that’s only my unbiaised opinion). My son (who by the way has the other two very best children in the world) is free from the disease.
What of the future? We can only take it one day at a time. Although PKD has and is having a profound effect on the life of myself and my family, it has not all been negative. Some of the best things that have happened to me, have happened BECAUSE I have had health problems. There is not enough space or time to write about it here, but as a 59 year-old, middle-aged grandfather of four who has come through a lot of what PKD can throw at you, plus heart by-pass surgery and more recently Prostate Cancer, I am still in full-time work and still hopefully contributing to society.
Genei technology is coming on apace and, God willing, in not too many years down the track there will be no need for people like me to write articles like this. Just remember that like Cancer, PKD is just a title. It’s not a death sentence. It may have some substantial life-changing effects on you and your family but with the right approach, you can get through it.
David Ridoutt
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 off 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.
After 3 weeks in neo natal 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 . 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 the transplant 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 at Westmead Childrens Hospital 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 5days 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 from300 to 700 regularly. The day after the op it dropped to 100. We were ecstatic. Day 2 it was 200. Day3 it was300. 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 kidney function has also improved and a transplant now only seems like a distant threat.
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 test as we always use Emla cream.
Three weeks ago 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" 4 1/2 year old 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 14 months ago 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.
One year later Mason has 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. In his teenage years we are told.
Well here we are in Oct 2002 ,5 1/2 years post transplant and he has just had his 4th dilation of his bile ducts and the radiographer said that it can't be done any more. So we are looking at a surgical option of removing the bile duct and joining the gut directly to the liver in a Y loop. His biopsy also showed chronic rejection so we are dubious of this option and would like to consider a new transplant as a better long term alternative. We are meeting with the Drs soon so will see how we go.
Good luck with your families and we are happy to answer any questions that we can.
Regards Chris, Dave, Brandon and Mason Gordon.
A few weeks after our first child was born we received a phone call from our family doctor. He had the results of a routine blood test that all children in Australia have when they are born. The test had revealed that our baby daughter Amelia (now five) was born with cystic fibrosis.
My husband Glenn and I were devastated when we found out what our beautiful new baby daughter had in store for her health-wise. A lifetime of constant medication and possible hospitalisation wasn't what we had pictured for our child.
Amelia is a happy, bright child, but has been very sick, spending a lot of time in hospital. We had always wanted more children but we were then faced with the real possibility that they too would have CF. Glenn and I didn't want to see another child go through what Amelia has and will have to go through. We felt that another child with CF would cut down on the quality of care we could give both children.
We contacted our O&G specialist to see if there was anything that could be done to prevent future pregnancies having the same condition. The only option we were told about was termination of a pregnancy, once it was established that I was carrying an affected child. Terminations were not something we could face time and again. In fact if we fell pregnant naturally we felt we would have the baby (CF or not).
It was finally through word of mouth that we came across preimplantation genetic diagnosis service. When we first heard about PGD we were thrilled and excited that such a technique was available. It solved many emotional and troublesome issues for us.
After going through all the other options we decided that PGD was the best one for us. We concluded that making an effort to ensure our next child did not have CF was an excellent way to ensure that we spend high quality time with all our children - even if it did mean we would have to go through IVF. We also felt healthy siblings were the best thing for Amelia and us as a family.
We went to the IVF centre for interviews about IVF / PGD and had blood taken for a PGD genetic work up. This work up took a few months to complete then we started our IVF cycle.
The needles were a bit of a worry from the start. Amelia used to love watching me give myself injections as she has had quite a few blood tests herself. She said mummy was 'very brave' having her medication and used to rub it for me afterwards!
I was surprised by how quickly the whole process was from start to finish.
For me the most difficult part was the egg collection as I found it painful and the drugs made me very emotional during and after.
After the egg collection the eggs were fertilized and the embryos tested. Ironically none of our 6 embryos had the CF disease. Five were CF carriers though. We chose to have two of the embryos transferred.
There was still the worry of whether either of the transferred embryos would take. I really felt calm about the waiting period. We didn't expect to become pregnant first go but when the whole thing was over I was surprised at how confident I felt. I kept on ringing the nurses to complain about the bloating and cramping and they kept on reassuring me that this was normal and may even be a good sign. I did feel pregnant but I didn't know if it was just the bloating making me feel this way.
When we rang they confirmed that 'yes!' we did have a baby on the way! During the next few weeks I became so sick I was sure that there were 2 babies in there! My hormonei levels, however, were quite low, apparently making it less likely.
We were thrilled (if not a little apprehensive!) to find out that both embryos had taken. Elli Laura and Connor Joseph were born 4 days before Christmas on the 21st of December 2000 by Caesarean section. They were both in transverse position and Ellie was pulled out first, one minute before Connor. Elli was 6lb and Connor 7lb 3oz. No wonder I couldn't walk! After the birth, blood tests confirmed as expected that Elli is clear of CF and Connor is a carrier.
One day Amelia may ask us why we wanted so badly to have a child without cystic fibrosis. It is a difficult thing to explain to a child. We love all our children equally and feel that this way we are able to give each one of our children the time, attention and love they deserve.
The joy we have experienced in our twins makes all the anxious moments, needles and processes worthwhile. We feel so lucky that it worked so well for us. The twins are such a delight and loved so much by their big sister!