Personal Stories

Holly's story and her families experience with Huntingtons Disease. 

Below is a video highlighting the need to bring Rare Diseases for the forefront across the community.

Back in 2002 my family didn’t have a home computer; there were no iphones or ipads. It would be 12 months before we bought one. Once we did I didn’t even think to look up the illness MeningioEncephalitis that my 11 month old daughter had been diagnosed with after having the flu in the previous spring. Kate had forgotten how to crawl initially but a month after discharge even with tonic/clonic seizures for over an hour and an EEG showing brain slowing, was to us - fully recovered. For 12 years when we were asked for her medical history, we said she had had Encephalitis. We lived in ignorant bliss that actually, what she had was not, in fact Encephalitis. We lived without knowing of the gene mutation lying in wait to strike again.

Acute Necrotizing Encephalopathy (ANE) according to Orphanet is “a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. Onset occurs during early childhood, typically a few days after a febrile illness (these include chicken pox, rubella and HSV6, to name a few). Manifestations include vomiting, seizures, spasticity, language regression, rigidity and abnormal posturing of the head. Residual neurologic impairment (muscle weakness, speech disturbance, intellectual deficit and mood disorders) persists in some patients. The disease is chronic in one out of two cases.”
Kate had her 2nd attack when she was 13, it was a lot worse. Her MRI showed many lesions. This time we were care flighted to Sydney. This time, she was correctly diagnosed with ANE. We were made to promise by our neurologist not to look up ANE on the internet. We didn’t; but had we done so we would have seen that 1 in 3 patients die in the acute stage, 1 in 3 is severely disabled and the remainder have a good recovery. The prevalence of the disease is 1 in more than a million. Most cases initially begin with influenza.

This time, when we finally returned home, I googled madly. I found a few articles but no support groups. ANE was not listed on many, many rare disease sites. Finally six months later I found a family in Canada, they had been searching for seven years. We decided to set up a support group on Face Book and we now have 30 families worldwide, only two are from Australia. The families are from New Zealand, Finland, Malaysia, South Africa, USA, The Netherlands, India and UK to name a few.

This group has been invaluable to me; we have laughed, cried, debated and mourned. We have shared stories, triumphs and virtual hugs. Not all cases have the genetic mutation but for those of us that have it in the family, every virus including all types of flu and gastro; any infection, can potentially kill or further disable our children.

Kate was in the third of patients that have a good recovery. Her mutation is de novo meaning it is new in her and not inherited. She now has an Acquired Brain Injury and is attending a mainstream high school. Her only defence against another attack is to have vaccinations.

In July 2017 the support group launched our own website after registering as ANE International in New Zealand. Our hope is to find and give support and information to other families and raise awareness of ANE, particularly in the medical community where many of us were initially sent home with” just a case of the flu.”

To read more of our stories and further information on ANE please see our website at www.aneinternational.org .

One of our wonderful families has provided links to their own personal story of courage - as well as information on their fundraising initiative to raise funds for research into Gyrate Atrophy. Please follow the links below and contact us for anymore information.

https://www.mycause.com.au/page/153665/helping-olivia-find-her-hope

http://helpingoliviafindherhope.weebly.com/

https://www.instagram.com/helpingoliviafindherhope/

Monika and Vivek, Parents to Kush

Kushagra (Kush) was born on 21 Feb 2013. He is our fourth child. He has two elder brothers and an elder sister. Mom’s pregnancy was uneventful other than diet controlled gestational diabetes. Kush was two weeks overdue. The labour was induced as the midwives noticed he was appearing distressed. He was born after a brief labour of twenty minutes. He passed all his new born tests without a hiccup. His both APGAR scores were 9 (best). He gave a loud shriek in his first few minutes but then settled down. He was 4 kg and 240 gms at birth. A good healthy looking baby and was discharged the third day and everything was normal. The only thing we really noticed in his first few days was that he didn’t want to open his eyes that much and at that time we thought that to be due to his rushed birth.

He slept a lot in first few days and about three weeks old he started crying inconsolably at night from 9pm to 3am without a break. We took him to the GP and were told that this was colic and is normal. He saw the GP at least multiple times in his first 6 months. He also had his regular early childhood checks. We raised his shrieking but the practitioner’s response was always that this would go away at around 16 – 18 weeks old. He would begin with crying then screaming and arching his back and go on for a few hours, arch backwards, stiffen out and in the end his body would become limp and then he would sleep. We tried every possible way to calm him down but it was getting bad to worse. Kush nursed well but hated the feeding bottle. We had tried every bottle in the market but nothing worked. He couldn’t have a bottle and breathe at the same time. He was very floppy and made very little eye contact. He used to hold his breath whenever we took him out even if it was slightly windy. In hindsight and after speaking to a lot of parents, we now know that this were typical behaviours of a child with FoxG1 condition.

At around six months old we were concerned about him not meeting his milestones. He was not rolling over or sitting, poor head control, no weight bearing and no eye contact. If at all he would gaze right through us like we weren’t there. He was overall floppy. So the GP referred us to the Paediatrician. At about seven months old we had his first appointment with Paediatrician on 26th September 2013 and that day was the worst day for us – having our world shattered with the reality that there was something very severely wrong with our little baby. While the paediatrician was examining him, he said that his head circumference was small, he had poor head control, was not tracking visually and the list goes on. He said there might be something severely wrong with him but he doesn’t know. We were then referred to Neurology at the Children’s Hospital at Westmead, Physiotherapy in hospital, Genetics clinic, Ophthalmologist, and booked for a Brain MRI. The referral papers mentioned Microcephaly and suspected Angelman Syndrome.

The search results that came up with google scared the hell out of us. We knew in our hearts that while he is delayed, he will definitely catch up one day. At the first appointment with Neurologist he pointed out his low muscle tone, head lag and dystonia / coreaformic movements. This began our eighteen months search for what was wrong with our little boy Kush. We went through countless tests that never turned up any answer. We knew that something is off with Kush but the tests kept coming normal.

At eleven months old on 19th February 2014 Kush had his first Grand Mal seizure which lasted about four minutes. This was frightening. He wasn’t breathing for over two minutes and his lips turned blue. We thought he was dying and called the ambulance. He was rushed to the ER. At hospital they did EEG and found epileptic discharges and some abnormal brain activity. Kush was admitted and was put on anti-seizure meds.

Then after about two months in April 2014 he started getting infantile spasms so he was then put on steroids (Redepred). The plan was to keep him on these for two weeks and then wean him off after introducing other anti-epileptics. He ended up being on steroids for over six months. He went through episodes of steroid rage which if you have experienced this is absolutely not fun. I (Vivek) can remember holding him in my hands and he was kicking and screaming with the power of a horse literally for four hours straight. I was worried that he was exerting so much that he would have a cardiac failure. I alerted the doctors multiple times but was advised there was no danger and it was the steroids kicking in.

The human body is a truly amazing machine in its abilities. Also they say what doesn’t kill you only makes you stronger. We were in and out of the hospital, on multiple occasions staying for weeks at a time. For a period Hospital was Kush’s second home. Based on our initial consultation with the Geneticist, before leaving for India, she thought that Kush had an obvious genetic disorder but upon Kush’s physical exam and all the previous tests, the results came back negative. So this time around our Neurologist wanted to do some specific tests which included 75 other genes known to cause developmental delay/ intellectual disability. We nearly waited four and half months for the results. However our Neurologist called and told us that they had found the cause of Kushagra’ s overall global developmental delay and wanted to get us in the clinic to discuss the results.

Finally in March 2015, after 18 months of testing and investigation, we were told that Kush has a mutation on his FoxG1 gene. Kushagra has a unique mutation ( c.946 del ) which has not been reported previously in any database or literature. It is considered a single – point mutation that occurred spontaneously given that neither we (parents) nor his siblings exhibit the characteristics. Finally we had an answer for his condition.

June last year, three months after getting the diagnosis and by contacting the FoxG1 Facebook parents group, we connected with another mother of a FoxG1 boy from Nowra whose so is 11 years old. He is in mainstream school and in an age appropriate classes. We shared our story with her and the conversation was the biggest relief for us having for the first time, being able to connect with someone who truly understood and had exactly lived through what we were going through. The conversation with her was almost as if she was reliving her life when her son was two.
Being a single gene disorder, we are very hopeful that a cure will be found shortly. We would welcome you to join our journey to find a cure for Kush. We feel we are truly lucky to be able to get the diagnosis so quickly and to be able to connect to other families and understanding our predicament more wholly.

https://youtu.be/0P86kUPBO2U is a link to what research has come up with for a mouse with Rett Syndrome which is very similar to FoxG1. Since then we have contacted specialists in the US and locally and everyone has reinforced our deepest belief that a cure for FoxG1 is theoretically possible with the advances in medicine, technology and genomics. We have been tirelessly sharing Kush’s journey with everyone as we truly believe that his is a story that needs to be shared with everyone. If a cure is possible then as parents it is our responsibility to try our hardest to make it happen. A cure is not only a cure for Kush, but for all FoxG1 children and all future parents. There are positive developments almost everyday in the field of genomics that give us even more hope that Kush will be cured soon. The global pharma giant GSK has recently received approvals for gene therapy for SCID. Layla has become a miracle baby becoming cured from a very aggressive form of childhood cancer from being injected by just 1 ml of engineered cells,

With all of these successes happening around us we decided to start a foundation for FoxG1. Researchers who are working on cutting edge of technology are now involved with us to guide us around the science of the cure. Dr Fabian has been instrumental in setting up the Animal Transgenics facility at UNSW and is an expert on modelling disease in animals which will be an essential step for the cure . Dr Szun Tay is one of the leading immunologists who is working on gene editing and delivery via the safe AAV methods. She was instrumental in bringing the AAV technology to UNSW.
The only barrier to a cure is collaboration and funding, which we are trying hard to bring together. We invite everyone to please join us in our journey to overcome FoxG1 and help other children like Kush, please visit www.FoxG1.com or contact Vivek at +61 433 806 830.
What keeps us going is the determination to help others like Kush and work towards finding a cure for FoxG1. What IFF Kush can walk and talk and toboggan and surf and run.

Well that being said – for the past twelve months of his life Kush has been the best we have seen him. He is a very happy little boy. He eats orally and takes fluids via a mickey feeding button, he is spoon fed pureed foods and is maintaining age appropriate weight. He has recently started rolling from side to side and can hold his head up most of the time. He also loves to take turns and babbles. He doesn’t sit, walk or talk just yet. He laughs and smiles a lot he has a very happy disposition. His laugh is contagious and is the sweetest sound in the world. He is still however profoundly delayed but is trying his best to catch up, the real question is what can we do to help him get there.

Our daughter Natasha was born with Williams syndrome in 1982 although we didn’t know then what was wrong with her.

WS is a rare condition occurring in approximately one in ten thousand live births. WS babies develop severe feeding difficulties in the first year of life with problems including vomiting, constipation and a refusal to feed. They may be irritable and cry excessively. Some children, but not all, have raised calcium in their blood and should be placed on a low-calcium diet when typically feeding difficulties improve. WS children have a distinctive facial appearance and cardiac problems.

Natasha spent the first two days of her life in intensive care where her heart murmur was monitored and various blood tests were taken. We know now her distinctive facial features and poor muscle tone were noted and puzzled over. Not too much was said and we were relieved that the heart murmur was not immediately life threatening as our daughter born before Natasha had died of a congenital heart disorder (Hypoplastic Left Heart syndrome) at 32 days.

Natasha returned to the ward and on the third day, cried and would not eat. we remember thinking she looked Asian. Natasha has pronounced epicanthic folds, a little turned up nose, biggish lips with a wide mouth, curly hair and now a winning smile.

Her crying lasted around 20 hours a day for seven months and continued at a less ferocious rate until she was two.

We learned to sleep in shifts and survive on only a few hours sleep a night. Grandparents found more pressing matters in the country and vanished. Two baby-sitters fled in shock and so-called friends became memories.

All Natasha’s milestones were delayed. Her first babbling was at seven months followed by her first smile at 11 months.

From the early days we asked what was wrong and after consulting three pediatricians we started our own program.

Physio, early intervention – you name it, we did it.

At fifteen months Natasha had a squint operated on and at the same time the diagnosis of Williams syndrome was made. We felt instant relief; “now we have something to work with”. I coped, my husband went into deep shock, and we both felt a terrible despair. We were supplied with a piece of information copied from a text book. It did not tell us what we needed to know. The limited information we received was of a medical nature when what we needed initially was practical information.

The doctors told us they knew of only two other WS children in Australia, one family in NSW and one in the Northern Territory.

After many inquiries, we found out there were supports groups; one in the UK and one in America. Lots of valuable information was sent to us from both countries, especially England, where extensive research is now being undertaken. Parents of children with disabilities need this type of information for their day to day survival. We share this information with doctors whose experiences in management of WS children was limited and with the small number of other parents who, like us, wanted a better understanding of the disorder.

At our own expense we sent copies of the information we had received including photographs to all pediatricians and cardiologists around Australia. We asked the question “have you seen a child like this?”

The support group started out of the need to share and help others and our first meeting of twelve families was held in 1985. As WS children all look like brothers and sisters it was a very emotional meeting.

Now there are support groups in each state and 165 families Australia-wide, with a national conference also being held. Sadly, a growing number of our members had their diagnosis made in their 20’s, 30’s, and even 40 when present-day management practices would almost certainly have been beneficial. On the credit side of the ledger, we know of a baby girl where the diagnosis of WS was made at only three days. She had high calcium levels and was immediately placed on a low calcium diet to avoid further damage.

There are 1200 WS families in the UK and 1800 in the USA, plus others in the European community and all the support groups keep in touch.

These are parents who understand what it is like to have a child with a rare disorder. They know what it is like to feel isolated. They want to help by sharing the successes and the failures. They want to know more.

Without publicity of rare disorders, there would be many who would remain alone.

The Association of Genetic Support of Australasia’s role is to support people like myself. Had AGSA been around nine years ago when Natasha was first diagnosed, it would have saved a lot of anxiety, isolation and frustration.

Epilogue: Natasha is now a beautiful twelve year old with flowing, often tangled, curly hair, a great sense of humour, an incredible memory for what I should be doing day to day – I call her my secretary. She’s still a fussy eater, her favourite band is Simple Minds, and she gives the whole family an enormous amount of love and is extremely protective of her 15 year old brother and takes a keen interest in his developing love life. She is in Year 7 in a Special Education Unit attached to the local high school. Her teachers at school wish all their pupils were as well mannered as Natasha. Natasha never gives up and will have a go at most things.



Addendum.

This story was written in 1995. Natasha is now 32 and living at home. I will write an update of her journey from 9 to 32 years in due course.

There are now approximately 450 WS families Australia-wide and conferences were held in 1991, 2007, and recently September 2014. There are support groups in Western Australia, Victoria, New South Wales and Queensland. NSW holds an annual Sausage Sizzle picnic day the last Sunday in August every year at the Mater Dei School in Camden. There are usually 80-100 attendees, and it is a fun day where families catch up on the year’s news and form new friendships. Just today, I heard from a community nurse of a man in his 50’s who had just been diagnosed with WS. Extensive research is being conducted in partnership with Williams Syndrome Australia and Dr Melanie Porter at Macquarie University.

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 hormone 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!

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 immuno-suppressant 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.

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