Charlize and Issac, Propionic Acidemia, Liver Transplant
Sydney, Australia
Before our twins arrived we had just realised our dream of moving onto an acreage property on the outskirts of Sydney, we upsized our car and were ready to expand our family. We were completely and utterly ecstatic when I fell pregnant and even more so, when we received the news that we were expecting twins!!!
Our eldest daughter Amelia who was 3 ½ at the time was so proud to be their big sister and she was given the honour of naming them, Isaac and Charlize. They looked so perfect, everyone loved them instantly and our family felt complete.
Our twins arrived at almost 38 weeks gestation via planned c-section, I got to have a quick look at our beautiful twins before they were quickly whisked away to the special care nursery to be treated for hypoglycaemia and hypothermia where they remained for the next 24 hours. During their first few days of life I always wondered why Isaac looked more awake than Charlize and fed more often than Charlize. I was a little worried that Charlize didn’t look quite as interested in feeding and didn’t feed for as long. The nurses shrugged off my thoughts as just a difference in personalities.
Our twins were discharged from hospital on day 4, with instructions to feed Charlize more frequently as she had lost weight, 8 grams less than the allowable limit but they let us go anyway. However, things quickly changed the following night, Isaac woke up like clockwork for his feed, but Charlize did not. I picked up Charlize, she was completely cold and grey and she wouldn’t wake up or move.
I was terrified. We rushed her to our local hospital but no one at our local hospital knew what was wrong with her and worse still, her twin brother Isaac was getting sick in the same way. The doctors had no answers until they received Isaac & Charlize’s Newborn Screening results a few days later. They both tested positive to a Metabolic Disease called Propionic Acidemia.
With these results, Isaac & Charlize were immediately transferred to The Children’s Hospital at Westmead for urgent specialist treatment. We were shocked when we were brought into their room to find our tiny babies were connected to so many lines and machines and there were so many people working on them. The Senior Staff Metabolic Specialist looked very concerned. He told us that he needed to take us ‘somewhere quiet to talk’.
Our hearts just sank, knowing that this situation was very serious.
I had Googled the condition and I begged him to tell us that everything I read was not true. I begged him, to tell me that this disease is curable or at the very least treatable. It was just so heartbreaking to hear him say…’There Is No Cure’.
The doctor told us how sick they both were, he asked us if we would like to christen them that night as it was possible that Charlize, especially was so sick that she may not make it through to the morning. During this meeting we were told there were less than a dozen children living with this disease in Australia.
I remember being so upset and even angry as reality soon sank in, that there was no cure or treatment that will fix their problem. I was angry that all medicine could offer was to treat their symptoms as they came and they would have to fight to be here every day and perhaps they were just born at the wrong time in medical history.
During their time in hospital we were coached on how to manage our twins with their disorder. They both required a very low protein diet, special formulas and medicines for life. They required feeding every 3 hours day and night as we could not allow their body’s to fast. Running out of energy would send them into a metabolic crisis which could damage all their organs and could lead to coma and death. Although Charlize was the sickest at birth, it was Isaac who required the most hospital admissions. We averaged 1-2 hospital admissions every month, with each admission their appetite would diminish and take a few weeks to regain.
By 12 months of age, they began to refuse all of their food and special formula and eventually relied on a Nasal Gastric Feeding tube for all of their nutrition. The workload was immense. When they were unwell they had to be fed their unwell formula every 2 hours day and night. It took 30 minutes to feed each one and required over 30 bottles to be prepared and cleaned per day. There was just no time for sleep.
Despite following all our instructions, when Isaac was only 9 months old, he suddenly received damage to his brain. Lesions were found on his Basal Ganglia in his brain (the area which controls movement). Isaac lost most of his muscle tone and became floppy and un-coordinated. He lost a lot of his skills, was no longer learning any new skills and he could not gain any weight even with a high calorie formula.
A liver transplant was then advised as a last resort treatment option. Large amounts of the missing enzyme that causes Propionic Acidemia is located in the liver, so a liver transplant from a new donor liver will help them to have a more normal life and was their best chance survival.
After eight months of waiting, Isaac received his transplant. The next day he woke up, and his liver function was absolutely perfect. He did have many unexpected complications and further surgeries while he was in ICU but once he got to the liver ward, we saw changes in him straight away. He was a brand new boy, he was learning so quickly, he could understand what we were saying, looked less ‘foggy’, started saying some big words like ‘dinosaur’ where weeks prior he could only say ‘mumma’. He developed a healthy appetite and began eating food and even stealing our food that we were eating. Isaac was feeling on top of the world and was loving his new life.
Isaac was discharged after 6 weeks recovering in hospital, just in time for Christmas. We had the best Christmas ever, Isaac had his brand new life ahead of him and we were so excited.
Isaac was home from hospital for less than a month when he developed a temperature. He was rushed to hospital where he deteriorated quickly and went into cardiac arrest. Isaac had an overwhelming mass bacterial infection and went into septic shock.
It was completely unfathomable to be told that our little Zaccy, who had the biggest, most beautiful eyes, who would light up a room with his cheeky smile, infectious laugh and enormous sense of humour was not going to survive. Our precious little Isaac passed away in our arms on 23rd January 2017.
As you can imagine, it was such an impossible decision for us to then agree to still subject Charlize to a liver transplant after losing our Isaac. We were devastated that there were just were no other treatment options available for her and she was susceptible to brain damage just like her twin brother.
I wanted to do everything I possibly could, to turn our story around and do whatever I could to help create change for future generations of children born with Propionic Acidemia. I wanted to save Charlize’s liver and push for research here in Australia.
I reached out to centres in America and next door to our hospital, at the Children’s Medical Research Institute. I wanted them to take Charlize’s native liver when she received her transplant, in the hope that it could be used in the future, for gene therapy on Propionic Acidemia.
After reaching out to Professor Ian Alexander at CMRI, he understood my desire and need, to help create change for children born with this disease. He honoured my wish to eternally preserve Charlize’s liver for future research.
After months of waiting for “The Call’ that would give Charlize her new liver and life, I was also making my own special calls on the way to hospital, ensuring that everything was in place for Charlize’s native liver to be taken and preserved. The research was just so important to me.
Unfortunately, Charlize rejected her new liver after just 4 months, she urgently needed a 2nd liver transplant. Charlize received her second liver transplant in March last year, at the time she was in liver failure and her life was saved once again and just in time. Somehow with the grace of God, with her fighting spirit and her twin brother Isaac watching over her…. she made it!
Later last year, I was so overwhelmed, when I was told that CMRI were already working on gene therapy for Propionic Acidemia, using Charlize’s liver cells.
Going into this, I really didn’t expect any research to happen for a very long time with her liver and to hear it was happening right now, was simply incredible.
I now believe, that perhaps Charlize was born at the perfect time!
The perfect time to donate her liver to CMRI for research and the perfect time for CMRI to carry out their research as they work towards a cure.
The journey with Propionic Acidemia and Liver Transplant with our twins has been massive and relentless and absolutely rewarding in so many unexpected ways.
I dedicate myself not only to my family but to raising funds for our Metabolic Team, Liver Team and to The Children’s Medical Research Institute. We celebrate absolutely everything and give thanks for everything we have and for each day we have been given.
Charlize has now been admission free for the past four months which is a record for us. She is eating her full diet and will start pre-school in a few months after winter. She is learning so quickly and is expected to attend a main-stream primary school along-side her older sister Amelia in 2021.
Charlize is one of the faces of this years’ National ‘Jeans for Genes’ campaign, which is run by The Children’s Medical Research Institute. We often see her face as she represents Jeans for Genes and Propionic Acidemia on billboards, television interviews, in most of the national weekly magazines, newspapers and in many other media outlets.
We are so proud of our little Charlize, we just couldn’t love her anymore!!!
She astounds me every day for what she has endured and for the amazing, spirited, articulate (and bossy) little girl she is today.
Julie
Julie.gravina@bigpond.com
www.facebook.com/isaacandcharlize
From the Summer 2019 OAA Newsletter
Our eldest daughter Amelia who was 3 ½ at the time was so proud to be their big sister and she was given the honour of naming them, Isaac and Charlize. They looked so perfect, everyone loved them instantly and our family felt complete.
Our twins arrived at almost 38 weeks gestation via planned c-section, I got to have a quick look at our beautiful twins before they were quickly whisked away to the special care nursery to be treated for hypoglycaemia and hypothermia where they remained for the next 24 hours. During their first few days of life I always wondered why Isaac looked more awake than Charlize and fed more often than Charlize. I was a little worried that Charlize didn’t look quite as interested in feeding and didn’t feed for as long. The nurses shrugged off my thoughts as just a difference in personalities.
Our twins were discharged from hospital on day 4, with instructions to feed Charlize more frequently as she had lost weight, 8 grams less than the allowable limit but they let us go anyway. However, things quickly changed the following night, Isaac woke up like clockwork for his feed, but Charlize did not. I picked up Charlize, she was completely cold and grey and she wouldn’t wake up or move.
I was terrified. We rushed her to our local hospital but no one at our local hospital knew what was wrong with her and worse still, her twin brother Isaac was getting sick in the same way. The doctors had no answers until they received Isaac & Charlize’s Newborn Screening results a few days later. They both tested positive to a Metabolic Disease called Propionic Acidemia.
With these results, Isaac & Charlize were immediately transferred to The Children’s Hospital at Westmead for urgent specialist treatment. We were shocked when we were brought into their room to find our tiny babies were connected to so many lines and machines and there were so many people working on them. The Senior Staff Metabolic Specialist looked very concerned. He told us that he needed to take us ‘somewhere quiet to talk’.
Our hearts just sank, knowing that this situation was very serious.
I had Googled the condition and I begged him to tell us that everything I read was not true. I begged him, to tell me that this disease is curable or at the very least treatable. It was just so heartbreaking to hear him say…’There Is No Cure’.
The doctor told us how sick they both were, he asked us if we would like to christen them that night as it was possible that Charlize, especially was so sick that she may not make it through to the morning. During this meeting we were told there were less than a dozen children living with this disease in Australia.
I remember being so upset and even angry as reality soon sank in, that there was no cure or treatment that will fix their problem. I was angry that all medicine could offer was to treat their symptoms as they came and they would have to fight to be here every day and perhaps they were just born at the wrong time in medical history.
During their time in hospital we were coached on how to manage our twins with their disorder. They both required a very low protein diet, special formulas and medicines for life. They required feeding every 3 hours day and night as we could not allow their body’s to fast. Running out of energy would send them into a metabolic crisis which could damage all their organs and could lead to coma and death. Although Charlize was the sickest at birth, it was Isaac who required the most hospital admissions. We averaged 1-2 hospital admissions every month, with each admission their appetite would diminish and take a few weeks to regain.
By 12 months of age, they began to refuse all of their food and special formula and eventually relied on a Nasal Gastric Feeding tube for all of their nutrition. The workload was immense. When they were unwell they had to be fed their unwell formula every 2 hours day and night. It took 30 minutes to feed each one and required over 30 bottles to be prepared and cleaned per day. There was just no time for sleep.
Despite following all our instructions, when Isaac was only 9 months old, he suddenly received damage to his brain. Lesions were found on his Basal Ganglia in his brain (the area which controls movement). Isaac lost most of his muscle tone and became floppy and un-coordinated. He lost a lot of his skills, was no longer learning any new skills and he could not gain any weight even with a high calorie formula.
A liver transplant was then advised as a last resort treatment option. Large amounts of the missing enzyme that causes Propionic Acidemia is located in the liver, so a liver transplant from a new donor liver will help them to have a more normal life and was their best chance survival.
After eight months of waiting, Isaac received his transplant. The next day he woke up, and his liver function was absolutely perfect. He did have many unexpected complications and further surgeries while he was in ICU but once he got to the liver ward, we saw changes in him straight away. He was a brand new boy, he was learning so quickly, he could understand what we were saying, looked less ‘foggy’, started saying some big words like ‘dinosaur’ where weeks prior he could only say ‘mumma’. He developed a healthy appetite and began eating food and even stealing our food that we were eating. Isaac was feeling on top of the world and was loving his new life.
Isaac was discharged after 6 weeks recovering in hospital, just in time for Christmas. We had the best Christmas ever, Isaac had his brand new life ahead of him and we were so excited.
Isaac was home from hospital for less than a month when he developed a temperature. He was rushed to hospital where he deteriorated quickly and went into cardiac arrest. Isaac had an overwhelming mass bacterial infection and went into septic shock.
It was completely unfathomable to be told that our little Zaccy, who had the biggest, most beautiful eyes, who would light up a room with his cheeky smile, infectious laugh and enormous sense of humour was not going to survive. Our precious little Isaac passed away in our arms on 23rd January 2017.
As you can imagine, it was such an impossible decision for us to then agree to still subject Charlize to a liver transplant after losing our Isaac. We were devastated that there were just were no other treatment options available for her and she was susceptible to brain damage just like her twin brother.
I wanted to do everything I possibly could, to turn our story around and do whatever I could to help create change for future generations of children born with Propionic Acidemia. I wanted to save Charlize’s liver and push for research here in Australia.
I reached out to centres in America and next door to our hospital, at the Children’s Medical Research Institute. I wanted them to take Charlize’s native liver when she received her transplant, in the hope that it could be used in the future, for gene therapy on Propionic Acidemia.
After reaching out to Professor Ian Alexander at CMRI, he understood my desire and need, to help create change for children born with this disease. He honoured my wish to eternally preserve Charlize’s liver for future research.
After months of waiting for “The Call’ that would give Charlize her new liver and life, I was also making my own special calls on the way to hospital, ensuring that everything was in place for Charlize’s native liver to be taken and preserved. The research was just so important to me.
Unfortunately, Charlize rejected her new liver after just 4 months, she urgently needed a 2nd liver transplant. Charlize received her second liver transplant in March last year, at the time she was in liver failure and her life was saved once again and just in time. Somehow with the grace of God, with her fighting spirit and her twin brother Isaac watching over her…. she made it!
Later last year, I was so overwhelmed, when I was told that CMRI were already working on gene therapy for Propionic Acidemia, using Charlize’s liver cells.
Going into this, I really didn’t expect any research to happen for a very long time with her liver and to hear it was happening right now, was simply incredible.
I now believe, that perhaps Charlize was born at the perfect time!
The perfect time to donate her liver to CMRI for research and the perfect time for CMRI to carry out their research as they work towards a cure.
The journey with Propionic Acidemia and Liver Transplant with our twins has been massive and relentless and absolutely rewarding in so many unexpected ways.
I dedicate myself not only to my family but to raising funds for our Metabolic Team, Liver Team and to The Children’s Medical Research Institute. We celebrate absolutely everything and give thanks for everything we have and for each day we have been given.
Charlize has now been admission free for the past four months which is a record for us. She is eating her full diet and will start pre-school in a few months after winter. She is learning so quickly and is expected to attend a main-stream primary school along-side her older sister Amelia in 2021.
Charlize is one of the faces of this years’ National ‘Jeans for Genes’ campaign, which is run by The Children’s Medical Research Institute. We often see her face as she represents Jeans for Genes and Propionic Acidemia on billboards, television interviews, in most of the national weekly magazines, newspapers and in many other media outlets.
We are so proud of our little Charlize, we just couldn’t love her anymore!!!
She astounds me every day for what she has endured and for the amazing, spirited, articulate (and bossy) little girl she is today.
Julie
Julie.gravina@bigpond.com
www.facebook.com/isaacandcharlize
From the Summer 2019 OAA Newsletter