Saving Jacob
Donation protected
This is Jakey. He is just 8 years old
. He has a fatal disease / There is NO cure available yet because of lack of funding for rare diseases...
But there is HOPE
It starts with YOU and ME.
Every day that goes by there is toxic waste building up in his little body. He is missing an essential enzyme that you and I have that breaks down and gets rid of waste, which leads to progressive degeneration of the central nervous system.
Hi I’m Debbie and Jacob is my little grandson. On the 31st May, 2013 our then 2 year old Jacob was diagnosed with Sanfilippo syndrome. On this day what seemed like just a mild developmental delay in speech and a few recurrent ear and throat infections suddenly turned into a horrific debilitating disease that would ruthlessly impact on Jacob’s on-going health, and severely reduce his life expectancy. Our paediatrician was in tears as he choked out Jacob’s diagnosis and prognosis. No Treatment. No Cure.
In that consultation room our lives were changed forever. One minute we had a seemingly healthy toddler and in the next minute we were given a death sentence. I had never heard of anything so ravaging to a little child, a condition so rare that there was no cure, no treatment and no hope. I read all I could and all I kept seeing ahead was suffering, pain and more suffering. I kept waking up every day for months, shaking my head and pleading with myself that is was a nightmare. I told myself that I would wake up one day and realise that it wasn’t true, surely someone had make a mistake.
Sanfilippo is a very rare genetic disorder. There was no one or thing we could blame. We were told it is a random act of nature. There are only around 50 children with Sanfilippo in Australia. Not enough for the big pharmaceutical companies to benefit from trying to find a treatment or cure.
Jacob and the other children with Sanfilippo disease are missing an enzyme for normal cellular function. This causes disrupted cell-functioning and progressive damage.
To explain in simple terms: a person has a “disposal garbage system” required to keep the body functioning properly and to sustain life. In this system this enzyme works to rid the body of toxic material build-up. Jacob is missing this essential enzyme which gets rid of toxic waste, which means it builds up in his body each and everyday and will eventually flood the brain, the heart and the body, leading to severe brain damage, heart damage and disability.These children will even lose the ability to be able to swallow and eat.
At present Jacob is mildly speech delayed but he never stops talking, and trying to converse. With Sanfilippo syndrome the child appears mildly affected until around 5 to 6 years of age when suddenly the toxic build up becomes too much. One will slowly have to watch their child fade away with infections, seizures, loss of speech, loss of the ability to walk and function. This disgusting disease will ravage their little brains, hearts and bodies until death comes, with most children passing away in their early teens.
Jacob was 2 at the time he was diagnosed. We were then told to go home and enjoy the next 5 years. We have ran from Professors to gene specialists to stem cell researchers – only to be told that there was “no hope”. How does one settle for no hope when an innocent child’s life and well-being is at stake?
Every day and night we have prayed for some brilliant person to come up with a gene therapy cure to save our Jakey. We are a family that just want the simple things in life – the safety and good health of our children.
Jacob turned 4 in April. He is a gift from God. He is the gentlest natured and happiest little fellow. One cannot help but smile when you look at him. Jacob loves life; he loves his Mum & Dad, his sisters, his family. He loves affection and cuddles and is the biggest fan of the Wiggles. He loves to play ball and run, and he can also be a little terrormite – he keeps us running!
Jacob is counting on us to get him cured. I could not live with myself should anything happen to him. I would not want to live. What would we say to his little sister Alexis (1 year old), if we can’t save him?
Research at the Nationwide Children’s Hospital in Ohio, US have discovered a cure: a gene therapy treatment that can halt this disease in its tracks. The only thing stopping these children from receiving treatment is money, and funding to bring these trials to Australia
Please help us to save our Jacob and every other child with this terrifying condition. We are so close to a cure but lack of funding prevents its approval. Too much damage is being done, and too many lives of these little angels are being lost every day while we sit and wait.
Jacob and I are counting on the community to help us beat this terrifying disease and keep our child well and alive. We are reaching out to everyone to raise the funds needed to finance Jacob’s medical needs/ access a trials/treatment/cure at an overseas location and/or further advancing clinical trials/treatment/cure reaching Australian shores so that Jacob and other Australian children will be cured/treated.
It is IMPOSSIBLE to do this alone, please help us. With your help Jacob will survive and become one of the first children to conquer this horrifying disease along with many other children. Please reach deep into your hearts and give anything you can. Whatever you have, no matter how big or how small – it all counts.
With your help we can make this happen.
God bless you and your family.
. He has a fatal disease / There is NO cure available yet because of lack of funding for rare diseases...
But there is HOPE
It starts with YOU and ME.
Every day that goes by there is toxic waste building up in his little body. He is missing an essential enzyme that you and I have that breaks down and gets rid of waste, which leads to progressive degeneration of the central nervous system.
Hi I’m Debbie and Jacob is my little grandson. On the 31st May, 2013 our then 2 year old Jacob was diagnosed with Sanfilippo syndrome. On this day what seemed like just a mild developmental delay in speech and a few recurrent ear and throat infections suddenly turned into a horrific debilitating disease that would ruthlessly impact on Jacob’s on-going health, and severely reduce his life expectancy. Our paediatrician was in tears as he choked out Jacob’s diagnosis and prognosis. No Treatment. No Cure.
In that consultation room our lives were changed forever. One minute we had a seemingly healthy toddler and in the next minute we were given a death sentence. I had never heard of anything so ravaging to a little child, a condition so rare that there was no cure, no treatment and no hope. I read all I could and all I kept seeing ahead was suffering, pain and more suffering. I kept waking up every day for months, shaking my head and pleading with myself that is was a nightmare. I told myself that I would wake up one day and realise that it wasn’t true, surely someone had make a mistake.
Sanfilippo is a very rare genetic disorder. There was no one or thing we could blame. We were told it is a random act of nature. There are only around 50 children with Sanfilippo in Australia. Not enough for the big pharmaceutical companies to benefit from trying to find a treatment or cure.
Jacob and the other children with Sanfilippo disease are missing an enzyme for normal cellular function. This causes disrupted cell-functioning and progressive damage.
To explain in simple terms: a person has a “disposal garbage system” required to keep the body functioning properly and to sustain life. In this system this enzyme works to rid the body of toxic material build-up. Jacob is missing this essential enzyme which gets rid of toxic waste, which means it builds up in his body each and everyday and will eventually flood the brain, the heart and the body, leading to severe brain damage, heart damage and disability.These children will even lose the ability to be able to swallow and eat.
At present Jacob is mildly speech delayed but he never stops talking, and trying to converse. With Sanfilippo syndrome the child appears mildly affected until around 5 to 6 years of age when suddenly the toxic build up becomes too much. One will slowly have to watch their child fade away with infections, seizures, loss of speech, loss of the ability to walk and function. This disgusting disease will ravage their little brains, hearts and bodies until death comes, with most children passing away in their early teens.
Jacob was 2 at the time he was diagnosed. We were then told to go home and enjoy the next 5 years. We have ran from Professors to gene specialists to stem cell researchers – only to be told that there was “no hope”. How does one settle for no hope when an innocent child’s life and well-being is at stake?
Every day and night we have prayed for some brilliant person to come up with a gene therapy cure to save our Jakey. We are a family that just want the simple things in life – the safety and good health of our children.
Jacob turned 4 in April. He is a gift from God. He is the gentlest natured and happiest little fellow. One cannot help but smile when you look at him. Jacob loves life; he loves his Mum & Dad, his sisters, his family. He loves affection and cuddles and is the biggest fan of the Wiggles. He loves to play ball and run, and he can also be a little terrormite – he keeps us running!
Jacob is counting on us to get him cured. I could not live with myself should anything happen to him. I would not want to live. What would we say to his little sister Alexis (1 year old), if we can’t save him?
Research at the Nationwide Children’s Hospital in Ohio, US have discovered a cure: a gene therapy treatment that can halt this disease in its tracks. The only thing stopping these children from receiving treatment is money, and funding to bring these trials to Australia
Please help us to save our Jacob and every other child with this terrifying condition. We are so close to a cure but lack of funding prevents its approval. Too much damage is being done, and too many lives of these little angels are being lost every day while we sit and wait.
Jacob and I are counting on the community to help us beat this terrifying disease and keep our child well and alive. We are reaching out to everyone to raise the funds needed to finance Jacob’s medical needs/ access a trials/treatment/cure at an overseas location and/or further advancing clinical trials/treatment/cure reaching Australian shores so that Jacob and other Australian children will be cured/treated.
It is IMPOSSIBLE to do this alone, please help us. With your help Jacob will survive and become one of the first children to conquer this horrifying disease along with many other children. Please reach deep into your hearts and give anything you can. Whatever you have, no matter how big or how small – it all counts.
With your help we can make this happen.
God bless you and your family.
Organizer
Debbie Chalmers
Organizer
Saint Clair, NSW