Please help Isla’s battle with Battens Disease
$42,143 raised
TARGET $500,000
Please support this cause
$
AUD
About
The Hunter Tribe driven by our love for each other and our littlest member!
Hello, we are Harley and Nikita Hunter, together we have three beautiful children: a six-year-old boy Harry, a three-year-old boy Paddy and their beautiful little sister Isla, who is two!
Where it all began..
I became concerned about our little girl, Isla when she hit 18-20 months and her development was very delayed. She had hit her milestones rather quickly up until that point - she rolled, sat up, crawled, walked, said a few words, was eating independently, all the "normal" things.
I saw a few doctors before I was taken seriously. On my final visit, I pleaded with an amazing physician who finally listened and actually heard me, and fast-tracked our paediatric appointment from July 2021 to early March 2021. All the necessary tests were conducted over a week. All genetic testing results were going to take up to eight weeks and, in the meantime, all other tests were coming back "normal".
Fast forward a few weeks and Isla was regularly in and out of hospital. She had lost the ability to walk, stand, and was constantly lethargic. She'd stopped chewing, was choking, was back on puree foods, and her general health had deteriorated very quickly.
As parents we were mortified with our daughter's sudden decline. When speaking with paediatricians, a few, well-known "conditions" came to the surface but not one that outlined the whole picture.
Isla's determination, resilience and strength outweighed all her struggles during this time. I admired her passion and was blown away by her strength as she pushed herself to walk, each day better than the next. Her smile came back and she began to say the words she knew again.
We were then contacted by our paediatrician telling us the metabolic unit at the Royal Children's Hospital wanted to see us immediately due to an abnormality with Isla's bloods. After lots of research I decided to change her diet completely and focus on all her cans instead of her can'ts.
But…
Our worst nightmare soon became our reality
The Royal Children’s hospital 16/4/21 a day we will never forgot..
Nothing could prepare us for those words we were about to hear. Nothing can ever prepare you for the hurt and pain inflicted by those words. As I sat at the Royal Children's with clammy palms, clenching my beautiful little angel ever so tightly, I instantly became in complete denial about the words flowing out of the doctors' mouths.
Battens Disease, A rare genetic imprinting disorder that will profoundly affect her life in every aspect. This disorder will cause Isla to struggle with developmental delay, speech impairment, painful seizures, vision impairment and loss, problems with thinking, movement and balance! It also means Isla will always require around the clock care, and eventually, palliative care, and there was no cure!
WHAT IS BATTENS DISEASE or CLN1?
A neurological disease, this disease is caused by an absent or defective copy of PPT1 from both mum and dads genes! This defect interferes with the ability for her body to get rid of waste and toxins that over time build up in her tiny body. These cells are then affecting and killing off her nervous system and brain cells. Batten Disease, better known as childhood dementia. One in 100,000 children.
The weight was extremely heavy..
Our life together as a family and the life we pictured for our little girl was literally ripped away from us, it was a pain like no other, being told there was nothing that could be done, was like sticking the knife in deeper, and as I become numb and in denial about the words I was hearing, they soon came rushing to the surface when i see my husband unconscious on the doctors floor! That’s his baby girl he had always dreamed of walking down the isle! The words she once said would only be a memory and there would be no more, no more steps, or the sound of pita pata running throughout the house giggling with her brothers, as they bring mud in on their boots on a cloudy day, no singing, and dancing which she loved so much!
I truly longed for her!
When Isla was in my tummy I longed for the same relationship I had with my mum, filled with girls trips, putting her in a Deb dress, and watching her flourish in ways I knew she could have, but all of that was taken away on that grim day!
Make her comfortable
Wasn’t a statement I took lightly, to me being told to make your child “comfortable”, was like telling me to just give up! it is what it is and nothing else could be done, she would be 100% dependent on us, and her young life would be taken away all before the age of six! I couldn’t and wouldn’t accept this as her her story, there had to be more to tell!
Our Mission
I'm a big believer that everyone has a story to tell. When Harley and I started our beautiful family I believed all our moon babies had their own paths and stories to tell. They would right their own wrongs, follow their own passion and dreams, do good and make their journey to self-discovery. Isla is so incredibly loved, she fulfilled our family perfectly!We are determined to fight for her chance to make that journey and fulfil her own path! We refuse to believe this is how it’s all going to play out for Isla and our family, and we won’t stop fighting with her to give her that chance!
The Battens Community
An amazing community of people dedicated to making a difference, friends and family of children living with BATTENS DISEASE, thousands of dollars raised for research. From Taylors tale, Haileys Hero’s to bounce for batten the hero’s themselves and their selfless families who continue to create awareness, teams of scientists and doctors from all over the world, Have been able to drastically improve lifespan and have also effectively halted the CLN1 disease in mice using a number of different approaches. We believe treatment and a cure will be available for all battens children in the future, we hope sooner rather than later!
Clinical Trail
A number of clinical trials are currently taking place, for all batten disease types, and sub types, the data that has been shared throughout the world has been astonishing! There are trials about to commence for CLN1 Patients like Isla! To seek help that Isla needs, we will need to relocate overseas/Canada for a while, the timing is still yet to be confirmed, as the trial itself goes for 3 years! We have so much hope that if we are able to get into this trial as soon as possible, while Isla’s still little, maybe her condition will get better, maybe it could halt things and give a new meaning of life. We are confident that if given the chance in a world first gene therapy trial, Isla’s determination and resilience will give her the tools she needs to walk and talk again, and maybe even happy wiggle again. Hearing our beautiful girl say ‘muuummm’ or ‘dad dad’ again continues to be our reason and drive!
Why we still have HOPE!
A company called TAYSHA has given us hope! “We use an AAV9 capsid to deliver therapeutic genes engineered to replace a mutated gene, enhance the expression of a silenced gene or decrease the expression of a gene. AAV9 has a unique ability to cross the blood-brain barrier, making it an ideal vector for gene therapies in the CNS, and since its discovery more than 50 years ago, AAV has been one of the most well-studied vehicles for the delivery of gene therapies.”
“We use intrathecal administration, which directly delivers our gene therapies to the cerebrospinal fluid to facilitate optimal biodistribution and cell transduction within the central nervous system. The procedure is routinely performed in an outpatient setting, and in comparison to intravenous administration, it allows for a lower dose of the therapy.” The Australian Government Aren’t able to help our journey at all! Neither financially or even speak on her behalf, and support our family! Isla is the only child with infantile battens disease in Australia who would be remotely eligible for this trial!
How you can make a difference!
This whole experience has been emotionally, mentally, and even physically draining for our family, if your a parent reading this I bet you can feel our pain without feeling it! We have considered asking for the necessary help we need over and over again! Your support would mean the world to us, wether that be a donation of any size, a share, or help to generate a conversation about rare diseases and Isla’s name!
Where it all goes
We are trying to raise funding for accommodation, Visas, Medical visas, flights, insurance, physio, therapy, OT, speech therapy, stability to relocate overseas for a while and to help us fund at least one year of stability for our family and for treatment for Isla! If, and when, we are accepted into the trial, access to the drug is free, however the data process is not, we are still unsure if we will be required to stay overseas for the whole duration or if after 12 months she can be monitored in Australia! Meanwhile unfortunately life doesn’t stand still for us nor does Isla’s need for therapy or just to live, we will continue to do everything in our power to keep up the fight!
We will continue to work with the Batten Disease community, promote fundraising to help get scientists, pharmaceuticals, and therapists, readily available for all battens children like Isla, we hope gene therapy is successful in all aspects and is able to give children like Isla a better fighting chance! And most importantly in the mean time find a cure!
Isla Rain Hunter
Her name will be her legacy not this disease. We can appreciate it’s a lot of money, but anything you can give would help us enormously in continuing that legacy for her.
I know for most of you reading this, especially parents, your heart would have sank. It's extremely painful and we understand we aren't the only ones dealing with things like this. It's hard to comprehend and completely unfair.
I know most parents will hold their children that little bit tighter tonight for that's where real beauty and wealth is felt.
Thank you so much for listening, for your kindness and for your generosity, in giving Isla a fighting chance to gene therapy, it means more than you know!
Harley and Nikita xx
Hello, we are Harley and Nikita Hunter, together we have three beautiful children: a six-year-old boy Harry, a three-year-old boy Paddy and their beautiful little sister Isla, who is two!
Where it all began..
I became concerned about our little girl, Isla when she hit 18-20 months and her development was very delayed. She had hit her milestones rather quickly up until that point - she rolled, sat up, crawled, walked, said a few words, was eating independently, all the "normal" things.
I saw a few doctors before I was taken seriously. On my final visit, I pleaded with an amazing physician who finally listened and actually heard me, and fast-tracked our paediatric appointment from July 2021 to early March 2021. All the necessary tests were conducted over a week. All genetic testing results were going to take up to eight weeks and, in the meantime, all other tests were coming back "normal".
Fast forward a few weeks and Isla was regularly in and out of hospital. She had lost the ability to walk, stand, and was constantly lethargic. She'd stopped chewing, was choking, was back on puree foods, and her general health had deteriorated very quickly.
As parents we were mortified with our daughter's sudden decline. When speaking with paediatricians, a few, well-known "conditions" came to the surface but not one that outlined the whole picture.
Isla's determination, resilience and strength outweighed all her struggles during this time. I admired her passion and was blown away by her strength as she pushed herself to walk, each day better than the next. Her smile came back and she began to say the words she knew again.
We were then contacted by our paediatrician telling us the metabolic unit at the Royal Children's Hospital wanted to see us immediately due to an abnormality with Isla's bloods. After lots of research I decided to change her diet completely and focus on all her cans instead of her can'ts.
But…
Our worst nightmare soon became our reality
The Royal Children’s hospital 16/4/21 a day we will never forgot..
Nothing could prepare us for those words we were about to hear. Nothing can ever prepare you for the hurt and pain inflicted by those words. As I sat at the Royal Children's with clammy palms, clenching my beautiful little angel ever so tightly, I instantly became in complete denial about the words flowing out of the doctors' mouths.
Battens Disease, A rare genetic imprinting disorder that will profoundly affect her life in every aspect. This disorder will cause Isla to struggle with developmental delay, speech impairment, painful seizures, vision impairment and loss, problems with thinking, movement and balance! It also means Isla will always require around the clock care, and eventually, palliative care, and there was no cure!
WHAT IS BATTENS DISEASE or CLN1?
A neurological disease, this disease is caused by an absent or defective copy of PPT1 from both mum and dads genes! This defect interferes with the ability for her body to get rid of waste and toxins that over time build up in her tiny body. These cells are then affecting and killing off her nervous system and brain cells. Batten Disease, better known as childhood dementia. One in 100,000 children.
The weight was extremely heavy..
Our life together as a family and the life we pictured for our little girl was literally ripped away from us, it was a pain like no other, being told there was nothing that could be done, was like sticking the knife in deeper, and as I become numb and in denial about the words I was hearing, they soon came rushing to the surface when i see my husband unconscious on the doctors floor! That’s his baby girl he had always dreamed of walking down the isle! The words she once said would only be a memory and there would be no more, no more steps, or the sound of pita pata running throughout the house giggling with her brothers, as they bring mud in on their boots on a cloudy day, no singing, and dancing which she loved so much!
I truly longed for her!
When Isla was in my tummy I longed for the same relationship I had with my mum, filled with girls trips, putting her in a Deb dress, and watching her flourish in ways I knew she could have, but all of that was taken away on that grim day!
Make her comfortable
Wasn’t a statement I took lightly, to me being told to make your child “comfortable”, was like telling me to just give up! it is what it is and nothing else could be done, she would be 100% dependent on us, and her young life would be taken away all before the age of six! I couldn’t and wouldn’t accept this as her her story, there had to be more to tell!
Our Mission
I'm a big believer that everyone has a story to tell. When Harley and I started our beautiful family I believed all our moon babies had their own paths and stories to tell. They would right their own wrongs, follow their own passion and dreams, do good and make their journey to self-discovery. Isla is so incredibly loved, she fulfilled our family perfectly!We are determined to fight for her chance to make that journey and fulfil her own path! We refuse to believe this is how it’s all going to play out for Isla and our family, and we won’t stop fighting with her to give her that chance!
The Battens Community
An amazing community of people dedicated to making a difference, friends and family of children living with BATTENS DISEASE, thousands of dollars raised for research. From Taylors tale, Haileys Hero’s to bounce for batten the hero’s themselves and their selfless families who continue to create awareness, teams of scientists and doctors from all over the world, Have been able to drastically improve lifespan and have also effectively halted the CLN1 disease in mice using a number of different approaches. We believe treatment and a cure will be available for all battens children in the future, we hope sooner rather than later!
Clinical Trail
A number of clinical trials are currently taking place, for all batten disease types, and sub types, the data that has been shared throughout the world has been astonishing! There are trials about to commence for CLN1 Patients like Isla! To seek help that Isla needs, we will need to relocate overseas/Canada for a while, the timing is still yet to be confirmed, as the trial itself goes for 3 years! We have so much hope that if we are able to get into this trial as soon as possible, while Isla’s still little, maybe her condition will get better, maybe it could halt things and give a new meaning of life. We are confident that if given the chance in a world first gene therapy trial, Isla’s determination and resilience will give her the tools she needs to walk and talk again, and maybe even happy wiggle again. Hearing our beautiful girl say ‘muuummm’ or ‘dad dad’ again continues to be our reason and drive!
Why we still have HOPE!
A company called TAYSHA has given us hope! “We use an AAV9 capsid to deliver therapeutic genes engineered to replace a mutated gene, enhance the expression of a silenced gene or decrease the expression of a gene. AAV9 has a unique ability to cross the blood-brain barrier, making it an ideal vector for gene therapies in the CNS, and since its discovery more than 50 years ago, AAV has been one of the most well-studied vehicles for the delivery of gene therapies.”
“We use intrathecal administration, which directly delivers our gene therapies to the cerebrospinal fluid to facilitate optimal biodistribution and cell transduction within the central nervous system. The procedure is routinely performed in an outpatient setting, and in comparison to intravenous administration, it allows for a lower dose of the therapy.” The Australian Government Aren’t able to help our journey at all! Neither financially or even speak on her behalf, and support our family! Isla is the only child with infantile battens disease in Australia who would be remotely eligible for this trial!
How you can make a difference!
This whole experience has been emotionally, mentally, and even physically draining for our family, if your a parent reading this I bet you can feel our pain without feeling it! We have considered asking for the necessary help we need over and over again! Your support would mean the world to us, wether that be a donation of any size, a share, or help to generate a conversation about rare diseases and Isla’s name!
Where it all goes
We are trying to raise funding for accommodation, Visas, Medical visas, flights, insurance, physio, therapy, OT, speech therapy, stability to relocate overseas for a while and to help us fund at least one year of stability for our family and for treatment for Isla! If, and when, we are accepted into the trial, access to the drug is free, however the data process is not, we are still unsure if we will be required to stay overseas for the whole duration or if after 12 months she can be monitored in Australia! Meanwhile unfortunately life doesn’t stand still for us nor does Isla’s need for therapy or just to live, we will continue to do everything in our power to keep up the fight!
We will continue to work with the Batten Disease community, promote fundraising to help get scientists, pharmaceuticals, and therapists, readily available for all battens children like Isla, we hope gene therapy is successful in all aspects and is able to give children like Isla a better fighting chance! And most importantly in the mean time find a cure!
Isla Rain Hunter
Her name will be her legacy not this disease. We can appreciate it’s a lot of money, but anything you can give would help us enormously in continuing that legacy for her.
I know for most of you reading this, especially parents, your heart would have sank. It's extremely painful and we understand we aren't the only ones dealing with things like this. It's hard to comprehend and completely unfair.
I know most parents will hold their children that little bit tighter tonight for that's where real beauty and wealth is felt.
Thank you so much for listening, for your kindness and for your generosity, in giving Isla a fighting chance to gene therapy, it means more than you know!
Harley and Nikita xx
Fundraising For
Isla
Funds Banked To
Isla’s saving’s
Fri, 22 Sep 2023
Anonymous
$ 10
Wed, 27 Apr 2022
Anonymous
$ 100
Wed, 27 Apr 2022
Anonymous
$ 20
SINCE Jan 2022
159
Donations
$42,143 raised
TARGET $500,000
Please support this cause
$
AUD
Fundraising For
Isla
Funds Banked To
Isla’s saving’s
SINCE Jan 2022
159
Donations
Term 2 fundraiser by St Patrick's Primary School community