Isabelles Journey
Donation protected
My name is Isabelle, I was born in January 2018 and a day after being born I was admitted to the special care baby unit in my local hospital with low blood sugar and temperature problems, I also had trouble feeding, I had trouble feeding from a bottle and was fed via a feeding tube for the first week of my life, I was in SCBU for 11 days before I was allowed home.
Since being allowed home I have always had trouble with feeding and have struggled to put weight on. At three months old after starting to lose weight my parents took the decision to take me into the A & E department at Birmingham Children's hospital rather than wait for months and months for appointments with various specialists, I was admitted the same night and investigations started into why I was not gaining weight and struggling to feed.
I had various blood tests along with ultrasound scans of my brain, abdomen (where it was discovered I have 2 spleens, lucky me!) and x rays to my spine (I was found to have a curved spine when examined), I also had appointments with dieticians and speech & language therapists
Everything came back clear with the exception of some blood tests which showed I had elevated liver enzyme function and an abnormality with my very long chain fatty acid levels which caused my doctors to suspect a condition called Zellweger Spectrum Disorder or to give its full name, Peroxisomal Biogenesis Disorder, further blood tests along with and examination by a consultant from the metabolic team confirmed this diagnosis
Zellweger Spectrum Disorder has many symptoms including hearing loss, vision loss, hypotonia (low muscle tone) failure to thrive, it also affects brain development and can cause seizures / epilepsy as the disease progresses as well as liver failure and breathing problems. It is also incredibly rare, affecting approx. 1 in 50000 live births
I failed my newborn hearing test and was sent for further investigations (before my Zellweger's diagnosis) which revealed I have moderate to severe hearing loss, since my diagnosis my doctors have found I have some sight loss, hypotonia meaning I cant support my own head and my windpipe is floppy meaning I have to work harder to breathe, I am now fed via a tube as it is expected that eventually I will not be able to swallow properly and it will be too dangerous to feed from a bottle or eat solids, I am also developmentally delayed and I get very irritable and cry a lot.
My doctors don't yet know how severe my condition is as they are waiting on results from my DNA to find out what cells are affected, but it is generally felt that as I have presented with so many symptoms at such a young age I probably am quite a severe case.
Zellweger's can not be cured, my symptoms can be treated to make me more comfortable but ultimately it is a life limiting disease and the average life expectancy is 1 - 2 years old.
I have set a modest target but I am hoping to raise much more than this so please feel free to donate even if the target has been reached! money raised will help go towards extra costs involved in looking after me, making memories with my parents and sensory toys (I struggle to see and hear but I love touch!) I would love to raise enough so that my Daddy can afford to have enough time off work to stay at home and look after me and make the most of the short time we have together.
Thank you
Isabelle Grace Cowley aged 14 weeks
Since being allowed home I have always had trouble with feeding and have struggled to put weight on. At three months old after starting to lose weight my parents took the decision to take me into the A & E department at Birmingham Children's hospital rather than wait for months and months for appointments with various specialists, I was admitted the same night and investigations started into why I was not gaining weight and struggling to feed.
I had various blood tests along with ultrasound scans of my brain, abdomen (where it was discovered I have 2 spleens, lucky me!) and x rays to my spine (I was found to have a curved spine when examined), I also had appointments with dieticians and speech & language therapists
Everything came back clear with the exception of some blood tests which showed I had elevated liver enzyme function and an abnormality with my very long chain fatty acid levels which caused my doctors to suspect a condition called Zellweger Spectrum Disorder or to give its full name, Peroxisomal Biogenesis Disorder, further blood tests along with and examination by a consultant from the metabolic team confirmed this diagnosis
Zellweger Spectrum Disorder has many symptoms including hearing loss, vision loss, hypotonia (low muscle tone) failure to thrive, it also affects brain development and can cause seizures / epilepsy as the disease progresses as well as liver failure and breathing problems. It is also incredibly rare, affecting approx. 1 in 50000 live births
I failed my newborn hearing test and was sent for further investigations (before my Zellweger's diagnosis) which revealed I have moderate to severe hearing loss, since my diagnosis my doctors have found I have some sight loss, hypotonia meaning I cant support my own head and my windpipe is floppy meaning I have to work harder to breathe, I am now fed via a tube as it is expected that eventually I will not be able to swallow properly and it will be too dangerous to feed from a bottle or eat solids, I am also developmentally delayed and I get very irritable and cry a lot.
My doctors don't yet know how severe my condition is as they are waiting on results from my DNA to find out what cells are affected, but it is generally felt that as I have presented with so many symptoms at such a young age I probably am quite a severe case.
Zellweger's can not be cured, my symptoms can be treated to make me more comfortable but ultimately it is a life limiting disease and the average life expectancy is 1 - 2 years old.
I have set a modest target but I am hoping to raise much more than this so please feel free to donate even if the target has been reached! money raised will help go towards extra costs involved in looking after me, making memories with my parents and sensory toys (I struggle to see and hear but I love touch!) I would love to raise enough so that my Daddy can afford to have enough time off work to stay at home and look after me and make the most of the short time we have together.
Thank you
Isabelle Grace Cowley aged 14 weeks
Organizer
Ryan Cowley
Organizer
