Rafael's Treatment & Research Fund
Donation protected
On September 26th 2014 Ana and I went to hospital expecting our second son (Rafael) to be born via elective caesarean section.
Ana had a healthy pregnancy and we didn’t think anything would go wrong…
Within seconds of his birth we realised that something wasn’t right.
Our new born son wasn’t moving, crying or breathing.
The emergency CRASH team were immediately called to resuscitate him.
Seconds passed like hours and panic quickly descended upon us both.
Is our son OK? Will he survive? Please help him.
To our relief, Rafael was successfully resuscitated and his colour started to improve, but he still hadn’t made a sound, nor had he moved a millimetre.
He was transferred to the intensive care ward where a team of 10 doctors and nurses frantically worked to clear Rafael’s airway and give him breathing support via a machine.
Is this actually happening? Is this real life?
In this moment I realised that our lives had changed forever. This was to be the start of a life-long struggle and our biggest ever test.
In the first few days and weeks, we didn’t know what was going on or what to expect.
All we knew was that Rafael wasn’t moving as he should be, needed help with his breathing, had to be fed via a tube and suffered from terrible reflux.
His breathing rate was 4 times faster than normal and his heart rate frequently exceeded 200 beats per minute as he fought for his life. His clothing had to be changed 3 times a day as it was often soaking with sweat.
In his first 2 weeks of life, the doctors performed numerous blood tests, MRI scans, EEG tests, EMG tests, spinal lumbar punctures and muscle biopsies to determine what was wrong. Why was our son not moving? Why was he so weak?
All the while, we prayed and hoped for a miracle, but feared the worst.
It was at this time that we decided on a name for our son. I had intended to name him after my late father, Nicolas, who had suddenly and tragically passed away just 10 months before at my home. He was my best friend and a fantastic man, but naming my son after my late father was too painful and didn’t seem right in the circumstances.
We turned to our faith and decided to call our son Rafael, as the name meant ‘God’s healer’ and ‘God heals’.
After 3 months in intensive care we were told that Rafael suffered from an extremely rare muscle weakness condition known as Congenital Fibre Type Disproportion Myopathy, for which there is no cure. His case was severe and the prognosis was unclear. There are only approximately 10 individuals in the UK that have been diagnosed with his specific CFTD Myopathy. We later discovered that his myopathy was caused by a mutation in his RYR1 gene.
In the following month, we came to terms with the diagnosis and prepared for our new life. Having spent 4 long months in intensive care, we were finally discharged for home in January with much trepidation.
We quickly had to adapt to our changing circumstances which began with developing the many nursing skills required to care for Rafael’s complex needs from home.
Tube feeding techniques, ventilator settings, airway management, secretion clearing, intensive physiotherapy and emergency CPR became a part of our vocabulary and took over our daily lives. Any ‘problems’ we had before Rafael’s birth had now been replaced by one: How can we make our innocent son better?
In the months that followed, Rafael demonstrated his courage and tremendous will to live on numerous occasions. Despite multiple chest infections, collapsed lungs, further surgical procedures and several hospital admissions, Rafael defied the doctors, generally responded well to our home physiotherapy programme and gradually became stronger.
He is now nearly 2 and can sit unassisted although he is still ventilated at night and is a long way from being able to walk or eat orally.
Although we remain hopeful for the future and will continue to do our best for Rafael in our daily struggle with his disability, we realise that an effective treatment is many years, if not decades away.
The reality is that the pharmaceutical industry, like everything else, is a business and when dealing with rare diseases, the return on investment is so low that research funding is usually directed elsewhere.
So…
I have decided to start this Go Fund Me page in honour of my incredibly courageous and adorable son, with all money raised going towards funding research and treatments for Rafael and the many others like him.
This year, I have attended medical conferences in Amsterdam, Frankfurt and Washington DC in the pursuit of finding effective treatments and have connected with some of the world’s leading experts into our son’s condition.
I often dream that Rafael is able to walk. I hope to make this dream a reality with your help.
To that end, I have decided to embark on a 150 kilometre fundraising ‘walk’ of my own which will take place over a 7 day period in September, from the North of Portugal to the town of Santiago in Northern Spain. Gulp! This pilgrimage is known as the Camino de Santiago and I will be accompanied by my sisters Marilyn and Annabelle, my brother-in-law Joe and my niece Nicole.
I hope that our reality has struck a chord with you and that you will find it in your heart to donate to this worthwhile cause. Your donation would mean so much to us and we would be eternally grateful for your support.
Thank you.
JP, Ana, Lucas & Rafael.
Please share and help spread the word!
Ana had a healthy pregnancy and we didn’t think anything would go wrong…
Within seconds of his birth we realised that something wasn’t right.
Our new born son wasn’t moving, crying or breathing.
The emergency CRASH team were immediately called to resuscitate him.
Seconds passed like hours and panic quickly descended upon us both.
Is our son OK? Will he survive? Please help him.
To our relief, Rafael was successfully resuscitated and his colour started to improve, but he still hadn’t made a sound, nor had he moved a millimetre.
He was transferred to the intensive care ward where a team of 10 doctors and nurses frantically worked to clear Rafael’s airway and give him breathing support via a machine.
Is this actually happening? Is this real life?
In this moment I realised that our lives had changed forever. This was to be the start of a life-long struggle and our biggest ever test.
In the first few days and weeks, we didn’t know what was going on or what to expect.
All we knew was that Rafael wasn’t moving as he should be, needed help with his breathing, had to be fed via a tube and suffered from terrible reflux.
His breathing rate was 4 times faster than normal and his heart rate frequently exceeded 200 beats per minute as he fought for his life. His clothing had to be changed 3 times a day as it was often soaking with sweat.
In his first 2 weeks of life, the doctors performed numerous blood tests, MRI scans, EEG tests, EMG tests, spinal lumbar punctures and muscle biopsies to determine what was wrong. Why was our son not moving? Why was he so weak?
All the while, we prayed and hoped for a miracle, but feared the worst.
It was at this time that we decided on a name for our son. I had intended to name him after my late father, Nicolas, who had suddenly and tragically passed away just 10 months before at my home. He was my best friend and a fantastic man, but naming my son after my late father was too painful and didn’t seem right in the circumstances.
We turned to our faith and decided to call our son Rafael, as the name meant ‘God’s healer’ and ‘God heals’.
After 3 months in intensive care we were told that Rafael suffered from an extremely rare muscle weakness condition known as Congenital Fibre Type Disproportion Myopathy, for which there is no cure. His case was severe and the prognosis was unclear. There are only approximately 10 individuals in the UK that have been diagnosed with his specific CFTD Myopathy. We later discovered that his myopathy was caused by a mutation in his RYR1 gene.
In the following month, we came to terms with the diagnosis and prepared for our new life. Having spent 4 long months in intensive care, we were finally discharged for home in January with much trepidation.
We quickly had to adapt to our changing circumstances which began with developing the many nursing skills required to care for Rafael’s complex needs from home.
Tube feeding techniques, ventilator settings, airway management, secretion clearing, intensive physiotherapy and emergency CPR became a part of our vocabulary and took over our daily lives. Any ‘problems’ we had before Rafael’s birth had now been replaced by one: How can we make our innocent son better?
In the months that followed, Rafael demonstrated his courage and tremendous will to live on numerous occasions. Despite multiple chest infections, collapsed lungs, further surgical procedures and several hospital admissions, Rafael defied the doctors, generally responded well to our home physiotherapy programme and gradually became stronger.
He is now nearly 2 and can sit unassisted although he is still ventilated at night and is a long way from being able to walk or eat orally.
Although we remain hopeful for the future and will continue to do our best for Rafael in our daily struggle with his disability, we realise that an effective treatment is many years, if not decades away.
The reality is that the pharmaceutical industry, like everything else, is a business and when dealing with rare diseases, the return on investment is so low that research funding is usually directed elsewhere.
So…
I have decided to start this Go Fund Me page in honour of my incredibly courageous and adorable son, with all money raised going towards funding research and treatments for Rafael and the many others like him.
This year, I have attended medical conferences in Amsterdam, Frankfurt and Washington DC in the pursuit of finding effective treatments and have connected with some of the world’s leading experts into our son’s condition.
I often dream that Rafael is able to walk. I hope to make this dream a reality with your help.
To that end, I have decided to embark on a 150 kilometre fundraising ‘walk’ of my own which will take place over a 7 day period in September, from the North of Portugal to the town of Santiago in Northern Spain. Gulp! This pilgrimage is known as the Camino de Santiago and I will be accompanied by my sisters Marilyn and Annabelle, my brother-in-law Joe and my niece Nicole.
I hope that our reality has struck a chord with you and that you will find it in your heart to donate to this worthwhile cause. Your donation would mean so much to us and we would be eternally grateful for your support.
Thank you.
JP, Ana, Lucas & Rafael.
Please share and help spread the word!
Organizer
Ana Borges Cutajar
Organizer