A little girl who faced the impossible and defied it. Her story is the reason this website exists and the reason awareness of OTC Deficiency matters so deeply.
March 2012, and every day sinceAlyssa Loates was 8 years old. A fun-loving, caring little girl who lit up every room she walked into. In March 2012 she caught the Norovirus. At first it seemed like any other stomach bug. Vomiting, tiredness, the things every parent recognises and waits out.
It is important to say that this was not the first time her family had sought help. Alyssa had been taken to hospital many times over the years. Each time, her family's concerns were dismissed and they were sent home. The signs were there. They were not heard.
But then something changed. Alyssa started going floppy. Her speech became confused. She wasn't getting better. She was deteriorating fast.
What was happening inside Alyssa's body: Unknown to anyone at the time, Alyssa had OTC Deficiency, a rare inherited metabolic condition. When the Norovirus struck, her body entered a catabolic state, breaking down its own muscle for energy. That process flooded her blood with ammonia. With OTC Deficiency, her body had no way to clear it. The ammonia began attacking her brain.
Alyssa had seen doctors throughout her life and had been in hospital multiple times. The condition had been there all along, but it had been missed. Had basic metabolic screening been carried out, it would have been treatable. Instead, the ammonia was left to rise unchecked.
Alyssa arrived at hospital with her speech slurring and confused, visibly deteriorating in front of everyone. And then nothing happened. For around twelve hours she was left without the treatment she so desperately needed. She was screaming in agony and still nothing was done. By the time she was finally fitting and critical, precious time had already been lost.
The ammonia had caused her brain to swell so severely that it was crushing the most vital part of all, the brain stem, the region that controls her heart and lungs. She was rushed to London. An MRI was performed. The doctors gathered her family and delivered a conclusion that no parent should ever have to hear.
"The doctors concluded that she had only 72 hours to live. Her heart was stopping because of her brain. She was past critical and death was the only medical certainty."
Alyssa's brain damage was described as about as severe as it is possible to sustain. The doctors said she would not come off the ventilator. She would not move, talk, see, or hear. They told her parents that keeping her alive would only be cruel, and that the family would have to make the decision to turn off life support.
Alyssa was 8 years old.
Alyssa spent 13 days in PICU on life support, and over a month in a coma. Her family stayed by her side through every one of those days.
Then something happened that the doctors could not explain.
She began to stabilise.
The day came to remove the life support. Neurologically, it was impossible for her to breathe unaided. The doctors were certain. And then, against every medical certainty, Alyssa breathed by herself. From that day on, the doctors stopped telling her family what she would and wouldn't do. One of the country's top neurologists now calls her "her Miracle Girl."
Alyssa's recovery has been slow, painful, and ongoing. At first she could not even move her eyeballs. Gradually, with enormous courage and the support of those around her, she has been regaining some control. She can now step with two people's support and complete some tasks with assistance.
The brain injury has left her with profound disabilities. She cannot use her motor skills independently. But she is here. And she keeps fighting, every single day.
After Alyssa was sent home, her therapy was drastically reduced despite her profound needs. Her family knew this would have a devastating impact on her possible recovery and quality of life. So they fought, and they were not alone.
Strangers, communities, and charities rallied around Alyssa. Donations raised through her JustGiving page funded weekly paediatric neurological physiotherapy and private occupational therapy. The generosity of people who had never met her gave her something she deserved all along: a fighting chance.
After a year and a half of fighting, the Ombudsman ruled that there had been an injustice to Alyssa when her therapy was reduced. The Local Authority finalised her Educational Statement confirming she needs weekly physiotherapy, SALT, and fortnightly occupational therapy.
The money raised through the Tree of Hope went into improving her quality of life. It improved her motor skills, reducing her risk of brittle bones. She can now step with support. Many years have passed. She still gets what she needs. She still fights every single day.
"The most fun-loving little girl in the world, who cared for everyone, she shouldn't have had to face this. Please help raise metabolic awareness, so other children or adults never end up in my daughter's situation."
This website was first created in February 2013 by Alyssa's father, a parent determined that what happened to his daughter would not happen to another child if he could help it.
OTC Deficiency is treatable when caught in time. Alyssa's condition was missed despite multiple hospital visits. A basic metabolic screen, a simple blood test, could have changed everything.
This site exists because of Alyssa. The information gathered here is drawn from the wider medical and patient community, but the reason it was brought together in one place and shared freely on this site, is her. If it reaches one parent who recognises the symptoms. If it reaches one GP who orders the right test. If it saves one child from the same fate, then Alyssa's story will have reached further than any of us could have imagined.
She cannot read these words. But her story is here, and it will keep fighting for other children long after we are all gone.
Alyssa Loates. Our Miracle Girl. ๐
Sharing her story and this website could put the right information in front of a parent or doctor at exactly the right moment. That moment could change everything for a child who hasn't been diagnosed yet.