Rare Metabolic Disorder – OTC Deficiency

brookeHey! My name is Brooke, I’m 18 years old and I’m a student studying year 12 at school in Melbourn., I’ve been a patient at the Royal Childrens Hospital my whole life – seeing the amazing metabolic team, whom have saved my life many times. Before I was even born my mum had an amniocentesis to test whether the gene of the metabolic disorder that my brother passed away from, had been given to me, or whether I skipped the gene and I was going to be healthy. The results came back, and I was diagnosed with a rare metabolic disorder called Ornithine Transcarbamylase Deficiency (OTC Deficiency for short!) My sister was born 6 years later, where she skipped the gene and had no sign of any illness. – My mum was only a carrier of the gene and not diagnosed, so she had no sign of illness either.

Growing up I was ‘fairly’ normal, able to go to school, hang out with friends, be just a general kid. I’d end up as an inpatient with high ammonia levels several times a month, but it was just my “normal” and I took it all in my stride. High ammonia levels (which are toxic) were caused by my body not being able to break down protein properly, so when my ammonia was suspected to be high, it was a trip straight to the emergency department and a one way ticket to an admission. If my hyperammonia attacks got bad enough, my brain would swell and my organs would start shutting down. But even if they weren’t dangerously high, it was still high and treatment would begin.I would be unconscious for hours/days, while my ammonia would come down on the Intravenous/Nasogastric Tube treatments metabolics gave me and thanks to the amazing team working so quickly.

In 2012, I had a big scare where a hyperammonia attack became so severe I passed out at school and had to be taken in an ambulance straight to the RCH (Royal Childrens Hospital), where I was practically taken straight to ICU, put on a machine that was breathing for me and my body was put in an induced coma where they were doing everything to stop my brain from swelling so much that they were able to reduce effects. Thankfully I came out of the “attack” with minimal effects, after a week in a coma and I spent 6 months admitted where I learnt to do everything myself again, as I lost almost all of my independence and motor skills – I needed help with everything from moving, going to the bathroom, eating to just changing my shirt, it was all a struggle and to say I felt alone would be a huge understatement. I had to get my motor skills back and learn to manage my caloric intake and medicines myself. – I spent my 15th birthday in hospital.

As I got older, I learnt to manage my illness a little more myself where I was able to calculate how much protein was in each food that I ate and made sure I didn’t go over my intake limit (5g a meal, 2.5g a snack!). I was able to make my own medication up and know when I needed it (3 times a day). I’m now at a stage where I know my own body and I know when I think my ammonia might be getting high, and when to go to hospital, although there are times its already high and I can’t tell.

To this day, as an 18 year old girl, I still have to go in to hospital for hyperammonia attacks, appointments, tests etc. When I’m admitted, not only my life gets put on pause, but my whole family’s life is put on hold, to wait for my body to recover and to get back to a little normality. It’s hard, physically, socially and emotionally on everybody – not only me.

I consider myself lucky. Lucky to be alive, to be able to control my illness (there are times when I can’t and I have to give in and go to hospital). Lucky to be able to have friends who also have chronic illness’ and they understand what it is like to go through it. Obviously school has never been easy, with being in hospital all the time rumors spread fast and people just didn’t ‘get it’ – no matter how many times I explained I had a chronic illness. I’m still lucky I’m able to get a solid education and hopefully one day become a pediatric nurse and help kids like me.

My advice to anyone reading this is, stay positive. Find something, anything to smile about even if its something small and silly. You know your body better than anyone else, if you think something is wrong, speak up. Let yourself have a voice and be heard by anyone. It only takes one person to listen.

You are amazing, strong, beautiful and your illness doesn’t define you.

Brooke x

7 Comments
  1. You are one amazing young lady – keep smiling & thanks for being a friend to our Josie ❤️❤️

  2. You are one amazing young beautiful lady
    A friend of your beautiful mother

  3. Your story is amazing Brooke <3
    Love you lots !!

  4. Always so proud of everything you do Brooke! To think that you went from having to learn everything from fine motor skills that we all take for granted and now you’re out there dancing in front of hundreds of kids! You’re an inspiration to us all! Love you so much xxx

  5. You are such an inspiration brooke! You are so amazing… we love you Eden, Jippa and Jp

  6. You’re a bright girl with the fullest of life’s ahead of you! I’m so happy you are just so positive about everything and living life to the fullest! Having a sibling that’s really sick is knocked me back my baby sister had brain cancer! She’s a little fighter 5 years old! Kinda like you – you are both fighters and everyday God watches over us and you! You have all you’re family which us amazing! Keep up with the positive attidute cause girls/ people like you are gonna go far in life!! If u ever need anything let me know!! X

  7. Hi,
    What a strong lady!
    What’s a hyperammonia attack and how often do you get one?

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