Esmee was diagnosed with OTC deficiency at 18 months old, a rare metabolic condition which is a type of Urea Cycle Disorder (UCD) that affects only 1 in every 80,000 people. We were unbelievable lucky that Esmee's condition was actually diagnosed and she received life saving treatment as the outcome potentially could have been very different. Our lives changed forever that day.

We wish that understanding, diagnosis and screening for UCD's was standard and hopefully with more awareness this might happen in the future. Most GP's will of never heard of these conditions and even in an A&E department its unlikely that the testing would even be considered.

Esmee is amazing and continues to surprise us everyday.

We hope that this generation will make inroads to working towards early diagnosis, awareness, potential cures, better treatment and more accurate and faster ammonia testing.

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