Hi! My name is Amelie, I am 20 from England and have simple virilising 21-hydroxylase deficiency (aka classical CAH). I’m aware much of the MAGIC base is from US, so do apologise in advance if I use any unfamiliar lingo etc… I was born at my local hospital who quickly realised things weren’t quite right so I was transferred to Great Ormond Street Hospital (GOSH) under the care of Prof Peter Hindmarsh. After a series of tests including genetic, I was diagnosed around 3 days old and began steroid replacement therapy. Despite doctors' confusion at the time, I am not salt wasting.

Surgery was the standard procedure when I was a baby, but I am aware sadly this choice has been taken from parents- my experience is a very positive one. I was born a 4 on the prader scale and so surgical intervention was required both for functionality and aesthetic reasons. I had a series of surgeries under the care of Dr Peter Cuckow between around 18months and 3 years old to correct my genitalia (including clitoral reduction) and place a kidney stent due to the damage caused by refluxing urine. The utmost care was taken to preserve the nervous endings and I am eternally in debt to the team that did such an excellent job. I was always aware (through my parents) there may potentially be a need for more surgery.

I had a relatively normal childhood- I guess that’s the benefit of a birth diagnosis I don’t know any different and this is my normal. I have fond memories of visiting GOSH for 24hr blood profiles and going to yo-sushi for lunch then spending hours in the park across the road between my blood draws then on my way home getting a toy. Not so fond memories of the needle phobia I developed from being used as a pin cushion as my tiny veins failed me regularly. My mum was very matter of fact about the condition, and I was not coddled, I was very independent and being told no because of my condition was not an answer I would accept. I’ve always enjoyed sports and began horse riding at 3 years old -this culminated to me getting my pony at 11.

I was brought up to make school a priority, I love learning. I sat my 11+ and got into a highly selective all girls grammar school. In year 10 I started to be impacted more by the condition and I can only put this down to the pressure I put on myself to achieve my dream of being a vet. A series of events mainly due to medical neglect of my GP meant I ended up in hospital with sepsis from a UTI at 15 for 4 days during my mocks. This was followed by 6 months later a much more serious situation again with a UTI turned septic during my year 11 mocks. I spent a week in hospital with a night in PICU, I don’t remember much of this stay or the events up to it but from what I’ve been told everything escalated in hours.

Luckily despite everything I came out with 11 GCSEs all 7-9 (A-A**) and got into my first choice sixth form for A levels.

Unfortunately, the following 2 years at sixth form were probably the worst of my life, my health was abysmal, covid lockdowns constantly (including my 18th birthday), and I had more elective surgery which put a bit of a spanner in the works. Although I did secure a university offer for my first-choice vet school, that year our schools were awarding us grades rather than sitting external examinations, due to my poor attendance (all health related) I was awarded A*BC which meant I was rejected. That pit feeling in my stomach is not one I ever wish upon anyone, completely gutted. I’ve never felt so helpless, my appeals to the exam board were thrown out and I was offered no guidance, for the first time in my life I felt different and as if I may not be able to achieve my dream because of one silly little enzyme that I didn’t have!

After grieving for a while, I pulled my head together and figured my options out. I took a gap year to earn money (always a help!) then the following year enrolled in my local college to study a diploma. I reapplied to vet school and received my first choice offer in under 48hrs!! Everything that happens is meant to be and I truly believe that. I worked so hard all year and finished with full marks in my diploma. On 25th July 2023, my place at Bristol Veterinary School was confirmed. I have just finished my first term as a veterinary medicine student, I have an incredible medical team and the support from my tutors is second to none. I’ve fallen back in love with education and well on my way to making my dream a reality. For the first time in a long time, I can genuinely say I’m happy. I’m sure they’ll be plenty more challenges but you just gotta focus on putting one foot in front of another and you will get through it. I am always very open about my experiences and surgeries etc. so if anyone ever wants to contact me, my Facebook is Amelie Eynon.