Ellie's story

I am the first link in the chain of my family living with Oro-Facial Digital Syndrome Type 1 aka Papillon-Léage-Psaume syndrome. It is hard. Not just on me, but on my family.

I was misdiagnosed as a 3-day-old baby with OFD Type 2 (Mohr's Syndrome), back then they had never heard of it, but as I have kidney failure as an adult, it was proven through researching the difference between the two.

I have been in and out of hospitals since I was 3 months old, and have had (so far) 29 operations, been in dialysis waiting for a kidney since I was 28 as well.

As a child growing up, it was hard missing out on school and getting teased to the extreme of my looks and the way I spoke, I also had extra tutoring whilst in school and after. I am missing a corpus callosum which I have learning disabilities. I missed out on a total of 4 years.

Truth be told, I don't care about what I look like or my learning disabilities, I would have preferred to not have so many operations for plastics. The only thing I wish I could do is to live away from my family. I live with my partner on my own, sure, but my family thinks I should live within 15 minutes of them. I feel smothered.

I have always had trouble being in a "Certain Category" with services and support, so I have given up looking for any help. Services and Support say to me, "You don't look like you need our help, so we are not going to help you."