Evie-Anne's Story

August 09, 2013  •  3 Comments

My Name is Evie-Anne & I was born in 2009, I have 1p36 Deletion Syndrome, a very rare genetic chromosome abnormality that affects me in many ways.



When I was born, I had pneumonia and was in the special care baby unit for 2 weeks but the doctors sent me home as a fully healthy baby after, even though my mommy knew there was something wrong, no one listened to her. I struggled to drink my bottles and lost so much weight, so I had to be tube fed, I wouldn't look at anyone or anything, and at 6 weeks old I began to have seizures.



My skin very bad, it bled from the surface and I had to wear special suits every. Doctors knew there was something wrong, but every test came back negative, and no answers could be found. My mommy took to the internet, and found an amazing charity called SWAN (Syndrome without a Name), from here she met some more amazing mommies, all with children like me that had no answers. Soon she started talking to another mommy whose story was very similar to mine, her daughter's medical issues were identical to mine, so my mom went to the doctors and asked them to send me for Genetic testing. Doctors were very against this as they felt it would be of no benefit to me, but my mom kept insisting, and eventually I had a specialist micro-array test that looks at your chromosomes, from this I was diagnosed with 1p36 Deletion Syndrome.

Because a big chunk of my 1st chromosome is missing, which causes all my medical issues, I see very very bright light's only, I am registered Blind, I have many forms of epilepsy, distonia, Laryngomalacia, damaged lungs, Eczema, asthma, gastro reflux and many other medical issues.



I am not allowed to eat by mouth, I am fed special formulated milk, that means my body can digest it without working too hard, I am fed by gastrostomy tube directly into my tummy every 3 hours by a machine. I have very low weak muscle tone, and I am completely wheelchair dependent, my doctors say I will never walk, talk or even sit up unaided, but what do they know hey? I love music, bells, fans, the wind in my face, water and my sensory room, I am learning how to use special switches that will hopefully one day let me communicate with you. I wake up everyday smiling, and I fall asleep every night smiling, my mommy say's that everyone who meets me falls in love with me, and that's fine with me as I am a very loving little girl, who loves cuddles & kisses. My mommy says waking up to me everyday is like getting into fresh sheets on her bed every night after a very hard day!!



I have had several surgeries in my short life so far, I have had both my adenoids & tonsils removed to help with my breathing & sleep apnea issues, a fundoplication surgery, where my stomach was sewn up to prevent the stomach acid from coming back up and aspirating on my lungs, and also a gastrostomy where a little button/tap was placed in my tummy, this is where I am fed through as I am not allowed to eat by mouth. I am forever in & out of hospital as I get very sick often, and I always get things 3x as bad as everyone else, I usually spend most of winter in hospital with various flu type bugs/virus that turn into phnemonia, and make me very poorly.



Thank you to Maxine at https://www.facebook.com/pages/Maxine-Sarah-Photography/365593203458156?fref=ts for the beautiful images and for being a Butterfly Photographer and Founder.


Blue White(non-registered)
Magical though sad little story and such a brave little girl. My little wishes go out to you all! :-) x
Emm xx(non-registered)
This little girl is amazing and steals the hearts of everyone that meets her. She has a lovely family with an amazing mommy and daddy. Love you all xxxxx
Clare Humphreys(non-registered)
That is so beautiful
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