Amy and Friends - Cockayne Syndrome Support Amy and Friends - Cockayne Syndrome Support
























Bertie Butterfly is kindly sponsored by Holly Lodge School for Girls, Liverpool.

 

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  My name is Abriella Marie McKinney and this is my story -

I was born 7 weeks early, as I was being very closely monitored due to my growth restriction. On 12/22/11 my mommy went to see her doctor for an ultrasound and stress test, and it was decided that I would be born that day because the doctor did not like the way my heart rate looked. My mommy tells me that she was extremely excited to meet me but at the same time concerned. When my mommy and daddy looked at me for the first time they could not believe how loud I could scream for my little size; I was 3 lbs 1oz and 15 inches long.
My mommy and daddy were able to take a few pictures with me but then my daddy walked me to NICU where I remained for 37 days. While in NICU I worked on keeping my oxygen levels, holding my body temperature, feeding difficulties and gaining weight.
When I went home I was able to drink from my bottle but I slowly started to drink less and less, my mommy was starting to get worried. My pediatrician was concerned that I was not gaining weight and feeding well, so he referred me to a GI specialist. I visited an Ophthalmologist for a checkup and to every ones shock, I was diagnosed with congenital cataract at 2 months old. The specialist stated that due to the location of the cataract, I had been seeing black since the day I was born! My surgery was quickly scheduled for the following week, in the effort to save my vision; I had surgery in one eye and two days later on the other eye. I have been wearing contacts every since. Once I visited the GI specialist, I was treated for Reflux and given medication to help with motility (help move things along the intestines) and it was thought that I would start eating better. I began to drink less and less, not even 1 oz within 30 minutes. At 6 months I was given an ng tube to ensure I received my nutrients and was referred to a Speech Therapist. The Speech Therapist discovered that I had a very high palate and it made it difficult for me to suck out of a bottle and I would get tired; she also discovered through a swallow study that I was at high risk for aspirating with fluids. I was also referred to an Infectious Disease specialist to see if they could come up with any answers for all the barriers that we were encountering, but after tests it was determined there was nothing there. My next visit was to my Neurologist, who diagnosed me with Microcephaly and determined through a CT Scan and an MRI that my Corpus Callosum is thinner than it should be. The Neurologist explained to my mommy that the results explained my delay in development and lack of reaching mile stones. I began to receive Feeding Therapy, Physical Therapy, Occupational Therapy, and Vision Therapy. I was referred to a Genetic specialist who ran genetic testing and my parents waited for results, for what felt like an eternity but it took about 4 months. At 11 months old I had surgery to get a G-tube to ensure I was receiving all the calories I needed to grow healthy and strong. I was then diagnosed with high blood pressure and my mommy has to take my blood pressure at home twice a day; I take medication for the high blood pressure and visit a Reno specialist. A few days before my 1st birthday my mom received a call with the genetic results that explained all the symptoms I had experienced, Cockayne Syndrome Type 2. Recently, I was referred to a Pulmonary specialist because I’ve had Pneumonia twice in the last three months and now routinely receive daily breathing treatments. My mommy and daddy have made sure that I have a strong group of doctors taking care of me to ensure that all my needs are met and I remain as healthy as possible. My mommy tells me that she admires me because through each step of the way, I kept my smile and happy spirit.

I am happy to report that my mommy is going to be staying home with me now and I look forward to playing with her all day!! I really enjoy being held, being smothered by kisses and being tickled. I have a wonderful big sister (who is a few years older than me) and I loooove playing with her; we often lay together playing. I am not able to sit down by myself, truthfully I rather lay down! I love to play with toys that have music and lights. You will usually catching me smiling, as I am usually happy :)

Since my diagnosis my mommy has received so much support - we have even been able to meet some of the families and make new friends! I know I have gone through many struggles during my time on earth and I am glad that we have found a group of people who understand what we are going through and can give us advice and support.

   
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