Connie is now 9 years old and she brightens our lives and gives us such a purpose. Here is how her story began....
Right from the very beginning, when Connie was born she was found to have some unusual features; a heart murmur, epicanthic folds, single palmer creases, low set eats and wide spaced eyes with ptosis (this is where Google is your friend!). Connie had a variety of tests and x-rays of her chest, this first day was so very scary, my new born 7 hour old tiny baby on the bed to have an x-ray, when all I wanted to do was hold her close to me. As we left the hospital to take her home we were asked to return shortly. Our journey into having a very special daughter began with the first of many hospital appointments at only 20 days old.
The professionals were questioning a syndrome, and the process of loving a baby like Connie began - a hard road, so many expectations and so much fear. We were on an emotional roller coaster of a journey. At around 6 weeks old Connieï¿½s eyes developed nystagmus, this is an uncontrollable roving eye movement, what progressed from here was that Connie had little to no vision and a long 7 months and a battery of tests to determine the cause of her visual impairment.
We found out the condition when she was 8 ï¿½ months old, also the time she got her first pair of glasses! That was fun encouraging a baby to keep her speccies on.
The condition she has is called albinism. This is a lifelong condition affecting the levels of melanin in her body resulting in reduced pigment, and a severe visual impairment.
Over the years we have had many ups and downs discovering new conditions that she has alongside the Albinism. She has been diagnosed with Raynaudï¿½s Phenomenon, Sensory Processing Disorder, Autism Spectrum Disorder, Hyper mobility, she has episodes of ketotic hypoglycaemia, a mild immunodeficiency, and Connie have recently been diagnosed with Noonan syndrome that seems to pull together many of these features. Similarity to all of her siblings who all have a ranges of additional conditions. There are many sides to Connie. But most of all she is amazing. Simply amazing. She loves rainbows, being in charge and her iPad, she amazes us daily with her determination and her strength of character (read bossy!) and we are so very grateful we have her in our lives.