My pregnancy with Emma was anything but normal. My OBGYN told me after my first sonogram with Emma that she wasn't growing like she should and that they are picking up some heart abnormalities. I was sent to a specialist to watch my pregnancy with Emma extra careful. I went weekly for 3D sonograms and to check Emma's growth, yet she still wasn't growing. Emma grew at her own rate and on June 9, 2006 I was induced. She was 3 weeks early and weighed 4 lbs 14 oz and 16 inches long. In fact when we brought her home she wore her sister's baby doll clothes(preemie was too big for her). Emma was born not knowing how to suck and was diagnosed with failure to thrive. I took her to her pediatrician weekly for weight checks. As time went on, Emma grew and gained weight at her own speed. It wasn't until Emma went to her pediatrician for a monthly check up that my life was forever changed. Her doctor wasn't in on that particular visit, so Emma saw one of her pediatrician's colleagues. She called me when I got home and told me that she wanted to refer Emma to a Genetic Specialist because she believed that Emma had Down Syndrome. I was shocked, saddened and confused.. Emma saw the Geneticist and had blood work done for many different syndromes including Down Syndrome, Angelman's Syndrome and Prader-Willi Syndrome as well as a Fish Test. All results came back negative. Though we were relieved that the tests were negative and the FISH test came back normal(all chromosomes were complete~no deletions), we still didn't have any answers as to what was going on with Emma. She had features that were different that her siblings, mild facial dysmorphia, poor weight gain, short stature, weak muscle tone, sensory integration dysfunction, laryngomalacia, aspirating while drinking her bottle, learning delays and mental retardation. Her Geneticist told me that we have to wait to see what she grows into or pray that a test will come that her insurance will cover. Emma continued to grow and learn at her own rate. She bibble babbled until she was about 5 yrs. Emma had Speech Therapy, Occupational Therapy, Physical Therapy(until she was 3 yrs old), and a dietitian(until she was 3 yrs old). Emma was admitted into Cook Children's Hospital countless times for RSV and breathing difficulties due to aspirating and she had a Bronchoscopy done when she was a yr old. She was followed by Genetics Dr, Pulmonologist, Opthamologist and Cardiologist~ because Emma has ASD(Atrial Septal Defect). Her ASD is monitored yearly to make sure it continues to close up. She has 3 holes in her heart measuring 6mm, 5mm and 3 mm. With all the challenges Emma was facing each day..She was still happy and courageous and full of life! On June 6, 2011 Emma was rushed by ambulance to Cook Children's Hospital in Fort Worth.I had no idea what was wrong with my baby..I remember thinking she was dying..3 days before her 5th birthday.. Emma was having a seizure. Our lives that we once knew was never the same...Emma was diagnosed with Complex-Partial Epilepsy. We struggled to get her seizures controlled with medicine. We changed medicines many different times, and in the meantime Emma was being taken by ambulance every few days for her seizures. They cause her to "breath hold", which means she doesn't breathe and her heart beats so hard! Her seizures happen while she is asleep(usually within the first 15-45 mins after she goes to sleep) and after she wakes up(withing the first 15 mins of waking up). Emma was admitted into Cook Children's Hospital Epilepsy Monitoring Unit several times for testing. The Neurologist wanted to capture her seizures. She was hooked up to an EEG and was video monitored in the room for 24 hours a day. They wanted to see the seizures..and they got to see them. Emma had seizures 3 times while we were admitted. The Neurologist told us after discovering Emma was having seizures on BOTH sides of her brain in the Occipital Lobe, that Emma was NOT a candidate for surgery.He told us that Emma's neurons in her brain in the Occipital Lobe are a wadded mess. He said that the Neurons didn't develop right while I was pregnant with her. Not that we were wanting to have brain surgery, but was hoping it would be an option. We were very disappointed! Emma started seeing a new Neurologist who specialized in Epilepsy. He was EXACTLY what Emma needed. He got Emma on a combination of medicines that have controlled her seizures VERY well!! On March 14, 2013 Emma's Genetic doctor did a Micro Array blood test on Emma, her dad and me. She told us the results would take about a month to get back..She was VERY confident we would have our answers to Emma's puzzle!! On June 20, 2013 Emma was diagnosed with Koolen De-Vries Syndrome( as well as Autism and Global Developmental Delays).We finally had answers and were also scared and confused about what this meant for Emma. We googled and researched everything we could about KDVS. We were told about a FB page with other Kool kids..and we were shocked when we saw the pictures of Emma's extended family..They ALL favor each other in so many ways. We were astonished!! Although KDVS is pretty rare and were still not certain about what the future holds for Emma, were relieved to finally have answers. Emma has made great strides with her speech, although she can be quite hard to understand sometimes, epilepsy,learning difficulties, sensory dysfunction and hypotonia... She never ceases to amaze us!! She is a WONDERFUL AND AMAZING CHALLENGE!! We wouldn't change her for anything! She has taught us to love unconditionally, to love hard, and to have NO regrets! Emma is an amazing, loving and an inspiration to ALL those around her! For more info about KDVS.. http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome
http://en.wikipedia.org/wiki/17q21.31_microdeletion_syndrome
