It’s Gonna Be a Fantastic Day

We welcome Emma’s family today to share their story.

Emma was born on March 18th, 2011 . She was an absolutely perfect, healthy baby girl at 5 lbs. 8oz. Like her twin brother brother, Emma met all of her early milestones on time. She rolled over, sat up, ate solid foods, crawled, clapped her hands, passed objects from one had to another, used a pincer grasp, pulled to a stand, fed herself, held her own drink and began cruising around the house. She absolutely delighted in stealing toys away from her brother, especially his pacifier.

At a year old Emma was suddenly no longer keeping up with her brother. We took her to doctors that told us to “wait and see” and that “all children develop differently” but we knew something was wrong and pushed for our daughter to be enrolled in Early Intervention. Through Early Intervention Emma continued to make gains, she was crawling through tunnels and walking up slides in our homemade therapy gym. The doctors all believed that she was just “low tone” and that she would eventually catch up.

The first signs that something was terribly wrong began at 19 months, in October. Emma started doing a repetitive movement with her left hand. None of her therapists or doctors understood why she was doing it. We contacted a neurologist and he said it was a “stereotypy” and that they can stop as suddenly as they start. None of the doctors seemed that upset by it and their calm eased our fears. Briefly.

By 22 months is was painfully clear that this was something much, much worse than a benign stereotypy. Emma suddenly began retreating into her self. The little girl that we loved was vanishing before our eyes and we were helpless to stop it. She stopped making eye contact and playing with her siblings. She no longer spoke or made any sounds. She stopped reacting to noises, people and playing with her toys. She stopped enjoying being held and reading books. We thought she had gone completely deaf. She never smiled all of her joy was gone. The rhythmic motion with her left hand became constant.

Doctors began MRIs and genetic testing and we began to review our family histories and questioned our families looking for previously unmentioned genetic disorders that could be the cause of out little girls troubles. There were none. No one on either side of our family has had a genetic disorder of any kind. We though we were in the clear, because, what were the chances of having a completely random spontaneous mutation?

The chances were 1 in 20,000. A .005% chance that it would be Rett Syndrome. The odds were not in our favor. It was Rett Syndrome. A disorder we had never heard of and terrified us. We were praying for anything but Rett, but our prayers were not answered.

The doctors called me at work and gave me the news over the phone. I had to leave work and I cried all the way home. We were devastated by the news. I did not want to cry in front of Emma so I dried my tears as I walked though the door. I picked her up, held her close and promised her that everything would be okay and it has been. Emma suffers from seizures, scoliosis, central apnea, chronic pulmonary issues and is unable to walk, talk and has difficulty using her hands. We face many challenges but we are thriving as a family.

Emma came out of her regression she began to return to us. Her laugh and smile returned, she makes better and better eye contact, she is learning to use her communication device and she loves to play with her siblings. Emma is a beautiful little girl who shows us the true meaning of strength, patience and unconditional love everyday. She is full of life and love.

Emma’s cake was provided by Sugar Angel Adriana Vela with Adriana’s Pastries in Chicago, Illinois. Thank you Adriana for bringing a big SMILE to Emma’s face!