Whats in a diagnosis?

So I get into a conversation with someone I have worked with for over a year about our kids today. In the middle of the conversation she asked about my youngest daughter, how old, what school, etc.... well how do I begin? 14, and then the converstaion goes astray as she is amazed I have a child with severe special needs. I hear - she doesn't walk? she doesn't talk? does she understand you? she doesn't feed herself? 100% dependent? really you have to help her with everything? everything? can she sit up? can she read? She has real seizures almost every day? Does she take any medication? This person is a sweetheart, and truly wanting to know about Jennifer. Then she says, how do you do it? take care of her and work? I smiled. I am thinking in my own head, of course I take care of her, and work, take care of a house, my other two kids, dog, cat, and just everyday life.. BUT YOU ARE ALWAYS SO HAPPY - you would never know you have a child like that to take care of. Well, at least when I am at work, I come across happy and pleasant, I really try to keep my personal life out of work, my personal life consumes me, Jennifer consumes me. I love being Jen's mom, but at work its nice to be known as Gayle, its like a getaway for me in a way. The days I am not at work lately have been spent at appointments, then you bet, I am Jen's MOM!!!

So the conversation turns to What is her diagnosis? Well if it was simple to say or explain, I would, but what am I suppose to say, Atypical Rett Syndrome-CDKL5 variant-early onset seizures. That is a long name of what the diagnosis is, but it means absolutely nothing except to other families that unfortunately have the same diagnosis. To the average person inquiring, how do you describe it, so I try.
Rett Syndrome is the most severe form of autism in girls... o.k., well if that is what Jen had, that might not be so hard - explain Rett Syndrome ( I can do that after all these years) CDKL5 - that means nothing by itself. Jen has so so many criteria to be diagnosed as Rett Syndrome, but does not fit Jen at all. She is so much more severe than a typical Rett Syndrome girl. I stop there and say how beautiful she is, as if I were to continue it would be Jen has been diagnosed with mental retardation and refractory epilepsy, she has severe scoliosis, she does not respond consistently to anyone or anything, yes she responds but not consistently, she does not eye gaze like the other girls, she will gaze but only if it is a novel toy,food etc. being brought into her vision. I couldn't descibe her like that, no way...
So Rett syndrome alone is not the correct description. If I describe a girl with Rett, I am not describing Jen, one day we will have a syndrome to go by, but today the closest is Atypical Rett Syndrome - CDKL5 variant-early onset seizures.

My preference of describing Jen is a beautiful red head with a feisty personality, that is able to get her point across without one word. She has a smile and giggle that will melt your heart. She has endured more tests than any human should ever experience and a little body that challenges her each and every day. Her daily seizures will control her mood, ability and overall strength for the day. She is much happier when spoken to and handled gently, and has unconditional love for anyone that will give her the time of day and will absolutely listen to anyone that sings to her. Her greatest love is food and music! She is my teacher. She has given me an education I never intended on having, she has taught me to speak up for her best interests and she has taught me patience beyond belief. That is the real Jen.....