Two weeks!!! You did it Jen!!

Jen has made it to school for a solid two weeks without missing anytime! Finally back on track with her regular schedule. She does so much better with her routine in place. Of course next week she has an appointment and will miss a day and then the next week she goes into the hospital and then a week after that is school vacation week. To look on the positive side, March was better than February for her. Hopefully April will bring good health to her along with smiles and giggles! Hopefully.....

So far so good this week!

Jen is having a great week! Very few seizures and seems to be happy and comfortable. When Jen is good, I am good. She is eating great but still drinking very little. She will go into the hospital April 9, and the g-tube surgery will be April 10th. Easter weekend. Hoping it will be as easy as the doctors seem to believe. It will be nice to get this behind her and on the way to better nutrition!

A week with no appointments!

We have NO APPOINTMENTS scheduled. I am hoping with getting Jen back into a regular school routine, just might relieve some stress for her, which hopefully will result in fewer seizures, just maybe..... Here's to a good week Jen!

Seizures, no one should have to suffer with them!

Poor Jen can't catch a break with these seizures. Today she had 4 sets of cluster seizures. They really effect her day. The last set was around 5, right before she was headed home from school. So the total today was 14 seizures!! Tomorrow we go for lab work to check levels, although there really is nothing the doctors can do for her now.
Her meds are maxed out pretty much. The next step would be the Vagal Nerve stimulator. But once again, her surgery for the g-tube has to come first. We have waited another week, no date set yet. I don't really understand it, the doctors say she must have a feeding tube, as she isn't maintaining her weight, but no one is in any hurry to set a date for the surgery, we will wait til Monday and call again. I said to the secretary today, this is not elective surgery we can wait for, it is surgery for a feeding tube, the sooner the better, my little girl is getting tinier by the day. So it looks like mid April at this point, hopefully she will stay healthy!!

CDKL5 controls our life

Jen left for school happy this morning, she was out of school yesterday for an appointment, and I thought she would make it through the day. Unfortunately Jen had a terrible day of seizures and the nurse wanted me to pick her up instead of taking the bus at 5:30. Sounds easy, but this is getting to be quite a routine. I need to find someone to travel with me (at least 2 hours round-trip), change plans, rearrange schedules, not have dinner ready, etc.
Jen's day effects everyone's day in the family. Everyone's.....
We all get through it, but Jen's seizures are uncontrolled which means our family's life is uncontrolled. It would be nice to get everything back in control!

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.....