Monday, January 08, 2007

Genetics and Visiting Med Student!

Happy New Year!

I thought it had been a while since our last update, and since Jenelle has had some recent appointments I have some things to report in a bit, but first... In the last three years (or more) because of Jenelle and our various support groups (both in real life and from the internet) we've had some wonderful opportunities to meet some extraordinary families and friends. This past weekend, we opened our home for a visit from a young and very smart medical student from out of state. Danielle and I met on the internet at a very respectable internet support group for Caregivers to Children with Neurological Problems. As a medical student, Danielle has always had an interest in children with special needs. She has kept in touch with me about Jenelle via my updates. Danielle is beginning the last year of medical school and finally decided to come meet Jenelle in person while looking at UCLA and CHOC's residency programs.

The first thing Danielle noted about meeting Jenelle in person was that she is much more "active" than she imagined from my updates. Others have mentioned this as well, and I guess I tend to gloss over it a bit. Sometimes Jenelle is very hard to describe. Her increased activity has come on so suddenly, I tend to forget that those of you keeping track of Jenelle via these updates do not get to see her in person like I do everyday. Jenelle moves a lot when she is not sedated or it’s the end of the day before her next dose of medication. She kicks, wiggles, giggles, rolls and is constantly in motion and that motion is usually out of control. Jenelle is quite strong. I usually need to pin her down with my leg while diapering her on the floor, or have Brett or Jack help me by holding her down. Carrying her from her chair to the floor is also hard work as she likes to get stiff on you, or wiggle with excitement, or generally go in her own direction. At times it is tough and my back is hurting from it. But she is very mobile, and also showing an interest in people and objects. She really liked Danielle, and often walked on her knees across the room to Danielle. So, hopefully that gives you a better idea of how she has improved.

Of course, Jenelle had to show off with some seizures. She is back to having prolonged seizures again (like the ones that had me worried back in November) and has a new thing of crying after. Obviously she senses the interruption to her day, or is frustrated as are we. Other than that, Jenelle is doing very well. We saw her GI Doctor today and she is very pleased with Jenelle weight gain. She is taking Jenelle off Zantac for now to see if her reflux resurfaces. So, one less drug for Jenelle! And she wants us to continue feeding Jenelle 5 cans of formula a day as well as introduce foods by mouth as she will tolerate it. All good news! Last Thursday, I took Jenelle up to UCLA (with Danielle) to have her blood test for the atypical Rhet Syndrome gene. Danielle was surprised that Jenelle didn't even flinch at getting her arm poked for the blood draw. Although the doctor ordered this test back in July, we have been waiting on insurance authorization and instructions from UCLA on where to have the blood drawn. The testing will be done at City of Hope and we should have the results in 8 weeks.

Jenelle and her new friend Danielle!

We had a wonderful start to our new year and we are excited for more improvement from Jenelle. That is all for now - I'll keep you posted!


jotcr2 said...

I don't think I have commented on your blog before, but I have passed by before. Good news from your Dr. I took Sheena off Zantac, and it was not a bother. I am hoping to reduce her Epilim dose in the morning, as she is also more active in the afternoon/evening. She has been really good for about 1 1/2 months - not 100% sure seizure free as her seizures are very subtle. I am still in the stage that I am just happy that she is smiling and happy at last.

Rebecca said...

hello. I just wanted to say my prayers will be with you as you await the results of the Atypical Rett Syndrome blood test. My daughter was diagnosed with typical Rett Syndrome a year ago.

Also, very well said about the Ashley Treatment. We feel similar here. Our Caitlyn does walk, but due to her loss of hand use, is dependant on us for every aspect of her daily life. It's never easy to make the medical decisions for your child!