Jenelle's New Helmet!

Well, there is no news to report from the Genetics Doctor, but I am waiting for a call back. Good news is that Jenelle is doing well with her Topomax wean. We're down 50mg and so far (knock on wood) she hasn't had an increase in seizures! YAY

I decided to share a photo of Jenelle's new helmet. This is a bad photo because it is really scrunched down on her head, and makes her look all mad like a hockey player. She is getting used to it though.



Thanks for the continued prayers - I'll keep you posted!

She's on the Move!

Just a quick update on our little girl. This morning we picked up Jenelle's new "crash helmet" from the orthopedic vendor. We had a choice of pink, blue or tan and we went with pink. It is a real nice helmet; it is lightweight, soft and looks like a hockey helmet. I'll try to send photos when I get around to taking some. Jenelle will need to wear this helmet when rolling around on the floor and if she starts walking in case she has a drop seizure. She did not look very happy with it on, so we'll she how she adjusts to wearing it.

And speaking of mobility… Jenelle is finally crawling! When I dropped her off at school this morning after we got the helmet, I had a chance to chat with her teacher about her progress. I told her teacher I thought she was close to crawling and her teacher said, "She's crawling for us!" Of course, she is not very quick or very coordinated, and her "crawling" does not look like a typical baby crawling, but she is definitely on the move. Some call it "combat crawling" and she looks a lot like a soldier sneaking up on their enemy. Also she seems so happy with her new "view" of the world. Each day she is stronger at sitting up, and now with her mobility she is discovering new things and learning how to find us in other parts of the house. For example, last night I left her on the floor in the living room while drawing her bath, and by the time I returned to get her for her bath, she was almost halfway down the hall towards the bathroom. Its so wonderful to have her improving so much! I never thought we'd see this type of mobility with our little girl!

Thank you for the continued prayers and positive thoughts! I'll keep you posted!

Olympic Hockey Player triumphs over Epilepsy!

I just saw this news article on Yahoo News, and couldn't be prouder of the message it sends about Epilepsy. Click here to read the article.

Good luck to Chanda Gunn, in this coming Olympics and as she continues to live life!

2/3 update on Jenelle

We made the trip again to UCLA on Thursday to have a follow up appointment with Dr. Shields. Our appointments with him are always so enjoyable because he has such a wonderful sense of humor. He said that Jenelle looked the best he'd ever seen her and he was very happy with her recent progress. Her Thyroid test results were back, and of course one level was "slightly abnormal" but not abnormal enough to point to anything specific… this is the story of her life! We all laughed it off and said we didn't expect it to be anything other than that! Her bi-carb level is still low, so we will be increasing her bi-carb supplement due to her recent weight gain. Remember, a bi-carb measures the amount of carbon in your blood; your body needs just the right balance as too many carbons make you lethargic.

We've decided to take a chance and start altering some of Jenelle's medications to see if she can improve even more. At first we are going to increase her Tranxene at night to help her sleep and to get to a therapeutic level, then we will start to wean Topamax. I was concerned that Topamax might be the reason for Jenelle's awkward coordination and Dr. Shields said it can also have some cognitive side effects. Topomax is also the reason for her acidosis (bi-carb problems) so it would be good to get her off it completely. The problem is that we do feel it has been effective on some of her seizures, so weaning it completely is a big risk. We'll take it slow, and at least we know we can go back to what works if her seizures get out of control!

I asked Dr. Shields what would change if Jenelle tests positive for Rett Syndrome (I spelled it incorrectly in my last update, it does not have an "h" in Rett.) He said that Jenelle would still be considered to have a diagnosis of Lennox Gastaut Syndrome, however if the test for Rett is positive, then Retts will be the "underlying cause" of her Lennox Gastaut. Dr. Shields says that he highly doubts Jenelle is a Rett Syndrome baby, but she has been known to surprise us and it would explain a lot. We will see him again in 6 months!

Thanks for the continued prayers - I'll keep you posted!

Our visit with Genetics

We made the trip up to UCLA yesterday to have Jenelle seen by the Genetics Department. Our first consultation was great, and much better than I anticipated. We spent over an hour just giving information about our medical and family history. Jenelle was quite the charmer as usual, and they all agreed she was very cute. (I’m biased of course!)

They took some blood and will be testing her thyroid levels and for a genetic disorder called Rhett’s Syndrome. From my own research on the Internet, I found that Rhett’s Syndrome is caused by a genetic mutation error that typically affects only girls who begin to develop normally but then suddenly regress to the point of losing skills such as walking, talking and eating. Some of the typical characteristics of a girl with Rhett’s are one with attractive features, uncontrolled seizures, and they do not use their hands. Jenelle does not fit the profile of the “typical” girl with Rhett’s Syndrome, but they are finding as they test more kids like Jenelle that there is a type of “atypical” form of Rhett’s that would fit Jenelle’s characteristics. It is something we have suspected for a while, but never actually tested. We will have those results in 4 weeks. We go back on Thursday to see Dr. Shields for a routine follow up and should have the thyroid results at that time. If the test for Rhett's is negative, we may consider getting a muscle biopsy to rule out mitochondrial disease.


I’ll update again once we have some test results. Thanks for the continued prayers and positive thoughts!

Sitting pretty!

We had a birthday party for Jenelle's big brother Jack today. As the party was getting started, I was in the kitchen mixing the salad when I looked across the room to see this...

I almost didn't recognize my own daughter!

Grandma had Jenelle "sitting pretty" like a big girl in the chair. She held herself like this for quite a while. Amazing! She has come so far.

Also, please keep Jenelle's Nana (my Mom) in your prayers and positive thoughts. She was admitted to the hospital this evening with pneumonia. They live 4 hours away, and we have our appointments at UCLA this week, so I don't think I can make the trip. She is usually very healthy, so I'm sure she'll be OK. Thanks so much!

Update on Jenelle's friend Lily

From time to time many of you often ask me about Lily. I stole the photo above from Lily's website - it is Lily and her little sister Andi with Santa. This photo totally warms my heart.

When I look back at the difficult year we had with Jenelle last year, our struggles in no way compare to the difficult year Lily's family had with her. Next Tuesday will be the first anniversary of Lily's brain surgery - a surgery that did little to stop Lily's big seizures. Proving once again that Epilepsy is a monster and that is does horrible things to our children.

Like Jenelle, Lily was enjoying a brief period without seizures due to starting a new drug Vigabatrin. Unfortunately, shortly before Christmas, Lily's seizures returned with a vengeance. I always compare Jenelle and Lily because they look like they could be sisters. With the return of her seizures, it just reminds me that Epilepsy is a very real thing, and our respite right now from seizures could end at any moment. I am always impressed and amazed at Lily's parents - how they are so strong, but I guess I'm strong too, and it is something you just have to be for your child.

Lily's mom Kim posted an update yesterday on her personal blog about the upcoming anniversary of Lily's brain surgery. It was so touching, and I could feel every emotion right along with her. I thought I'd link to it here and share it with all of you as well.

Please keep Lily and Jenelle in your prayers. These little girls deserve so much in life. Thanks!