Wednesday, January 31, 2007

Not only can she stand... she can sleep while standing too!

Brett just sent me a couple of photos of Jenelle that he took from his cell phone. On Sunday, I took Jack with me to the grocery store and left Jenelle with Daddy. Brett had been up early on Sunday working the pancake breakfast at Jack's school and was trying to take a nap. Apparently Jenelle did not want her Daddy to ignore her, so she kept crying and eventually crawled over to him on the couch, hit him and bit him until he played with her. Clearly she was over-tired and did not want to share nap time with Daddy.

After throwing a fit, Jenelle eventually fell asleep... while she was standing up! As you may recall, Jenelle likes to pull herself up into a stand and lately has been leaning up against the couch to do this. Brett says this photo doesn't do it justice as she was standing as straight as can be!

And of course, I think this is her best smile ever!

Monday, January 29, 2007

Hind Sight

Hind sight. Don’t you wish you knew then, the things you know now? I wrote the following on April 15, 2005 about Jenelle:

"Perhaps it’s my optimistic attitude and positive outlook on life, but I truly feel that this may be for the best. As long as there is no diagnosis that limits her life or limits her development, then really there should be nothing holding her back once we control her seizures! Without a definite diagnosis, her potential remains unlimited!"

One thing I have been turning over in my mind since reading about the Ashley Treatment is that we cannot predict the future. Of course, hind sight is a wonderful thing to have. It is great to look back and say, "Wow, if we had only known she was going to do this now" wouldn’t these difficult decisions that we are faced with be so much easier? Of course now I can say, "Gosh, I’m so glad we didn’t remove half of Jenelle’s brain. Look at how much she has improved!" When at the time, I wanted to beg and plead with the doctors to go through with it regardless of whether or not she was a candidate. The surgery had promise, and not allowing her to have it meant she couldn't be normal.

I do not wish to pass judgment on Ashley's parents for their decision, but I hope and pray they don’t regret their decisions years from now down the road. When hind sight gets the better of them.

I will share with you now my secret hope ... that maybe someday Jenelle will walk on her own, talk and have the ability to live independently. That she really is just a late bloomer, and that once we got rid of her seizures, she turned out to be O.K. It could happen. Most likely not, but it still could happen. I am amazed at how my statement merely two years ago has practically come true. In April 2005, Jenelle couldn't’t sit up, she couldn't’t eat well, she didn’t smile or show any emotion (even that of a cry of discomfort.) And look at all she is doing now. Sitting up, walking on her knees, laughing, giggling, smiling. And it hasn’t even been 2 full years. Just think of her potential, it truly is unlimited.

Right now our biggest challenge with Jenelle is that she moves too much. I remember the days when she was so non-responsive and thinking "be careful what you wish for." Not this kid wiggles so much, diaper changes are challenging as is putting her to bed at night. I want immediate help with these issues now, but Brett reminds me that perhaps in a few years, this will not be an issue. He is hopefully optimistic, and I want to get lifts in place as I know how difficult our insurance can be.

Wouldn't it be wonderful to see into the future? Without knowing, all we have is hope. As as long as we remain optimistic, the future looks bright.

Wednesday, January 24, 2007

Initial meeting with the Metabolic Specialist

We took Jenelle this morning for her initial consultation with the Metabolic Specialist at CHOC. If you recall, Jenelle's Kidney doctor had continued to monitor her Metabolic Acidosis when she diagnosed it, even though it wasn't really her specialty. We finally decided to search for the cause of the acidosis, which led us to this referral. Jenelle was once seen by CHOC's Metabolic Specialist in January 2004 but his initial tests were inconclusive (surprise, surprise!)

We made the appointment for today back in November, and I had to complete 6 pages of medical history questions about Jenelle to send to them prior to today's appointment. We were impressed that they took the initiative to pull Jenelle's medical records on file with CHOC to review prior to our appointment today. As you can imagine, Jenelle's records are voluminous, so this spared us much of the time it can take to give a full medical history on Jenelle (and the poor child is only 4!) And still, the appointment was 2 hours long! Brett and I were quite pleased with the doctors and we felt the appointment was very productive.

We discussed some of our second opinions that would not have been found in her records at CHOC, specifically our consultation with Dr. Menkes in LA (the metabolic specialist and "the man who wrote the book" on Child Neurology aka our "Dr. House") and Dr. Charlotte Dravet from France. They were quite impressed and felt that if both Dr. Menkes and Dr. Dravet felt her issues were metabolic, then it was definitely worth a closer look.

They are going to order some tests for Jenelle including a basic metabolic panel and urine organic acids. They would also like to order some genetic tests including the basic FISH chromosome panel (DNA) test as well as check for something called "Fragile X". Sorry, I've forgotten what "FISH" stands for, but I recall we had it done when Jenelle was only months old to test for Praeder Willi Syndrome. I think it has something to do with mapping the chromosomes in her DNA. The results back then were normal (surprise again!) Jenelle has never been tested for Fragile X, and they say it is more common in boys than girls. Basically, it is where the "X" chromosome deteriorates or deletes through the generations, and if this gene is passed down the lineage, you begin to see mental retardation, some deformities and seizures.

The doctor agreed that we could hold off on Mitochondrial testing (which involves a muscle biopsy) and that we should only consider it if something came back in these initial tests to indicate Mitochondrial disease. The doctor also noted that Jenelle has never been tested for neurotransmitter disease (potential diseases and/or genetic conditions that inhibit the brain cells' ability to communicate with one another (transmit neurons).) This test would involve a spinal tap and a hospital admission. The doctor would rather do the least invasive tests first (the blood and urine samples) before ordering the spinal tap, and we agree. The neurotransmitter test may be something we will do in late spring.

Sometimes the hardest question we get from a doctor is "What do you want out of all this?" or "What do you hope to change?" The sarcastic answer that first comes to mind for me is "I want her to walk, talk, be normal, go to college, get married, have kids and win the Nobel Peace Prize!" (Doesn't every parent want that?) But obviously, we realize the point the doctors are trying to emphasize is that even if we ever find out what is "wrong" with Jenelle, there most likely is no cure, nor will it change her prognosis. We got this question today, and we gave them our usual answer. We want to know if there is something we can fix, or if there is something we have overlooked. Also, we'd like to see if we could reduce her medications in some way, and of course, we would want to know if this is something that could shorten her life. Brett and I realize that we may never know what is wrong with Jenelle. We may never find a name for it, and most likely there is no cure for it. We are not overly obsessed with an overwhelming need to find a name or exact diagnosis. We don't lose sleep thinking about it. But, if at all possible without putting Jenelle through too much torture, we'd just simply like to "know" why she is the way she is. Jenelle is thriving, is healthy and happy. Other than maybe wanting her to be a bit more "normal", we wouldn't change her for the world.

These tests and the results usually take a long time. We are scheduled to visit Dr. Shields at the end of February. Thank you for the continued prayers and support - I'll keep you posted with anything new.

Wednesday, January 17, 2007

Another Mom's Observations - "The Mother at the Swings"

I'm so ashamed I don't check my home e-mail more frequently. It wasn't until last night that I found an email from Vicki asking me to check out her new column. Vicki's new piece, "The Mother at the Swings." is up at Literary Mama. The site says she is to be featured in a monthly column and I can't wait for more!

At Jack's birthday party this past Sunday, I encountered a "Mother at the Swings" and had one of the most heart warming and pleasant conversations I've had in a while.

We invited all of Jack's Kindergarten class to his party at Pump it Up! and we were thrilled that many of them came. Since school started, I've gotten to know some of the other Kindergarten Mom's pretty well and I'm usually pretty honest and open about Jenelle's special needs. I was quite surprised however when one Mom that I've gotten to know very well started asking questions about Jenelle.

"Kelly", she said, "I'm embarrassed to admit this, but I had no idea Jenelle had
special needs until I saw you just now feeding her with a g-tube. I can't believe I didn't see it before!"

"Really?" I responded, "I thought I mentioned it. Haven't you seen her in her wheelchair?"

"No!" she said, "Every time I've seen Jenelle, she has been in a stroller. In fact, I've always admired what a well behaved kid she was. She never talks and never acts out! What is her disability?"

And then I proceeded to give her all the details. As you can tell from this blog, I never hold anything back about Jenelle. What I found so flattering was that she was shocked and amazed she didn't see it before. She truly wanted to know more about Jenelle and she wasn't afraid to ask.

People often tell us we're lucky and cursed at the same time because Jenelle's disabilities are not something you notice at first glance. I've often thought that as she has gotten older, that her disabilities are more obvious. But I suppose to someone just seeing her in a typical stroller, you still might not know at first glance.

I've mentioned it before, there are times I just don't know how much information I should volunteer. When they tell me that Jenelle is well behaved or seems sleepy, most times I just nod and agree. Jenelle has so many different issues, I sometimes wonder where to stop. This happened a few weeks ago on the tram at Disneyland. I was sitting next to a young teenage girl who kept staring at Jenelle and telling me how beautiful she was. When she stared to wave and make faces at Jenelle, I decided to tell her that Jenelle was blind and couldn't see.

The young girl immediately perked up and said, "Really? You'd never know from looking at her eyes!" Then she pulled on her Mother's arm and said, "Mom, this little girl is blind!"

The Mother then smiled at me and asked knowingly, "Cortical blindness?"

I knew from her smile that she understood all too well. I responded, "Yes. And she
has Epilepsy too!"

Then the Mother seemed surprised and said, "You've got those seizures under
control, right?"

And I answered that we had recently found some good seizure control.

The Mother smiled and told her Daughter that Jenelle was "special." Her daughter looked to me and said, "I'm special too... I have Autism!"

Not really knowing how to respond I said, "Oh! Her doctors have said Jenelle might be Autistic too."

To which the young girl replied matter of factly, "She probably is!"

And in that instance the tables were turned on me and I didn't know how to respond or what to ask about upon hearing about this girl's Autism. I became the "Mother at the Swings." Thankfully our tram ride came to an end, and the daughter and her mother got off at the first stop. The girl waved goodbye and said goodbye to Jenelle and they went on their way.

I think our society is so concerned about offending others or being politically correct that we often fail to take the time to get to know each other. Even with my vast 4 year experience as a Special Needs Mom, I too find difficulty in asking someone else about their child.

So, in many ways, I can really relate to Vicki's latest work. I hope you enjoy it as much as I did.

New Photos of Jenelle

Just wanted to share a couple of photos of Jenelle at her Big Brother's birthday party this past weekend. She had a blast - I think she is actually posing for the camera here!

Theparty was held at Pump it Up! and the bounce houses were big enough for Jenelle to enjoy. These photos are out of focus because my camera was on the wrong setting, and they were taken through a net. Still, you can tell Jenelle was having a blast!

Monday, January 15, 2007

"I have a dream..."

Today, we celebrate the life of Dr. Martin Luther King, Jr. A man who courageously campaigned for peaceful ways to acquire equal rights for blacks. I like to think that things are better for blacks these days, and that racism is something you rarely see anymore. I like to think that, but I realize that I am white, and there may still be racism or discrimination still going on against blacks... things that I do not see because I am white.

Sadly, in comparison to Dr. King's dream, I think there is a "group" of individuals in the world that are just beginning their fight for equal rights in our society. These individuls are not separated by color, sex, age or economic status. I'd like to see Dr. King's "Dream" fullfilled in this way...

"I say to you today, my friends, so even though we face the difficulties of today and tomorrow, I still have a dream. It is a dream deeply rooted in the American dream.

I have a dream that one day this nation will rise up and live out the true meaning of its creed: "We hold these truths to be self-evident: that all men are created equal."

I have a dream that one day on the red hills of Georgia [people living with disabilities] will be able to sit down together at the table of brotherhood...

I have a dream that [children with special needs] will one day live in a nation where they will not be judged by [their disability] but by the content of their character.

I have a dream today. "

Tuesday, January 09, 2007

The Ashley Treatment

When I first heard this story, I believe the terminology I used was something like "What Fucking Idiots" Well, I'm here to say I was wrong. And please let me explain why.

I'm sure by now you've heard about this article about the little girl in Washington who's parents elected for her to have surgery to stunt her growth because she is severely brain damaged. Danielle had mentioned it to me briefly and we talked about it. My initial comment to Danielle was, "How horrible. How disgusting. But then again, a medical professional would not do something like this without validation." She agreed.

My initial reaction comes from recently learning that not too long ago (like in the 1920s) mentally retarded children were automatically sterilized by the government so that they could not reproduce and thus "create more mentally retarded children" to burden social services funded by our tax dollars. I'm not sure of the exact dates, but eventually someone fought the system and won. And after that, the government no longer had a say on what could and could not be done to an individual with a disability. They are to be treated as equals, and thus, their bodies and their reproductive organs are their own, regardless of their mental capacity. I learned all this at an Epilepsy Support Group meeting one night while listening to an attorney talk about disability discrimination. I was appalled to learn what was "automatically" done just a few years ago. When hearing about Ashley, the little girl in Washington, my immediate thought was about how this used to be something forced on someone with special needs and mental incapacities. And I do feel strongly, that my Jenelle's body is her own, and not mine to test, toy or play with.

I then found Ashley's parents' blog. And I read their story. And now I can admit that my gut reaction was wrong. I truly believe these parents have researched and studied their options. I truly agree that they are doing this not to decrease their burden as care givers, but to prolong the better quality of life for Ashley. I commend the bravery for making such rash decisions, and for sharing it with the world.

As you know, when Jenelle was 18 months, we took her to UCLA to have her tested to see if she was a candidate for brain surgery to stop her seizures. If she could have it, the surgery would have removed half her brain. Friends and family were aghast at the choice we had to make. Seriously, it is not an easy decision to decide to remove half your child's brain in hopes of giving them a normal, seizure free life. The first time I read about it, I wanted to vomit. But yet, when Jenelle's seizures remained uncontrolled, and we were facing the real possibility that any prolonged seizure could kill her, we were willing to do and try anything. Including removing half her brain. The decision was ultimately made for us when Jenelle was found to not be a candidate. Still, I wonder what people would think.

Jenelle and Ashley are very different. Jenelle is mobile, sitting up, and responsive. Ashley is bedridden and has shown little improvement. I dread the day I will no longer be able to lift Jenelle - yet I know that day is fast approaching. Jenelle is already 40 inches long, and 36 pounds. Height runs on both sides of the family, and I am the shortest woman in my family at 5'8" - most women in my family are 5'10" and 3 are over 6 feet tall. The signs are there that Jenelle will be tall someday. Should we give her the "Ashley Treatment?" I don't know, and I hope we don't. I've often felt it would be convenient to keep Jenelle on the pill when the time comes so we could try to avoid her periods. I've been told it is difficult to get these prescribed for mentally retarded children. At first I thought, "She is my child, why can't I?" but then I realized it was and is her body. As far as removing the uterus - I've read many medical reports showing the good things hormones and estrogen can do for the body. I honesty just don't know!

Although we walk in their shoes - our circumstances are different. I now realize it is not for me to judge any parent's decision about their child. We all do what's best and we all hope for the best. I just thought you should know initially I was wrong, and why I reacted the way I did.

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!