Just in Case

You haven't received the information on Bridget's website, here it is:

Thank you for visiting and keeping up with our oh, so (too) interesting family.
Happy June. Only 8 days of school left- yippee!
Love, Sara

The News

Hi Everyone. We've found out this week that it is confirmed.
Bridget has Late Infantile Neuronal Ceroid Lipofuscinosis or a more general term is Late Infantile BATTENS Disease. No one ever quite prepares you for this news and I'm feeling too many things to put them into writing right now. Here are 2 websites to find out more

We have a lot of things in the works.
First off, we're in the midst of designing a website for Bridget.
Second, we've contacted the Director of Battens Association and the physicians in charge of clinical trials at Cornell through National Institute of Health. There's also another avenue through Seattle.
We will have all the information in Bridget's website,
so again please stay tuned and be patient.
Love and prayers to you and mostly to our angel.


We are waiting on the final enzyme test to verify that Bridget's diagnosis is in fact LINCL (please refer to the previous blog entry).This should take no more than 10 days to 2 weeks. However, Bridget has clinical presentation and a skin biopsy consistent with this disease. This last test is like crossing our t's and dotting our i's. Plus I imagine we'll need this info once we decide where we'll go for treatment.

I've done a LOT of research and am fired up to get going.
I will start a website dedicated just to Bridget- she is more than deserving.

I wanted to just say thank you for the emails and calls and prayers.
I am humbled, but determined and will ask more of you in the future, I'm sure.

Please stay tuned for a new website.
God Bless.

The Real Game

We've known for the past month that Bridget has had a sharp decline in motor ability, seizures, cognition and speech. After numerous intricate tests, Dr. Smith met with us today and went over the results. He has had a few other doctors consult with him, as well. As far as all her tests, he's fairly certain that
Bridget has a degenerative neurological/chromosomal disorder called
Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL). You can google it, as did our doctor with us. This is a good medical website http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ncl
there's also a support group/website http://www.bdsra.org/#

Basically, the lysosomes in her cells are collecting the garbage (which is their job), but not getting rid of it. She's lacking a specific enzyme. When you read about the symptoms, one that doesn't actually fit Bridget is vision loss, although she has acute visual sensitivity (hence, the photo sensitive seizures). We are also waiting to have the test for the specific enzyme she is missing.

We're going to research the hell out of this as is our doctor. We're going to find the best doctor, hospital, treatment (which could be a clinical trial) there is.

Our angel, little bunny girl is doing well right now...gaining weight under the influence of steroids, which continue to help her with motor control. She's having less seizures (which are so very brief, but there nonetheless) and being very vocal about her wants and needs. She's even using some of her signs again.
We honestly live one day at a time. Sometimes, life just makes you see things in a whole different light.

We, of course, thank you for your kind thoughts and prayers for our beautiful Bridget.

Another Game

The blog began with football, but frankly, I'm tired of that game. I am not an athlete, never claimed to be one. Yet, for some reason, I'm still playing games....maybe I'll try baseball now. I was brought up loving the White Sox and married a devout Cubs fan. I root for both- so unlike a Chicagoan, I know. I also sat in the bleachers of countless games my brother played. I know a little bit about this sport, more than football. So, I retire my pads and helmet and take out the bat and glove. Lord knows, I need some wins.

Bridget has faced a very difficult month. Her seizure activity continued, the doctors went back and forth with meds and their doses, upping this, taking this away. Nothing seemed to help and she was getting worse. Bridget was losing motor ability and not only shaking, but unable to walk and feed herself. We learned that the 1st Mitochondria Myoclonic Epilepsy test was normal. Not great news. But despite that, our primary neurologist and ped neurologist wanted more done. Why was she deteriorating so quickly? We stayed in the hospital for a few days (Rush) and had continuous EEG monitoring, a skin and muscle biopsy, a lumbar puncture (spinal tap) and took her off some of her medication. I went back with her for a follow up on Mar. 31st. Not wanting to sit around and watch her suffer, the doc prescribed steroids (Prednisone) to help her. Often times this is tried when regular anti seizure medication does not help. Within 3 days (she started last Sat, the 4th), she began to walk again. Bridget took our hands and tried to dance, started exploring her toys and engaging in activities at school. Dr. Smith's words, "Praise the Lord!" She is eating well (hunger is a side effect of the drugs, as well as a host of others). Although it is a minor miracle, we still breathe cautiously. Everyday is new to us and we don't know where it will take us or Bridget. We now await the test results from Rush. Our next appointment is April 20th. We hope to have more information, perhaps even a diagnosis of what Bridget is dealing with. All we know is that the doctor said progressive and degenerative. Not a lot of happiness in those words.

We're keeping the roster full, playing the field and trying to swing the bat. We've hit a couple singles despite the unfit weather conditions. The Easter Bunny came and gave us lots of sweets. I feel fat just looking at them!

As for my health, I FEEL terrific. However, the drug herceptin has caused me a bit of heart damage. This is not uncommon. SO, no more IV drips for me- I finish early for my regular visits to the oncologist. Luckily, I have no symptoms of decreased output of the left ventricle and only need to be on some heart medication to help strengthen it. I'll have a follow up echo at the end of June. Hopefully, everything will be back on track. I plan to have my surgery on July 9th. I feel a bit sore as the reconstruction continues and am ready to get the next part over.

Hope you enjoy the pics. Thank you for always keeping Bridget in your prayers.
Let's get some runs!

What a Difference a Year Makes...

Hard to believe my game began a year ago...Feb. 14 to be exact. Although I found my lump around the beginning of February, the surgeon told me "This is going to come back as cancer" as I was lying on the table getting a biopsy. Earlier that day, I told Julie and Dave not to bother coming, I knew it would take time to get the results back. After hearing those words, however, I asked her if I could just have a minute. You think you're going to hear those words, but when you really do, it's surreal, overwhelming and totally frightening. Of course, Dave and Julie came immediately as I called both of them and sat with me as we decided next steps. They followed me home- closely, probably to make sure I wouldn't drive off the road. We shared Valentine's only with Harrison and Bridget that night. But, Dave actually gave me the red Blackberry, too, which came to pass as the perfect gift for my upcoming year.

Well, this Valentine's Day, Grandma and Grandpa babysat as Dave and I went out for a wonderful dinner, bottle of wine and silly date movie. We laughed a lot and it felt like a real date (remember those?). Been a long time since them days!

My games are easy these days....a follow up with my radiation oncologist, 5 more appointments to go for receiving herceptin (May 20 is my final day- yippee), a check-up with my oncologist- who gave me a prescription for tamoxifen (an oral chemotherapy drug I get to take for the next few YEARS), AND a reacquaintance appointment with my plastic surgeon. I had an expansion/fill and only have 2 left to go. My skin looks good, but the stretching is sore, especially on the left. By the end of May I will be good to go, but am scheduling my surgery for permanent prosthesis for the summer (that's fake boobs for all you fans out there). I finish the school year June 11, am taking a trip and then will have surgery right after the 4th of July. Recovery from this will not be as taxing as the first, thank God.

My days are filled with schoolwork, home life and the mystery of our sweet, beautiful Bridget. She is under the care of Dr. Smith at Rush, but we have also consulted a colleague of his, Dr. Baron, a pediatric neurologist, for further investigation. Both doctors suspect an epileptic syndrome called Mitochondria Myoclonic Epilepsy. We await the DNA blood test to determine if this is her diagnosis. It can be treated with anti seizure medications (which she's already taking), as well as, vitamin supplements to help her cells with the production of enzymes that she lacks. If the blood work comes back as normal, we continue the investigation through a spinal tap and skin biopsy. We hope and pray for the former because the treatment plan is realistic. As for now, we battle, breathe cautiously, wait, watch and pray to God the medicine she's on works and doesn't cause any more side effects. Although they are powerful and miraculous, they are not without fault. Bridget's hardest battle is keeping her balance, aside from controlling seizures, communication, and overall development. Some days are better, esp if it's not a sunny day. Her reaction to flashing sunlight is horrible and we really want this to subside as well. I'll admit - I'm greedy- I want cloudy days. Who would ever want that? A friend told me it figures- since I was so into the vampire/Twilight epidemic.

God Blesses us everyday. I sat with Harrison as he fell asleep tonight and thoroughly enjoyed watching him drift off through every even, sweet breath. Bridget laughs, dances to music and is ticklish, Harrison is taking after Dave with a crazy sense of humor, I have good health, a helpful husband (yes, I nag, too) a job and lots of wonderful people in my life. This entry is a bit more serene and I apologize. Just remember...a year can make all the difference. Where will we be a year from now??????

My love to all the devoted followers that are still out there!!!!

About Time

Another game is over and won....radiation is finished!!!
Despite my lack of writing, I have thought of it often. Hey, this year I didn't even do Christmas cards! I really feel badly because there is information to share. I've been put through the ringer again with radiation, yet not nearly as bad as chemo or surgery. The residual effects are a really bad looking sunburn on my left side and soreness- like I had after surgery. Back to easy calisthenics. Back to some kind of movement.

As when any new year arrives, so do the resolutions. It seems easier this year to say I WILL exercise. I really want to and feel well enough to do so! That goes for Dave, too. He gets lumped into my resolution just because. And then there's the 'eating right' theory. As many of you know, I do like to eat healthily, but there is always room for chocolate. I'll just have to curb my many cravings for sweets and munching on the kids snacks! Everything in moderation, of course.

Harrison is reaping the benefits of a wonderful Christmas- playing with his many toys including his favorite remote control tarantula (totally creepy) and many games. Bridget enjoys her bin of play food and containers of any kind. It's the simple things in life. She has definitely been struggling with her seizures and we are under full advisement of Dr. Smith, director of Epilepsy at Rush. He saw Bridget in the office on Dec. 3, and we were in the hospital for a 24 hr EEG on Dec. 17. He is much more assertive and he addresses every nuance of her seizures and development. According to blood tests, Bridget is still within the therapeutic range for the current medications. However, she is still exhibiting seizure type behavior, especially with flashing lights (photo sensitive seizures). We may be bridging over to another med in a week or so. The puzzle continues to take shape and not fit together, but we will keep working and working to get it to fit.

In Sydney, it's already 2009. I wish you and your family all the best for a wonderful year ahead. With everything in the world, country, state and home- it's time. Time for renewal of hope and happiness and HEALTH. I know it will come to us. I believe this with my whole heart and faith in God.
God Bless you and your family. HAPPY NEW YEAR!