Wednesday, June 29, 2011

Leah smiling!

Hey peeps,
I just have some time to post a quick video of Leah smiling. She was s happy after her cataract surgery, probably because she could see us again, after starting to lose her vision. She has been pretty good today, although she was awake all day and did not really nap. She is sleeping now though, which is good. We had a lot of our friends come and visit to day which is always wonderful for us. It's great to have so much support from people online, but getting to see our really good friends in person really lifts our spirits.
By the way, some people mentioned wanting to send us stuff, letters, or checks or pictures that their kids drew for Leah. We got a mailbox close to the hospital and the address is in the sidebar of the blog, if you'd like to send us or Leah stuff--->

anyway, here's the video, I'll try and post some more info tomorrow, good night!
Frani

Monday, June 27, 2011

Day 55 and counting

Hi all,
Sorry I haven't posted in a while, I feel like living in this hospital is like being in a time warp, there is no sense of time here and the days blur together as they go by.

Anyway, since last week, she's been doing really well. She is smiling a lot more now that she can see us a bit better too, which is always wonderful to see. Her eye is healing very well, she no longer has the patch, but she has a plastic clear shield over her eye to prevent her from hitting herself in the eye (which she does do, by the way, with her involuntary movements)
They are weaning her off of the Ativan, and giving her more Clonapin, and Clonadine to help with her heart rate. The Clonapin is more off a long acting version of the Ativan. She must still be getting used to the change in dosages because she's been very active today, didn't really nap much.
The Neuro team also is trying Tegritol starting tonight, so we'll see if maybe that helps with some of the movements while they figure out the diagnosis. No news yet from the muscle biopsy or the CSF (cerebral-spinal fluid) tests. On a good note, Leah will be participating in a research study which will look at her entire gene structure! The genetics team got in touch with the main researchers and they came to talk to us today about it. It's something that in 6 months to a year, hopefully will be available to the public, and they would do this test first, then use that as a guide to figure out in what direction they should head with the diagnosis. It will be a long process though, most likely about 2 months or more. They also told us that they may find something useful, but they may also find stuff that they can't explain or may not help. So, really the research will probably help them more than it will us, but it's better than nothing. We are not really going to keep our hopes up on this test though, it may not result in anything.
She has her left eye surgery on Thursday morning, and if all goes well, she should have her contacts or glasses by the following week. I still have to contact our insurance company to see if they will cover her glasses, I will probably do that tomorrow.
I can't think of anything else to mention, if I do I'll post some more.
Zev and I are going out for dinner tonight, sort of like a date, close to the hospital, so maybe later I'll post some pictures and the new video of her smiling!

Peace!
Frani

Thursday, June 23, 2011

Oh, hello there world...





Hi!
Wow, so I guess a lot more people than I expected are reading this now. So, HI! and welcome to our little Princess Leah's blog. I know that her story is being told in the UK, Italy, Turkey, and all over the US.Now that you're here I'd like to clarify some facts that some of the media outlets have been consistently getting wrong. First, Leah doesn't have seizures. She has an un-diagnosed movement disorder that LOOKS a lot like seizures, but are not. She's had 2 24-hr EEGs to confirm that and she's getting another one next week. Second, we absolutely LOVE Star Wars, but we did not name her after Princess Leia. She's actually named after Zev's sister, Leah Deborah (she goes by Debbie) and pronounced the Hebrew or Spanish way (LAY-A). You see, Debbie and her husband have been having difficulties conceiving, so we wanted to name honor her by naming our baby after her first name, Leah. Yes, it's purely coincidental that it just happens to also be the name of a certain Star Wars character. But come on, if she was named after the real Princess Leia, we would have spelled it that way, right? :D
So, that being said, we are so grateful that so many people are so interested and caring in our mission to find Leah a diagnosis and, hopefully, a cure. Thanks to everyone for you
r support and for spreading her story around the globe.
Anyway, on to the updates.

So, last night she did pretty well. I decided to give daddy a break from the floor and let him sleep on the sofa, and I slept in the bed with Leah. She actually did pretty well overnight; she
did wake up at 3 am and at 5 am because she needed her diaper changed, but who wouldn't wake up for that. As soon as she was changed though, she would go back to sleep, so it was good. I did have to hold her in my arms and rock her so she's sleep more soundly, which made my arm very sore and numb, but it was worth it if it helped my baby sleep better. And of course, what baby doesn't love to be held by her mom, right? She woke up pretty much right on schedule for her surgery, about 30 minutes before they came to take her down to the OR.
They were supposed to come get her at 7:30 am, but ended up picking her up closer to 8:15 am, since they needed to find the right containers from Pathology to save her cataract after they removed it.

We went down with her to just outside the OR and met with Dr. Velez, the surgeon who would be doing the procedure. He said they would be doing an ultrasound of her eye first, just to make sure her retina was ok and hadn't detached itself. IF that had been the case, they would need a different surgeon to fix that, since he didn't specialize in posterior eye surgery. About an
hour after she was down there, he called us from the OR and said that her retina looks great, and they were proceeding with the cataract operation. Thankfully, the surgery was a success! They removed the cataract, preserved it for the Pathology team to study AND Dr. Rao (the
pretty doctor who was interviewed on CBS) did perfectly clean spinal tap, with no blood. Yay
! Apparently, that is really hard to do, and it will give us better test results when they study the sample. She came back with her little eye patch and was very agitated after the surgery. Dr. Velez ALSO told us that it was a good thing that they had removed it sooner rather than later, because it was progressive, and it was progressing very quickly. And if that happened, she could have lost all her sight. I am really glad I said insisted that the doctors look at her eyes when I noticed something wrong. Like Zev mentioned before if your child is sick, YOU are the best advocate for them, and if something seems wrong and the doctors dismiss it, keep insisting, because most likely you are right. Parents know their children much better than the doctors do.
Luckily she did not need to be hooked back up to the ventilator and was doing great breathing on her own. Oh, did I mention she is completely off of it, she doesn't even need it when she's sleeping! So, we are thinking the apnea she was having last week was just from the sedation.
Anyway, she was crying a lot when she got back, most likely because she was in pain from
both the eye surgery and the lumbar puncture. They gave her some Tylenol and some other medication, which I can't think of right now, for pain. It was still a pretty rough afternoon for her though, she was sweating and moving so much, but luckily, my mom is back in town and she was here trying to help her sleep and taking care of her. Zev and I used that time to do an interview with Sarah, a reporter from the Daily Bruin, the UCLA newspaper. I also did a couple phone
interviews today, with the Huffington Post and ABC News Online. They promised me links to their reports when they are on their sites, so I'll post them here once I have them. Zev also
spoke with Jimmy Mac from the ForceCast.net, a Star Wars podcast. So, it's been a very busy
busy day. I still have sooo many messages that I need to reply to in my inbox on Facebook and on Yahoo.
We have also been having some strange visits from people who saw us on the news! Nothing bad happened, but they got through hospital security and came into our room, and it was just weird. So, they've had to upgrade security for the princess, since apparently, she's some sort of celebrity or something now, lol. Just kidding. But seriously, they did make things for secure for us, and she has an alias now, so only people who we know and are approved to come in, can visit. Which is good, because sometimes we want to step out and go to lunch, or something and we
want to know that she'll be safe, and some wacko who saw us on TV won't try anything while we're away.

Here are some pics!


Leah after surgery with her patch:
The team of doctors, nurses, respiratory therapists and us after she came back up from the OR:
Our family thanks you!:

Here's a funny little video of her from a few days ago :D

Wednesday, June 22, 2011

Updates

Hey everyone,
Sorry I haven't posted in a couple days, it's been a very busy past couple of days. After KTLA reported Leah's story on their channel and website, we've received a lot of attention from different media outlets. It's been great to see how much it's grown and how many people it's reaching. We have been flooded by emails and messages on facebook everyday with well wishes and prayers for our baby. It's really been amazing to see so many people want to help and be a part of Leah's journey.

Anyway, on to the updates.

So, Leah will have her cataract surgery tomorrow at 7:30 am. The neuro team came by today and told us that they will be doing ANOTHER spinal tap while she's under anesthesia for her surgery. They spoke with 2 specialists in movement disorders, one from Rochester and another from Children's Hospital LA; and they recommended doing another spinal tap since the last one was tainted with some blood, and maybe they can get better results from this new one. They will be looking for mitochondrial DNA markers, fatty acid levels and neurotransmitters again. They specialists also recommended trying the Leva-Dopa Carbi-dopa (Sinumet) again, at a higher dose. They seem to think that because she is so little and there is no previous dosage for someone so small, that maybe they were too conservative and did not give a high enough dose for it really to have any effect. I am a little nervous about that, just because of her reaction to the Sinumet last time, but they told me that it is not long acting, so if it doesn't work, at least it won't be in her system for too long, and we'll have a clear answer.
Neurology is also going to request for the Ophthalmology team to save the cataract that they remove so that they can send it to the lab and the pathologists can study it. Sort of the same thing they did with the muscle biopsy, and see if it gives them any clues as to what this could be. Speaking of the muscle biopsy, can you believe they STILL have not given us any results yet?! It's been well over 2 weeks, and our neuro docs said they are going to hound down the pathologists for answers. We are hoping we can get more information from the more specialized muscle stains they ordered.
The good news is that they officially ruled out Pelizaeus–Merzbacher disease! This is one of the scary fatal diseases we were afraid of, so we're glad that it is off the table. They are also sending out some tests for VERY long chain fatty acids, instead of the previous long chain fatty acids. Or as I call them the super-di-duper-long chain fatty acids, lol
We have gotten some great suggestions from people who saw the reports on the news or online and we are going to bring them up to our doctors, and they are open to ideas. We also got some people who sent us names of doctors as well, so we are passing those along to the team of docs as well.
Leah is now on Clonadine, to help lower her heart rate, as it had been in the 200-220s recently and it seems to be helping a lot. It is also supposed to help with some of the movements, and she has improved, although she still has them pretty frequently. She is also getting Clonapin for extra agitation, so if she is moving a lot and not able to rest, they give some of that and it calms her down. It probably seems like they are giving her so many drugs, but I really think that they help her, because sometimes her movements are so extreme, she can't nap or sleep at all at night or during the day. She gets soooo sweaty and burns so many calories that they give her extra milk per hour, plus extra calories from the formula they add to the breastmilk. She has gone up a tiny bit recently though, thank god. She is now at 5 kilos or 11 pounds, which is in the low range of normal for a baby her age. She is really tall though, so she looks even skinnier, I pray for the day when this kid gets rolls on her arms and legs.
The heart echo results came back and her heart looked normal, so that's another relief. They are ordering an ultrasound of her abdomen to recheck if she doesn't have any metabolic disorders that may be affecting her kidney or liver. As well as another spot EEG of 30 minutes, just to make sure again that she isn't having seizures. She had 2 before and they were both normal, but it's been another month, so maybe she could have developed seizures now that she's a bit older and it doesn't hurt to confirm it, I guess.
They are thinking of trying out Tegretol (Carbamazepine), which is an anti-epileptic drug that could help control some of the "fits" she has. Leah has 3 types of movements. One is the regular baby movements, intentional moves like trying to suck her hand. The other is what we cal her "dance", where her limbs sort of flail and her head bobs and jerks around, which she can't control. Then she has her "fits", this is when she goes into a weird pose, her leg sticks up int he air, she holds her arms to the side, rolls her eyes back and trembles. That's what looks most like a seizure, but EEGs have not revealed seizure activity. So, the Tegretol could potentially help with the fits. By the way, when she was on the Haldol, the "fits" where so bad, that she basically had them non-stop all day. Normally, she does some baby moves, some of her dance and every once in a while, she has a little fit. This past weekend was horrible to see her having them constantly, which is why we're happy they stopped the drug. Coincidentally, the Reglan she was on WAY back in April when all this started, which they gave her because they thought she had acid reflux, is the same type of drug as the Haldol. So, at least the docs know that for some reason she has a bad reaction to whatever those drugs stimulate in her brain.
I'm posting a video of her "dancing" so you can see some of her moves. We try to keep things positive and happy around her so that she can't sense our sadness about everything that's going on, so we sang while she moved and showed off her outfit :)




Here's a video of her when she was on the Haldol, just for comparison.
WARNING: it looks really scary to see her like this, so don't watch it if you can't handle it



Well, I guess I'll be posting again tomorrow to let you all know how the surgery goes, let's hope it goes smoothly without too many issues.
Thanks once again to everyone for supporting us, sending us messages, donations and prayers.
We really appreciate it.
It's become much easier to deal with, now that we know we are not alone in this. I've become much more hopeful than I was even 3 weeks ago. Zev and I are exhausted all the time, and we get asked by so many people "how do you do it?". The truth is, there is NO other option for us, we have no other choice but to be here for our daughter and by her side. All we can do right now is give her all the love, kisses, hugs, squeezes that we can and make her feel less afraid and so loved. She is our whole world and she is all that matters to us right now. We NEED to stay strong for her. But it helps when you have so many people who can hold you up when you feel like you have no strength left, so thank you to all our families, friends and people who are following Leah around the world. You are now part of what helps us stay strong for her and we're going to keep fighting until she gets better and can live a full happy, healthy life.

Peace,
Frani

Monday, June 20, 2011

News...and The News!

Hey there,
So, we have some news about Leah. The ophthalmologists came by today to let us know that they will be doing the operation on her right eye for cataracts this Thursday. They will plan to do the second eye next week. Since they are taking the lens from her eye and cannot insert another one, she will have to wear contacts. Although, because of her eye movements, if the contacts don't stay in, she will have to wear very thick glasses so that her vision can develop normally. They told us that it is a very simple procedure, they will suction the cataract out with some instruments. She will need to have a lot of eye exams and care for the rest of her life, because there is a risk for glaucoma to develop later in life.
They discontinued the Haldol today and there was a significant difference in her movements today. She still had her "dance" as we call it, but did not have the extreme dystonic movements that we saw over the weekend while she was getting Haldol. Actually, dystonic movement is one of the known side effects of that drug, so since it didn't help, it made things much worse for her. We are also planning on a having a sit down family meeting with the Neuro team to see what the next steps are for her as well as to get a list of all the tests that they've already done and what they've ruled out. That should be happening some time this week.

KTLA 5, our local channel stopped by today to interview us about Leah and all the support she's been getting from the Star Wars community on Facebook. I guess someone called them yesterday and they were going to stop by yesterday, but it was too late. Then a friend of ours, David Silva said he also called them to tell them about us. It will be airing tonight at 10 pm on channel 5 in LA. Hopefully people will see and be able to help, maybe some doctor will be able to learn more about her and her symptoms and help.

I'm so proud of my little baby, she's so strong and brave. I'm amazed that she continues to fight everyday and is trying to do all the things that babies her age do (holding her haed up, sucking her fingers, smiling) It's a little harder for her, but she tries very hard. She'll always have Zev and I, and her family all over the world now to count on.
Thanks to everyone for your well wishes and donations
Peace,
Frani

Sunday, June 19, 2011

Father's day




Today is father's day and day 47 in the hospital PICU. It's been really hard for Zev today, especially because her movements look worse today, and we don't know if it's the new medication, or if her symptoms are just progressively worsening
Leah got her second dose of Haldol today and it doesn't seem like it's working. The neurology team has to regroup and decide which able to tackle next, though it's obvious that it's becoming very frustrating for them to not be able to figure this out. We're hoping that with this blog, more people can learn about Leah's story and maybe there is a doctor out there who specializes in this type of movement disorder and will be able to at least diagnose her. They are thinking of maybe treating her with an anti-epileptic, even though her EEG looks normal. It's pretty much trial and error right now.
On the bright side, last night we went to go see Super 8 and when we came back, our amazing nurse, Ashley, had made a couple cards for Zev for father's day from Leah. Leah had a great night, sleeping all through the night. We gave her a little bath because she had been so agitated and sweaty. I then gave her a baby massage, and she was so chill afterwards, she just zonked out and stayed asleep all night. Ashley, made a little imprint of her hand for the card and said that Leah barely even cared, since she was so tired. It was a very beautiful gesture on her part to make them PicBadges widget on the side of the blog for those who want to show your support for Leah on Facebook or Twitter with a picbadge. I also added the link to the donation page that Jason Watson set up for us.
Happy Father's Day to all the dads out there!

Peace,
Frani


Saturday, June 18, 2011

Daddy's turn.

Hello everyone. I had a little time in between all the craziness in our lives so I thought I would stick my head in here. There are a few things I wanted to say. So here I go...

I want to thank the 3000 plus friends on Facebook that have been putting up with my posts about Leah. Honestly, I didn't think that this nightmare was going to keep going. I tend to vent there with a few one liners. I did quit at one point but when I did I had about 50 plus emails waiting for me wanting to know how Leah was doing. Most insisted I keep posting, so I did. Then as things got worse, I still wondered if I should post. I began to notice that people...strangers were beginning to become emotionally involved in Leah's situation as well.

In a matter of days, I was contacted by two very good friends of mine in the Star Wars community of fans. One, was "PJ" one of the leaders of the Mando Mercs costuming club and the other was Jason Watson, an amazing artist and prop creator. They wanted to help. At first, I had my reservations. My pride was getting in the way of things. But, I took a look at my baby and knew, I had no choice. I needed help. Rent and all our other bills were due and we were falling behind on our student loans. I didn't want to lose our home. My main focus was my baby of course. Nothing was as important. And my two friends made sure of that by starting an amazing Raffle full of Star Wars props and autographs and so many things that were donated by other prop makers and friends in the Star Wars community. In fact, at the time of this blog post, they have managed to raise between the Raffle and a Donation page close to $15,000.00!!! That is in less than a month! At the moment we have reached 6 figure proportions with our bills. And not all of that is covered by insurance. It was badly needed and the rest is going to survive the rest of this nightmare as my wife and I were having issues with our work. In other words we have been financially devastated by this crisis. And let's not even talk about car issues as well. Things were very gloomy outside the hospital as well as at the hospital.

Who would have thought that the global community of Star Wars nerds (and I'm included in that) would have come to our aid in such a way. Star Wars celebrities like Peter Mayhew (Chewbacca), Steve Sansweet, Stephen Stanton (Clone Wars Animated series) and many more, donated funds or other collectibles. I've never seen such a domino effect of kindness and compassion happen this quickly.

Everyday I open my FB account and I see messages from all over the world from people who are hoping, meditating, and praying for Leah. Or as she is now known throughout the web as "Princess Leah".Leah already has two support pages on Facebook, and two charity events, and a support button that is on over 200 users profile page. I can't even count at the number of prayer groups she has all over the world. All denominations too. People started reposting her story all over the internet. Artist have donated their creativity as well, and they have made patches and posters in support of "Princess Leah"! I've never been more proud to be a Star Wars nerd/fan!
So I thank all of you that have fed my family and kept us afloat and in our home while we deal with Leah's "mystery illness".
JASON AND PJ we LOVE YOU!

In regards to what I feel...I don't even know what to feel. I try to stay neutral in my thoughts. I try not to think past the moment or even second. I lose track of my days. I forget to eat. Because I am always with her. Always. I've come to believe that the best advocate for my child is ME. I am involved constantly with all the meetings that revolve around medical decisions. I have even participated in bringing her "back" when she wasn't breathing and fell limp as a doll in my arms.
My nerves are on hold for now. I try not to think of my own feeling or emotions since it's not about me. It's about Leah. It's about keeping my child alive. We've had so many scares in less than a months time that there is no way to describe what we have gone through. So I use the term nightmare. That is what it feels like to me. I wake up in the morning wondering when I will wake up from this.

There is no doubt in my mind that the doctors are trying their hardest to find out what Leah has. Unfortunately, what she has in not a textbook situation. It is a series of issues. They have all fallen in love with the Princess. In fact many stop by to say hello to our little one on their breaks. The waiting certainly affects me. I pray for a "cure"...a treatment perhaps from her movements and spasms. It breaks my heart. Again, it's not about me, but I'm her father. So I am affected. When I can manage to crawl into her tiny bed with her. I sing to her, read to her and talk to her. I let her know that I am there for her. That mommy is there for her. I tell her that the world is waiting for Princess Leah. I know that she can't understand, but she can feel the emotion in my voice I suspect.
It pains me to see her cataracts. I wonder if she is going to have most of her vision or more problems. Will she be able to see her mommy and daddy's faces?
I caress her as much as I can. Sometimes if I am lucky or the movements subside I rub her tummy and put her to sleep. Unfortunately as of today, she had not slept all night or day. Her movements were so extreme they would wake her. As a parent, it frustrates me that I don't have the power or knowledge to help her. I ask for her forgiveness.

It's nice to know that people care. My family, my friends, her "facebook" aunties and uncles. At times I get frustrated reading peoples messages with their own theories of what she has. But, I understand that it's their frustration as well. They want to see her get better. At times, when people vent to me about how they can't understand why doctors haven't found a cure, I feel like telling them that I feel the same way. But you see, I've probably heard hundreds of people say that already since we've been here at the hospital. Again, I know it's because they don't want to see her here. I've learned to just let them vent. And then there is my family. They worry. They worry a lot and love my little girl. They are frustrated as well, since most live outside the state and far from me. My mom managed to save enough to make it out here. It wasn't easy for her to pay for the ticket, but she did. G-d Bless her.
I was sad that she had to see her granddaughter in the state she was in. I could see it in her face. I could feel it. I felt a little bad since I wasn't really able to spend the time I wanted with her. My mind was always on my baby. I know it was hard for her to leave as well.
As my circle of support began to grow, I found it almost overwhelming to keep up. I was repeating the same thing over and over and over to everyone. Emotionally it's exhausting.I know they want the latest, but sometimes I need a little break from it to regroup. That is why we keep posting on this blog. On top of things, my hours of sleep have been destroyed. I sleep for a few hours during the night and try to sleep for a few during the day. Sleep is like gold to me. It isn't easy for me with all the alarms that Leah has connected to her. Sometimes they never stop. One is to warn us that she isn't breathing, or her heart rate....you get the idea. So that coupled with lack of sleep is starting to affect me. Sleeping on the floor doesn't help either.
People get upset when I don't answer their calls. No offence, but I'm either trying to catch up with my sleep or talking with doctors. The other day my brother-in-law tried calling me and Leah had just stopped breathing. She has gone completely limp like a rag doll. I thought she had died. It was terrifying. It's things like these that I have to deal with. There are times when I just need my alone time. Away even if it's for a short while...a shower, where I can regroup and clean the bad day away.
There are good days though. Days where she does nothing but smile at me. Days where I think we'll be out of here sooner than later. Days where I can take her outside to play. Those days seem close somedays and further away at other times. Still, despite the "battles" we fight, we move on. We try to forget our yesterdays. I need to be strong for her. I believe in her. I believe she'll make it through this. The World loves you Princess Leah, but Daddy loves you more! ;)

A different path

So, the L-Dopa definitely did NOT work, in fact, it made her movements worse. The Neurology team is going to try another drug which blocks neurotransmitters instead, to see if that works.
So far, some tests came back from genetics and everything has been negative for the one thing they were leaning toward. Now they are talking to see if they can come up with anything else. I think there are some tests that are still pending.
Lately she has been having trouble sleeping, or at least staying asleep, as the movements sometimes wake her up. I was awake with her last night from 3 am-6 am, when she finally slept for an hour; she took cat naps before that big chunk of sleep.
We're at day 46 here in the hospital and it's starting to wear down on us, but we are glad that we have lots of people supporting us online and here in person
We'll let you know when we now more
Peace,
Frani

Thursday, June 16, 2011

New Developments,

Hey Everyone,
Sorry I haven't posted in a while, there has been a lot going on and haven't had the time or energy to write anything.
So, they didn't start the Carbidopa-Levadopa last Friday like we thought they would in the previous post. There was some issue with getting the correct dosage so they moved it to Monday, which then moved to Tuesday because the Neuro team wanted to be around when she got it and on Monday they were all in clinic in the afternoon.
Anyway, on Friday night, after I got back from work, we were getting her bed made after giving her a bath. As I was holding her, I noticed that her eyes looked a little foggy from a certain angle. It was hard to make out, and at first I thought it was just glare. I mentioned it to our nurse, who dismissed it as her eyes probably being too dry, and gave her some eye drops.
As the night went on, it became more and more noticeable to me, so I asked to see the on call resident that night, the nurse said ok, but it she didn't think anything was wrong. I was on my way to the lactation room later that night and I bumped into the resident doctor and told her my concerns, since I figured the nurse still hadn't paged anyone to come see us (and I was right). She told me she would stop by, and she did, just 15 minutes later so I'm glad I caught her when I did. She came in a shined a flashlight onto Leah's eyes to see what I was talking about, and of course her pupils got tiny, so it was very hard for her to see what i was talking about. She also said it was probably just dryness of her eyes, but I wasn't buying it. The next morning there was a different resident, Dr. Feazell (who knows Leah since she was born at Cedar's) came in to look at her eyes, he did the same thing with the light, but was able to see a little of what I was talking about. He paged the ophthalmology team to see if they could come in for an emergency exam, since it was the weekend. They were able to come in and put some drops in her eyes to dilate her pupils. After that, they did the exam, with both the resident and the fellow from ophthalmology, they told us that she has cataracts in both her eyes, more in one than another. They don't really know how it's affecting her eyesight, they were not able to really look at her retina because the cataract was so cloudy. They said she is most likely seeing everything very blurry, more than usual for a baby.
On Saturday, her PICC (peripherally inserted central catheter ) line got obstructed somehow, so they were not able to flush any fluids through it. They tried to get an IV in her 4 times, but her veins kept blowing, and they could not get it. The only drug she was on that needed to go through the PICC was the Precedex, everything else could be administered the J-tube which goes through her nose into her intestines. They had no choice but to stop the Precedex and see what happens. They also gave her a Clonadine patch as a sedative instead of the Pentobarbitol, which seemed to help out and calm her. She reacted pretty well to being off the Precedex, so they didn't start it back up again after they fixed her PICC.
She started on her L-Dopa treatment on Tuesday, nothing really seemed to improve, and if it was to work, it would happen within a few hours. The Neuro team told us that because they have never given that medication in someone so small, that they were starting on a very low dose, so maybe they need to increase the dose if it doesn't seem to work. They are planning on increasing the dose tomorrow I think. It also could make things worse too, because in these types of movement disorders sometimes giving more dopamine helps, but sometimes taking away some of the dopamine works better. So, if the increased dose doesn't work, they might give something to take away more dopamine to see if that works. At this point everything is trial and error, since we don't have a clear diagnosis yet. There are still tests that are pending and might take 2-3 weeks to get those back.
The ophthalmology attending doctor came by yesterday morning to evaluate her eyes again. She was the same person who saw her last month when her eye exam looked normal and healthy. She said that they are planning on surgery to remove the cataracts in the next couple of weeks. They will do one eye at a time for the surgery and because she is so small, they can't replace the lens in her eye like to regularly do, so they will make her special contact lenses that she will wear until she is old enough to have the lens replaced (about 3-4 years old). If the contacts come out because of her involuntary eye movements, then she will ave o wear thick glasses (not a big deal, since Zev and I both wear glasses so she'll fit right in) The good thing she said is that because she has had normal visual stimulation since birth, her vision won't be as impaired as a baby who is born with cataracts, because many of the connections that the eye and the brain need to make have been made.Though she can't say what her vision will be like for sure. They have to coordinate with lots of different people for the surgery so that is why it will take a couple weeks.
Another exciting thing that happened the other day (and not a good "exciting") was while I was at work and Zev was at the hospital with Leah. This happened on Tuesday. She had been very agitated all day, was not sleeping at all, Zev tried everything to help calm her down but she was moving like crazy and really upset. She was even crying, but no sound coming out. They decided to give her a dose of the Pentobarbitol, since in the past, that had helped her out. She got her dose and fell asleep in Zev's arms, then suddenly just went completely limp. She had been having some apnea episodes again over the past few days so this was another one, but it was much worse than it had been. She was like a rag doll in is arms, and she started de-sating again, so the nurse came in and tried to wake her up but she wasn't responding. Finally, Zev have her a hard shove and she woke, but they decided to keep her on the ventilator so that if she has another episode, she would be ok.
It seems like it was a combination of the sedative and the tiredness from moving so much, so now they have her off of the vent while she's awake and they put it back on while she's sleeping. They are trying to plan for a sleep study to be done so that they can try and figure out what is causing the apnea. The sleep study will measure her brainwaves (EEG), her muscle response, her eye movements, her breathing and other aspects so it's great to see what her body is doing in all these tests. The only thing is that it is in the Santa Monica hospital so we'd have to move there for 1 night, then come back. Anyway, they are taking off the Clonapin and the pentobarbitol. The only thing she's on now for sedation is Ativan and Benadryl.

I've realized now that it's better to give updates every day or every 2 days, since I end up writing a whole novel when I don't update. Sorry for the wall of text, but around here there's something new everyday, so a weeks worth has lots of interesting stories to tell.

We also have been getting a huge support from our friends around the world on Facebook. Little Leah is proving to be a strong little fighter and loved by so many people, that she is inspiring people to come together to try and help us. The donations that have been pouring in are overwhelming, as well as the different events like the Star Wars raffle and RSO benefit patch sale featuring Leah. We feel lucky that we have so many people praying and hoping for our family. Even big Star Wars celebrities like Steve Sansweet, Peter Mayhew, Stephen Stanton and Catherine Taber are passing the word along and donating.

Leah has taught me so much in her short 4 months of life. She's taught me to live in the here and now, and to appreciate everyone and everything I have because life is short and we only have one. She's taught me that there are truly good people in the world who can and will help others when they need it, either financially, emotionally and spiritually. I've learned to be patient, not only with her, but while we wait for doctors and tests and some sort of diagnosis. I've learned that family is much more than people who share your blood; they are the people who you can count on for support and kind words. This is by far the hardest thing I've ever dealt with in my life, and I don't know how long we'll have this little angel by our sides, but I'm going to love her forever, no matter what.

I'll post more tomorrow
Peace,
Frani

Thursday, June 9, 2011

She likes to scare us, doesn't she?

Hey guys,
Yesterday was a bit rough, she was awake most of the day and very agitated. She didn't really nap at all, and was moving like crazy most of the day. When she finally did fall asleep at around 7 pm, she slept for a while, which I'm assuming is because she was so tired out.
This is where the scary part happened. She was doing fine when suddenly the alarms started going off and letting us know that her Oxygen levels were going down to 70%. The nurse came in, and usually alarms go off all the time, and sometimes when she moves the monitor doesn't read it properly, but this time it was real so the nurse upped the percentage of oxygen that was flowing into her trach collar. Her respiratory rate was also low (in the teens and 20's, when it is usually in the 30's-40's range), she had stopped breathing for about 10 seconds. But eventually she took a breath and was better, but her breathing pattern was still very weird, she'd take short shallow breaths, then a big gasp of air, then back to the short breaths, sometimes holding her breath in between. This little apnic episode, was most likely caused by a bit too much sedation. She had gotten a dose of Pentobarbatol at 7 pm, because they were removing her trach sutures and they didn't want her to be so agitated. She then got her scheduled dose of Ativan at 8 pm, an hour later. And all this happened at around 8:30 pm. So, they thought it could be related to the sedation.
They took some blood and checked her blood gas levels, which didn't look too great. So they decided to place her on the ventilator for the night, just to play it safe and give her some support overnight. This morning her blood gas looked much better so they took her off the vent, and back on the trach collar.
They also found some bacteria that grew from the cultures they took from her trach secretions. However, the antibiotic that they were giving her, that seemingly helped her white blood count go down (from 21,000-7,000) doesn't necessarily treat the bacteria that they found. So, they are going to continue giving her the antibiotic she's been on, and if anything changes they'll change her to the other antibiotic. They don't want to start her on the other one yet, because it has a higher risk for kidney toxicity, and maybe the bacteria that they found is just regular bacteria that she has.

Today she did better, she was much calmer than yesterday. She had another incidence of what seemed like sleep apnea where her respiratory rate went down to 9-10, but her oxygen saturation didn't go down and it resolved on it's own. So, she started to breathe better after a few seconds. The doctors where still concerned, since this time the sedation had nothing really to do with it. So, they are thinking of doing a sleep study for her apnea.

Neurology team came in today and told us that they wanted to give her Clonazepam (Klonapin) instead of the Pentobarbitol. Mainly because the clonazepam does not have any contraindication when taken with the Carba-dopa Leva-dopa they plan giving to her. They are going to start on that treatment tomorrow, so hopefully it'll help with some of her movements.
For now, it seems like the Klonapin is helping her, she's sound asleep and a lot less agitated.
We'll see tomorrow what new things may come up, it seems she like to keep us and the doctors on our toes a lot with these little scares.

Thanks
Frani

Tuesday, June 7, 2011

Waiting game



Hey everyone,
Just wanted to give you all some updates!

As of yesterday, she is breathing on her own without the ventilator. So far she
is doing great without it, she still has a tube with 40% oxygen and some humid air flowing just outside the trach opening to give her some support. The humid air helps keep her secretions moist so that they don't get hard and clog her airway (gross, I know...sorry 'bout that). It's a little scary when she starts to gag and cough, and you see all this nasty gunk come
out of her trach, but all the nurses and RTs (respiratory therapists) were all excited about it. "That's great! It means she is able to cough it out on her own and needs less suctioning from us, which can irritate her" So, at least it's normal, but still a little freaky right now. I assume we'll get used to it as she has it longer.

They started giving her Riboflavin yesterday on recommendation by Ne
urology, because of the fatty tissue they found in her muscles, which can sometimes be related to low riboflavin. She didn't seem to be tolerating it very well, because she started vomiting, and would do it 2 hours after she'd get her dose of it. At first the doctors dismissed it, thinking that the increased secretions were getting to her stomach and upsetting her tummy. But I definitely noticed a relationship between her getting the vitamin and her throwing up. She thre
w up yesterday during the day 3 times, and then again at night. Then this morning at 11 am, 2 hours after her dose, she did it again, and this time it was yellow which was the color of the
riboflavin. So, then I told the fellow in the PICU that it had to be related and she agreed. She told the attending doctor and he took her off of it. So, she's been off it for most of the day, since noon, and has had no vomiting episodes.

She also had a bit of a fever this morning at around 3 am, it was a low grade fever of 38 degrees C (100.4 F). They did some labs and her white blood cell count had gone up, which indicated that she maybe had some sort of infection. They think it could be from the trach getting some bacteria or something. They started her on antibiotics and her fever is gone, it was only one dose of it. She should be on the antibiotics for 7 days. Her temperatur
e has been fine since then. The only issue is that when she spikes a fever, her eye movements get much worse so she was doing a lot of eye rolling and blinking today. She's much more calm
now though.

I'm so happy because we've been able to lie next to her in the bed and snuggle with her. It really helps her fall asleep when we're next to her. Which is another improvement, since she used to require sedatives to sleep thru the night, now she is falling asleep on her own and is not as agitated as she was just a week ago. Even some of the nurses who are seeing her now, and hadn't seen her in a week or two could tell the difference. She still is not 100% back to "normal", like she was before she got sick; but she's not as bad as a month ago. It could be the IVIG, who knows, but to us it's a good sign. For now, we're just hoping she continues to improve.

Neurology and Genetics had some updates for us. They found an issue with one of her
chromosomes (I think it's Q1?). There seems to be a deletion within the chromosome, and they don't necessarily know what that means. It could be related to her issue, but they are going to do some more studies to find out what that deletion could represent. They are also getting us to get our blood tested to see if either of us have the same genetic mutation. The neurology attending doctor told me that the muscle biopsy results so far, according to him, don't really correlate to her movement disorder. He thinks that maybe the extra fat in her muscle could be the reason why she has a low muscle tone, but he doesn't think it has to do with the movements. They are still doing more tests on the muscle biopsy though, just to rule out if it's a mitochondrial issue or not. He also doesn't seem to think the chromosome issue is related either, but they are still looking into it. He says the most relevant clue so far is the low
neurotransmitter issue. They can correlate that with a movement disorder, which is why they
want to try the Carbo-dopa, Leva-dopa; a medication they give people with Parkinson's.

For now, the plan is to wean her off her sedation (she is completely off Fentanyl). She is still on a low dose of Precedex, they are weaning it little by little each day. As well, as her doses of Ativan, which will start to be every 6 hours instead of every 4. The neuro team wants to see what she looks like without the sedation in her system, that way they can evaluate what she looks like before the Dopa treatment and after. It would help them see if the medication is helping or n
ot.

Tomorrow she'll be getting her new trach. They say it should be a pretty quick simple procedure, hopefully nothing too exciting happens with that. They are going to start teaching us how to care for it, cleaning and suctioning; even how to change it out ourselves(!). It's a bit scary but the nurses assure us that they won't let us go home until we feel comfortable with it. They
have this freaky looking doll from the 50's I think, that they use to teach about the trach collar. I don't understand why they can't get an upgrade on the doll, it the freakin' MATTELL children's hospital! Hello? Anyway, I'm rambling because I'm tired and it's 11 pm.

Just wanted to say a HUGE thank you to all the people who have spread the word around about Leah and what we are all going through as a family. Everyone who reads this, you're going through it with us too, and it means so much to us to have support from our friends, our family and even people who don't even know us. The donation page and Star Wars charity raffle, is incredible how much people are willing to give to help us out in this time of need. And once this is all over and I have more time to do it, I'm sending everyone who has donated a personal message to say thanks.

We actually stopped by our place today and picked up some of her clothes that she could wear while she's in the hospital, mostly socks, leg warmers, headbands, pants and some skirts. We brought her Star Wars tees just to show our thanks to all the SW community that's been helping out.
I figured you'd all want to see more pictures of the little princess so I'll add some below.
Enjoy, good night and keep Princess Leah in your prayers!

-Frani














Sunday, June 5, 2011

One day at a time...

Last night she had a good night.
Our nurse told me she basically slept from 11 pm to 5 am without the need of any of the "as needed" drugs she's on, like Pentobarbitol. She is on Precedex and Ativan around the clock as well as Fentanyl; with Pentobarbitol, Benadryl and Ativan every 2 hours "as needed". They've been weaning her off the Fentanyl slowly and she's been responding really well, and they should be taking her off it later this afternoon.

Her trach looks like it's healing well according to the ENT (ear, nose, throat) doctors, and they suggested that they can start weaning down her ventilator settings today. They have her trach change scheduled for this coming Wednesday then hopefully the track that her trach is in will be more developed and it won't come out like it did last Monday.

We heard from the Neurology team yesterday about some of the initial results from the muscle biopsy. It looks like they have found some droplets of fat in her muscle. They still can't tell us exactly what that means yet, and they are continuing to do more in-depth stains to the muscle tissue to see how it reacts. They are thinking that it's looking more and more like it could be mitochondrial, but they still don't know for sure yet. It could also just be metabolic. Again, they are going to continue investigating before they give an exact diagnosis, as they still don't have one yet.

So, I mentioned that she got her IVIG doses last Tuesday and Wednesday. Neurology told us that it can take up to 2 weeks to have an effect, IF it works at all for her. I don't want to get too hopeful but we have noticed some of her movements decrease a bit. I don't know if it's that the IVIG is working or what but I'm happy with that. It's like I told Zev today, "We have to just take things 1 day at a time, and not "get our hopes up" but enjoy it if she's looking happier and better. We've been getting her to smile more often in the past few days as well. That is a good sign, I think, because I know that she is still responding to us and communicating. She'll sometimes start to cry or least look like she wants to cry but no sound comes out. It breaks my heart to see her cry but at the same time I see it as a positive thing, since crying is another way for her to communicate with us.

Here's a video comparison from today compared to last month before she came up to the PICU (the sound you hear was her Laryngomalacia, which they fixed when she got her trach)
Last month: May 5th, 2011



Here is a video of her from today (June 5th):
(towards the end of the video she starts smiling)



Wednesday, June 1, 2011

Trach Drama, tests and medications


Hey everyone,
So she had her trach done on Friday, and everything was going fine for a couple days. She was starting to get weaned off of her Precedex and the ventilator. We had adoptive parents come by on Saturday and were able to hold her and rock her in the chair. Her godfather Frankie also stopped by on Sunday night to see her and to take us to dinner, which was really nice.
By Monday morning, she was completely off the vent and on a small dose of Precedex. It was great, her godmother, Kristen and her husband Walter came by that morning to see her and was also able to hold her for a while. She was more awake beca
use they were weaning the sedation off, so her movements were coming back and she was moving a lot while she was awake. That day the nurses encouraged us to get out and go to lunch, so we could walk around and get some fresh air.
While we were at In-n-Out the doctor called us to let us know that they were rushing her to the OR because her movements had been so extreme that they tube of the trach got displaced and lodged in a flap of tissue instead of her trachea. So, of course she started having issues breathing and getting a good oxygen saturation. Thankfully they were able to get the ENT doctor to quickly look with the scope and he could see that it was not in the correct place.
They were able to get her to the OR fast enough and changed it our for a new trach that was a bit longer than the previous one.
They kept her on a paralytic over night and some Fentanyl f
or pain as well as some Ativan to help her sleep. She remained on the paralytic for a bit yesterday but they slowly took her off of it and she is now only on Fentanyl, Ativan, Propofol and a small dose of Precedex. They want to keep her sedated so that she doesn't move and displace her trach again. It takes a week for most of the scar tissue to heal over the trach so that it creates a nice clean track for it to go in. So next Monday they will switch her current one out for a new one.
Neurology also has started her on the IVIG to see if that will help, the potential benefits outweigh the risks at this point, so they started her first dose yesterday and are continuing the second dose today. They will try it for a few days and see how she responds, and if they don't see an improvement then they will try the Carbidopa-Levadopa, for the neurotransmitter replenishment. That medication is basically what they give Parkinsons patients for the shakes and tremors they can't control.
We are still waiting for results from the muscle biopsy to check for mitochondrial myopathy, the cerebral spinal fluid (CSF) tests to confirm the neurotransmitter movement disorder and possibly narrow it down to a diagnosis; as well as a test to screen for Pelizaeus -Merzbacher disease (PMD). So far, they have done another screen for Prolactin levels, and it seems elevated which correlates with the low neurotransmitter, so that is another clue that sort of points to the idea that it could be the neurotransmitter issue, which they told us could be Biopterin Deficiency. But again, the CSF test will be able to confirm it better. They might do some more
genetic tests, but since she just got a blood transfusion and her hemoglobin is still a bit low, so they are going to wait before they take more blood from her.
We are very lucky that we have such a great team of nurse and doctors working on her case and we can tell they are very dedicated to figure out her diagnosis. We also had some friends start a donation page and a Star Wars props raffle to raise money for us. It's such a blessing to have so many people donate and want to help, it is really amazing and touching.

Please keep Leah in your prayers and hope that this gets resolved soon.
Thanks
Frani

Here she is on Sunday after she got her Trach, i was tickling her and she was laughing :)