Sunday, December 11, 2011

A Diagnosis?...

Hi everyone,

I'd like to start by saying thank you to everyone who takes the time to read our blog, share their comments and pray/hope or the best for Leah. I know that we have so many more people who read this than we  originally thought would be reading, as it started as a blog for our family and friends. But I've realized that everyone who reads this is now just that, our (very large) circle of family and friends from all over the world. So, thank you for taking the time and for being patient with us as we don't post as often as we'd like to.

The truth is that this week has been one of the more difficult ones we've had recently. I think the last post was related to Leah's visit to the PICU during November. We ended up staying until the day after Thanksgiving, Nov. 25th, as she was on lots of IVantibiotics and they couldn't send us home with a PICC line since it has such a high risk for infection. The day after the previous post (11/18), Zev's son Nic, came over for Thanksgiving from Texas. He wanted to spend the holiday with us and his new sister, and stayed for about 10 days. We had hoped we'd be home for Thanksgiving, but we would have been rushed and she wasn't ready to go home yet, so we stayed an extra day. We were really lucky, that one of the supporters from Leah's Angels on Facebook contacted the local Whole Foods Market and got them to donate a whole dinner for 6. It was really unexpected and welcome, as we weren't planning on having Thanksgiving at the hospital. We invited a few friends and my mom, and we just had our diner there in the hospital room at Leah's bedside. It was probably the best Thanksgiving I've ever experienced, since the people I love the most were there to share it with us and we were all very grateful to have our precious angel with us for the past 9 months. Grateful that she continues to fight and hang on and enjoy life, even with all the odds against her. We also had KTLA news interview us at the hospital to give an update on Leah's condition, and to report abou the donated dinner from Whole Foods.

The update that we didn't really talk about much on the news report was about Leah's most recent MRI. If you've followed her story from the beginning, you'll know that when she had an MRI done last May, they didn't see anything that could explain the symptoms she was presenting. She had a new MRI in November that gave them new information on her possible diagnosis. They saw som shrinkage in her brain, which they don't know if it's related to the seizures she suffered, or if it's an indication of something. But, they are planning o doing another one in February when she turns 1, to see if it looks the same or not. They also found some lipid and lactate peaks in the area of her brain that controls movement. They told us that they would be comparing it to the genetic exome sequencing test that they did a few months ago to see if they could decipher it.

So, we went home on Black Friday and everything seemed fine for a few days. However, we started noticing that she was still very groggy and sleepy throughout the day. This is most likely due to all the new med she's on for the seizures to stop. She used to be on Clonopin and Tegritol, and was now on those as well as Ativan, Keppra and Topamax, more seizure meds. So, of course she was sleepy since these all make her be sedated. We decided to wean down on the Ativan since it's basically the same thing as the Clonopin, just not as longer acting.

The Saturday after we came home (12/3 so last Saturday, not yesterday) she started needing to be on the vent more during the day and was even de-sating (losing her oxygen saturation) while she was on the vent. Of course, this was most likely because she was relying 100% on the vent to breathe for her, and the vent settings were set to only support her while she is asleep. We also noticed that she hadn't been peeing as much as she usually did. I know it's weird, right? You normally wouldn't think about how much you pee or not, but since babies can't talk, the way that Leah shows us she is sick is by doing just that, not peeing. We called the pulmonologist, since the de-satting was starting to worry us, and she said to call the ambulance to take us to the ER.  We decided to call them, since we didn't want to risk taking her in the car. They showed up and she was still stable, but as we explained our concerns to them, and asked them to please take us to UCLA instead of Cedars Sinai, and they actually agreed, as long as her nurse, Betty, rode with them in the back of the ambulance and helped bag her trach (give her oxygenated breaths). We followed them to the hospital and for the first time, I felt relatively better than I usually do when I'm driving to the ER. I guess she wasn't doing quite so bad yet, so it wasn't as scary as before. While we were in the ER waiting with her to be seen, we noticed that her temperature was going up and she was starting to have movements that looked like seizures again. Luckily, about 10 minutes ater we got there, her head neurologist came in to see us in his regular clothes, no labcoat. He had been in the building checking on something else on another floor on his day off, and heard that Leah was int he ER and wanted to come check up on her. What a difference from our last ER visit! We were lucky enough that he was right there when she was seizing, so he ordered a 24 hr EEG right away and was able to prescribe the medications right there for her, rather than waiting as along as we did last time. She also started getting a fever of 102.5 and we were lucky that all this happened while we were at the ER and not at home. Anyway, she did have a few fevers and they figured out that she had C Dif, a stomach infection that is developed after you have a long course of antibiotics. They basically kill the normal flora in the stomach, and leaves you open to getting infections like C dif.
So, she's been in the PICU for the past week and a day.

Now to part I know you're curious about, the possible diagnosis.

Last Wednesday we were told by our Neuro and Genetic doctors that they are 99.99% sure that what she has is Mitochondrial. 


Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common. Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems. Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.
 United Mitochondrial Disease Foundation http://www.umdf.org/site/c.otJVJ7MMIqE/b.5692879/k.3851/What_is_Mitochondrial_Disease.htm 
So, basically, every time she gets sick, she suffers from "energy crisis" and her bosy isn't able to delivery enough energy to fight the infection and support her other systems simultaneously. Which is why she becomes more dependent on the ventilator to breathe. There is no known treatment, no known cure either. There are some vitamin therapies that can be helpful sometimes, though not always, like taking CoQ10, Riboflavin, Thiamine. They are also going to try putting her on a Ketogenic diet. If you haven't heard it is a diet that is low in carbs and high in fat and protein. This is the same thing your body goes through when you're in starvation mode. You don't eat anything and your body breaks down muscle and uses protein and fat for energy. When that happens, you make Ketose (as opposed to Glucose) and Ketose has been found to help protect the brain. This state is called Ketosis, and by giving her low carbs and high protein, she'll use Ketose for energy which could help slow the progression of her mitochondrial disease, and possibly help with some of the symptoms. This is another thing that only works occasionally. I think I got a few emails and comments a few months ago from people whose kids had tried it and it worked for them. So, we'll have to wait and see. She probably won't start it until January.

I know, I know. Why is it only still 99.99% and not 100%, right? Well, as I understand it, the genetic test that they did the whole DNA sequencing was done as a research study. So, technically, they can't use those results to support a diagnosis, so they are currently conducting a few blood tests to see of they can confirm it 100% sure, and then it will be official. The tests are really complex and could take some time to come back, but for now that's sort of where they are headed and where we were thinking it was headed too. So, for now, it's still "unofficial", but they're pretty sure that it'll come back positive.

I have to say, this came as a shock, but not as bad as I thought it would. We always knew that they could diagnose her with something fatal. And that never stopped us from believing in her. We've known for months that she may not make it that much longer, so really, nothing has changed. We're going to continue to love her, and play with her, and make sure she is the happiest baby in the world. Because she doesn't have a lot of time, but she's already done so much for people in so little time. We just need to continue supporting her in everything she does, in all her achievements, no matter how big or small. But, it's like my aunt told me on the phone: "This child has become a symbol of unity and hope for the world. She's brought people from across the globe, from different beliefs and languages, together for one cause. Now, it's up to you to become the parents of this little person, and be strong for her now, the same way she's been strong her whole life".

It's true, she has become a beautiful symbol of unity and a reflection of human nature. I truly believe that people have a little of both, but are mostly good by nature. Doing something good, makes you feel good. That's why I love donating blood, I feel like I'm able to contribute in helping save someone's life. People, they see someone like Leah, and they can't help but feel like they need to help, or send prayers, or send positive and uplifting messages to us. I think we're so used to seeing all the horrible things that happen in the world and feel powerless to stop any of it. Then, when we're given the chance to become a part of something that could help someone, we feel empowered to do the best we can for that person.

I'd like to start networking with other parents our there that have blogs about their kids so that people who pray for and support Leah, can also do the same for other families. Who knows? Maybe, you'll meet another baby like Leah in your same town and are able to help them too. Maybe treat them to a picnic or playdate with your kids, I don't know. Well...maybe that's not the best idea, but you know what I mean :) Or just go donate blood! :D

Anyway, I need to figure out a way to embed a photo gallery or something, adding photos to this blog is annoying. I might just add a Picasa album with all her pics,s o you can see how big she is now!
You can also see her most recent updates on her facebook page, May the Force be with the Princess Leah: http://www.facebook.com/pages/May-the-Force-be-with-the-Princess-LEAH/166607313399901

Peace!
Frani

Thursday, December 1, 2011

CURVE BALLS

Hello everyone. I know we are once again late at posting. We've gotten many, many, many emails and pm's from all of you around the world wanting to know how things are with our Baby Leah. I need to let you know that I wasn't intending to write on here today, but I know that many of you have heard via Facebook about all the things that recently happened to Leah. I'm not going to lie...it was really bad this time around. Maybe as bad as the first few months of Leah's life when all her muscles and shakes were causing such extreme movements that she could not sleep, eat, or even take a breath.

I ask that you please bare with me. It's not easy for me to write on here. In fact, Frani is the writer of most of these posts. I am not as good at dealing with the recent memories of these events, since it takes me a long time to heal from these. Nor will I pretend to be this eloquent writer. My heart and my mind sometimes do not work in unison. My mind pulls me to one side, while my heart pulls me to the other. Unfortunately, that is how people can sometimes become unraveled. I'm aware of that, I do my best here to keep you informed with out letting that happen.

For now, I'll share with you the latest curve ball...or should I say Curve Balls?

Once again, I am awakened by a flurry of alarms. Leah is hooked up to many machines that keep her alive and monitored. As I try to get up my back begins to crack furiously from laying next to her on the cold floor of the hospital. For a split second, I think I am in a dream or possibly the beginning of a nightmare.But, as I look around, I realize that indeed, I am not. Frani is sleeping on the sofa. Her mouth half opened, her eyes blocked by her arm in hopes of keeping the morning light out. The smell of alcohol and some of Leah's medication make it to my nose. More proof that this is not a dream. Still groggy, I turn. And in-between all her machines, I see a short doctor, young looking and dressed in all his best preppy attire with glasses (who's name I do not want to mention...yet) who then turns to me and says" Gee, what kinda candy did ya guys give her this Halloween?"  Still groggy, it takes me a few seconds to digest his words. I think to myself, I could pop him one here, right now, but what is that going to solve? Still my anger at his stupid comment makes me boil. "Well, maybe if you guys would have moved faster to get the approval of the spot MRI this would not have happened." --My patience is thin. He ignores me, chats with the nurse and leaves the room.
It always amazes me how disconnected some doctors, and brilliant ones I might add, have NO bedside manners. I know they have to be like that, but wouldn't the challenge be to find the perfect Yin and Yang of it all? This is not to say that we do not have our Angels within her team of doctors, but all it takes is one to ruin it and add to the already painful issues you have been enduring with your baby.

To MRI or not to MRI, that shouldn't have been the question!

For few hours  I have been writing to two or Leah's team of doctors. One tells me take her to the hospital, another tells me that some of her movements are caused by her "Mystery Illness" diagnoses and that we should wait a bit and see how it goes. Betty, our day Nurse is worried. Very worried. I assure her that I have been in contact with Leah's doctors and this is what they are telling me. Plus, we have already learned that hospital visits are not always the best due to the infestation of viruses and sicknesses that permeate throughout. We've been to the ER so many times, I have quit counting. Each time, they send us home and tell us, "these are not seizures (again), this is the way she  looks and acts because of her neurological condition."  Nurses in the ER panic when they see us come in, they "look" like seizures so they respond to them as such. This time it was different.
Throughout the day Leah began shaking furiously.We began to think it was a cold coming on or fever that was making her shake. Frani holds her for many hours. Betty is still concerned. The look of worry in her face is still there. We give Leah some meds to help with the shaking and also give her a fever reducer. She continues to shake. We decide (based on the instructions of our doctors) to wait a bit before taking off to the ER in hopes that all we were doing would help her. Although we dread going to the ER, we know that if we have to go...WE GO!
Frani and I decide to take the time to build Leah's new "big girl" bed in the meantime. We found that we could take care of her better that way and we could snuggle her and love her more, rather than being inside a crib and just caressing her.
 Within a flash, Frani (she's the Macgyver....and I the Martha Stewart) builds the bed. We both occasionally poke our heads out of the room to keep up with Leah's situation. By this time, we are both extremely worried....extremely.
Leah hasn't stopped shaking. Again, these are not her typical shakes....they increase....I begin to start thinking that maybe we need to get the hell out of here and to the ER. Although I dread going again, I know it has to be done.I email and call the doctors to let them know that we are on our way to UCLA's Hospital ER. I've done enough waiting....watching...I'm done.
We would call for an ambulance, but they'd take her to Cedars which is only a few minutes away. That would be a mistake since Cedars (in my opinion) isn't suited for issues like the ones Leah has, and like the last time she would need to be transferred to UCLA eventually. A feat that our wonderful Health Care System makes a virtual impossibility.
I pack the car like an ambulance. I always have a oxygen tank ready to go in the car, but I have to bring the Ventilator, the suction machine, the ambu bag (in case I have to hand bag her to help her breath), and a whole mess of other things before we take off. Meanwhile, Frani is prepping us to leave and getting the baby's meds in order among other things. She keeps calm. I'm on Emergency mode. Betty, my poor Betty
is holding my baby..."her" baby in her arms while mommy and daddy are making sure we have everything.
Betty talks to Leah throughout. In-between things Frani and I give her a quick squeeze and tell Leah we love her. "Hang in there Leah!"
Betty decides she wants to ride with Frani. She didn't have to do that. Once the baby is on it's way to the hospital, and leaves the house, the nurse does not have that responsibility anymore. She's done. But NOT Betty. This 5 ft nurse knows her stuff and there is no denying her love for Leah. Betty gives me her keys and tells me that she'll ride in the back with Leah keeping her going ,while Frani drives quickly to the hospital. Everything is ready and we take off.

SPEED RACER

My heart is beating furiously. My anxiety to match. Still, I find somehow to be distracted by my prayers on route to the hospital. We are 20 minutes away or so, depending on the traffic. I have Frani on the phones speaker. "How is she doing?" I ask. "Still shaking....a lot."  Frani has always been honest about things when it comes to Leah. She hides nothing from me and I do the same. Her voice tells me she is worried but it also tells me she's in Emergency mode. We are cautious, careful, and above else making sure that Leah gets to the hospital safely.
Frani punches it. I try to catch up in Betty's car. Damn it. A few a-holes cut in front of me. I maneuver out of  their way. I can still see Frani ahead in our SUV. This time I thank God for those that gave us this SUV. It runs! It better than runs, it is perfect for this. All we need is a siren and lights.
It occurs to me that I should be getting in contact with UCLA's ER. Luckily, I have voice command on my phone, and I am able to contact them.
"Hello? This is UCLA Emergency Room"
"Yes, I have an 8 month old child with an un-diagnosed movement disorder on her way. She is having some issues and de-satting (meaning, her saturation was going down...not good). She is shaking furiously, but under some medication. Please be ready for her. We should be arriving...." I am interrupted...
"You what?  Who is this? Are you an ambulance?"
"No, I am not, an ambulance, we are taking her in a gray SUV..." He interrupts again
"You are in a car, who are you, how would you know  she is de-satting,?"
I'm getting angry " Please listen to me carefully, I am the babies father, the baby is shaking uncontrollably and is de-satting"
The voice on the other end says "How would you know that she is de-satting?"
"Because she has a pulse sox connected to her at all times and because I know my baby better than anyone...now please don't give me any crap and have your people be ready for her". I am exhausted already by the conversation.
"Okay, okay, calm down...just pull up at the back we'll have someone ready and waiting for you."
 Frani and I keep communicating carefully.  Finally, we have reached the UCLA area and head to the back where the ambulances dock. We are greeted by two male assistants.  They quickly help us unload Leah and rush her to her ER room while Frani is giving them all her information. I park Betty's car and run in.
Some of the nurses are familiar with "Princess Leah". She's become a little celebrity there.  Around the corner I can hear " Oh look, it's Princess Leah!" "Leah's back"and so on.
Quickly an assessment is made by a resident doctor. All the nurses are hovering around Leah connecting devices, unhooking ours, and making "it" happen.
I turn to Leah and kiss her soft face. She looks like she is somewhere else. I worry even more. "Leah, baby, it's daddy...I love you" Frani kissed and caresses Leah as well while giving all the nurses a run down on what Leah  has gone through both at the hospital and at home. Despite Leah's notoriety at the hospital. Some still don't know her well enough to understand how to take care of her.
After more than a few seconds of chat with Doctors and Nurses, Leah's movements begin to get worse....much worse.  Frani and I get extremely worried now. We have never seen these movements before. The nurses are curious as to what these movements mean or are they just part of Leah's disorder?
No, these are not. Frani and I both agree this is way different. I try to keep my cool and so does Frani.
The Pediatric Resident comes in to see us. We give him our report of things. He looks at the baby and then walks out. My thoughts were "Where the F is he going?"
The Respiratory specialists know Leah. Although happy to see her, they are not happy with the circumstances. They quickly attach whatever they need and move on.
More nurses come in. Most of them I know from the many visits to the ER. Concern is on their faces. It worries me more. I turn and look away for a moment, trying to locate where the hell that other doctor was. Ah, there he is. He is on the phone. I rush over to him.
"Things are changing...you got to believe me....I know my daughter and this is NOT they way she moves...I think this time these are real seizures."
"I'm on the line with the On Call neurologist" he politely shews me away. I run back to Leah's room.
By this time, it looks like she is ready to implode. Her shakes are rhythmic, her eyes occasionally are rolling back...then she is out...BAM! She is back in seconds with these rhythmic movements!  This is not right.
Back and forth we go. Frani videos Leah's movements in desperation to show the world and Leah's doctors what is going on. We have been waiting now for almost 3 hours and Leah is not getting better. I dash again to the same doc and tell him he needs to help now or I'm going to blow up on more that just a few people on her.  He tries to calm me down and tells me that the on-call neurologist said that we should wait "And stay the course"  because Leah's disorder causes her to have these movements when she is ill. "NO! I'm want a spot EEG done like you said earlier we might need" This isn't normal for her.
While I am arguing, begging with this doctor. Frani has had it, a mother can only take so much! She reaches for the first Doctor she sees. The doctor is caught off guard. She pulls her into the room.  "this is my baby! These are seizures right!?!"  A calm and stern looking woman wearing a doctor's badge is trying not to show her concern, but I can read faces well, she is not happy about this. "Yes, they definitely look like seizures" she says. She orders them to prepare medications that will help Leah with her assumed seizures. The pharmacist that works at the ER is familiar with us. I nice man.  He smiles and shakes my hand before leaving the room. to fetch Leah's meds.
By this time, 3 hours into it a spot EEG is finally ordered. Our new doctor friend and hero is making things happen the way they should have. The EEG tech rushes in the room. He looks at Leah and mentions something under his breath. I can tell he knows what is going on. He quickly attaches leads to the top of Leah's head. Then the moment the EEG monitor goes on. His face confirms what Frani and I have been fighting for. She is in Status. He rushes out of the room trying to get Dr. Lady Hero again. He is outside the room letting her know that this is indeed a seizure and the situation is not good. Leah begins to move even worse. The meds are not kicking in yet. Daddy's little trooper is fighting the fight. The worry on the EEG tech's face is still not good. I'm angry....very very very angry now. I could strangle the on-call neurologists neck at this point. I hope never to see her again. Frani and my thoughts were, HOW CAN YOU ASSESS a situation without seeing it? HOW??????? Are your thoughts based on assumptions. Or do you just want to sit at home; since it's a weekend ,and not get your ass to the hospital where you are needed desperately? I know that she had that opportunity but she apparently didn't take it. Isn't this what you went to school for? Yeah, life sucks when you have to get up off your ass to go in on your day off, but I'm not happy about being in the ER AGAIN for the gazillionth time either!!!
Peds comes in again. They are looking at Leah. Eventually Leah is admitted. They need to get control of the seizing. Hours have passed and the meds they have given her are taking their time to work. Hours again. And although somewhat subdued, they are still there. I panic. But I am quite about this. I know from my research these many months that Leah's brain could be damaged by seizures of this magnitude. I pray. I worry. I pray. Most of the time, I'm also praying for the doctors. Whether they're the "bad" ones or the angels we deal with more often. I pray that they find the knowledge they need and hopefully some love for our Princess.
Leah is taken to the Intensive Care Unit. Frani is in the room. Our old nurses from the last few months are there and most come to greet us with hugs. They know. They know how hard it is for us. They know how hard the world wants Leah to survive this and make it through. But, they keep quite. They've seen the reality of it all. I'll take their smiles.
By this time, the EEG tech is hovering around the out the doorway. I greet him. He apologizes to us. He could not believe that it took them that long to figure that it was seizure. "It wasn't you, I was angry at" I tell him. I appreciated him coming to check up on Leah. I hugged him. He began to give me how he got involved with this case. "I don't live that far away. I don't know why it took them this long to get me here."

ADMITTED
So here we are again.  I go to hug Frani and tell her I love her more than ever. We also know the reality of what happened and has been happening. Leah has survived and fought for many months. They told us she wouldn't make it past a few weeks or months. Every month we celebrate her birthday. We won't give up on her because she isn't giving up...and even if there was a little hiccup with her strength, we would push her and love her to keep fighting.

...this concludes part 1.  I have to get back to my little hero Leah.

Second part coming soon and some pics too.

Part 2.

Another Holiday in the Hospital, Big Brother comes to visit, and where are things now.

MUCH LOVE AND PEACE TO ALL OF YOU! Thanks for caring and reading Leah's blog.
Please spread the word about her and increase the prayers, thoughts and meditations!

Thanks for all the donations, prayers, gifts and thinking of us!
Daddy