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 
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:



  1. I just commented on facebook but wanted to here also. I have faith she will fight this and live a LONG time. I know you have came this far and having answers will help! You are in my thoughts and prayers daily! My little princess Leia didn't get a chance to live in this world, but yours is! She is clearly loved and cherished by so many. A true miracle and blessing xxoo

  2. I am heartbroken for Leah, Frani, but I also feel she is so lucky to have parents like you and Zev who understand her and who can give her everything she could possibly wish for in the meantime.

    Much love to you all from us here in the UK.

  3. As always, your family is in my thoughts and prayers. I am always sharing your stories on my facebook page and spreading the news throughout my own family. I admire you all so much. Much, much love.

  4. Thank you for the update. I'm so thankful that your last trip to the ER was so much better than the previous one and that the doctor was there for you. There is a bigger hand in this than any of us know. I continue to pray for Leah every day, and always include your whole family in my prayers. Your princess has touched so many lives and hearts. I can't help but hope that all of this will somehow increase the odds for her recovery. We love all of you.

  5. Ah, the dreaded Topamax. There you go. All this time Baby Leah and I have had something in common. We just didn't know what it was! Believe me when I say this: TOPAMAX SUCKS! But, it's a necessary evil. I have to take it and someday when Leah starts texting, she and I can complain to each other about the side effects! Woo-Hoo!

  6. I have been a silent supporter for awhile now, but I had to speak up after reading the latest news. I had a daughter who also had a rare medical condition that was fatal. Now is the hardest time for you and your family, but it is also the time to not give up hope. When my daughter was diagnosed we were told she would not live another year. Well she proved them wrong and lived four and a half times longer then anyone said she would or should have.

    No words can make what you are feeling or going through easier, but just know there are many more people sending good thoughts your way that are the silent types.

  7. Thanks for the update. It isdifficult to find something to say that hasn't been said a thousand times by everybody, but I'll just say that with love and faith, you can accomplish alot. You have plenty of that coming in so the magic can happen I'm sure. Continue to be strong, good things will happen for sure :)

  8. I have been following Leah's progress for several months now hoping and praying that she will get better. I can not imagine the pain you two feel in seeing your daughter sick but it does hurt me to see pictures of your beautiful baby hooked up to so many tubes. I myself have a little girl just two months older than yours and I thank God for her health as I pray for Leah's. Im embarrassed to say that it took reading the story of your princess for me to fully appreciate every single minute that I have with my baby and to never complain about anything as trivial as having her wake me up at night like 3 or 4 times. Leah was given the perfect parents you both are so strong, loving and committed the perfect combination for a special baby like Leah.
    I was wondering If the doctors have considered Leighs Syndrome. Anyways i will continue to keep Leah in my prayers and I think about her eveyday.

  9. Hi
    I've come here via the story of Katie, the little girl who inspired the Share Star Wars day.

    In my extended family we have a little boy with Mito. We'd never heard of it until Cooper was diagnosed. Mito can effect each child differently; Cooper is deaf, can't speak, and can't do anything for himself. There just isn't the energy in his body to even sit up by himself. However, there's a little girl in the area with Mito who can walk and mainly seems to have stomach issues.

    I'm glad you've found the UMDF. Coop's mom, Jobie, is one of the chair people for the NW Pennsylvania chapter of it. Each year, she organizes a local Energy for Life walk and most of the family in the area shows up for it, as well as other folks in their small town. The money goes to research and also to Cooper's family to help defray the numerous medical expenses. I think the UMDF has helped the family a lot: just knowing there's a support network out there is a positive.

    Cooper is now 5 and doing as well can be expected. He has a great smile and we love him.

    My prayers and best wishes to you and your family.


  10. You are such amazing parents to Leah and she is blessed to have you! Thank you for sharing your little blessing with the world! She is in my prayers!!

  11. Frani and Zev, You are true heros! I too, have a terminal disease, I have managed to baffle the Dr.s by still being alive and active 10+ years past what my parents were told was my expected survival time. Given Leah's strength she just may do the same for your family! God Bless Leah and your family, I have been following your blogs and praying for your family. Good Luck! Much love Jami R.

  12. I came across this blog when my wedding photographer (Sigal) posted the most adorable pictures of a precious little girl with Star Wars patches surrounding her. I was immediately intrigued! I followed a few links and was directed here and am so overwhelmed with compassion for sweet Leah. My twin daughters and Leah share the same birthday - they turn one on February 17th also...and to imagine going through what you are going through kills me. I want to commend you both for being so graceful, faithful, positive and strong for your daughter. I'm not sure I could be as strong as a parent as you both are. My thoughts and prayers are with you, your family and your entire medical team - may they find knowledge to help Leah on her journey.

  13. I found you while searching for blogs dealing with MITO, as I've just been diagnosed with it as an adult. My heart aches for you coping with such a sweet precious baby having such a horrible disease.

    I'm adding your blog to the sidebar on my own blog, Day by Day with a Movement Disorder.

  14. Fran, sigue con la fuerza que llevas por dentro y no dejes de sonreir para ella. Tu mensaje es inspirador y es un ejemplo de amor. Seguimos rezando por ella.