Leah's Story


Leah Raquel Esquenazi was born February 17th, 2011 in Los Angeles, CA. Everything went well with the pregnancy and delivery, her head was not angled the right way so we had a c-section, but other than that she was healthy and perfect when she was born. The only thing we noticed was that she had a little squeaky sound when she breathed and she was a little on the floppy side. The doctors told us that she had Tracheomalacia (floppy airway) and not to worry, that she would grow out of the noisy breathing as her trachea got bigger.
fresh out of the oven!


At 1 month on March 16th, we were at my post partum follow up and we noticed that she was a lot fussier than normal and vomiting a lot. On our way home from the visit we had to stop the car because I noticed that she was making a strange movements; she looked almost like she was trying to poop, but not quite. Her eyes got really big and she was almost trembling, and it would come and go for a few minutes. Terrified, we took her back to the free clinic in LA where my doctor's visit was and asked what we could do. There were no pediatricians there that day so they recommended we take her to the closest hospital, CHLA. We were in the ER for about 3 hours and she seemed to be doing better, no one except the admit nurse had seen the movements (and she thought it was a seizure), but the doctors sent us home and just told us if she got a fever higher than 100.3, to bring her back to the ER. Later that night, the following day at 2 am, I woke up to feed her and took her temperature just to be safe. It was 102.3, definitely a fever we should worry about. So we rushing to ER again, this time to Cedar's Sinai, as it is the closest hospital to us and where she was born.They saw her immediately and started the whole series of tests that they do for babies with high fevers, screening for meningitis, doing a spinal tap, etc. During all this, when her fever was still high and hadn't come down yet, they noticed that her eyes started rapidly moving from right to left, but really really fast, almost flickering. They decided to do a ultrasound of her brain just in case it could be neurological, but found it to be normal. She stayed on antibiotics for 4 days and then we were sent home, the cause of the fever never explained. They told us it was most likely a viral infection...
at Cedar's Sinai

At months, she got her first round of shots. After the shots she was fussy, more than usual, but nothing to really worry about since the doctor said that was normal. But after about 4 days we noticed that was still very uncomfortable, and was crying a lot for no apparent reason. Then she started vomiting, but like a lot, like projectile vomiting. We took her back in after it wouldn't stop for a few days since we worried she might get dehydrated. This time we finally had insurance so we took her to UCLA. They did the same there, also noticed that her eyes were flickering constantly with the fever and kept her for a few days, gave us a medication for the vomiting and sent us home again. I think we went back twice more for the same reasons in the span of 2 weeks , but now she had started moving. But her movements wouldn't stop, she would move her head, arms and legs back and forth and sort of cry out like, "what's happening to me?", she looked like she was getting frustrated by the movements, but nothing stopped them and no one could tell us why she was moving. Our pediatrician got us an appointment with the geneticist, jsut to see if maybe it was a metabolic issue, maybe the acid reflx theory they had so far was incorrect. So, we saw him and explained everything and he wasn't too happy about her, in fact he was really worried. He wanted her to be admitted, but said he'd need a few days to work it out. We took her to the ER the next day, this time she was also vomiting but was arching her back to much it looked like a sci-fi movie and she would cry whenever it would happen. She was admitted on May 3rd to the pediatric floor.
on the UCLA children's floor

Other than the movements and some ocasional vomiting, she was really fine. She was eating normally, though with breastfeeding she would vomit and with the bottle she wouldn't so we think maybe it was coming out too fast for her. On May  9th, we noticed she was having a hard time breathing, so we calle dthe nurse and she immediately called the doctor who then called Rapid Response, a team of people who handle emergency situations in the hospital. Suddenly 20 people were int eh small room with us, mayhem was everywhere, it looked like something from the TV show, ER but in real life. Our doc kept us calm though through it all and explained everything that was happening. They had to intubate her, she was working so hard to breath that soon she would go into cardiac arrest, they had to wait for an ENT (ear,nose,throat) doctor to come and intubate her since she had the floppy airway and they were afraid they would do more harm than good without him there. He finally arrived, and intubated her and they took her to the PICU (pediatric intensive care unit), it was surreal to say the least. She was hooked up to about every machine in the room and looked so tiny. And here we thought she was just having some bad reflux. They kept her sedated but the movement never stopped.
first night in the PICU
We stayed in the PICU from May 9th until July 20th of 2011.We never left her side, we basically lived there, going through a various diagnosis's, tests, possible treatments and never finding an answer. That's about the time I started this blog (you can see more detailed info from our stay in older blog posts). She developed cataracts at 4 months, and had surgery to have them removed, her vision has been declining since then, even though she wears glasses. She had a muscle biopsy that left her so sedated she had to be intubated again after she had been extubated, eventually getting a trach. I was lucky that my job let me take all that time off and even helped me out with a bonus check towards the end because we were really hurting for cash.
While we were int he PICU, a friend started a donation page, just to help us at least be able to afford lunch at the cafeteria and it blew up. The whole Star Wars community rallied for her and for us.
She still went back and forth from the hospital to home, staying a month at home, then needing to go back.
First it was that she would stop breathing when she fell asleep so we got a ventilator to help breath for her when she was sleeping. Then she got an infection, and was there for a couple weeks. In November, she had a high fever which triggered seizures, something she had never had before, despite the movements looking like seizures. But the ER doctors didn't know they were seizures, they assumed it was her movement disorder, even after we insisted in getting an EEG done to check for seizure activity in her brain. After screaming at the resident about it, 3 hours later, when she still hadn't stopped seizing, they finally did one. And she was in status epilepticus, a grand mal seizure that left her in an induced coma that they had to do in order to stop the seizures. She was comatose for 1 whole month, discharged the day after Thanksgiving and then was back in 2 weeks again for seizures. This time it wasn't as bad, they were able to stop them pretty quickly and give her meds for the trach infection she had.
Since then the movements have been off and on, although ever since that seizure, she has been a lot less active, since she's kept pretty sedated from the seizure drugs.

We recently finally found out that all her medical problems come from a genetic mutation, a mitochondrial disease which affects all the cells in her body. This specific mutation, however had never been seen in any other person, until they tested my blood and found the same mutation. It is a mutation that places her disease in the same category as Leigh's disease, a fatal disease that most children only survive up to a few years with. It also is very close in genetic structure to Leber's hereditary optic neuropathy (LOHN), which causes blindness. Because this is a new mutation, the future is still unknown.
She still continues to fight for her life though, and we have to believe in her and her strength. She gives us the strength to not break down, so we won't give up on her, we'll keep searching for any new treatments, medications or cures for her incurable diesease. We make sure she receives all her therapies, including occupational therapy, physical therapy and vision therapy. And most of all, we'll continue to give her all the love that we can.

Thanks for reading.
Peace,
Frani

20 comments:

  1. Dear Frani,

    I've been following your blog for a while. I send all my love and good wishes to Leah and everyone there, doing their best to find a treatment. I pray for you guys all the time. I must say that as parents, you are the best parents Leah could ever have. You stay strong no matter what and I just love your smile in the pictures. I think you are gifted with good hearts as a couple and that it gives a very crucial lesson to the world. A smile comes from within. I love your blog because it reminds me to smile, no matter what happens. I'm glad to have a glimpse to the world of beautiful people, thanks for sharing your story with us.

    Irene <3

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  2. Dear Leah-Mom,

    I recently stumbled over your blog about your daughter Leah. As I am also a mother of a little girl - one month older than Leah - I have the deepest respect of your strength and patience to be there for Leah - no matter what time, what day, no matter how you are feeling.

    I wish you all the best for your family, especially that research will find a way to treat Leah's mutation.

    All the best from Germany,
    Julia

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  3. I came across your touching blog and actually have voted for Leah on the Cutest Kids Contest. Leah is really an angel. I just want you to know that even though I may not know you, my heart, thoughts, and prayers go out to your family, and Princess Leah.

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  4. I have been following your journey for a long time, but somehow I missed this before. Leah and your whole family has really touched my heart. I'm sorry to hear she has been through so much. She is such a strong girl and such an inspiration.

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  5. Hi,
    First and foremost I want to send well wishes to your girl. She sounds like an amazing tough strong little fighter! My 9 month old daughter was just diagnosed with mito complex 3-the specific gene testing is still pending. I am happy to find you and follow your family's journy. The unknown future of this disease is scary as hell and I don't personally know anyone with mito so to find a blog like yours gives me a sense of 'community' . Thank you.- Linnea

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  6. Prayers to all of you dealing with any type of disease that is affecting your children. I hope and pray that they will find cures for you all, and it amazes me how tough these little ones can be. God Bless!

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  7. RIP little one.....many Prayers for everyone........

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  8. We're all so sorry for your loss, and share it, but thank you for letting us share your joy with your dear daughter. We'll be praying for you.

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  9. I had a child with many medical issues, I feel for you and and the struggle you and your family went threw during thus time, reading threw brought tears to my eyes and sadness to my heart ,she is very beautiful and I'm deeply sorry she lost her battle. God bless you and may she always be with you testing in peace

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    Replies
    1. creo que no perdió su batalla, vino a cumplir una misión. Es un ángel que Dios envió a la tierra y ahora regresó a su lado.

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  10. I am moved and blessed by your blog. May the loving Creator welcome your daughter into his arms. My thoughts and prayers are with you. May you know peace in this moment....

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  11. I followed Leah's story for awhile now, and I'm so sorry for your loss.

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  12. Very sorry for your loss. My children have also followed her story and they are very sad. She was so beautiful. She brought the world together.

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  13. Siento mucho lo sucedido con la baby!.. Espero que Dios sea confortando sus corazones!. Abrazos desde Colombia!.

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  14. yesterday I saw the history on tv and moved me a lot. I very much regret the death of such a beautiful princess, but is now a beautiful star in the sky. From Guatemala I send a big hug to you and a lot of strength to move forward.

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  15. Hola!!! Muchas bendiciones para Leah, una pequeña gran guerrera, . Saludos desde México, me enteré de la condición de la pequeña Leah por medio de Nat Geo.

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  16. I am so sorry that you have had to endure this unimaginable pain. I truly believe that God, whatever you hold God to be, does NOT cause illness and pain and death, but CAN bring something good from it. And with Leah, He has. He brought a community together. A community that was local to you, that supported you and helped you and a community of people around the world, united in searching for an answer for her problems early on and united in prayer for this beautiful girl. Those are good things. I know it's of no solace to your hearts and souls of course, but I hope someday down the road it will. I believe the light you saw on the video of her service was her, IS her. She IS with you and always will be and she is free! I believe with all my heart that you all will be reunited one day and you and Zev will then know the purpose of being BLESSED with her life, as short as it was. I cried reading your last entry and my heart aches for both of you and all who loved her, indeed knew her. I pray for your faith as time goes on. I know what it is like to lose loved ones, though I have not lost a child I know those who have and can only imagine the pain. I pray your pain will be short lived and your joy at having been her parents will be all that fills your heart.

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  17. Dear Frani and Zev,
    I'm so sorry to hear about your loss. It was an honor to know Leah. Wishing much love to you and your family.
    Vanya

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  18. We'd like to thank all of you that took the time out of your own busy schedules to write to us. We really appreciate you becoming part of our Global Family.
    We hope you will continue to follow our fight against this dreadful disease and perhaps join in whenever possible. You have made a difference in our lives, you can also make a difference in others lives as well.

    Many Blessings,
    Zev and Frani

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