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!



  1. Frani,
    I am a nurse on the east coast of Virginia who has a friend with a little boy with incredibly similiar issues as your sweet baby girl. He is now 3 or 4 years old and has been seen by a multitude of doctors up and down the east coast. I don't know if it would help or not, but I would be happy to contact her and see if she has any information that you two could share that would possibly help both of your children. God bless you, Princess Leah and your husband. As the mother of 4 healthy children, my heart goes out to you.

  2. My best and sincere wishes for Princess Leah, i'm an atheist but i dont stop thinking about your daughter's strength. I have a severe ill but she gives me strength to keep moving. My best regards and wishes.

  3. Frani,
    I have a daughter who was suffering with the same symptoms. Has she been tested for Krabbes Disease?
    Very rare, but it seems to be popping up in more and more kids..
    Something to mention to the doctors.

  4. God bless you and your family, we will be praying for princess leah.

  5. Sending much love to Leah. She reminds me of Gianna, our little love & fighter. Gianna had the severe side of Aicardi syndrome found only in little girls.

  6. Prayers going up for Leah. What a miracle she is !! And what WONDERFUL parents she has been blessed with♥

  7. She is in my thoughts and prayers. I have wrote on facebook already but I was not sure of how often you checked it. I suffered from the same involuntary movements and seizure like activity. My nerve disease is called Sydenhams Chorea. I was not sure if they have checked her for that or not.

  8. my heart goes out to you and your family after coming across this blog this am. I had to go back and read everything. As a mom myself I can not imagine how may times your heart has broken with everything that has gone on and still to come. I offer you this
    O most holy apostle, St. Jude, faithful servant and friend of Jesus -- People honor and invoke you universally, as the patron of hopeless cases, of things almost despaired of. Pray for Leah, for her who is so helpless. Please help to bring her visible and speedy assistance. Come to her assistance in this great need that she may receive the consolation and help of heaven in all my necessities, tribulations, and sufferings, particularly with her health let her be happy and healthy and be able to grow and that I may praise God with you always. I promise, O blessed St. Jude, to be ever mindful of this great favor, to always honor you as my special and powerful patron, and to gratefully encourage devotion to you by publishing this request. Amen.

  9. I have read about your story in the HuffPost and I just wanted to wish you the best and a full recovery of your baby, or at least a reliable diagnosis and treatment :) as soon as possible!

    You have shown a lot of strength, so has your little princess, who is such a pretty babygirl.

    Lots of love and support!

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  11. You have such a beautiful daughter.My heart goes out to you.My daughter was born in Feb of this year and is happy and healthy thank, God. I hope that Leah will make a full recovery. I will keep you in my thoughts and prayers and send healing energy to you and yours. My the Universe be with you and yours. :)

  12. I have a 6 year old son who has simaliar issues as your daughter and I was wondering if the doctors have checked with the Mitochandrial Doctors to do some testing. My sons Movement Disorder Doctor who also is a neurologists increased his volume and he decreased with the eye flutter seizures as we call them. He has bad distonia, very weak muscles, a trach and a g-tube. If you need anything please get ahold of me at

  13. Frani and Zev,
    I've been following your blog since day 1. Zev, its Liz (your non-related little sister, Debbie's best friend). You're in my thoughts daily. I pray that your precious Leah gets better really soon and that the doctors can figure this out. I can not imagine what you must be going through. I hope you don't mind I posted about you on my blog. If you would like me to remove it or change the picture. let me know.


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  15. Hi,

    I'm sure you guys are inundated with well-meaning but ultimately meaningless advice and "leads," and I certainly don't want to add to it. As someone with a chronic "mystery illness" myself I know how frustrating it is when people say, "Have you thought about...?" when ... has been ruled out six months ago.

    But when I read about Leah's condition I immediately flashed back to an article I'd read recently about a teen with an unusual/rare form of dystonia. Her doctors were eventually able to correctly diagnose and treat her using genome sequencing, so it was kind of a "breakthrough" thing.

    If this is not something that's already been ruled out, I am wondering if any of the doctors involved in that girl's care/diagnosis might be willing to consult in on Leah's case. Unfortunately all I know about it is the article -

    - but perhaps your/Leah's doctors could have connections or could make inquiries, if it's something that might be of interest or benefit.

    Best wishes to all of you, and give baby Leah a good long snuggle for all the strangers on the net who are heart-full of hope and concern for her. xoxo

    *Deleted and reposted for spelling errors, sorry.