fear and trepidation

Yesterday was one of the best of all bestest days. A day that I DREAMED of. A day I feared would never come. A day that still doesn't feel real to me. Yesterday...7-7-09 was the day that the monkey was declared "hypsarrhythmia" free.

I saw it before he said. I watched the EEG on the monitor. I shook my head out of confusion, the words "no, it can't be possible" coming out every few minutes as I looked confusingly at my mom, the monitor, the tech, and my spasming monkey lying next to me. I couldn't be seeing what was on the screen. It isn't possible, right? She is having spasms. Six of them just during the EEG. So how is it possible?? When?? Was it the last bump in Vigab to 2000k..was it the ACTH increased dose? I don't know how, why, when ..all I know is Hyps has left the building.

So...now what? I was SO incredibly happy yesterday. But now I have this latent sense of fear and the unknown scares me. Scares the crap out of me, actually. The loathing is for seizures in general. I hate that my happiness is riddled with little bullet holes of epilepsy/IS facts. That we don't even KNOW what kind of seizure type she is having... nor do we know why she is still having SPASMS. I read today that the hyps and spasms don't have to leave at the same time, spasms can follow a "non-hyps" EEG for several days after. I also read that sometimes "clean" EEG's can show hyps in sleep...so now I am wondering if we are truly free of it. (see how my realist/pessimist scared self is taking over my less than 24 hour ago happy self) When do I start asking them to put us back in for VEEG. When do I find out what seizures we are dealing with? Should we really start a new med (or kind of old one..Zonegran) if we don't know what we are dealing with??

Plus the general ACTH wean has me a bit nervy. I heard what I longed to hear yesterday, a mohters greatest day, and here I sit, confused, scared, in unknown territory...almost where I was when we first got this damn diagnosis. I have lived my life around IS and hyps the last 7 months. Now it's gone (sort of) and I don't know what to do. I don't know how to feel. I was happy...I want to be happy, be positive..but so much doubt, and info, and anxiety is lurking in the back of my head. I'm trying to push it down and enjoy yesterday still...but I've been an emotional mess all day today.

I guess one day at a time is all I can do right now. And love that little girl like no one has loved before. She is my life, my soul, my heart. My world. My everything. So I will go back to positive mode (or try to as best I can for her sake) because she needs me to do that.

I HATE hyps. I HATE seizures. Hate is a strong word, but not strong enough I think for IS.

My daughter is strong. Strong enough for IS. She kicked Hyps ass. Hopefully we'll get a VEEG set up soon and calm mommys nerves a bit ...but for now, Monkey TKO'd Hyps. She has the scars to prove it unfortuately (in her legs, from the last 2 weeks of injections...the IV they put in when we were in the hospital over the weekend, the blood work she had this week..etc.) She will never falter. She is strong. And I will NEVER give up hope, belief, fighting. I won't stop. Ever. For her, for all IS children. For all those affected by seizures. I'll never stop.

Sometimes ...lately...I feel like all I can do is fight, because there is very little else I can do. So that's what I do. And I fight well, let me tell you! Don't give up out there. Fight. Believe. Pray. Good things do happen. It make take time, but it will happen. We are proof!

Love and hugs to you all. My mind is tired now, and I think I should stop before I start crying! Good night friends. Much love and SF'dom.

Deep in the recesses of my mind, where I thought they lay hidden...they now creep..

This is what I was doing this time last year. June 22, 2008. What seemed like a normal day. A really hot day. A day that I did not feel well, and thought I was getting third trimester morning sickness back after being ok for a few months. This apparently was about the same time my daughter, while inside her mommy (who should be protecting her and knowing what is going on ) was having a bilateral middle cerebral artery infarction (better known as stroke) While I opened gifts and joked and ate cake, my daughter was in the beginning stages of fighting for her life. I can't quite wrap my head around it. How did I not know. How did something not scream at me get her out..something is wrong!!! What the hell was wrong with me. It wasn't until the next weekend they hospitalized me, only to send me home again..to go back in on Monday and have them try to induce. How did I not know my precious angel was in distress. How did the idiot dr's not realize that when fetal variablitily is flat, and you fail a biophysical profile that is NOT a good thing, so bring the baby out, start stroke protocol...get her out of there. Hind sight is a funny thing. All the things I should've done, should've said, should've fought for. As the babys birthday gets closer I find myself struggling with the events of last year and the events leading up to now. We have come a long way for sure from those first few NICU days, but honestly it haunts me. It sits in the deep in my mind waiting for a weak moment to pray on me, make me remember how terrified I was (and still am) for all the things my daughter has gone thru. Never really having an answer, or an answer to if it could happen again. Speculative doesn't work with me. But, I look at my monkey, my beautiful, strong, bright eyed, happy monkey, and remember that it all worked out. SO no matter how hard it is to relive it right now, it turned out ok. She is ok. We will be OK. It may take time, but it will happen. And as we near the celebrating of monkeys 1 year birthday all I ask for her for her birthday is seizure freedom. The rest will be nice, but SF would be like Christmas. We let monkey have cake tonight. Because I don't know (thanks to ACTH) when she will be able to have her party. SO she enjoyed making a mess of cake tonight . A pre birthday cake smushing. So, while there is no doubt that from June 22nd until July 13th I am going to be more of a basket case than usual, I will try and persevere and be strong, because monkey needs me to be. Especially in NY.I will do my best to try and stuff this back in the dark closet from which it came. Hopefully I'll have some good news to report soon.

Thanks all.

HUGE news on the IS research front!

I'll post about us soon...I promise. I know you guys are just waiting for me to drone on and on about waiting to go to NYU for ACTH. (lol) In the meantime...here is some great news from CHOP about having the FIRST mouse model for research!

Findings in Epilepsy Gene in Animals May Guide Treatment Directions for Infants

    PHILADELPHIA, June 1 /PRNewswire-USNewswire/ -- Researchers studying a
difficult-to-treat form of childhood epilepsy called infantile spasms have
developed a line of mice that experiences seizures with features closely
resembling those occurring in patients with infantile seizures. These
genetically engineered mice provide a new opportunity for scientists to
test treatments that may benefit children.

   "Approximately one out of every 100 infants has a seizure. Many of them
go on to have epilepsy -- characterized by recurrent seizures. One obstacle
to developing better therapies for children has been the lack of a good
animal model," said study leader Jeffrey A. Golden, M.D.,
pathologist-in-chief at The Children's Hospital of Philadelphia.

   Golden's team described a new mouse model for infantile spasms on May
12 in an online study in the journal Brain.

   Infantile spasms are a type of seizure that occurs in an estimated 1 in
2000 to 1 in 6000 babies, with onset between ages three months and one
year. During the seizures, infants have jerking movements and abnormal
brain waves (seen on EEGs). "Children with infantile spasms often have a
poor developmental outcome," said Golden. "Despite current treatment, many
children with infantile spasms go on to develop lifelong epilepsy and
varying degrees of mental retardation."

   Finding a treatment for infantile spasms is crucial. "If we could
better treat the infantile spasms, it is very possible some of these later
problems could be prevented," added Golden.

   Neurologists previously knew that mutations in Arx, the X-linked
aristaless-related homeobox gene, were associated with abnormal brain
development, neurocognitive problems, and with childhood neurological
conditions involving seizures and spasms.

   Golden's team developed genetically engineered mice in which the Arx
gene was removed from interneurons, a type of brain cell that inhibits
electrical firing in brain circuits. Removing the gene's role appears to
have resulted in overexcited brain cells and seizures in the mice. The
seizures resembled human infantile spasms. Equally exciting to the
researchers, these mice had another brain wave abnormality similar to that
found in children with infantile spasms -- an abnormal background EEG.

   "This is the first genetic model of a developmental epilepsy, and even
more importantly, it was generated by mutating the same gene that can be
found mutated in humans with infantile spasms," said Golden. In an
unexpected development, the researchers found that half of the female mice
carrying the mutation also developed seizures. Because the mutation occurs
on the X chromosome, it was expected that male mice would have seizures,
which was true, and that all the females would be unaffected carriers,
which was not the case.



   This discovery prompted the researchers to take a closer look at human
families with an infantile spasms patient. They found that the patients'
mothers (14 women) had experienced normal development. But of the patients'
nine other relatives -- sisters, aunts and a cousin -- six had neurological
problems, including four with epilepsy. The neurological problems included
varying degrees of mental retardation or other learning disabilities. These
findings, said Golden, will immediately change the evaluation and testing
of women with mental retardation and epilepsy, particularly in families
with other affected individuals.

   This new finding will also assist genetic counselors in advising
parents who already have a child with an Arx mutation and are contemplating
having another child.

   Going forward, Golden said, this new animal model provides an important
tool: an opportunity to begin testing drugs in the mice to identify
potential treatments for children. "We can screen existing drugs to see if
they are effective against this type of epilepsy," said Golden, adding that
understanding the biological mechanism by which infantile spasms develop
may also lead to more specific treatments.

   Golden and first author Eric D. Marsh, M.D., Ph.D., are both from
Children's Hospital and the University of Pennsylvania. Other co-authors
were Amy Brooks-Kayal, of the Children's Hospital, Denver and the
University of Colorado; and faculty members of the University of Chicago;
Vanderbilt University; the University of Rotterdam, Netherlands; and the
University of Pennsylvania School of Medicine. The National Institutes of
Health, the American Epilepsy Society/Milken Family Foundation and The
Children's Hospital of Philadelphia provided funding support for this
study.



   Marsh et al, "Targeted loss of Arx results in a developmental epilepsy
mouse model and recapitulates the human phenotype in heterozygous females,"
Brain, published online May 12, 2009.

   About The Children's Hospital of Philadelphia: The Children's Hospital
of Philadelphia was founded in 1855 as the nation's first pediatric
hospital. Through its long-standing commitment to providing exceptional
patient care, training new generations of pediatric healthcare
professionals and pioneering major research initiatives, Children's
Hospital has fostered many discoveries that have benefited children
worldwide. Its pediatric research program is among the largest in the
country, ranking second in National Institutes of Health funding. In
addition, its unique family-centered care and public service programs have
brought the 430-bed hospital recognition as a leading advocate for children
and adolescents. For more information, visit http://www.chop.edu.


   Contact: John Ascenzi
   Phone: (267) 426-6055
   Ascenzi@email.chop.edu

SOURCE The Children's Hospital of Philadelphia

 

Holding pattern...the waiting game SUCKS.

I can't beleive how long it's been since I've blogged last. SO much has happened in the time since my last blog. I will fill in the in betweens at a later date. Right now I need to vent about the past 4 days and waiting on NYU to call and get us a bed so we can start ACTH. We are on standby because there are no beds, and waiting is horrible. I'm going insane waiting for the phone to ring, and everytime it does ring I think it will be them and it's not. Not that I am looking forward to this, but I'd rather just go and get it over with so I can bring my baby home. Especially now with the 16 mo old boy who passed away from the flu I REALLY dont want to be in the city. I hate waiting. I hate knowing that my daughter is going to have to go through hell yet again, and we are just prolonging it at this point. I want it to be done ..get the process started so we can be closed to be over with it. And please God, PLEASE let this work. Don't make me do this to her for nothing.

Charli is making incredible advances in PT and Speech. She has been sitting better and sitting unsupported for short periods of time, and she is taking her right hand and bringing it to midline and using her left hand to play with her right fingers. She is using her right hand so much now its amazing. And..she is also making NEW noises the last few days, especially last night and today. She has been so chatty, and making "ooh and Ahhh" sounds, and a few "b" and "n" sounds. Her head control is great, she is moving her left leg so much and bringing it up so high in front of her she almost has grabbed her foot. She is also have flexion on the right side from her ankle down, and moving her knees up as if she is shifting weight in antipication to either roll or attempt to get up on her knees. She continues to amaze us everyday, and her smiles and laughs only get bigger and better. She is an amazingly strong girl.

I will update about our trip to Philly, our emergency trip to NYU right after Philly, and our last pedi appointment, and our appoint with Heme later. Now I am getting sleepy...so I think it's time to turn in. Thanks to all who read our blog and follow the monkey. I promise I won't take so long between blogs next time!!

The choice (almost), doubt, doubt and more doubt

So, it's been a crazy few days around here. No surprise, right? We've seen increased seizure activity, decreased Charli. Several days ago I noted Charli wasn't smiling as much, she was laying like a blob when she should be playing on her mat, not engaging with us when we talk..slipping away from me. I think this is mostly related to the increase in Depekene she was on. She doubled her dose overnight, and since then things have deteriorated quickly. We've made some med changes (adjustments I should say) and yesterday my bright eyed smiley girl returned. A miracle in itself.

Now for the spasms. Damn spasms. Yesterday was what I call a good day. 80 by 930p. That is a good day. She ended up with about 100 for the day after she finally went to sleep around 12-1230a, still a "good day". That is pretty sad , isn't it? That 100 spasms is a good day? After seeing her smile disappear for days, and then reappear yesterday it essentially scared me to the point of no return. I can't, I won't watch my baby slip away. I can't have the glorious smile fade, those bright shining eyes glossed over with medication haze and confusion. I had to make a choice. Continue my pursuit of Vigab and the strong instinctive feeling that it will prove all the dr's wrong, or give in and deal with my fears of ACTH and give it a go. I heard myself tell Dr M that I think it's time, and didn't really know I was saying it. My heart made the choice for my brain. Rational thought and side effects and anxiety can't rule anymore, that smile, my reason for living, for fighting, for researching is what drives me. I can't lose it. My heart can't lose it. I need that smile to know that life is ok, because when she smiles at me ( as she so often does during the day and night) it's the only time I feel like life is ok. I get lost in that moment, that overwhelming feeling of having those blue eyes stare at me and that big gummy grin, and I know my little girl is happy and loves me. She does not know of the demons she fights, and I fight for her daily. She just knows that her mommy loves her, and her daddy loves her. And that is all I need for her to know. No, that isn't true. I need her to know (someday when she can understand) that I will do anything, everything for her to keep her safe and healthy. I will go to whatever lengths needed, push myself harder to get her the best care and treatment, reach out in more avenues to get her story heard..and the stories of her friends (and super moms) that we've met along our journey. Kindred mom spirits that share my frustration, my joys, my fears, my tears. Without them, and without the smile that is the light in my life..I would be lost in a sea of fear, guilt, doubt, anxiety, sadness, anger. So to you moms (super moms..you all know who you are..moms who have to watch or have watched their child/children struggle with health issues) I say thank you. For your support, friendship, kindness, laughs, distractions, coffee/tea latte tips. Please know that we will fight as hard for your causes as you have fought for ours.

I sit her second guessing myself even now. And I'm sure this will be the case all weekend. Should I do this, can I do this. I know the answer is yes, but my brain is fighting my heart right now...but my heart will win. Because my heart is my daughter, and I will do anything for her. And my heart knows that it will be ok, because that big smile and bright eyes tells me so.

Confusion takes its toll

Well, lets start with the progress we have been making before we get into the sheer frustration and anxiety of choosing a med.

Over the past several days I've been noticing Monkey using her right leg more. She always has used it, but these last few days she has been a kicking maniac in her crib, and I've noticed that her leg is moving with a more fluid motion. (not the locking type motion she has had) She has also been lifting her legs up together using her lower abdominal muscles, and is bringing her legs up bent together. Before she would really only get her left leg part of the way up in front of her, now she is getting both of them up. She is also moving her right arm around more which I've noticed today. During PT today she was holding on to a toy on the floor mat with her right hand over her head (Jaime put her hand on it) and she took her left hand while still holding it in her right and started grabbing the toy. These are all HUGE developments for her. I've also noticed that her head isn't as wobbly when she is sitting up (supported still). I can't believe the change in her movement. Jaime said she was really loose today. I think she was tired because she was letting Jaime put her on her side and staying there with no complaints. We'll see how tomorrows PT goes. So, I'm very enthused about the leg movements and improvements with the arm.

Then there is the meds. We've essentially topped off with the Topamax right now (200mg / day). She was on 225mg but we had to drop a pill per the NYU neuro because she was so lethargic and really not eating well. Local neuro started her on Depekene last Thursday, and we were supposed to be on a increasing dose for the next 2 weeks. I had left a message for NYU last week because I wanted to talk to him about possibly going to Vigabatrin, but I forgot he was on vacation. I waited for him to call me yesterday but he didn't , so I left another message today. He called back this afternoon, and after I filled him in on what was going on he decided it would be best to drop back the Topamax dose and really treat aggressively with the Depekene right now. He said if we don't see a response in a few weeks, his recommendation would be ACTH. I spoke with him briefly again about Vigab, and he said if she had TSC (tuberous sclerous) he would DEFINITELY go with Vigab, but his thought right now is that ACTH would be more effective. He did tell me to get some other opinions, speak with other dr's about what they think we should do for treatment and then we can discuss treatment options again in a few weeks. I emailed Dr Chugani (from Detroit) and he said he would DEFINITELY go with Vigab starting at 250 mg (I think twice a day..can't remember. Have to look up the email) So that really pushed me to want to do Vigab, but now I am to the point where I will do whatever I have to. I have to call him next week to let him know how she is doing on the increased Depekene. So once again I am back in the ACTH vs Vigab boat. The struggle with how do I choose is killing me. What choice do I make? How do I know if it's the right choice, what if it is the wrong choice? Can I do the ACTH?? Do i have it in me? I know I will because I have to...but I worry all the same. I feel like I did before we went to see Dr. Miles for the first time. Lost, scared, confused, mad, sad, anxious, numb. Numb is a good adjective. Except for the stabbing pain in my head I've had all day courtesy of yet again another migraine.

So, that is what we are up to right now. We started the increase in depekene and decrease in Topamax tonight. We go to the ped on Friday for a general check up and weight check (he is so good..he has me come in every month to check on her) So, hopefully we will see a change with the increase in Depekene. Keep your fingers crossed for us!!

Thank you all as always for your support!!

Love,
us

Eye Appointment for the monkey..and Hope for Hannah project

So for Charli it's been a quiet week really. We had an appointment with the eye dr yesterday. It took FOREVER. He is an odd duck, that's for sure. He said structurally her eyes are fine, they do have some movements that aren't normal (her eyes move out a bit farther than normal) but he said he does not feel she has any vision impairments at this time, and as she gets older she may have one eye see better than the other due to the stroke, so they would do a patch probably to strengthen the weaker eye. He feels the movements she has with her eyes (the deviation from the middle) is due to her stroke and or seizures. He said it could possibly resolve as she gets older, her seizures become under control, and her brain matures. If we choose to go on Vigab (which we probably will) he will monitor her as best he can for visual field issues. He was freaking out initally when we mentioned she might be going on it, but then he said the most important thing is seizure control obviously. And as Jen said, her son was on it for almost 4 years and has no visual issues. (something I need to drill into my husband) Other than that I was playing phone tag with our NYU neuro (who I totally forgot was on vacation this week) so they knocked down her afternoon dose by 25mg to try and combat some of the lethargy and appetite decrease. We will probably be making a switch when I speak with Dr Miles next week when he gets back.

Larry has had several appointments, and is going to get his bloodwork done every 2 days for his coumadin, so that's keeping us busy.

I wanted to take this opportunity to mention a friend of mine (well, two friends) who could use all the support and hands willing to help. Carrie is the super mom to Hannah, who is Charlis birth buddy. Hannah has been diagnosed with Gauchers disease. Right now they are in the process of finding out if it is type 2 or type 3 and Carrie is gearing up for a battle..and she needs recruits. And I wouldn't be a friend if I didn't help support her as she has supported me in my efforts to raise awareness for IS and for pediatric stroke. Carrie has set up a board the Hope for Hannah project..and this board serves as a place for people to give ideas, help with research, awareness, give fundraising ideas etc. If you have the time, please check out her blog http://littlemisshannah.com/ and if you have facebook you can join the Hope for Hannah cause (it's on my page as well) Thank you all in advance!