Friday, February 27, 2009

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 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.

Wednesday, February 18, 2009

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!!


Thursday, February 12, 2009

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 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!

Little Miss Hannah - Our Fight against Gaucher's Disease

Saturday, February 7, 2009

Some info about IS. Brocs story

What is it like?

Here's a typical story: "At first I thought Chris was just having the little body jerks when he was moved or startled, like my other children had when they were infants. But then I knew something was wrong. The jerks became more violent, and his tiny body was thrust forward and his arms flew apart. They only lasted a few seconds but started to occur in groups lasting a few minutes. It was so hard to see such a young baby having these things."

Infantile spasms (also called West syndrome because it was first described by Dr. William James West, in the 1840s) consist of a sudden jerk followed by stiffening. Often the arms are flung out as the knees are pulled up and the body bends forward ("jackknife seizures"). Less often, the head can be thrown back as the body and legs stiffen in a straight-out position, or movements can be more subtle and limited to the neck or other body parts. Each seizure lasts only a second or two but they usually occur close together in a series. Sometimes the spasms are mistaken for colic, but the cramps of colic do not occur in a series.

Infantile spasms are most common just after waking up and rarely occur during sleep.

Who gets it?

Infantile spasms begin between 3 and 12 months of age and usually stop by the age of 2 to 4 years. They are uncommon, affecting only one baby out of a few thousand. About 60% of the affected infants have some brain disorder or brain injury before the seizures begin, but the others have had no apparent injury and have been developing normally. There is no evidence that family history, the baby's sex, or factors such as immunizations are related to infantile spasms.

Tell me more

When a baby with infantile spasms has an EEG, the doctor usually will see an unusual pattern called hypsarrhythmia (HIP-sa-RITH-me-ah) when the seizures are not occurring. This chaotic, high-voltage pattern is often helpful in confirming the diagnosis.

Babies with infantile spasms seem to stop developing and may lose skills that they had already mastered, such as sitting, rolling over, or babbling.

How is it treated?

Steroid therapy (adrenocorticotropic hormone [ACTH] or prednisone) is the primary treatment for infantile spasms. Some experts recommend trying a seizure medicine such as Sabril (vigabatrin, not available in the United States), Depakote (valproate), or Topamax (topiramate) before steroid therapy. In countries where it is available, Sabril is often used as the initial therapy because it is relatively safe (especially for short-term use) and effective. It is especially effective for children with tuberous sclerosis (a disorder associated with abnormalities involving the brain, skin, heart, and other parts of the body). Sabril is associated with damage to the retina of the eye and should be used with caution in children.

What's the outlook?

Most children with infantile spasms are mentally retarded later in life. Those whose spasms are related to an underlying developmental brain disorder or injury have a higher likelihood of moderate to severe retardation. The outlook is brighter for those who were developing normally before the spasms started: 10 to 20% will have normal mental function and some others may be only mildly impaired. Some children with infantile spasms develop autism. Many doctors believe that the quicker the seizures are controlled, the better the results will be.

When the spasms stop, many children later develop other kinds of epilepsy. About one-fifth of children who have had infantile spasms will have the Lennox-Gastaut syndrome.

Could I possibly be dreaming?

Hi all. The baby is asleep, and I'll try and update as best I can without making this into a never ending blog. Let's go back to where I left off. I'll time line it so it's less "wordy"

December 26th- baby starts having seizures the night of her 6 month shots. That morning around 9 (after speaking with her pediatrician who advised us if it happened again go to the ER) it happened again. 7 hours in the ER, where they took her temperature 3 times, refused to look at her birth records I brought, and the neuro resident examined her with a pen light they made the determination she wasn't having seizures as she didn't have one there. I started getting really p.o'd and requested to see the ER attending, who to pacify me gave her a dose of phenobarbital and sent us home with some. An hour after we got home she had several more seizures, I called the on call pediatrician who sent us back to the hospital to be directly admitted. We stayed until Sunday afternoon, and they did nothing in the hospital except put an IV port in her head. The neurologist that came in on Sunday didn't look at the video I had, or even examine her. He sat in a chair across the room and talked to me. Then left. No EEG, no MRI. Nothing.

December 29th- went to my regular pediatrician who ordered an EEG. Thank God for him.

January 5th- Saw pedi neuro, he said he thinks it's muscle spasms/ spastic movement, a product of the stroke

January 6th- 1st EEG. It was horrible. The baby cried almost the whole time, they glued the electrodes to her head, and she still has glue on her head from it. We've since found out they have paste that they use, and usually don't glue them on for short term EEG's.

January 7th- Our Pedi neuro calls and tells us she has hyppsarrythmia (otherwise known as Infatile Spasms). This is what I had feared all along, but kept telling myself since the neuro didn't think it was an issue I shouldn't. Infantile spasms is a catastrophic, rare form of epilepsy that is very difficult to treat, and causes developmental delay and regression. 1st line treatment is usually steroids (side effects can be hypertension, problems with glucose/electrolytes, irritablity, weight gain, increased appetite, kidney issues, decrease immune function) or Vigabitrin (not FDA approved, major side effect peripheral vision loss). We were started on Topamax (an anti eleptic drug/migraine drug).

January something or other- baby has a series of seizures and can't tell if she is responsive during it, so we call 911 and take the ambulance to the ER. Her evaluation there was good, she stopped seizing before the paramedics even showed up, and played the whole time in the ER.

January 26th- went to NYU to see neuro specialist who specializes in IS and childhood epilepsy. He increased Topamax to a very high dose in a 3 week step up period. Side effects lethargy, decreased appetite, metabolic acidosis, kidney stones.

January 31st- We are supposed to leave for CHOP on Monday February 2nd for our Feb 3rd appointment. Larry wakes up, starts complaining of a headache. 330 takes ibuprofen. Still complaining of what we think is migraine symptoms. I gave him a Treximet (migraine med..I can't take it because I had a bad reaction. Same as Imitrex, what he usually takes..just has naproxen in it) Starts complaining of "bright spots in his vision" and double vision. Goes to lay down. I check on him a few minutes later and he is complaining of burning in his right hand and fingers. I notice his left pupil is small and fixed. Our room is dark, so it shouldn't be small. I tell him we need to go to the ER, NOW. He says no, it's a migraine. I tell him no, we need to leave. He says no. A few minutes later he says he has pressure and tinigling behind his left eye and in his face. I say that's it, we are going. Get to the ER and I tell them I think he is having a stroke. They immediately take him in. While talking to the ER dr I notice his speech pattern is different. CT's, EKG's are done. When he came back from the CT his speech had improved. Waiting for MRI. ER dr comes in and shuts the door. CT was ok, no masses. CT angio showed he has a clot/blockage of his internal cartoid artery. He was having a stroke. He was admitted, had an angiogram Monday Feb 2nd that showed a cartoid artery dissection. He had a tear in his carotid and the flap from the tear is what was causing the blockage. It is at the base of the brain, too risky to operate and because he has good flow in all his other vessels they don't feel the need for invasive treatment. He came home Feb 4th on blood thinners, Lipitor and needs to be closely monitored right now. They gave us no indication as to why this happened. Because his brain redirected the blood so quickly his stroke symptoms stopped and no other neurological deficits occured. Neuro said to follow up 6-8 weeeks. We saw our primary yesterday who said he needs to be seen before that...can't believe they would make him wait so long. He is home, tired, anxious, and not understanding why this happened.

Feburary 7th- as of last night the baby started refusing solid food (so she is not taking her seizure medicine now because she gets it in her food) She cries when she sees the spoon. As soon as she gets a taste of the sprinkles in her mouth she holds it under her tongue, usually gags, and throws up. Or she cries until eventually it just goes down her throat. I have been able to get maybe 2 full doses in her in 36 hours. Obviously seizure activity has been very bad today. I called the ped in desperation and got tablets to crush hoping that will work so she can take her meds. We were supposed to start her last step up today. We are pretty sure we are going to have to choose either Vigabitrin or ACTH now, because the Topamax isn't providing enough reduction in spasms and now she won't take it anyway. (at her worst she had over 200 spasms in one day).

So, that is what I've been up to lately. Top that off with my usual migraines and overall anxiety and depression (which today has been horrible). I've pretty much cried all day today because the baby won't take her meds, and I feel like a failure. I can't keep her safe and protected from all of this horribleness (is that a word?) that plagues her, and I can't get her meds in her to make her seizures decrease. And my husband is a mess, crying most of the time, depressed because he thinks it's his fault we didn't go to CHOP, scared about what is going on with him, scared about what treatment we will do next with the baby, stressed because I am so stressed. I've tried so hard to keep it together...but today it just all fell apart.

I really appreciate everyone who takes the time to read this, and to leave kind words and thoughts. I have better support from my online friends than I do from my best friends (who literally havent called not at all and one not since we got the IS diagnosis). I thank you all for your continued support, and ask that if you pray just say a little prayer for my husband and my daughter, and if you aren't religous maybe just send a good thought their way. It is much appreciated.

I'll blog more later, I just wanted to let everyone know what was going on, and why I haven't blogged sooner. Hopefully I'll have better news to blog about.

Thank you all again!

I'm sorry I've been gone so long...

Thank you all who have visited, are following, and have left comments. I'm sorry I've been absent for such a long time, but it has been one HELL of a month (pardon my mouth). I asked Larry (my husband) to go on baby duty after dinner so I can I need some time to vent. So I will be back soon and fill everyone in on the chaos that has been happening around here. Thank you all for stopping by! Your support means the WORLD to me!

Hope all of you are well, and your little ones are wonderful and healthy!