Answers for Chloe

A mother knows. A mother knows there is something wrong when she looks in the eyes of her newborn. She knows when her precious baby doesn't hit milestones or reach for her in the the "clingy" stage. A mother knows when her gut and instincts all scream "SOMETHING ISN"T RIGHT" And a mother knows when she would give all that she has to be wrong.

Today I got the call that ended the searching phase we have been in since roughly November 2010. I thought I had it all figured out. I thought that I had solved the puzzle. I didn't want to be right. I wasn't. I suppose I should have felt relieved. Some people start the searching phase and end up being in it for years. I didn't.

Rett Syndrome. two words that changed our lives forever. I had heard of it, once or twice I have scanned the symptoms only to quickly dismiss it. The outcome isn't good. But the blood test came back and it's Rett Syndrome. I honestly don't know much about it. I know more about it now than I did 24 hours ago though. Here's what I know, but seriously if you want to know more then I strongly urge you to go to http://www.nichd.nih.gov/ and look up Rett Syndrome.

It's rare: only 1 in every 10,000 to 25,000 live births result in a Rett Syndrome birth
It only affects girls with I think 2 exceptions ever. the reason is long and technical and has to do with X and Y chromosomes.
Unlike Angelman Syndrome which affects the chromosomes, Rett affects a single gene.
Rett Syndrome isn't degenerative but it is regressive. (I'm still fuzzy on the difference)
Rett Syndrome will eventually take my baby's ability to walk and crawl away.
She may learn to talk eventually but even that will be taken from her.
There are 4 phases of progression with Rett Syndrome
Early Onset Phase- she will stop developing
Rapid Destructive Phase-she will lose or regress learned skills quickly,* this phase is the hardest to swallow. It breaks my heart over and over* Purposeful hand movement and speech are the first to be lost......
Plateau Phase- regression slows. Seizures and movement problems are common in this stage. and most girls spend the majority of their time here
Late Motor Deterioration Phase- girls with either become stiff or lose muscle tome and some become immobile.


The reality of this is washing over me in waves of grief. Our life will never be the same. We are thinking about the future and trying not to be scared but we know that we need a house that is more open and handicap accessible. We will need a van that is modified to help us. And we need a communication device so we can communicate with Chloe. the list could go on and on. For now I will just have to take sleep. I will write again sooner than last time.

The Chloe Chronicles

I have resolved not to make this post as bleak and depressing as the others have been but well we'll see how that goes.
Ok to all who are waiting patiently and not so patiently here are the latest details in the Chloe Chronicles.
We are STILL waiting on the confirmation on the go ahead to get her blood work done. BUT the nurse Caroline is back at the office and the very saintly secretary Tracy put our paperwork at the top of her to do list and so she has been working on it and called yesterday to tell me that she is still waiting to hear back from the geneticist that is employed by the insurance company or the insurance approved lab. I'm not sure which. anyways, the deal (I think is) that we may have to travel to Augusta or Atlanta to get the blood drawn. Please don't ask me why, you may however ask me for Coventry Insurance's number to ask them yourself. :) At this point I don't really care, just tell me what to do and I'll do it.
Today we had a speech and feeding evaluation. Her feeding looks great, she is mechanically doing everything as she should for a kid with 4 teeth. Her speech and communication skills... not so good.
I know I should have been prepared. I knew what the lady was going to say before I went to the appointment. Still, the evaluation, any evaluation is a professional holding up the measuring stick and saying your kid should be ^ and instead they are _ here. Maybe I'll get used to it. but right now it stings a bit. Ok deep breath.... Ok so facts: she is on level with a 6 month old. (she is 16 months old btw). The therapist was very nice, she is told me she is going to write up the report and then think about and write out a course of action. Both of which she is going to send me. Here's the kicker. because Chloe is SO far behind she wants to have Chloe come in 3 times a week for a few weeks to see how much progress she can make with her so that she can then better estimate a feasible long range plan. That makes great sense and I would be on that like white on rice... but.... Coventry only pays for 20 visits of speech and occupational therapy COMBINED for the year. And she needs to get occupational therapy to work on her fine motor skills as well as a host of other things. Seeing the progress she has made with her physical therapist I am a true believer in therapy. I was a total skeptic when I went in but seeing her improvement in such a short time... Its really amazing. And incredibly frustrating. The very kind speech therapist told me that once our speech therapy insurance runs out they have a sliding scale payment plan they can put us on. NICE. till I found out how much the minimum payment is. $45 a visit. at 3 times a week that's.... ok you can do the math and it literally makes my head hurt to think about it so....
But this is what I know for sure. Everything belongs to God. He can make a way where I see no way IF that's what He wants to happen. I am trying desperately to allow Him to direct my path and not me and my overly anal control freakish habit of taking control and having 5 contingency plans. So I am going to consciencely sit back and wait on God. ok ok not sit back and do nothing. I am going to do stuff but I am going to try and do them in a way that leaves room for His guidance.
Devora (the therapist) did tell me a few things that were new. One she said that not only is Chloe is behind in development but also in everything. looks, the number of teeth she has, height, everything about Chloe is behind. I don't know why that made me pause but it did. I know that. I can see that, but I felt almost like God was saying remember this for later. I don't know. Anyways, she also said to use sign language for everything and then when speaking to her and communicating with her I should use the hand over hand technique in teaching her the signs. Example: I have a cookie and I know that Chloe wants it. I ask her if she wants a cookie and make the sign for cookie, then I say just cookie while making the sign, then I gently take her hands and make her hands make the cookie sign while I say it again. as soon as "she" finishes making the sign for cookie I praise her like she did it all by herself and then I give her the cookie. Thankfully I have a wonderful friend who knows ASL and is willing to teach the whole family!!!! She's such a really cool awesome lady. The boys are uber excited to learn a "new language" and talk in code. I'm excited because the therapist said it MIGHT reduce the screeching which is just about her only means of communication at this point. I try not to get frustrated at the constant screeching, I know it's her way of talking to us and I try and imagine myself trapped in my body wanting to make myself understood but not being able to. (I think I would just keel over and die like a pigeon after you feed it an alkaseltzer and rice).  However the high pitch of it is starting to give me headaches. Praise God she is a happy baby because if she were more demanding.... I would be a share holder in Excedrin.
Also she started doing something she has only done once or twice before. Biting to get attention. I will be holding her talking on the phone (once with an insurance person and twice with the ASL lady) and she will just lean over and bite me. Telling her no gets me a blank look. It's like when she reaches for something that she isn't allowed to touch and you tell her no. there is nothing there. You can tell her no, say it firmly, pop her hand, whatever it has no effect and she doesn't have that look in her eye like "hmmm I wonder how far I can push this???" nope, nothing, nada. So telling her no biting isn't registering with her. Maybe I could cover myself in hot sauce...LOL. Just kidding.
Also, last week we got her fitted for SMO's foot braces. they come just above the ankle and they are to help the position of the feet as well as stopping the leg muscle from rolling over the ankle bone and also her flat footedness. We should be getting a call about when they are ready very soon. maybe tomorrow or Monday. They had to make them especially fitted to her feet so they will not fit anyone else in the whole world. And I got to request a colour or a pattern. I am a plain Jane so I picked a light pink. Nothing fancy or crazy but a little girlieness.
Ok well this post is long and I am getting tired so.... tomorrow I will finish up with the big hurdle. Schooling. and where we stand on that.
Hmmmm I wonder if I could write to Oprah and ask her if I could have a million dollars. You know she wouldn't miss it, she's got billions. just a little old one million. it's probably what she makes in a day in the interest in her bank account. LOL. oh what I could do with that. HA I bet I have a better chance of willing the lottery (and I don't even play hahahaha), plus if I had all the money for Chloe's therapies, equipment, etc. what would I have to blog about???
Anyways, if you're still reading this. Thank you for reading my late night rambling. Your love and prayers and calls and generosity is so appreciated. I know that compared to the world scheme of things my life events are really quiet small, but they are the world to me. So thank you for caring about my world.

Me and A frog in a pot

Ok so God's really smart. Duh I know but He is. We are on this journey that we really didn't want to be on but instead of throwing us in head first God's been easing us in the pool bit by bit.

Tomorrow Chloe gets fitted for her SMO's foot braces. She also is quickly out growing her walker so her PT (physical therapist) suggested a disablity walker. But after finding out how much the SMO's are going to cost us out of pocket after insurance I'm thinking maybe not.
Thurday or Friday (hopefully) we will hear back from the gentists nurse. At this point I have literally done her job for her, all she has to do is check my work and then call or fax the lab where we get blood drawn and then call me. VIOLA! To think that by Friday we could have the clock ticking on "the wait" would be nice. I also found out that our insurace will pay 100% for all the tests that need  to be done. Praise the Lord.

I have been overwhelmed at the generosity of God's people. Just blown away. Someone paid for me to have a membership to the Angelman Syndrome Foundation. I had thought about joining but had decided that I didn't want to jinx myself so I was waiting till we got the results back. God had other plans. But as I opened and looked at all this information I think it really hit me that I may be the mother of a child with special needs. I know that sounds so stupid but as of right now I haven't really thought about. I have kept busy learning all I can about AS and what our next step is and planning for the steps after that. I haven't allowed myself to think about the nitty gritty of what this could mean for us. I still can't say the word mentally retarded out loud. Or epilepsy.  I guess that's why the Lord has been acclimating me slowly. I feel much like a frog in a pot of water. The shear enormity and permanence is breathtaking frighting. Made all the more complex with the latest generosity of people. Ok here's the deal. I am realizing that not only will this precious little person need me for the rest of her life but that she relies on me to make the right choices not just for now but for ever. Not only that, but if I screw up now... right now... like within the next few months to a year.... if I screw up now, she could literally be screwed for life. I have thought about that with the boys but with them I realize that there will come a point in time where they will become adults and responsible for their actions, their lives and their care and well being.Chloe might not ever get there. So lets say for the sake of argument she does have AS, and I don't get her in speech fast enough or enough sessions period. She is then delayed on her ability to communicate with me and those around her. She then in turn becomes frustrated and acts out. Because you can't discipline her, she gets to where acting out is the norm. Or if I don't do enough PT then she isn't mobile or she is more ataxic that she could be. See what I mean? Now here's were it gets really tricky. People are giving us money for her medical bills. That's wonderful, and well needed. HOWEVER I now feel like I have this added pressure of being a good steward of this money. For example. people are giving us money for Chloe's medical needs but what if my deepest hearts desire  is answered and they do the tests and she doesn't have AS??? that would be GREAT but then do we give the money back? do we apologize for leading them on? Do we apologize for her NOT having AS? Also there is this conference coming up. it's a week long. and it's in Utah, and it's $1,000. BUT it has SO MUCH information!!! Not only would we learn about the latest break through technology, research, and eqipment. We would go into seminars about how it will affect the boys, and our marriage. (which it already has) and  most importantly we would meet parents of other AS kids. Did you know that the ASF states that their are currently only about 1,000 AS kids in the whole US. That to me is amazing. Like my pediatrician said, most peds docs go their whole careers without ever seeing a AS child. So to be able to go to this conference would be like a tall glass of ice water. Oh and the kicker, they only hold this conference every two years.  So if we wait till we get a definitive answer it could be to late to attend and we will be missing out on two years of utilizing the info we would get. However... would that be a colossal waste of the money that people would be giving us?If I send in this scholarship packet I could possibly get a scholarship that would pay for everything minus the airfare to get there. But the food, conference, and hotel would all be covered. I don't know. OR what happens lets say if I go and get overwhelmed (kinda like at our first home school conference just this is much bigger and more technical) and I freak out and have a panic attack and it causes a brain aneurysm and I keel over and die. Yeah ok that was a bit over dramatic, but do you see how I feel totally out of my element?Or what about if we use the money to buy a new radiator for our van that is (Bless it's little GMC heart) handing on with a prayer. Or if we use the money to fix the floor that is about to fall to the ground. You think I'm joking but if you jump in our living room you would swear you were on a trampoline. Or the million other things that need money that isn't there. Plus how do you know what God wants you to do as apposed to what you think is best. I want to do whats best for Chloe. I want to best the best mom for her and I know that's what God has called me to do, because, well He gave her to me. Grrr. at what point in life do you not feel like a kid inside who is just playing house? I'm 29 and have a 7 year old child and I thought by now I would feel more like an adult. I guess I did for a while but all this is just making me feel like I am a scared little girl that needs permission to move. Ok so this is getting really long and depressing. but I want to say that I am so grateful to all my friends who have listened to hours of me rattle on and on and still pick up the phone when I call..
whew... just writing all this feels like I am a doing the wave all by myself.

Today and what that means

Today we had Chloe's MRI. Fortunately we got the results back fairly quickly (because Dr. Mozer ROCKS). Her MRI was completely normal!!!! Why the techs acted so oddly I have no idea but it's cool. What does a normal MRI mean in relation to the Angelman situation? Nothing. It doesn't mean that she doesn't have it, but it does mean that she doesn't have something wrong in addition to. If that makes sense. It means that she has a normal looking brain. That's about it, from what I understand. So here is the tentative time line and where we are at so far.
This Saturday we have the EEG. If she has Angelman's then the EEG will show (this is taken from a 2003 Medical Journal): Tomorrow morning (4/6) I will call the geneticist again and hopefully his nurse will have more answers on whether or not our insurance will pay for the Angelman test. If they do pay then we will go to Quest to have her blood drawn ASAP. If they do not pay then I will make more calls to get a price on the test and then we will figure out how to pay for it out of pocket. One way or another we will get the test done. Once we have the blood drawn then the 4-6 week wait clock begins. From there two scenarios will happen A.) The test comes back negative and we talk with the geneticist again and we get her tested for the next thing on the docs list and we will continue with her therapies as normal.... OR B.)It's positive, in which case we do everything we are doing now with the exception of a few things, we will step up the various therapies, we will get her on disability and we will start the process of laying the foundation for her care and well being for the rest of her life. We will start learning sign language and the million other things that she needs us to be one step ahead of her.

The pattern most frequently observed both in children and in adults has prolonged runs of high amplitude

rhythmic 2–3 Hz activity predominantly over the frontal regions with superimposed interictal epileptiform discharges. High amplitude

rhythmic 4–6 Hz activity, prominent in the occipital regions, with spikes, which can be facilitated by eye closure, is often seen in children under the age of 12 years.

Also a slightly new development, her shaking isn't getting better, even though we have been trying to keep her blood sugar level, so today I bought a glucose monitor to see what is going on. Please pray for me. the thought of sticking Chloe and blood kinda makes me nauseous. So please pray that I can do it correctly and I don't faint. yes ok, I get kinda light headed around blood. it's a thing. Anyways we are hoping that by monitoring her blood sugar level it will give us more insight into her shaking. 

I hope this answers some of the questions and helps with anyone wondering whats up.

whats up in my life....very depressing and just blah

It's been a while since I've blogged. Lots been going on. Mostly due to Chloe. Our little girl is 16 months old. She weighs 15lbs and she is severly behind in every area of life, to give you an idea here is a bullet point list I made for our genetist appointment last Friday (more on that in a moment):

Chloe's symptoms and/or concerns include:
Congenital Miscrocephalus (present since birth)

Failure to Thrive (present since birth)

PAC's

Esotropia

Hypoglycemic

Tremors (ongoing) Physical Therapist said they appear to be attention tremors
but that they are also intermittently over all her body

gross low global tone (ongoing)

planter grasp reflex with curling of toes (noted on 2/04/11)

Toe hallux valgus right is worse than left (noted on 2/04/11)

Peabody Developmental Motor Scale of 32 for stationary (9 months) and locomotion raw score of 38 (7 months) (noted on 2/04/11)

arm flapping (on going)

one word spoken "Mama" used intermittently (never used with eye contact to me her mother)

little outside babbling

first smile one day after birth

first clicking noise 2 weeks after birth

has pulled up twice unassisted, each time she pulls up with her elbows and her upper arms.

army crawls

has started getting on all fours and rocking but unable to get forward motion.(started one week ago) (3/22/11)

When I put all this together in a nice neat little chart I looked up every word in her 150+ page medical records that I did not know the meaning too. I took notes and I became familiar with her whole chart. Upon looking up different words I happened upon a site that mentioned a thing called "Happy Puppet Syndrome" I looked it up out of curiosity, but low and behold I discovered that it fit Chloe as if it had been written about her. Texting my doctor I asked if I was crazy for even thinking this might be it. He didn't think I was. Hoping I was wrong I waited the two days and then on friday morning I brought it up to the genetisit. I despratly wanted him to run the tests to appease me but to say that it was more likely this that or another that wasn't so bad, I mean this is a RARE syndrome. VERY VERY rare, like crazy Mystery Diagnosis rare. And as we ALL know rare only happens to other people right? After looking her over and spending an hour asking me all kinds of questions he said that he didn't want to waste time or money testing things he didn't think it was so he would only test for one thing. Angelman Syndrome. aka Happy Puppet Syndrome. About two hours after walking out of the mans office the enormity of the situation hit me and had it not been for a dear friend I am sure I would have been crushed by it.  We are now going to have an MRI and a EEG done along with another Chromosome test. the MRI and EEG (both are to be done with Chloe put to sleep) will be done sometime next week or the week after. I feel that if the EEG comes back abnormal then that is my conformation that it is. I would give anything for this not to be what she has. I want so badly to wake up tomorrow and her to talk and walk and act like any other toddler her age. I want to see her in her pretty pink tu-tu twirling around awkwardly at her first dance recital. I want to hear her tell me about her friends and her hopes and fears. but I know... this is not going to happen. God could heal her, He spoke the world into existance but he wont heal her. I'm not mad at him. I know that he knows more about this whole thing than I do. I know that he is in control and that ultimatly he will be glorified in this. I know this, I don't like it. I don't like that He CAN do something but he won't, but I'm not mad. I'm just sad. So very very very sad. I have cried no stop since Friday. really. I have already gone through two brnad new sets of contacts. I eat because its time to eat not becauce i'm hungry, I go to bed when its time to go to bed but I dont sleep (unless Bobby gives me a nifty pill to hlep me sleep)to say I'm an emotional wreck would a this point be an understatment. Everyone says that I need to wait to get the test results. But see I think of this as my mourning time, and when the results come back it's time to kick it into gear and make the million calls to the medicaid disability office, the social security people. the therepists, the million other people I need to contact to get Chloe the best possible help and all thing things she is going to need, we are going to have to think about education options and long term care options. We are going to need to look into either handicapping our hoome or look into finding the funding to get a house that is larger that can accomidate her and the the equipment she is going to need and the resourses that she is going to need. A bigger house with more handicap features would be nice. Heck a house with a second bathroom and with out mold or structural issues would be nice. but the point is right now I can mourn the loss of the dreams I had for her, the prom and wedding dreams, the ballet and crummy art project dreams, the dream of she and I in our kitchen with little matching aprons making thinksgiving dinner for everyone. The dream of her holding her daughter and letting me kiss my granddaughter The million other little dreams you have that you don't know you have. In an instant all that is gone, and it is replaced with adult diapers, infant toys at 20 and  an infants mindset in a ever growing body, Now is my time to lose it because later I will be too busy,Everyone has asked what they can do and I have really had no idea, I;m really not thinking all that clearly. but I have thought of some things and just not had the gumption to really say what is it that I need, but here on my blog in my own little world, here where I am convinced no one will ever read I can tell you. because you aren't real.  I need prayer... lots and lots of prayer. Mostly Prayer that either she will be healed or that she doesn't even have it.  I need you to look up what Angelman is yourself because for me to tell you is hearbreaking and for you not to know is heartbreaking. I need my house cleaned and I need my laundry done. I was behind in housework before being a homeschool mom of three littleer ones but now... yeah it's bad... I mean like the begining stages of hoarders bad. A clean house always makes me feel better and it lifts my spirits but right now I can't. And prayer, I can't get enough prayer. WOW I sound pathetic.  but yeah that's about how it goes. I have never been so low. So that is why I haven't been blogging. Just in case you wondered