Man, its been a while...

Hello friends :)

      I know its been quite a long time since I last blogged. Almost a month! Needless to say I've been extremely busy and very tired. I usually blog after Anabelle has gone to sleep and lately I've been going to sleep shortly there after. A lot has happened in the last month. Let me try to catch you up.
      Shortly after Anabelle's official diagnosis we visited Shriner's Hospital in Portland. I don't feel like they did too much more there than we could have gotten done in town but it was nice to see some orthopedic specialists and get an idea of where she is at; also it was free. We talked with them about ordering a bantam stander (pictured below) that will help her digestion, socialization and quality of life. We also had her fitted for some new orthodics that are hopefully going to be much better than the old ones. We also discussed getting botox injections for her legs to help them relax. Quick lesson on botox: when people get it injected into their face they hope to relax their muscles so that their wrinkles don't show. Well much in the same way it can help Anabelle relax her leg muscles. We will be back at Shriner's in the middle of June for her botox eval and injections.
      The other good thing that happened while we were in Portland was we got to meet the directors of the MLD Foundation, Dean and Teryn Suhr. They gave us a lot of information on how to move forward, what to get in motion now, and what to expect for the future. I have to say it was quite relaxing to eat dinner with someone who knew that Anabelle's behavior was "normal" and weren't at all bothered by it. They were a very sweet couple and are a great source of wisdom and resources for this process. Through their foundation they have created an email list that I am now a part of with over 250 MLD families and that has really helped me understand this life I'm living and not feel so alone.
      After we returned home we started speech/swallow therapy. We started with a clinical evaluation of her swallowing and found out that Anabelle's timing (from her mouth to swallowing) was a little off and it would be a good idea to start her on a mechanically soft diet. Nothing dry, no crackers, and sans anything else she may choke on. Anabelle has really been having trouble eating and I was really starting to get worried. After seeing Anabelle try to eat Teryn insisted that we get the ball rolling on getting Anabelle a g-tube. She will get a g-tube w/ mic-Key button (pictured below). Its a nice little button that they can't really mess with and you just open it up and attach tubing for feeding. The consult for that is the first week in June. We will have the consult here in Bend but she will probably have to have her tube put in at Doernbecher's because they can't put her under with gas anesthesia because it will accelerate the progression of Anabelle's demyelination (disappearing white matter). So we would like them to be able to do it with more of a local anesthesia, which may not be in a comfortable area for the Gastro Doctors here in Bend. It's a big step for us to get to this part of the process but at this point she is hardly eating anymore and having to drink three PediaSures a day just to get enough calories. About a week after the clinical eval we had an x-ray eval done called a modified barium swallow. They had her eat food with barium in it and watched where her food went on the x-ray. Unfortunately the results from that were worse than we thought. To give you a comparison, you and I would cough just as liquid was touching our vocal chords, Anabelle is letting food and liquid fully penetrate her lungs before she coughs. She is getting more particles into her trachea than we initially thought. So now we are having to thicken everything she drinks and also she is on an almost completely pureed diet. It has been hard to see her digress so much but we are taking it one day at a time.
     That brings me to today. Well, yesterday. Yesterday Anabelle woke up from her nap at about 2 and was sitting with me when I noticed she started to get really sleepy very suddenly. She was starting to fall asleep in my arms which is very unlike her. I called her doctor to make an appointment and their earliest appointment was 7:30 pm.  The nurse on the phone asked me if I had taken her temp and I said no, and she didn't feel like she had one. After I got off the phone with the nurse I checked her temp and it was 101. I gave her some medicine for her fever and again she started to fall asleep in my arms. Suddenly she arches her back, her eyes roll back into her head and her arms are stiff as a board out in front of her just moving back and forth. She was having a seizure, I called Ronn being the smarter medic in the family (and all my medical experience went out the window when it was Anabelle having the issues) and he said just hold tight that he would be home soon but I just couldn't wait. I called 911 and the operator walked me through everything I should do. Anabelle's face started turning blue really fast so she had me lay her on the ground and check her mouth for anything blocking her airway. Next Anabelle spit up a little bit and her color came back to normal. At this point (the seizure lasted about a minute) Anabelle was starting to come down from her seizure but she was unconscious. The cops arrived before the paramedics and started to assess her. First there was a moto cop, then a pair of cop,s then a fire truck and then an ambulance with three paramedics. (I wonder what the neighbors were thinking.) Anabelle was still unconscious as they were giving her oxygen and waiting for her to come to. She was out for about 15 minutes and then they decided to transport her to the hospital by ambulance just in case she had another seizure. Anabelle started to come to just as we got her onto the ambulance. After a little while in the ER, the doctor ordered a flu test, a chest x-ray and a urinalysis. Anabelle came back positive for the flu and RSV. The doctor came in and told me that the flu caused the fever and the fever caused the seizure. Unfortunately with Anabelle's brain condition her seizure threshold is lower. The doctor decided to keep Anabelle overnight for evaluation. They did an EEG after we got up to her room to look at her brain waves and they said that her brain activity didn't show she was seizing during the EEG (they were worried about seizures we couldn't see), but that her brain activity was a little slow and disorganized, which is abnormal for a normal kid but normal for Anabelle (given the MLD). We got home about 3 this afternoon and I am so glad to be home. Anabelle is on some meds to help with the flu and I am closely monitoring her fever. We already had a follow up scheduled with the Neurologist in Portland at the end of May and we will be following up with Anabelle's pediatrician next week.
    WHEW!!!! I'm exhausted! Not just from the last couple days but I think it is really starting to hit me how serious this is and I'm getting really frustrated! I watched the neighbor girls (Anabelle's age) today run around the col-de-sac pushing a stroller and talking to each other about all sorts of things and it hurts me to imagine what Anabelle would be like without this stupid disease. I HATE THIS!!!!! I am so frustrated with how awful this disease is! It just makes me so angry I want to scream! I know that God is good and He is faithful but shoot, this really really sucks! And its so hard to know that the best years of her life are behind her not in front of her! ERRRGGHHH!!! Sorry for my little rant but I think I'm starting to hit a wall on this. I am really running out of fuel. Thanks for listening (or reading). As always I will let you know more as I know more.

Alex

Bantam Stander:




G-tube with Mic-Key


      

The Blood Results are In...

First, let me just say thank you to all of the people that have really come along side us in this. You guys are a huge part of the reason we are still standing. So, thank you. Next, the results. This morning the pediatrician called me and said that the blood results came back and they seemed to be inconclusive. The levels of enzyme were low, however, the PhD doing the lab test did not believe this lead us to a conclusive diagnosis of MLD. The pediatrician then explained that it may be a good idea for us to get a genetic mutation screen. With Anabelle already getting the screen they would do Ronn and I's at the same time. I asked "so genetic mutation meaning that we aren't carriers and this is specific to her?" and she said both. That it could be a gene mutation specific to her or Ronn and I could be carriers of the gene mutation and passed it on. This screen will apparently be able to resolve all of that. We also discussed that the neurologist in Portland had done some other tests and that I hadn't heard back from him yet either. She said she would contact him and let me know. At about 3:30 this afternoon she called me back and said that after talking with the neurologist, he believes that with her clinical history and the low enzyme levels, he is 99% sure of a MLD diagnosis. He believes that the PhD at the lab didn't think the levels were conclusive because he did not know Anabelle's history. We are still going to continue with the genetic mutation screen and we also are still continuing with the treatment of the symptoms. Ronn and I are doing okay. We are not at all happy about the future for our daughter, however we know that God is going to use this for His glory and we know that He has something for us to learn from this. Thank you Lord for your light and strength in our lives. You are our Rock!

Just to get y'all up to speed...

Anabelle just got over the stomach flu. She was throwing up for almost 10 hours yesterday. We got the receipt from the blood lab however Anabelle's pediatrician is on vacation until the 15th so we haven't heard anything as far as results yet. Its kind of annoying when I go to the pediatricians office for Anabelle's flu yesterday and the "fill-in" doctor tells me about what a great time she (Anabelle's Pediatrician) is having biking through Europe. I totally understand that everyone needs a vacation every now and then, but after I've explained to you that I am waiting on lab results to find out whether or not my daughter's going to die in the next 10 years, please don't tell me that her Pediatrician will be coming back more relaxed than when she left. And not to mention, she (the fill-in) informed me how it was a "much-needed" vacation. ARE YOU KIDDING ME?! Much needed? At least leave someone with some adequate information about my daughters case history so I can get some freaking answers during your much needed vacation. Whoa, sorry about the rant. I guess I was just a little annoyed. On another note, Anabelle is starting to get used to her new muscle relaxers and isn't acting like a total zombie all of the time. It's also gotten much easier to do her daily stretching. Even cooler, the director of the MLD (metachromatic leukodystrophy) Foundation happens to live in Portland and wants to have coffee with us when we are up there on the 23rd, no matter what the test results are. He also discussed with us getting Anabelle qualified for a make-a-wish. It's really hard to think about even filling out that form. I've always admired what fantastic work make-a-wish does, but I never imagined myself filling out a referral for my own daughter. I am also supposed to be getting in contact with a social worker soon to discuss what kind of other benefits Anabelle qualifies for. QUALIFIES FOR? Why does my daughter have to qualify for anything? The only thing I ever wanted her to qualify for was a scholarship to go to college! All of this "disability" talk is making all of this a little too real for me right now. Whoa, there I go again. Also, we will be going up to Shriner's on the 23rd. They, from what I'm told, are orthopedic specialists, and the doctor evaluating Anabelle is a specialist in MLD. Our goals for this appointment are to get some better orthotics and also some ideas for pain and muscle management. We are hoping also to figure out what we do from here as far as physical and occupational therapy. Anabelle is also starting to have trouble swallowing and talking. We are supposed to be getting referred to a speech pathologist soon. I can't even begin to express what an insane couple of months this has been. I am trying to keep in communication with my Lord and trying to listen when He is speaking to me. After Job had lost everything (even his kids), and his "friends" continue to blame him Job says "I know my redeemer lives" (Job 19:25a). I know how much it angers Satan, when I praise my Father, as he throws his best at me. And it shows when he only seems to throw me more. I pray I am like Job. It is my hope that the Lord has looked upon me and given Satan the power to hurt me knowing that I would only praise the One who made me, and knows me, and loves me. And how gratifying it is to show Satan how much power he doesn't have over my soul!

And I'll praise You in this storm
And I will lift my hands
For You are who You are
No matter where I am
And every tear I've cried
You hold in Your hand
You never left my side
And though my heart is torn
I will praise You in this storm
 

The results...

Well we're back. Just got into Bend about an hour ago. I know most of you are anxious for the results so I will cut to the chase. The doctor says he is pretty sure that she has Metachromatic Leukodystrophy (MLD) (he is just waiting on the blood test to confirm it). Cerebral Palsy is completely off the table now. Now, what does this mean for Anabelle? Well, this is a progressive issue. Even if it isn't MLD it is most likely something that is similar but also progressive. Progressive meaning it is going to get worse. The white matter in her brain is slowly disappearing causing miscommunication in the nerves. The muscle issues she has are only going to get worse, damage will slowly move into her cognitive function and eventually her brain will no longer tell her organs what to do. At best, we are looking at her living from 5-10 years old. But for the most part the last bit of her life will be sustained by medical intervention. We can only treat the symptoms at this point. The doctor prescribed her some muscle relaxers to help with the spasticity (tightness) and the pain. If it happens to be MLD that means Ronn and I would have to be carriers (it's genetic) and we would have to be recessive carriers; which if you remember anything from biology this is a pretty rare occurrence. If we do move forward with an MLD diagnosis Ronn and I will be doing some genetics testing to figure out what were looking at for future kids or our family members. We should be going back to Doernbecher's in a couple months to see where we go from here. Also we are going to get Anabelle in at Shriner's (because of their orthopaedic expertise) and try to make this descent as easy as possible for her. The best thing we can do now is keep her comfortable and give her the best quality of life.

We thank you all for your thoughts and prayers.

"Consider it pure joy, my brothers, whenever you face trials of many kinds, because you know that the testing of your faith develops perseverance."  James 1:2-3

When It Rains It Pours....

Thursday March 14, we had Anabelle's MRI and here are the results...

The covering (myelin sheath) on some of the nerves in her brain are not there.

What does that mean?
Well, much like the insulation on a wire helps it to transmit a signal, the myelin help the nerves transmit better. This is why the signal from her brain is messed up by the time it gets to the rest of her body.

 So here's what the doc said:

"If Anabelle was premature, her prematurity would answer this issue. However she was not a preemie which is why it raises more questions. At this point we are looking at two things... either a genetic disorder or an auto immune disorder. This is why I think it would be best for her to be seen by a Pediatric Neurologist at OHSU (Oregon Health & Science University). I have spoken with Dr. Wray at Doernebecher's and given Anabelle's medical history and what her scans look like it is pretty possible she has what is called Leukodystrophy; which is a genetic disorder that effects the myelin development."

Now, I warn you. We are not even 25% sure this is what it is... it's just what makes the most sense. Also, I would highly recommend not looking up Leukodystrophy because there is some really scary stuff in there and we are not quite sure that is what it is. I could give you the specifics about the disease but the big concern is that if she does have it, it is most likely progressive; meaning it will get worse with time. And it's genetic, so Ronn and I are most likely carriers.

There has been a lot more discussion about what we might be looking at between Anabelle's pediatrician and I, but to save you the details for something we don't have a diagnosis for yet, I will leave it out.

Anabelle has an appointment on Monday the 25th with the Neurologist at OHSU and we will figure out where to go from there. For now... we treat the symptoms as they show up just as they've been doing.

Thank you all soooo much for all of your prayers and support, we really appreciate it!

Let you know when I know...

Quit telling me it's going to be okay...

I have a great support system. I have an awesome God, I have a husband who loves Anabelle and I like crazy, I have parents who moved from So Cal just to be with us, and I have a church family that has given me non stop support but somehow I still feel so alone. And everyone wants to tell me "Don't worry it's going to be okay" "There are so many worse things that could be wrong" "She is such a beautiful and strong girl. She will pull through." Now, I am not at all dissing any of those people for what they have said. Im sure I've said every one of those to myself or others and I know that they and I are only speaking from our hearts when we have no idea what else to say. And I believe all of those statements to be true. But sometimes I really wish someone would just hold me, let me cry, and tell me "this freaking sucks." Because it totally does. I have done a pretty good job of being a really brave mom for the past almost 6 months, and I have honestly felt pretty secure in the situation with Anabelle but this week has been rough. I've had about enough of things being wrong with her. Last thursday we took her to the ER because her eye was drifting towards her nose. Turns out she probably has strabismus (lazy eye) and will most likely need glasses (the appointment is on the 20th) also the Dr. wants to do an MRI just to rule out any big stuff like tumor or stroke. And to add on, today after talking with the OT she thinks Anabelle should have a barium swallow study done because she probabaly has low muscle tone in her throat muscles because of her CP (we noticed she was choking a lot and coughing after every drink). Also, we've had the AFOs two weeks and she still hates them. She can't stand on her own yet and most of the time wiggles her way out of them (and they are not as easy to put back on as one might think). I hate to complain because I know there are so many other things that could be wrong. And there are so many parents that are dealng with much worse than I am, but you know you grow up hoping yours isn't the weird kid, the geeky kid, the bad kid, or the just plain different kid. I ended up with a different kid. And I love her more than words can express and I only hurt because I want the best for her.

Just when we thought we had it figured out...

Well it didn't take long for another curve ball to be thrown at us... Yesterday Anabelle and I were in the kitchen eating lunch and I looked over at Anabelle and she had her eyes crossed. I told her playfully "quit doing that it's weird" and she shook her head and quit. Then she looked right at me and I watched her right eye drift towards the center of her face while her left stayed put. She closed her eyes shook her head and refocused again. Now I have heard/read that children with "Spastic Diplegia CP" have trouble with vision and often end up needing glasses, but this just seemed too strange. After asking her to look at me about 10 times and her eye doing the same thing I panicked a litttle (wouldn't you?) and I called her doctor. Well of course the doctor wasn't "in today" so they referred me to the 24/7 nurse help line. I was on hold for over 20 minutes before I finally got through to someone. Now, I don't know if you have ever tried to keep a 2 year old quiet for 20 minutes but its not easy. Finally I talk to the nurse, explain what's going on and she says "Well I just dont know, let me call a physician and I will call you back." Ugh... more waiting... She calls back tells me the Physician isn't sure either and we should probably go to the ER and have some sort of emergency scan done. I call Ronn and my mom they both agree to meet me at the ER. We get there and wouldn't ya know it there is a huge wait. After waiting about 3 hours we finally get a bed. We sit down, we wait, and then the doc comes in. She says "well she isn't doing it now and doing a CT scan would do more harm than good. Also an MRI would take more coordination tonight than I feel is necessary, so I will call her Pediatrician and recommend that you have an MRI done and then you are free to go home." WHAT?!?! You mean to tell me we have waited four hours for that?! Now I am not mad at anyone. I understand the ER has certain protocol, the Peds office has certain protocol and there were people with more serious issues going on in the ER last night. But I was just so let down. I really wanted answers. So I called Anabelle's Pediatrician this morning and she has an appt set for Monday and my hope is that we can get an MRI scheduled and maybe get Anabelle referred to a neurologist. I will let you all know more when I know more. Until then... Thanks.