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.