Back again...

(The picture is on the way home from my parents house, I'd like to say that it's some backcountry road but it's not, it's Alaska all the way around all the time) Alright we are back again. We ended up staying at my parents house longer then anticipated and it was nice. Alana got to hang out with grandma and grandpa and we got to spend some one on one time with Noelani and Shaylin. I would have updated sooner but my moms connection did not like blogger or Caring bridge.

Things have been the same with Alana though, she's running hot right now (over 101) and has been for 2 days now but her leg looks good with no signs of infection. She's been sleeping a lot more then usual (and that's saying a lot because she sleeps so much) and still is tired.

So anyway, some of the things that I didn't touch on about Seattle were in regards to another idea that Dr. Haun had about a possible diagnosis for her. It's called familial dysautonomia and you check for it via labs which they did when they placed her IV line. No word on when those will come back but here's a quick background on it:

Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III.

Problems related to this disorder first appear during infancy. Early signs and symptoms include poor muscle tone (hypotonia), feeding difficulties, poor growth, lack of tears, frequent lung infections, and difficulty maintaining body temperature. Older infants and young children with familial dysautonomia may hold their breath for prolonged periods of time, which may cause a bluish appearance of the skin or lips (cyanosis) or fainting. This breath-holding behavior usually stops by age 6. Developmental milestones, such as walking and speech, are usually delayed, although some affected individuals show no signs of developmental delay.

Additional signs and symptoms in school-age children include bed wetting, episodes of vomiting, reduced sensitivity to temperature changes and pain, poor balance, abnormal curvature of the spine (scoliosis), poor bone quality and increased risk of bone fractures, and kidney and heart problems. Affected individuals also have poor regulation of blood pressure. They may experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. They can also have episodes of high blood pressure when nervous or excited, or during vomiting incidents. About one-third of children with familial dysautonomia have learning disabilities, such as a short attention span, that require special education classes. By adulthood, affected individuals often have increasing difficulties with balance and walking unaided. Other problems that may appear in adolescence or early adulthood include lung damage due to repeated infections, impaired kidney function, and worsening vision due to the shrinking size (atrophy) of optic nerves, which carry information from the eyes to the brain.

So that's a quickie version of FD and I am not sure where I sit with it. There are things of course that make sense and account for a lot of symptoms that she has and has had but then of course, there's things that don't fit. Go figure, the story of Alana right. There's so many things that seem promising when it comes to diganoses for her but then nothing pans out. I do know that if mitochondrial and now FD do not account for anything with her that we are going to apply for the NIH rare disease program (http://rarediseases.info.nih.gov/Resources.aspx?PageID=31) and see if we can get accepted and maybe some ideas on other possible avenues to follow.

I really struggle with when to stop. When do I stop taking her to other states, other doctors, other everythings to try and get a diagnosis for her. I know that even with some of these diagnoses that there is no treatment, only a name, but if we had a name then maybe someday there'd would be a treatment. It's bad enough knowing that she's battling something so intense that it's slowly robbing her of enjoying a healthy life but to add to it that it's either so rare or just completly unheard of that we can't even make those first steps towards treatment. Right now we are resigned to treating things as they come up, not heading anything off that's on the horizon. I know that I shouldn't take those things to heart like I do, but yet, I do. I feel like I should be trying harder to stop whatever this is and yes, I do know that some things are out of my control (gasp! that news was just broken to me recently lol), but with your children and their health you do what that to be something you want to be in control of.

All we can do now is wait on those results from the new testing and also we are still waiting on the results from the Muckle-Wells gene test. That's like a little skeleton waiting in the closet that one. It's making me nervous just waiting for it but clearly Dr. Haun thought it wasn't a great or even good possibility given the fact that he wanted the muscle biopsy and FD testing.

I ended up cancelling her eye appointment so we could hang at grandma's house longer so we will take care of that next month. It will keep and to be honest, she was done with appointments for a bit. We did go to her appointment with McDr and Dr. Demain and McDr again talked about the NG tube issue and what we are going to do with her increased GI motility issues. She had us add Phillips to the MiraLax to get things "moving" along and hopefully give her some relief from the pain of being backed up. She did also mention that she recived an email from Dr. Haun and was impressed by it. She said it was short but just letting her know that he would contact her as soon as the results came in and go over them. She is also going to contact the GI doc that rotates through here every couple of months (Alana has seen him in the past...) and talk with him about the increase in overall symptoms, of course in particular the GI issues, and also the NG/G tube talk. That was pretty much that appointment and we will check back in next week to see if she's gotten any ideas and make another appointment to see what the plan is in regards to the NG tube that I don't want to talk about...

Dr. Demain said that if the motility issues were being caused by her new allergies to wheat and soy they'd be better by now. She's been off those foods for more then enough time to see some resolution of symptoms in her GI system. He also noted that he didn't her any bowel sounds on examination and that wasn't good either. Think of it like a heart beat, just cause you don't hear it with the naked ear so to speak it's always making noise.

I know this was a long updated, kudos if you have stayed this far! Here's something I like to think about at times like this, it's from "Through the looking glass" (aka Alice in wonderland):

Alice laughed, "There's no use trying," she said, "one can't believe impossible things."

"I daresay you haven't had much practice," said the Queen. "When I was your age, I always did it for half-an-hour a day. Why, sometimes I've believed as many as six impossible things before breakfast."