And so here we are...

I know it's been a week since we've been home. I'd like to say we were able to sit back and relax but that has not been the case. I didn't update for the week for a couple reasons, was busy, busy, busy, had to speak with my family first about some findings, and wanted to meet with her PCP to discuss the results and where we go from here.


This will be long (I think) if I can get my brain to slow down long enough to put the words on paper, well in this case, screen. I am going to break this up into at least 2 posts over the next few days just because there is so much information to digest and weed through.

First on Alana as of this week. It started off relatively okay, she was tired as was expected but then by Wednesday she stopped eating and was barley drinking. She started sleeping, a lot. By Thursday she was down right lethargic and wasn't doing anything much more than crying or sleeping. She had about an hour of good right after a nap and eating a small snack but then was out for the rest of the day until around 5 o'clock. Spoke with Dr. Mc and it was agreed she needed to have labs done. Labs came back as OK but turns out her iron is low and her Ferritin is still low, which it usually is. Iron hasn't been a problem before though. Her Ferritin yes, it's been low for years for some reason, but her Iron is usually okay. We are going to have to figure out what to do about that but iron supplements can cause constipation so therefor another huge problem. This week doc is going to figure out how she wants to handle this one up. In the meantime Alana is eating again and having more moments of doing well so Im going take that as a good sign.


Now on to where we are at.


If you go look this up on the web it comes back with everything from "it's not a problem" to "it's a life altering debilitating problem". Where exactly it fits for Alana is questionable. I will be including some direct quotes from the Genetics doc to try and help make this easier to understand.


Alana as what's called Ehlers-Danlos Syndrome. This is a dominant genetic disorder and here is a small snippet from one of the sites:

"The collagen in connective tissue helps tissues resist deformation. Collagen is an important contributor to the physical strength of skin, joints, muscles, ligaments, blood vessels and visceral organs; abnormal collagen renders these structures more elastic. Depending on the individual, the severity of the mutation can vary from mild to life-threatening. There is no cure, and treatment is supportive, including close monitoring of the digestive, excretory and particularly the cardiovascular systems. Occupational and physical therapy, bracing, and corrective surgery may help with the frequent injuries and pain that tend to develop in certain types of EDS, although extra caution and special practices are advised to prevent permanent damage."

It appears that I am a carrier as my family has a lot of the overall symptoms and for myself I have 6 or so of the markers for diagnosis as well as Shaylin. There still is the question as to Larry if he is a carrier because the doctor raised the question of Alana getting a "double whammy" and hence her severe presentation. But this was the reason I held off posting about what this was because I needed to speak with my family in person because if I am a carrier then that means I got it from at least one of my parents ergo my brothers and sister have a chance of passing this onto their children to some degree. 

"Sometimes we get kids in here nobody can really figure out because they have a little bit of this disorder but then they look a little bit like this disorder but it turns out the reason they look like they have this and that is because they have both disorders..."

I'd like to say that the Mitochondrial disease is off the table but it is not, in fact we've been told to "continue to treat her as such" and in fact they are putting her back on the mito cocktail. That above was the answer given for those questions. Neurology told us that they do not give that diagnosis which is both a godsend (??) and a huge frustration. BUT it is easier now that we do have a solid diagnosis now with the EDS. I will be working my way down system by system now to try and help make sense of this. 

Going all the way back to the start of all this, of Alana. 

"We notice that certain things like an inflammatory stressors seem to effect our patients so its not uncommon for us to have a kid who was quite normal, and maybe made it up through their teems without having any difficulties, get hit with Mono and now all a sudden they fall apart and they stay that way..."

By the time Alana was 2 she had tested positive for Mono. I've always held onto that, and they've checked many, many times the antibodies to this for her and she has them (meaning she's already had Mono). This statement was made before the labs they did showing she had had mono came back. 

This is the stack of labs that were done while we were there, most have 4-5 different labs on each sheet. 

I am going to call it a night for now. The next part is going to cover lungs and why she needs fluids. There will be even a car reference to go with it that made it easier for TJ to understand why Alana's "sensor" that should tell her to drink doesn't. 

Alana and her new puppy, Atka (which means guardian spirit in Inuit, seemed fitting)