Readmitted

When I last posted, we thought things were improving, but it turns out they weren't and aren't. We stopped a couple meds, gave it time, and nothing changed. In addition to the movement issues, she's been dealing with confusion at times, as well as extra sensitive eyes (she already has very sensitive eyes due to her eye disease, but this is even worse.) It all comes in waves. There are times she functions normally and then other times where she has any one of these things hit her.

I reached out to Dr Davies (Emma's transplant doctor in Cincinnati, who is an expert in FA), to see if she's knows about anything that could explain this. She said she would call Emma's local doctor, Dr H. Yesterday that happened, and Dr H called me afterwards to ask me to bring Emma back in to be admitted. They want to do a brain MRI, and this is the fastest way to do this. So, we arrived a few hours later and have been here since yesterday. Then, today, neurology stopped by and had a look at things.

Here's is a list of things they are currently thinking might be going on:

• Dr Davies said that they are finding more and more young adults, with FA, are developing brain lesions. Several of Emma's symptoms suggest this is the case. A brain MRI would help determine this.

• They are also discovering there is a Fanconi Anemia Neurological Syndrome (FANS) that develops in some young adults. I don't know a lot of details yet because this is all very new and there aren't a lot of details to find. But a friend sent us an article that talks about central nervous system abnormalities in FA. One part says that in addition to the bone marrow failure, cancer, and congenital abnormalities,"Brain atrophy and other abnormalities of the brain have also been reported."

• Neurology walked in today, not knowing any of the above, and said that it seems like she might have Functional Neurological Disorder (FND), which is "a medical condition in which there is a problem with the functioning of the nervous system and how the brain and body sends and/or receives signals, rather than a structural disease process." Basically, if her brain was a computer, this isn't a problem with the physical computer itself but with the software/programming of the computer. If it is FND, this will not show up on an MRI. Though, the neurologist suspects Emma's MRI will still be somewhat abnormal. (Just not for this reason.) I suspect what she describes here is part of what they are seeing with FANS.

f a t i g u e

When it comes to Emma's fatigue (she often sleeps 13-14 hours), Dr Davies said that they are discovering some with FA are unable to process glucose properly. It's not like diabetes. It's more like hibernation. A typical person burns 1000-2000 calories a day, but some with FA are only burning 250 calories a day and kind of shut down otherwise, sleeping a lot.

Dr H was very intrigued by this and said that this is very unique and not something he has seen in any other his other patients. They suspect this might be happening with Emma. Our local dietician is going to talk with Cincinnati's dietitian on Monday to learn about the diet they're using for FA patients to help with this. It's a fat + protein formula instead of carbs.

G I

Any of the reasons listed above seem like they could also explain what might be behind the digestive issues she's having. Speaking of which, she's been constipated again, despite us keeping things soft with a daily laxative or two (currently senna and lactulose). So, while we're here, they're helping clean things out again. It pretty clearly seems to be more a matter of her intestines being unable to move things along properly, unless it's really, really soft. I'm not sure how to do the amount of laxatives she needs long-term. So, we need to get that figured out.

M R I

We'll likely have to wait until Monday for the scan since two of their MRI machines are down. Plus, they need to sedate Emma for the procedure, since she can't hold still, which will take a little more coordinating.

Anyway, this all has felt like the lamest rollercoaster ride we've been on. The amount of things that don't make sense is really stressful and the cause of many, many tears. I hope we get answers soon.

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