Testing, testing 123

Whew! What a day!

We started with a hearty breakfast of half a packet of oatmeal and three pieces of banana. This was such a huge accomplishment. She hasn't eaten that much in days. Fantastic.

Then we went down to the lab to have blood drawn and take urine samples. Then we had an hour to relax and play in the playroom before we met with the neurologist and RDS to discuss doing an electroencephalograph (EEG) and an electroretinogram (ERG). I guess I have been so concerned with her weight loss and hypotonia that I've forgotten to mention the seizures and her continued vision problems. She has had an EEG done before but it was quite some time ago and the neurologist believes that her vision problems (bad night vision, slow adjustment to light) and her seizures are directly connected. Thus, we had an ERG today and will proceed with the EEG and a CAT scan tomorrow. I'll tell you all those results tomorrow. If all goes well, we'll head home on Friday, probably in the evening somewhere.

Sleeping

At 9:00 this morning a nurse came in announcing it was time to take Maisie to her first appointment. She was shocked to see that Maisie was still in her pajamas, her hair a wreck and her teeth unbrushed, sound asleep. But I wasn't going to wake her. Not until I absolutely had to.

The change in Maisie has been so gradual I sometimes forget how tiny she is, how much she is regressing. She used to run and jump and skip and eat six or seven or eight meals a day. She was a happy, chubby baby. Recently, eating is hard, much less running or jumping. Even on days when she is strong, her coordination is off. She feeds herself like a baby, missing her mouth and getting yogurt or banana everywhere. She's losing her fine motor skills.

The research center is more like a cozy hotel than a hospital. Unless absolutely necessary, the beds are more like real twin beds. The rooms are built to accommodate one or two families, which means two child-sized beds or cribs for the child patient and two twin beds for the parents. You can request to be put in a private room, but its more expensive and Maisie loves to make new friends, so we're sharing our room with a little girl, J, and her mom, H. This girl is completely nonverbal. She has never spoken a single word in her four years, but the connection between J and her mom is incredible. They both speak sign language, but more often than not J communicates with her mom through the most expressive eyes and faces I have ever seen. All she need do is look at H the right way and her mom understands -- she needs the bathroom, or food, or whatever else.

We were talking, H and I, about our children last night while the girls were sleeping. They have no idea why J cannot speak. All her tests indicate that, physically, she has no barriers, and yet she cannot coordinate her lips, tongue, teeth, cheeks, etc. to make sound come out. She does not even cry, but already I have seen her sit, focused, staring at nothing while she manipulates her tongue, jaw, and lips. "She's trying to speak," H said to me. "But she can't. And we don't know why."

Watching J and Maisie last night, sleeping right next to each other in their tiny beds, I realized with full force how close my own sweet Maisie came to this same fate. When she was first born, the doctors had no idea how extensive or crippling her neural damage might be. We were warned that she might never walk, speak, hear, or develop fine motor skills. And when she did all of those things and more we felt so blessed. We thought we were out of the woods. But we weren't, because here we are. Maisie had all of those skills and now, slowly, one by one, she is losing them. Why? I don't know for sure. Will they come back? I have no idea.

She seems so little compared to J. Her bones seem thinner, her body frailer. I've been in such denial for so long. In November I signed her up for swimming lessons at the Y at the suggestion of the physical therapist, and the clerk who I worked with didn't believe me that she was really four, not two. She's little, skinny, frail. The research center loans wheelchairs to kids (like Maisie) who meet certain requirements. <--- They gave us this thing when we arrived yesterday and I couldn't put Maisie in it. I used it to haul our luggage upstairs. But this morning, the nurse insisted. She looked so tiny. She literally took up maybe a third of the seat, and slumped agains the side of the chair. Her feet didn't reach the footrest. Before J and H left for their appointment, H suggested we take the girls out to lunch afterward. I didn't know how to explain to her that today might me a day in which Maisie can't eat. It might be a day just like the other night, a constant battle between hunger and exhaustion.

In other news, our first appointment here went well. Every child is assigned a care team composed of the most relevant doctors for their particular symptoms. For Maisie that meant a neurologist, an orthopedist, a speech pathologist, a rare disease specialist, and a chemist who performs the actual genetic tests. We already have connections with these kinds of specialists at home, but the research center doctors know each other well and have systems in place to communicate so tests and treatments do not overlap. The doctors made a nice long list of all the specific diseases we will be testing for and how they'll test. Our next step is a preliminary round of samples (blood, urine, tissue, spinal fluid) which they use to begin the DNA and chemical testing. They might take as many as three or four rounds of samples to make sure the results are accurate.

We've been here for less than twenty-four hours and already I'm exhausted. I'm tired of explaining. I'm tired of showing the doctors her limp fingers and the video I took the other night when she was too tired to eat, to hungry to sleep. I want an answer, and I want to go home.

The Butterflies are Getting Ready

In just eight minutes, we'll be on the road to the rare disease research center. It's an hour and a half drive, so we're leaving a little early for our 6:30 check-in, and I'm making Jeff take us because I. Am. A wreck. A first-class disaster. I'm so scared.

Well, I guess I shouldn't say that. It hasn't really hit me what's about to happen. I feel funny, like my stomach is not yet full of butterflies, but getting ready to be full of butterflies. The butterflies are getting ready, they're still in their cocoon.

I don't have much of a reason to be this anxious. We have heard nothing but praise for the center. We've met all the doctors and researchers who will be working with Maisie, and they are all wonderful. But the bottom line is that we could be about to find out that Maisie has a terminal illness. I don't know how to even begin to process that information.

Descriptions, reminiscences

Hello, hello

I know I don't post any pictures of myself or Maisie. There's a reason. I know Maisie's father is out there somewhere and I don't want to give him any way to track us down. There is no doubt in my mind that he is dangerous and he is the one who attacked us. But everyone wants to know what Maisie looks like, so I'll give you as descriptive a description as I can.

Maisie is rather small for her age. She weighs 23 pounds and stands 32 inches tall. To give you an idea of how much weight she's lost, at her physical in August for school she weighed 38 pounds. She was wonderfully short and chubby then, but now she's so sick and skinny.

She has dark, loosely curly hair and huge green eyes. Because her skin is very thin she often looks kind of bluish or greenish all the way around.

Does she look sick? Yes. Right now, she does. Oftentimes her limbs are flailing and flopping, or she's curled up in a heap. My little bag o' bones.

I came across a series of pictures of Maisie taken on her second birthday. She's running, tripping, down the stairs and through the hall and, in the last one, standing in front of a heap of presents with a look of such wonder and awe on her face. She looks so big, so strong, it's hard to believe the tiny, frail thing watching Finding Nemo in a stander is the same chubby little girl. I love her so much, fat and healthy or thin and sick, but the change in her these past months is incredible. I think I've been in denial of sorts about my little girl, about how ill she really is. I don't want to believe she could have mito or any other illness. In some ways it was easier to believe that all this that she struggles with is her father's fault. That in and of itself is terrible, but the idea that I could have had a part in giving her the faulty gene causing so much strife is unbearable.

She had a horrible night last night.

She was wailing for hours, she was so hungry.

She wore herself out with her tears and lay on the bed at my feet with tears streaming silently down her face, a look of such desperation and frustration that I cried with her.

She was literally starving but she was too tired to eat.

So she'd fall asleep only to wake up in tears again because her stomach was cramping.

I was alternating trying to give her sips of Pediasure and spoonfuls of mashed sweet potatoes and applesauce.

She would take a bite or a sip and proceed to struggle for ten minutes to get it down. The effort of coordinating her tongue and lips and teeth to chew and then swallow wore her out. The whole process would start over again. A hideous, brutal catch-22. This went on from 6:00 in the evening to almost 1:00 in the morning. That was all she ate that day.

This morning she is a different girl, in her stander with banana slices and cut up waffle. She's eating slowly, but she's eating. Some days, that's a miracle.

Muscle Biopsy Results

Ladies and gentlemen, we have our results!

Actually, we've had them for a while -- I'm sorry this took so long to post. We've had a lot going on -- the biopsy results are just the beginning.

The muscle biopsy that we had done in January indicates that Maisie is in fact suffering from acquired hypotonia. What she is experiencing is apparently very similar to shaken baby syndrome, the name for brain damage that occurs when an infant is shaken violently and their delicate little brain is damaged by bouncing around their skull. Scientists know so little about the human brain that it's hard to be exactly sure what's happening in Maisie's brain, but the working theory is that her brain has been developing ever so slightly wrong, so as it grows and develops the part of her brain in charge of muscle development and strength is becoming more and more convoluted. She continues to have "weak days" where she cannot even sit up without support, and "strong days" where she can at the very least walk and play normally. We are still unsure why her ability is so inconsistent, but the theory we are beginning to test is that her neurons are firing incorrectly half the time. Three times a week she has a half-hour to and hour long Early Intervention physical and occupational therapy session where they work on her joint mobility and alignment as well as strength exercises. On weak days she spends up to an hour (sometimes even more if she's really feeling good) in her stander. She now has two standers, a Leckey Squiggles Stander (below left) which is very supportive and can be either adjusted to either prone or supine, and then of course her Leckey Totstander (below right), which we have adjusted to be a little less supportive for days when she can use her muscles at least a little bit to support herself.

(I know people are going to ask, so I'm going to say right now we have tested her for shaken baby syndrome, and none of her doctors believe that shaken baby syndrome is the root cause here. She has never been left alone with anyone except doctors, myself, my parents, and Jeff, so there has never been a real risk of shaken baby syndrome.)

We are about to recommence rare disease testing, particularly mitochondrial diseases. Mitochondrial disease (mito) affects the body's ability to convert food into energy and, by extension, the muscles' ability to grow and contract, the organs' ability to function. A lot of the various things Maisie struggles with point to mito, and both the RDS and the neurologist believe that it is highly likely that, in the trauma of her birth and first few years of life, a mitochondrial disease was overlooked. On Monday morning we will be taking Maisie to a research center out of state where they will take samples and do testing and hopefully send her home by the end of the week. We have two diseases we are specifically looking for: Leigh Disease or Syndrome and COX deficiency. She has already tested negative for MERRF, NARP, and MNGIE. If we rule out mito, which these last few tests should do, then we will move on to other disease groups.

We have made the decision to pull Maisie from public schooling and will probably begin homeschooling her when we get back from the research center. It is too stressful on her teachers, classmates, and mommy (me) to have her away from home.

And lastly, we may be looking at putting in another feeding tube (she had one as an infant and it was removed when she was about a year and a half old). There are days when Maisie is so weak she cannot eat more than a few spoonfuls of baby food or a few sips of a smoothie. She has lost a lot of weight in the past few months and is in the fourth percentile for her height and weight. She needs more nutrition than she can get when she has weak days. A feeding tube will allow me to administer her seizure medication and food without her expending more energy than she can intake.

I'm sorry this was such a long, serious post! I will try to keep y'all updated as much as possible from now on. Have a great weekend!