My Enigma

I've decided to start a separate blog for Brianna's journey. It has been such a rough 2 1/2 years for our family. She's such a precious light, and I didn't want to bring down our family blog by focusing on the medical "stuff" which gets so overwhelming sometimes.

Our journey with Brianna started just over 2 1/2 years ago. The first sign of a problem was when I went in for my 34 week appointment. The midwife was concerned when I measured 5-6 weeks behind. Previously, I'd been measuring about 1-2 weeks behind, but nothing majorly concerning. She did a fluid check and my fluid levels were fine. The next week I started my bi-weekly NST (non-stress tests) and weekly fluid level checks. They also did the initial growth scan. They would need two (two weeks apart) to see if she was no longer growing. In her initial growth scan she measured at about 30 weeks gestation - we were 35 weeks along. I realize now that I just stopped getting bigger at some point. All of the following pictures were taken around 36 weeks of pregnancy. You should be able to tell which one was Brianna.





We never made it to the next scan, because she was born the next Saturday. Her birth extremely quick, but uneventful (well, I barely made it to labor and delivery, she was born less than 8 minutes after pulling into the parking lot, but there were no medical events to note during her birth). She scored normal on her apgar - 8, and was able to nurse immediately with no apparent problems.

Soon, however, I started noticing...irregularities. She passed one small bowel movement during our 48 hour stay. No one made any note of this (she really should have had at least 2 bowel movements while we were there). And I was concerned that she wasn't really nursing very well. The LC came in and said not to worry, it was normal for babies to be uninterested in nursing the second day because they were so tired. She said that since I had successfully breastfed one child, that I shouldn't have any problems. We went home, she seemed to nurse fine, we changed plenty of wet diapers...but no messy diapers. After 9 days of no diapers, I called the pediatric hotline. I was told it was normal, and nothing to worry about. So I stopped worrying. How I wish I hadn't...

See, all of these were early signs of a problem. Things that really don't seem a big deal to most people, but since Brianna was technically premature, I really feel that there should have been more concern about following her progress. But there wasn't. And so for the next 4 months, nothing happened. Two week appointment, three month appointment, given a clean bill of health. Despite my expressing concern that she seemed a little bit behind (she was a little slow on smiling and cooing and laughing). And of course she didn't hold her head up at all.

Brianna had very poor muscle tone, couldn't hold her head up, yet they didn't express concern. Looking back, I really should have been more aware of her not hitting milestones. But I assumed that she was just behind because she was a preemie, and she would eventually catch up. After all, that's what everyone told me. Watching Liam now, I realize how much I missed with Brianna. I do take responsibility that I just never noticed. She was so quiet, she barely moved, she didn't really observe what was going on around her, and you really had to work hard to get her to smile. You can see in this picture that she made no ability to hold her body. She was only 4 days old, but I realize now most babies make some effort to move their bodies around.


Here she is at two months old, and looking now, I realize how unusual it is for a two month old to just lay there.


And you can see her here doing tummy time at 3 1/2 months old. Not even able to pick up her head. Liam, a month younger (so 2 1/2 months, her adjusted age), was able to roll from tummy to back, and could lift his head up 90 degrees and started to push himself up. Brianna could barely lift her head off the ground for a second.

Around this time we started to realize there was something going on with her head shape. It seemed kind of bulgy in the back, and really flat on the sides. I'd found online that it was common with preemies, but it had to do with laying on their sides in the NICU. Brianna was never in the NICU. So I had a few questions to bring up at her 4 month appointment (which would actually be closer to 5 months, because we were a few weeks behind on her appointments).

Here she is at 4 1/2 months



And here's a picture we took to take note of her head shape



At her five month appointment , we started to get some concern expressed by medical personnel. Her pediatrician expressed concern about her slow growth. At her 3 month appointment she was 9lbs 8oz and 22.5 inches. Which was pretty good considering she was born 4lb 12.5 oz and 17.5 inches and left the hospital at 4lb 9oz. So in her first three months she gained five pounds and grew five inches, which is pretty gosh-darn good. However, from 3 to 5 months she only went up to 10lb 10oz and 23.5 inches. So just over a pound in two months...which is NOT good. The doctor also expressed concern about her physical delays and her muscle tone. And of course, the thing that we took the biggest note of was her head shape, the doctor mentioned craniosynostosis and referred us to the neurosurgeon. From there, things started happening. Nine days later we met with the surgeons, and they scheduled us for surgery five days later.

HERE is a link to the post about her surgery. It occurred on February 3rd.

A month later, on March 11th, we began the quest to figure out what was causing Brianna's delays. At this point I really believed that she was just behind, and that she would catch up. I don't think it really occurred to me that something BIGGER was going on. We met with the developmental pediatrician at this time and it began to sink in.

As the weeks went by, we had more appointments . None really seemed to answer any questions. Including one very frustrating appointment with a pediatrician who claimed that her problems were because she just wasn't getting enough milk from me because I wasn't making enough milk. He told me a metabolic disorder was highly unlikely. Oh how I'd like to see that man again and let him know how wrong he was. You can see by reading the post I linked earlier in this paragraph that I was beginning to see that there was something more going on. Re-reading that post, I see that in the almost two years that have gone by, it really doesn't seem that much has happened to answer my questions, and I'm constantly asking the same things over and over.

In April of 2009 we started to address her feeding issue. I reread my blog entry that detailed how we began her entry into eating solid foods. This is an ongoing challenge for us. She still is only able to mostly handle purees, and the consistency is a very important factor. Just tonight she gagged and threw up on a homemade puree of lamb, rice powder, butternut squash and apple because the texture was too thick. She does try to feed herself certain things, but she tends to mostly just let them dissolve in her mouth before swallowing. She doesn't know how to chew. And she doesn't know how to suck on a sippy cup or straw, except by accident. Which makes the prospect of weaning her off the feeding tube unlikely at this point.

Seizures. I first mentioned seizures in December of 2009. Over a year ago. I mentioned them again and again. We did an EEG, which was an utter fail. I don't see how they expect any child that age to successfully go to sleep in a small, uncomfortable room, and THEN stay asleep while the dude puts a bunch of electrodes all over their head. Does anyone think this out? FAIL. And then they did an EEG while she was sedated for her MRI. Nothing happened - shocking. So that was it, drop the subject, end of story. Except these "episodes" I keep seeing more and more frequently. Brushed off by the neurologist. Finally I get some on video (thank you droid phone) and show the neurologist. Lo and behold, yep, she's having seizures. She's been on the meds for a week and a half. I'll be calling him tomorrow, because I don't see that they're working.

We've had SO many diagnoses thrown about. Cerebral palsy has apparently been ruled out. They're still working through the mitochondrial testing. We traveled to Rainbow Babies in August to have a muscle biopsy taken. She doesn't appear to have an obvious mitochondrial disorder. But certainly SOMETHING is amiss with her muscle/cellular energy cycle. Most tests have come back normal, but there are a few that are slightly high or slightly low, or just barely in the range of normal. It just seems so weird that so many things are slightly off. One of the disorders they're looking into is Pyruvate Dehydrogenase Complex deficiency . The metabolic professional here seems to be leaning in that direction, but reading the report from Rainbow Babies I get the impression that she doesn't seem to quite fit that diagnosis. Which is fine with me, because the prognosis is very poor for children with that disorder. There are a few other disorders being thrown about that I haven't heard one way or another.

So that's where we stand right now, as far as diagnosis. About where we stood a year ago. Big fat question mark. So now, we ask again: where do we go from here?