Sunday, April 24, 2016

Splat

I took a fall. I went all unconscious for a tiny bit. I'm very sore, but I'm okay.

I've been doing a TON on yard work. We've had several dead trees cut down, most by My Firefighter, but the power company took down two dead pine trees that were a hundred feet tall near several power lines under the condition that they'd leave the wood instead of remove it, meaning, I'd do the removal. During the past three weeks, I borrowed my neighbor's trailer and loaded it twice with the help of my girls and then he hauled it to the green waste dump. It's grueling, exhausting work! Last Thursday and Friday, I had the trailer again and My Firefighter was able to come help. We were tired after the first day, so headed into Friday already tired. After the trailer was nearly full, with three more newly fallen trees on top of all the pine, I climbed up to jump on the stack to mash it down. I reached for a branch to pull it into a better position and it broke. I lost my balance and over the side I went - about a 6 or 7 foot fall.

I landed on my right side with my right arm under my ribs, but I didn't hit my head. My own arm gave me a "Heimlich Maneuver" and knocked the wind out of me. The last thing I remember is being in the air a really long time then not having any breath at all and trying to tell My Firefighter that I fell, but I couldn't get the words out.

The next thing I know, I'm waking up from what felt like a refreshing sleep and feeling quite fine. However, the look on My Firefighter's face wasn't fine. He'd called 911 because I lost consciousness so fast and did something with my arms that looked like posturing to him, a sign of brain trauma and he wasn't sure if I'd start having a seizure or something next. When I came to, though, he cancelled the call. I said I felt fine, but as I started moving around and over the next 20 minutes or so, I realized I was injured and felt strange. My arm was bruised up and my back wrenched and ribs very, very sore.

I didn't realize that falling from 6-7 feet could do that much damage. After all, it's just a little over one of my own body lengths. Now, my neck hurts, too. It started seizing up yesterday and today I have a major headache. I know I didn't hit my head or neck, it's just my body reacting to the jolt of a sudden stop against the hard ground and branches I landed on.

We don't know why I passed out so quickly other than the fact that I have very low blood pressure naturally so an abrupt change in blood pressure from the impact with a loss of air from knocking the wind out of myself so completely can cause psychogenic shock.

We stayed at My Firefigher's house Friday night and all day yesterday so he could watch me for signs of further injury and help with the girls. I've laid around today, feeling pretty miserable. Tomorrow, I hope to start feeling better.

Monday, April 4, 2016

Another Diagnosis

I've started this post many times, deleted some, then all of it. There's no easy way to do it. On top of all her physical special needs, Jie Jie has an ENTIRE PAGE of genetic "changes." This is extremely rare, nearly unheard of.

A little about genetics from KidsHealth.org...
"A person can have changes (or mutations) in a gene that can cause many issues for them. Sometimes changes cause little differences, like hair color. Other changes in genes can cause health problems.

Mutations in a gene usually end up causing that particular gene copy to not do its job the way it normally should. Since we have two copies of every gene, typically there's still a "normal" working copy of the gene. In these cases, usually nothing out of the ordinary happens since the body can still do the jobs it needs to do. This is an example of an autosomal recessive trait.

For someone to have a recessive disease or characteristic, the person must have a gene mutation in both copies of the gene pair, causing the body to not have working copies of that particular gene.

Genes can be either dominant or recessive. Dominant genes show their effect even if there is just one mutation in one copy of that gene pair; the one mutation "dominates" the normal back-up copy of the gene, and the characteristic shows itself."

Of the entire list of gene changes that Jie Jie has, about half are autosomal recessive, meaning she doesn't have the syndrome.

That brings us to the top half of the list of changes. Essentially, the top three changes cause conditions that have over-lapping traits, but one really matches her and it's autosomal dominant. It causes moderate to severe intellectual disability and expressive and receptive language impairment and about a dozen other things that Jie Jie has, as well as a few that she doesn't have (such as dysmorphic facial features). This condition is extremely rare, but well-known in genetic circles.

So, the big question is, "What does this mean for Jie Jie?" It means that there is a reason why she keeps falling further and further behind her same-age peers. There's a reason why she struggles with speech and auditory processing. There's a reason why she can't make sense of days and weeks and months and time and the relationship between numbers and why she can't learn what odd and even numbers are. It also explains why her short-term memory has a few glitches and the problems that brings. And so very much more. Her severe physical disabilities complicate things further because she doesn't have the intellectual ability to care for her needs and make medical decisions for herself.

As of right now, it's believed that Jie Jie's physical disabilities are separate from her genetic disabilities, however, in a few years, scientists may have made discoveries that connect them.

On the positive side, she is still making progress in many areas and no one knows what her potential is. She is creative, caring, curious and joyful.

There's so much more to this than I can share. It's a very hard road. I'm still trying to wrap my head around it.