Our Brave Sweet Girl

Putting it in black and white seems like it makes it real and true like maybe if I don’t write it out, maybe if I don’t tell anyone, or don’t say it out loud it’s not real, it’s not happening.  Maybe I can rewind and start over and change things, although I don’t even know what I’d change since I wouldn't trade this child for anything in the world, and nothing I did or didn't do caused it or could have prevented it.

I took Olivia to St. Louis on July 18th, for her appointment at Shriner’s Hospital.  We saw several people, had an x-ray, saw a surgeon, occupational therapist, physical therapist…  They did all sorts of strength testing, and stretching and watched how this muscle responded and that muscle reacted.  They asked about other things that she did and didn't do.  Things that I didn't even consider were suddenly starting to become a part of the list of symptoms.  The femoral anteversion, the in-toeing, not being able to put on her own shoes/socks, or put shirts on or off over her head, not being able to carry things and walk or go up a couple of steps, or sit on the floor or a step and stand up, not being able to sit up from lying position... I had witnessed all of those things at home over the course of the last few weeks… then yesterday in the testing they had her hold her hands straight up above her head, she couldn't.  Her elbows bowed out, and they slowly dropped within a few seconds.  She couldn't hold them out straight in front of her at all, her elbows stayed bent (bowed), and her arms dropped. She did a little better with holding them out to the sides.

The more they did, the more the Orthopedic surgeon scratched his head… but he knew… he talked to the others because he knew we weren't looking at something orthopedic.  The orthopedic stuff is a symptom… not the diagnosis.  I cried every time something different fit together… every time he looked at me with his “I’m sorry this is happening” look.  I think he even wished that it could have been something he could have fixed.

In the course of all of this he said a few things that it could be… one thing kept coming back.  They all concurred, and it was decided that she needs a Neurology appointment. 

The first and third Friday are the only time they have Neurologists there.  They bumped some other people to get us an appointment on August 1st.  There did happen to be an intern there who works with kids with the condition that they have in mind and he was called and asked if he could take a look at her.  Of course I said yes, maybe he’d see something they missed and they’d realize they weren't looking in the right direction. 

When he was done, and I asked, he agreed… they’re on the right track…   They drew 6 vials of blood to do all of the blood work between now and then so that the doctors will already have those answers before we are there for the appointment.

Anybody have any guesses??

I never thought in a million years that I’d hear these words… Muscular Dystrophy.    I am still having a tough time wrapping my head around it.  I go from needing to read everything I can to understand, to thinking about what I need to do to make things easier for her here, to the adaptations that we’ll have to make to accommodate her “new” weaknesses now that we know it’s not temporary and can’t be fixed by surgery like we were hoping.  There are practical things like getting rid of the bunk beds and getting new beds for the girls… that’s something that I will do no matter what we find out on the 1st. 

But there are things that we need to just wait and see if this is really what we’re dealing with, an official diagnosis… They gave me some exercises to do with her to help strengthen her “core” or at least keep it where it is now…

From what I have read (on the MDA website so I know it’s reputable), I’m thinking we’re looking at “limb-girdle muscular dystrophy” (LGMD).   Here is what the MDA site says for signs and symptoms:

“Often, people with LGMD first notice a problem when they begin to walk with a “waddling” gait because of weakness of the hip and leg muscles. They may have trouble getting out of chairs, rising from a toilet seat or climbing stairs.

Weakness in the shoulder area may make reaching over the head, holding the arms outstretched or carrying heavy objects difficult. It may become increasingly hard to keep the arms above the head for such activities as combing your hair or arranging things on a high shelf. Some people find it harder to type on a computer or other keyboard and may even have trouble feeding themselves.

Assistive devices, such as a cane or a long-handled reacher, can make things easier as weakness progresses.

A power wheelchair or scooter becomes convenient when weakness in the pelvic girdle and upper legs causes frequent falls. People whose LGMD has reached this stage often find that a great deal of their independence returns, and they’re much less fatigued, when they begin using this type of vehicle.

The heart can be affected in LGMD, but this doesn't occur as often as it does in some other forms of muscular dystrophy. Heart problems can take two forms — weakness of the heart muscle (cardiomyopathy) and abnormal transmission of signals that regulate the heartbeat (conduction abnormalities or arrhythmias). The heart should be monitored for these complications. When necessary, medications or devices (such as pacemakers) can be used to treat them.

Respiratory (breathing) function can decline over time, and this, too, should be monitored regularly. There are devices that can help sustain respiratory function.

LGMD, like other muscular dystrophies, is primarily a disorder of voluntary muscles. These are the muscles you use to move the limbs, neck, trunk and other parts of the body that are under voluntary control.

The involuntary muscles, except for the heart (which is a special type of involuntary muscle), aren't affected in LGMD. Digestion, bowel and bladder functions and sexual function, which are carried out by involuntary muscles, remain normal.

Pain isn't a major part of LGMD, although limited mobility sometimes leads to muscle soreness and aching joints.

Exercises to keep joints limber, moving around as much as possible, warm baths and, if needed, medication can keep this kind of discomfort to a minimum.

The brain, the intellect and the senses are unaffected in LGMD. People with LGMD can think, see, hear and feel sensations as well as those without muscular dystrophy.”

When we got home, I got her a shower chair.  It seems like something small, but to me it was a huge step.  A step that said that my baby needed help with even the "easy" stuff.  She cried when she had to take a shower because standing up for that long hurt her legs.  Now she didn't have to stand.

It took me all weekend to accept what they had said.  I looked online, I read what I could.  I wanted to know that this was something that we could handle.  I cried.  A lot.

Our house is too small.  It's not accessible.  There's only one bathroom.  It's not accessible.  We need a ramp for the back steps.  It's so hard for her to go up and down the steps.

On Monday, I went to see Dr. Mike.  I wanted to tell him what they had told me.  I spoke to his nurse Kelly.  She cried when I cried.  I know they weren't expecting it either.  She promised to fill in Dr. Mike.  I also told her I wasn't happy about the Ortho dropping the ball on the referral.  She said she would take care of that too.

A couple of days later I got a really sweet note in the mail from Kelly and Dr. Mike.  It'll go into Olivia's scrapbook.