Wednesday, November 27, 2013

Something Big.

Quoting one of my favorite movies, Wayne's World, "What I'd really like to do is something extraordinary. Something big. Something mega. Something copious. Something capacious. Something cajunda!"

I'm not sure if this is it, but it's something at least.

I created a facebook page for Martha. It's called "The Life Transparent."

You can follow this link and "like" it. You don't even have to be my friend in real life, or my friend on the internet (I have lot of  "friends from the internet"). So, no stress, no worries, no creepy hot-mess-mommy-stalker-blogger.

Maybe I'll blog here, or maybe I won't. I'm decisive like that, and not nearly this sarcastic in real life, which is a pity for my "friends on the internet."

Happy Thanksgiving, everyone! Our family will be attending Mass in the morning, cooking up some sweet candied sweet potatoes, and spending the rest of the day with our family.

Today I made a Bailey's Mousse pie, which I hope will set (it was pretty jiggly), and my famous culinary specialty, Ritz crackers filled with peanut butter and coated in almond bark. I'm practically the next Julia Child with these knockouts.

The wine is calling....


Wednesday, November 13, 2013

Accomplishments and Outings.

You know the creative juices just aren't flowing when your blog posts are only a recap, or a reminder of everything you have going on. Phew! Bear with me.

On Monday Martha had a Cranio-Cap appointment, which also included Cranio-Cap graduation. Hooray! I have a box of cupcakes to make to celebrate the accomplishment, but life has not allowed baking from a box yet this week. Graduating from the Cranio-Cap means so much to me. You see, it is the FIRST thing we started, and then finished with Martha. It had an end. The first and only thing we've done to this point that I can say that about. There are a few other things I pray that she can graduate from, but for now, the Cranio-Cap is a big accomplishment.

I'm very much looking forward to seeing her dark, curly hair grow.

Remember Paul's curls? Oh my goodness, swoon!

(This is Paul when he's about 16 months)

On Monday afternoon I brought Martha to the doctor. She has had a respiratory infection for about three weeks now, which we were managing at home, and is more or less typical even though it is very tiring. But there was something else "off" too. She was in serious pain, and I couldn't get her to sleep or to stop crying...for the whole day. She had had a low fever for days, but my mind was trying to think of what logically could be going on. The last time I couldn't get her to stop crying, she ended up in an ambulance, so I was worried. Anyway, she has her first ear infection, and is now being treated and will hopefully get the respiratory junk taken care of along with it.

On Tuesday I took Paul and Michael to Mass, which is like... a little bit of a disaster. I always need an outfit and new deodorant after daily Mass on my own with the kids. Wow, they keep me in a sweat while I'm trying to hush them and keep eyes stares at a minimum.

Wednesday (that's today), I had another great outing with the boys, except this time was the library story hour. No sweating involved here. The boys got out of the house for something other than Mass or the grocery store. Check for me.

Thursday is Early Intervention therapy. More on this later. The therapists come to the house. It's a circus in here.

Friday is MORE therapy, except this time we leave the house B&E and drive 40 minutes to a private therapy business. The purpose of this visit is to have Martha fitted for hand splints to de-rotate her hands. They will look something like this.

This will be the second orthosis she receives (the helmet being the first). The splint should help her play, and reach for objects and toys. Mark says it the best when he says that her arms were put on backwards ;-) .

This picture was just taken of her on Monday, and it gives an idea of her natural hand position. When she is reaching for something, they rotate worse. I hope these splints aren't too invasive and can train Martha's muscles to move more correctly.
On a pleasant note, Martha's rosy, high cheek bones remind me of my family of origin. I know she will look a little different because of her syndrome, but lately I have seen a resemblance in her face that reminds me that she is here with me...that I am part of her. It is a small sort of comfort.

I know I'm missing something...or a few things, but I'm wrapping it up for now while I contemplate a Diet Coke.

Saturday, November 9, 2013


I think the biggest challenge in caring for a child with a rare syndrome is the lack of information available. In the age of technology, where you can learn anything about everything with a google search, having no search results becomes isolating.

In addition, the scope of a syndrome can be so great, that you feel like you must become an expert on everything in order to fully understand what is happening. This is where I am at with my daughter. I have a working knowledge of her gastric system, food pump, and swallowing disorder. I understand the way her brain differs from mine, and to a certain extent, how it will impact her development. Cardiology doesn't hold my natural interest, so I'm happy that all I need to know is that Martha will likely not need heart valve surgery as a child.

Beyond that, things get more complicated. After Martha was diagnosed last March, on the drive home I told Mark, "You know, I wished I would have just become a doctor." I had a fleeting thought about doing just that during college, thinking I had the drive to work hard enough to do it.

No, I realize, if I want the answers to the questions I'm seeking, I would have needed to be so much more than just a doctor. I would need to be a geneticist, and neurologist, a nutritionist, hepatologist, physical, occupational, and speech therapist, with a radiologist thrown in for fun so I can switch out my own GJ tubes.

Martha may be the only one out there like her, but I'm certain that I'm not the first mother to walk this trail. Still, I am a member of these support groups that absolutely drive me bonkers. I recently asked a support group if there was any information available on atypical development. There must be a resource out there that lays out the implications for missing certain skills, the importance of other skills, and how their delay or absence impacts the realm of lifelong development. Someone out their MUST know that information, or we wouldn't be doing all of this work trying to get Martha to "midline."

Instead of information from the support group, I get answers like, "Timmy rolled at 11 months, and stood at 24 months," explaining what each other's child did at what times. Or, "Janie walked around two, you just need to be patient," and the super ambiguous, "Each of our children are so unique, they all do things at a different pace."


Then, there is the more serious side of things that are hiding in the corner. I feel like we're in a big lottery pool, and our name might be drawn on some prizes, and missed on others. Martha didn't draw the ticket for a cleft palate, and her heart ticket wasn't the jackpot, either. If her feeding and swallowing dysfunction were a lottery ticket, she'd win the powerball. But there are still tickets out there for epilepsy, mitochondrial disease, different dystrophies and degenerative muscle and neurological diseases. I keep looking at the way Martha's arms and legs are moving and wonder how many years she can get by without surgery.

But they all keep me in the dark. Because her doctors don't know when or if Martha will develop any of it. They can't rule any of it out, so they watch her closely. I ask about surgery, and they say, "We'll try to avoid it." It's then that my knowledge and education fail me. They know what's out there, what to look for, the tests to run, and when to run them. I don't. They know the implications for a child who will only use one side of her body at a time, and I don't. But in the midst of these specialties are giant, gaping holes where I'm not confident that a specialist will see the big picture, trapped in their pathology.

Several months ago a doctor remarked that maybe there was a place for me in the middle of this discovery, a way to trail blaze this condition that has only, and likely will ever only affect one person. My daughter. I can't tell you how much I wish that role had already been taken by someone else before me.

I want to read the book, not write the book.

Until the next things pops up...

Monday, November 4, 2013

The Plan.

Tomorrow Martha is going to get a new GJ Mic.Key button. The procedure is scheduled in the morning at the St. Paul Children's hospital.

This works out well for us because later that day Martha has a second appointment with a pediatric ENT to hopefully diagnose a possible mouth birth defect and/or cyst-like tissue in her mouth.

In the meantime, Martha's J-port of her tube is completely blocked, and we are running her pump through her gastric port at a much lower rate to keep her nourished and hydrated at a less than optimal level. When liquid is put directly into her stomach, it causes added secretions/mucus, which especially on top of a respiratory infection, are difficult for her to manage. She's doing very well with it thus far, but it will be very nice to get her new button and her pump running full speed again.

Martha has another appointment on Wednesday (a bit more local--only 30 minutes away), that has a tendency to take HOURS. But, this specialty is incredible, and really, REALLY understands Martha and the way she moves, her tone, her strengths and weaknesses. I have a feeling that as soon as Martha loses her Cranio-Cap that this specialty will be bracing her arms and legs. More on that later.

Add all of that to occupational therapy, physical therapy, a Cranio-cap adjustment, an order to medical supplies for bags, syringes, and extension sets, plus a cortical vision assessment, and hearing test to schedule, and there you have our week in a nutshell.

I'm on my second cup of coffee and have a meal plan for the week ready to go.

Just breathe.