Monday, April 30, 2012

Baby Food!

Yesterday was homemade baby food day!  I am such a procrastinator I put it off until the last possible moment, until only 1 jar of baby food remained.  My life story... waiting til the last minute to do something important... but hey, I always did work best under pressure.  Here's to encouraging all the oral feeding momma's and medical momma's out there to give this baby food thing a whirl. Start small and gain confidence.  It feels so good knowing you are feeding your child something YOU made.  Even if the rest of the house is upside down, you have other children dangling from the living room fan, a pile of dirty dishes in the sink and your laundry room has runneth over... at least you have tangible evidence that you've done something.  But please, don't over-burden yourselves... heck, if they made real food with a real variety for G-buttons, I might just give it a try, but alas, they don't, so here I am.  So, here goes!

Just cut these babies in half (butternut squash), remove seeds, and roast.  I'm inpatient so I roast everything at 425 degrees.  If you are super woman, you can wash seeds and roast for the other kids, but I am not, so mine found their way into the trash :/.  Scoop out tender flesh once cooked and add water or one of the other foods cooking liquid, blend.

Peel, quarter, and core apples, bake until soft.  Mmmm, my favorite.  Baking gives the food such a deeper flavor, and even though Dominic doesn't taste his food most of the time, he will uses the apples for oral feeding trials.

Admire how cute your baby is, you know the little bogger that you are doing all this work for.

 I use frozen organic broccoli and green beans from Costco... super easy, just steam and blend.  SAVE the cooking liquid, you will need it for your drier foods such as the squash, apples, and pears!

I bake as much together as I can.  Here are the pears quartered and cored and res bell peppers.  They'll all go in the same big pot anyhow!

 I use two big packs of organic spinach from Costco and steam.  I love the dark green water left over... the original "Vitamin Water."
Thanks to my parents, I have a Vitamix, but I used a plain old blender for my first three kids.  Here it is in action with the spinach.

Admire your sweet baby...

And kiss his little toes...

Here is the pears and red bell peppers being blended.  The Vitamix does make easier work of this!

 Pour everything into the biggest pot you have.  I'm a nerd so I love to watch this progress to the top.


 And voila!  You have REAL food, made for a REAL person in about 3-4 hours.  I use canning jars b/c they are glass so you don't have to worry about chemicals from plastic leaching in and because they are cute :).  His new food this go-around is carrots, which is why they are separate.

And here's to one tired momma and one happy baby boy.  Go ahead, drink a Coke.  Nothing like celebrating real, wholesome, homemade food with a non-food product :/.  Hey, you can only do what you can do!

This batch should last about a month.  The mixture includes spinach, broccoli, green beans, red bell pepper, pears, apples, butternut squash with carrots on the side.  He is old enough to start trying meat, so maybe I'll add some chicken next time!

Thursday, April 26, 2012

Genetic Testing

From Dominic's birth his neurologist has thought Dominic had a genetic condition called Smith-Lemli-Opitz syndrome, but his cholesterol levels have always been pretty normal (or averaged out to normal: 2 high, 3 normal, 2 low), which would not happen with this disorder.  This syndrome effects the last step in the body's process of making cholesterol which is vital to normally functioning life.  It's funny how we all hear the word "cholesterol" and automatically think "heart attack!" but in reality it is very important in our bodies... the good kind, not the McDonald's kind.  Without the proper levels of cholesterol, the nerves are not able to maintain their myelin sheath.  Cholesterol also is a precursor to Vitamin D.

Anyway, this doctor has always highly suspected this and despite the metabolic geneticist and geneticist saying he doesn't have this condition because of his mostly normal cholesterol levels, the neurologist ordered a genetic test anyway (I love him).  This is where it's a bit confusing.  The test came back negative, but there were 7 mutations on the gene that carries this syndrome.  The neurologist says that the 7 mutations are very unlikely to occur on the same gene.  Maybe 1 mutation, but not 7, thus he is still convinced Dominic has some form of this condition.  He is ordering a full genome panel, even of the genes not yet mapped in science, to see all mutations in his DNA and try to make a diagnosis.  He warned me that this full panel will most likely show multiple mutations and can lead us on a wild goose chase if we let it (by pursuing every little mutation we find), but if we have a big picture, it may allow us to make a positive diagnosis.

A diagnosis is so important in this case because we can use cholesterol supplementation to try to replace the cholesterol the body is not making.  Do you know that test they do to every newborn shortly after birth where they prick their heel and collect the blood on a piece of paper with 5 dots?  That test is looking for a disorder called PKU, which is a very serious metabolic disorder that if not found early can lead to mental retardation and seizures.  PKU is the first cousin if you will of this disorder.  If this syndrome is caught early, cholesterol supplementation can help lessen the severity of some of the symptoms later in life, such as the autistic and behavioral tendencies, but unfortunately it can not be managed well enough for the child to be "normal."  We have started on a an egg yolk a day regimen anyway, just in case the test is positive.

It is estimated that 1 in 20,000 to 60,000 babies conceived have this disorder, but it is hard to say since most are miscarried or stillborn, and now with the advent of the screening test, are aborted.

So, in a few days we will be admitted to the hospital for a 24 hour EEG to check for seizure activity and then Dominic will have the blood test for the full genome work up.  It's funny, in college my favorite subject was genetics.  I loved it so much I took extra genetics classes to forgo my requirement for a foreign language (yes, I'm a nerd).  I even considered becoming a genetic counselor but decided not to when I found out that some of that counseling included giving the parents the choice of killing their less-than-perfect child.  Is an imperfect life not worth living?  It seems to me that these are the lives that point us to our ultimate destination.  These people make us uncomfortable because they force us to think.  Think about the hard questions: why?  what is the purpose of this life if not to be productive?  what is a life worth?  They pop our little bubble of normalcy and force us to stare death in the eyes.  Or perhaps I should say they force us to stare God in the eyes.

All this I am struggling with.  Please keep us in your prayers.

In Jesus and Mary,


Tuesday, April 10, 2012

He's got a good angel

I must start out by apologizing to you all first... if I had any sense in me I would have written this a week ago, but alas, I didn't.  Last week was an eventful one for us at the Short household.  Tuesday morning I woke up at 5 am with kids in our bed so I decided to bring them back to their bed.  After I did this I went in to check on Dominic.  He was sleeping soundly in the nurses arms when not even 10 seconds later the vent broke.  Go ahead, re-read that last sentence.  The vent broke.  It started making an awful wheezing and squealing sound and a panicked alarm with a "HW malfunction" message flashing.  Quickly I grabbed the ambu bag and had the nurse start bagging him while I changed the circuit (tubes that lead from the vent to Dominic).  I had never seen this alarm before so I had no idea what was going on.  When this didn't work I ran into Mike and my room and grabbed him.  The nurse was still bagging Dominic while we were trying to figure out what went wrong.  I called our home health company's on-call respiratory therapist who said she would go by the office, pick up a vent, and bring it right over.  We turned the alarming vent off and just decided to bag him while we waited.  We have a back up vent but I had never practiced with it so I though bagging him would be just as good as going through the trouble to hook him up to the back up.

During the two hours we were waiting for the new vent to arrive, Mike and I sat in Dominic's room, sipping coffee and having a good little date.  We laughed how funny it was to us that we thought this forced time together could count as a date, but it was nice.  After the new vent arrived and we got it up and going we put Dominic on and all was well.  He had done beautifully during those two hours and even helped me bag him for a while :).

Fast forward a few hours.  Our date was over and the nurse and I brought Dominic to his regularly scheduled pulmonology appointment.  It's funny because before we left Mike asked me several times if I wanted him to go (which he normally doesn't do) but I declined saying there would be too many of us in a cramped little doctor's office.  I thought it was just because we didn't want our date to end, but maybe he had a feeling something was going to go wrong.  After the doctor came in and saw Dominic, as soon as she left the room actually, he went into respiratory distress.  His blood pressure plummeted, his heart rate went up to 220 (normally 130) and his O2 saturation went down.  He was pale, mottled, and sickly looking.  I called a nurse in, we started monitoring him, gave him a breathing treatment and cranked his oxygen up.  The doctor came in and immediately called a med alert, summoning a whole crew of people to his room.  She said she didn't feel comfortable sending us home, so she admitted him to the pediatric ICU.  That first day was bad.  He started having high fever, his heart rate too was high and we couldn't bring it down and he just felt terrible.  This is the happiest baby in the world, and he was just laying there crying.  Poor baby.

We were in the ICU for 5 days and since Mike was sick, he was unable to come up but 2 times for a short visit with a mask on.  He manned the house and with my family took care of the other kids while I stayed up there and slept there.  Dominic started to look better the 2nd and 3rd days and by the 4th day was looking like himself again.  We had to monitor him for one more day and we were cleared to go home.  Now he is back to his normal self again, smiley and spunky (when we can manage to wake him up!).  Man, normal life is so sweet after you go into survival mode from having the family split up for a hospitalization.

starting to feel better, but still a little sad

"Don't worry mom, I've got this!"

The doctor said that maybe he had a little virus (he had been having symptoms for a few days prior to this) that weakened his immune system enough to allow a bacteria to colonize his trach site.  The bagging may have been what threw him over the edge.  He is finishing a course of antibiotics now and hopefully we can get that nasty bacteria away from the trach!

We are well aware and humbled that our Guardian Angel's were watching over us.  There is no reason that I happen to wake up at that time and no reason I should have been in Dominic's room at the exact moment the vent broke.  There is no reason we were already at the hospital in the pulmonologists office when he crashed.  No reason except for the protection of God through His angels.  It is so strange that He choose us.

He loves being sang to

4 Friars and a baby :)

Now you see why he is so spoiled

It's hard to feel sorry for him, huh?
And I didn't get a picture of this, but sure wish I had... Dominic pooped on my sisters leg.  Is that TMI?  Sorry if so, I thought it was hilarious!  You can create a mental picture now...