Sunday, December 7, 2014

Kidisms and a Christmas Craft



My children are often a source of amusement for me.  Margaret is particularly funny because of how she interprets things. A few examples are...
Croutons she calls toast bites,
A comb has teeth and therefore bites the knots in her hair when I comb it,
and her stuffed animals become real things that need help, care and comfort.

Margaret lines up her Hello Kitties and tells me they are having a party....LOL! 



Joseph complains to me his Spiderman WON'T stop working! ROFL. We told him, "Then stop pressing the buttons!"


James came over and asked use my bathroom to go poop since John had just cleaned the hall bathroom. When we asked him why he said he did not want to mess up the toilet. LOL. At least he was trying to be courteous!

James went into my bathroom today because someone was in the hall bathroom.  He comes back out and exclaimed in a puzzled voice, "Your bathroom smells like pickles!"  LOL   Little did he know I had sprayed my bathroom down earlier with white vinegar to combat the hard water stains in my shower.  ROFL

Then Margaret grabs Spiderman and uses him to save Hello Kitty. At least she is flexible in her play! LOL


Today we did our weekend craft.  It was fun!  We did Ribbon Paper Trees.  I cut out some tree forms from cardboard.  It would have been too hard for the children to do that.  They all have poor hand strength.  MY hand was hurting after a bit.  I couldn't have imagined them doing it!  I had to enlist John to help me cut out tree forms.

We had some scrapbook paper all ready on hand.  I picked out come color coordinating paper in mostly green and blues.  John used a paint stick, since we had on hand, as a straight edge to draw lines across the scrapbook paper.  I initially thought the kids could cut the paper into strips but that proved to be too hard.  James was able to cut half a sheet before he was complaining his hand was hurting.  No problem, John and I cut the paper into strips.

All the different colored strips of paper were placed in separate piles.  I poured a thin layer of glue on the cardboard tree form and then asked the children what colors/order they wanted the paper strips.  I placed them on the form.  That part of the craft went quick and it made the children happy.  Any paper hanging off the sides of the form I trimmed off with scissors as soon as the glue had set some.  I think these came out quite cute.  Some of the trees have tree trunks.  I'm not sure which way I like better.  Picture of the finished craft is above.  Give it a try!  : )

Sunday, November 30, 2014

Hand Print Reindeer Craft: Fun Use for Toilet Paper Rolls!


I love Christmas time with the children.  Since they are homeschooled they still believe in Santa.  Besides Christmas the month of December is also the children's birthday.  So I want to fill the month of December with all the fun I can!  Today they children were so good!  They helped me clean the house and do laundry with little complaint.  Since they were so good I wanted to do some sort of craft with them.


I found the picture of my craft project from Pinterest.  It looked like fun and fairly simple.  We started with toilet paper rolls.  I also found some Trader Joe's shopping bags, black card stock paper, silver pen, and some oil pastels.  We also needed scissors and glue.


  • First we took the toilet paper rolls and I decided to cover them.  You could have pointed them or left them alone.  I cut one paper bag up and glued the print side of the bag to the cylinder.  This left me a  nice blank side to work with for decoration.  You can see on Margaret's reindeer I put the paper on backwards.  Whoops!  Mom had applied glue to the wrong side!
  • After we let the glue dry for a bit we took the oil pastels and drew on the eyes and nose.  I let the children pick the eye color.  Some of the colors were too light to see so I went back in and darkened in some of the eyes.  You could use small bits of paper or whatever you have handy. 
  • Next I sat with each child and traced each of their hands onto the black card stock paper.  Then I cut the hand prints out.  Since the children have poor fine motor skills  and the paper was a heavier weight I knew they would struggle.  I didn't want craft time to turn into a frustrating experience so I cut the shapes out but I left time for each of the children to practice on what was left of the paper bag.  
  • Finally I took the handprints and arranged them in a way so they resembled antlers.  I'm sure there are at least a dozen ways to attach the antlers to the reindeer but I used tape.  It seemed to be the easiest way to go about it.  
As an after though I had an idea to seal off the bottom of the toilet paper roll so I could have filled it with some dry beans or rice.  This would have been nice to help weigh things down since the antlers can topple the reindeer over. Next time I will know!
Now maybe you can make your own reindeer!  Have fun!

Thursday, November 27, 2014

Happy Thanksgiving!

joscountryjunction.com
Good morning and Happy Thanksgiving!  It has been a rough couple of months financially because I have been squeezing our budget to the limit.  I have been trying to purchase presents for the children's upcoming birthday and Christmas. It's a lot to cover!  We don't have everything we want in the house for Thanksgiving but we have more than enough!  Especially with a turkey given to us by a kind friend. The turkey is 21 pounds!  It's HUGE!

We had sausage balls for breakfast.  It's a Thanksgiving tradition in our family.  I LOVE sausage balls and we did not have any Bisquick.  We did have flour and other things in the house (I try hard to keep basics handy).   I found a Bisquick cheat recipe online.  So I made the Bisquick from scratch and I have to say I was impressed with recipe.  I did make a modification from the original I found online which was to cut the amount of shortening down and use some butter instead.  Using the butter made for a MUCH better final product!  I made a new recipes page.  You can find the recipe for the DIY Bisquick along with the recipe for Sausage Balls.

We had a great breakfast of hot sausage balls with sharp cheddar.  John got the turkey into the oven and things were going well.  I had taken the wrap off Joseph's should for a bit so his skin could breathe.  I told him he could use his arm lightly but if ANYTHING started to hurt then he was to let me know.  He said okay and went off.  For a little while he was fine.  I saw him heading to the playroom out of the corner of my eye and then the next thing I know I hear him crying and sitting on the floor. He was crying pretty hard!

He said his shoulder hurt and I took him back to my bathroom.  I stripped his shirt off and I could see the swelling at his shoulder.  Sigh, I think he re-broke his clavicle.  I called his doctor and had a talk with the nurse on-call.  She agreed with me that there was not much we would gain by going to the hospital again.  She said it would be riskier to go to the hospital because of the high chance of catching some respiratory disease so we should stay home. We were instructed to call the doctor's office the next day and see about getting an appointment.

First I gave Joseph a dose of his pain medication.  I got him to the shower to relax his muscles and to clean his body. He was feeling MUCH better after we got out of the shower!  The look on his face was quite different after the pain meds kicked in!

So we finished up our preparations for Thanksgiving dinner.  Dinner itself was delicious! The turkey was beautiful!  John brought the turkey to the table all ready sliced for serving.  This made serving the children much easier!  Joseph was in heaven.  This is his kind of food!  It is soft and requires minimal chewing. LOL  The children basically ate until they were ready to pop except James.  For some reason he did not eat much but he was happy to have a piece of cake at the end of dinner. We had, overall, a really nice Thanksgiving.  I hope you did too!



Thursday, November 20, 2014

Barfing and Broken Bones

This is Joseph's sad face. If he is looking
at you like this then he is either faking
or he is in SERIOUS PAIN!
Catchy title isn't it?  LOL  Be glad you have not been in my house the last 48 hours! Yesterday all the strength and time I had to post went into yesterday's post on No Shave November.  So you can tell I wasn't up for much!  LOL

After spending some time outside on the back porch with my husband I hear what I first thought was a cat howling in the distance.  John said he thought it was one of the children and went inside to check it out. He came back out a bit later to tell me that James had barfed all over his bed.  He cleaned out the bed and changed James's clothes.

We went into the house for the evening and went to bed.  A few hours later Margaret was screaming.  She had also barfed in her bed. So she was cleaned up and sent back to bed.  Joseph did not want to sleep by himself at that time so he came into my bed.  We all went back to sleep.   I woke late the next morning to head to work.  I had no idea what was going to happen next.

John had made breakfast.  It was delicious. Right as I was finishing up and thinking about running out the door Joseph falls out of his chair and on to the tile floor.  He smacked his left should and the left side of his head on the tile.  My poor baby was crying.  I picked him off the floor.  Daddy takes a look at him and asks where he hurts.  Even though I felt a HUGE (half dollar sized) goose egg on the back of his head that was not where he complained he was hurting.  He said his left should hurt.

This concerned me since this was the same side that he broke when he was two.  I swear I was gone for THREE minutes at best! I had to go to the bathroom.  The children were busy watching PBS so I thought I could make a run to the bathroom.  It is about the only time I have to myself...IF I'm lucky!  While finishing up in the bathroom I hear a LOUD thud and a sharp cry out of pain.  I rush out of the bathroom and into the living room to see all the children calmly laying in the floor watching TV.  I had NO idea what happened but I figured it could not have been too serious or I would have seen someone crying.

That night, when Joseph went to bed, he whined and and could not get comfortable on his left side.  I thought it was strange but then thought nothing more of it. The next morning we got up and he went to physical therapy.  Even the physical therapist thought he was only "off" and seemed to be whining a bit that day.  She had NO idea either!

I took Joseph home from PT and pulled off his fuzzy PJ jumper (he had been in for the last 24 hours; since I heard the fall) to see a HUGE bruise on his left upper chest by his clavicle.  I was HORRIFIED! I carefully bathed him and got him ready to head to a pediatric urgent care.  We got there and where immediately seen.  They took x-rays. He had a MAJOR break!  The doctor said a grown man would have been in tears if he had to crawl around on a broken clavicle like Joseph did.  She was AMAZED at his pain tolerance!  She gave us a script for narcotic pain medicine for him.

Now fast forward to my experience at the local children's hospital.  I took Joseph in and we had to wait in the the waiting room for about 75 minutes after being triaged.  I saw the other people come in after us.  They basically all had respiratory illnesses. I was worried we would pick that up while we were there.  I made sure we limited the amount of contact we had with surfaces and then used lots of hand sanitizer!

We made it back to the room.  The nurse and then the doctor made Joseph move his arm in various positions and watched his reaction.  At best he winced when he moved his arm.  The doctor and nurse were convinced that Joseph was not seriously injured.  I explained to them that Joseph had a high pain tolerance and they were not convinced. I'm not even sure they were going to send us for x-rays until I mentioned Joseph had broken his clavicle before and crawled on it without crying.

So we get sent back for x-rays.  They take FIVE films!  I had not seen so may taken before.  I had a feeling it was broken.  We head back to our room and sit in there for another hour waiting for the doctor to come in. Instead the doctor from the floor comes and and says Joseph's clavicle is broken. I told that doctor I had said it (the clavicle) would be broken to the first doctor that was treating us.  He quickly left the room.  Not ONCE did ANYONE offer to give Joseph pain medicine!

The first doctor came into the room and asked if I had heard the news.  I said yes, that the bone was broken.  I also pointed out I said I was worried it his clavicle was broken earlier and he needed to make a note in his chart about Joseph's VERY high pain tolerance.  He just looked at me.  I mentioned that I have told other doctors of Joseph's high pain tolerance before and they do not believe me because I am "just" the mom. So it would be nice to have documented proof.

Joseph all splinted up.
He rushes out the room as he mentions a tech will be in to help splint Joseph's arm. After some wrangling and me having to convince the tech to use the smallest sling and bandages available we got Joseph taken care of! I wanted to see the x-ray so I could see if the break happened at the site of the old break or it was somewhere new.  Plus I wanted to see the severity of the break.  His last clavicle break was very severe.  It did not help that he was crawling on it last time.  So I asked the nurse to see the x-rays.

Then something VERY interesting happened at Phoenix Children's.  I was told by the nurse I could not see the x-rays because of patient privacy. I said I wanted to see it and I wanted to take a pic of the x-ray on my phone on the light board in our room.  This way I could show his doctor a picture of the x-ray since I knew the records would not be ready for several days.  The head nurse was citing patient privacy too. Really? Um, no!  I am his mother, he is a minor so there is no patient privacy. If I am looking at the x-ray in our room then we are in a private setting.  This was a LOT of BS but I didn't want to fight about it.  From my earlier post on complex medical kids the first rule of hospital visits is to get back out the door as quick as possible!  I already had to ask twice for a copy of the Patient Rights pamphlet.  Now I just wanted to leave.

Out the door we went with the only medical advice given was to immobilize Joseph's arm to his side for the next three to four weeks and give him some over-the-counter motrin for the pain. Poor Joseph was hurting that night.  The next day I called his regular doctor for some pain medication.  She did not want to prescribe it (it has gotten RIDICULOUS in trying to get pain meds from ANY doctor, EVER, for ANY reason!) but in the end I won.  We got three whole days worth of Tylenol with codeine for him.  We are giving it to him only at night so he can sleep more comfortably.  He loves to sleep on his side so it pains him to sleep in the position he is most comfortable.  Now he can finally rest easy!

The good news in the story... We should be able to stop splinting his arm just in time for his birthday.  This is good because I ordered a bouncy house for their birthday!  Hopefully we will have NO more accidents!!!






Wednesday, November 19, 2014

No Shave November

So this is what happened when my husband announced he had been participating in No Shave November...

Monday, November 17, 2014

World Prematurity Day 2014


Today is world prematurity day.  Having quadruplets born 13 weeks premature, I am well aware of the trials, hardships and heartbreaks that can come from prematurity.  Being pregnant with quadruplets, I knew there was a high risk of having the children prematurely.  When I found out I was pregnant with quadruplets, my fetal maternal specialist (like an OB/GYN) pressured us HARD to undergo a "selective reduction."  I left that appointment in tears.

When I initially started the follicle stimulating drugs, my husband and I knew there was a risk of multiples.  We were reassured over and over again that between my age and PCOS there was little chance I would have triplets of more (7% chance or less) and the odds of quadruplets of more was even less (3% chance or less).  When we went in for the IUI, we were excited.  When I got my positive on a pregnancy tested, I was shocked!  Not only had the first round of IUI worked (I had on RE tell me he was doubtful IVF would work for me and even if it did, he doubted I would stay pregnant since I was obese and had other health issues) but John and I had been SO sick with something like a severe week long stomach flu virus.  We were so desperately ill at the time!

I watched as the beta numbers went up.  Thirteen days past IUI, my beta was 194 and 15 days past it was 374.  I looked on BetaBase and my beta times were lining up with twins.  I was SO happy!  The idea of twins was exciting.  I felt confident I could carry the pregnancy.  It was only a couple of weeks later we went back into the RE's office that did the IUI and found not 1, not 2 but THREE sacs that look like it would develop into a baby.  We saw seven sacs in all!  My husband and I were FLOORED!  The RE office said not to worry since it was super early.  "It is not uncommon to lose one or more of the babies at this early stage," the nurses said to pacify us. The nurses went on to explain most people do not even know they are pregnant at his early (6 week-ish) stage, so if they lose a baby they would not even notice. Those words just slid off my brain as I was still in awe I could be pregnant with up to seven babies!

Another two weeks had to pass before we could do another ultrasound. We arrived and went in for our last visit to the RE before moving over to see the fetal maternal specialist.  All ultrasounds are done transvaginally and there is only so much that can be seen at that angle when the uterus is crowded with a bunch of growing eggs. At this ultrasound we could see three little babies line up in a row from the top to the bottom of the uterus. Each baby showed one tiny pixel flicking.  It was a tiny heat beating in each little body.  It was love at first flicker!

You can see the babies lined up in a row.

At 12 weeks my husband and I arrived at a very respected fetal maternal specialist for bloodwork and an ultrasound to see if anything had changed since our last unexpected finding of three little babies.  We went into that ultrasound first with a tech.  She said she was going to look at each baby and I said that was fine.  She started to run the ultrasound transabdominally.  She ran the ultrasound wand one slow pass counting softly to herself. I could hear her say one, two, three, and then silence as she stared at another baby.  I might be pregnant, but the kids had not sapped me of my brains yet!  I caught that too.  Then she made another pass.  I counted too and counted to four before I stopped seeing tiny little bodies. I was stunned as much as the tech.  She told me she needed to go and get the doctor.  She would be back in a minute.  John was sitting next to me watching the large TV screen of the ultrasound machine.  I turned to look at him and asked on simple question... Did you just see what I did?  He paused for only a moment before replying... You saw four, right?  Yes...I said in a stunned voice.  Then came in the doctor.  She barreled in full force to confirm that we were not expect one, two, or three babies but FOUR!  As John and I were just trying to digest that information, the doctor barreled in with such callous disregard that we were in shock about the need to undergo selective reduction.



You can call it selective reduction, but I call it what it is... murder of one of our children.  As strange as it sounds, I support abortion as an option women should have, but I also adamantly disagree with calling a six week mass of tissue is not a baby.  I don't buy it!  If you allow the "mass of tissue" to grow, it will become a baby.  I left that doctor appointment in tears and I don't think John was in any better shape.  We stopped at the closet place we could find to sit, think and eat... Sizzler.  We went in and got the buffet.  We each did not discuss anything.  We ordered, got out plates, got food, sat and ate before we even tried to broach the subject.  Through steak, fried mushrooms, and a side of salad we talked about the fate of our babies.  The babies that were suggest we "terminate" would be the one closest to the cervix (Baby A - Margaret) or one of the large babies in the middle (Baby B - James or Baby C- Martha).  We cried because it really was love at first flicker.  We knew if we decided on selective reduction then we would be losing one of the first babies we saw and fell in love with so what was the other choice?  After more tears and anguish, we decided we would leave it to God (or fate if you wish to call it that).  We knew we had a bit of help with me releasing eggs but how many eggs fertilized, implanted and grew was up to God.  So we were going to stick with that plan.

I can't tell you how relieved I was that we were on the same page.  That we were going to try and carry them all.  I knew it would be tough but I was determined to make it happen. We moved to Alabama (which I NEVER should have done) the doctor there was awful.  Thank God the day before I had seen a doctor in town that agreed to take me as a patient.  That night, Baby A's (Margaret) water broke at 26 weeks.  I knew enough to know they might be viable but it was too early to have the babies yet.  We quickly got dressed and sped down into Huntsville.  I was checked into the hospital and the doctor I had just seen the day before was called.  He ordered magnesium for me and it stopped the contractions.  I was able to hold off having more contractions, developing an infection, or having any other problems for six days.  By day six I was having pain in my back.  This is not entirely unusual since I had injured my back as a teenager.  When I begin to notice the pain in med back was coming in waves at a regular interval of five minutes I was really worried.  I had back labor with my oldest children and I thought I was having back labor again.  The nurses did not believe me since it was not reading on the contraction monitor.  I knew my contractions were not reading on the machine with my oldest children either until I was rather far along on labor.

The nurses finally called the doctor when they noticed regular contractions on the print out.  When they finally checked I was five centimeters dilated!  Margaret had started moving down into the birth canal.  I was prepped for an emergency C-Section.  At first I was told my husband would not be able to be in the room because there were so many people in the OR that there would be no room for him. I told the doctor there was NO way they were wheeling me into the room without him!  They took me in first and got me the epidural.  John joined me too thereafter near my head.  Soon I was slit open and out came one baby per minture... 1:17pm, 1:18pm, 1:19pm and 1:20pm.  In four short minutes I was the mom to four new lives precariously hanging in the balance of life and death.

Baby A - Margaret
Little did I realize how the specter of death hung over one of my children as I was wheeled off to my room to recover.  John ran to look at all the children and took a quick picture to show me they were all okay.  Those are the pictures on the left. That was the first sign I got to see that my babies had made it.

Several hours later a nurse comes into my room saying that one of the babies was having a problem and that she was told to bring us to the NICU right away.  There was a slight debate on how I would get to the NICU since I had just had a C-section but I said I would get up and get into the wheel chair so I could go to the NICU.

Baby B - James
What happens next I don't think I can share in detail again.  Even after all most 7 years it is still so very painful.  To recount what happened as Martha died in my arms is still like living her death all over again. You can read more on Martha's story at My angel, Martha Renee.

I know all too painfully well the complications of prematurity.  I have three surviving children who have a multitude of disabilities and a set of siblings missing their sister. I miss my daughter and there is an ache in my heart that I think will never go away.  I know my husband also feels the pain of her passing which is why we rarely talk about her.

Baby C - My Angel Martha
There is no winning in having children prematurely.  It is important to continue finding ways to stop premature delivery and how to help those children who are unfortunately born too early.  Due to the research conducted by the March of Dimes my children were able to breathe. I will forever be thankful to their research!

If you are looking for a worthwhile charity to support please consider supporting the end of prematurity and the research done by the March of Dimes!

Baby D - Joseph
Thank you for reading this and bringing awareness to the real dangers and unexpected consequences of prematurity!

Thursday, November 13, 2014

DNA Results from WES Have Arrived!

www.mylifeiguess.com

In the typical anal retentive mode that I function I got the test results early from the doctor.  I mean I can basically read the results as well as the doctor.  Interpreting the results are harder for me but it allows me time to read the results, digest the information and then formulate questions to ask the doctor when we meet on Monday.  The results were what I feared... Joseph once again leaves a BIG FAT QUESTION MARK behind in his wake!



We started this test on May 6th.  All of us went to get our blood drawn.  This would allow more samples to be available to be compared to Joseph's. I waited for SIX months to get the results back from the whole exome sequencing.  So here is what the results page of the test reads. Keep in mind that 97% of Joseph's DNA was analyzed to determine these results...

  1. No definitive explanation for the cause of the phenotype in this patient was identified by this analysis.
  2. Variants in genes possibly associated with the reported phenotype: Heterozygous for the R854Q mutation in the vWD gene. (I looked this one up. It's von Willebrand disease.)
  3. www.philly.com
  4. Variants in the candidate genes with a potential association to the phenotype: 
  • Heterozygous for the V759M and E826K variants of unknown significance in cis in the MICALL2 gene 
  • Compound heterozygous fit D3110N and W3598X variants of unknown significance in the SPTBN5 gene.
ACMG incidental findings: none identified



The good news is that the ACMG was clear.  That looked for known genetic markers that are a danger to your health.  Most of these genes are cancer related.  That's really good news for all of us because we elected to know if any of us were a carrier.



The interesting news is that Joseph and I have a genetic variation for von Willebrand disease. This genetic mutation (R854Q) is a common mutation found in Italy. Also found in a population in Wales. As far as our family tree goes we do have known family ties to Scotland.

The other gene mutations the report said that V759M is pretty unknown. The E826K has been linked with a significant reduction in the cAMP-induced chloride current in cystic fibrosis patients. It does not sound good. I found a BRAND new research article discussing cAMP chloride transport and the neurites of brain cells. I know one of the mutations mentioned discussed how neurites are under active. From what I can tell neurites are the pokey parts of cells. Then the other mutation reduces the cAMP pump. What if this is why Joseph is so mentally slow? The neurons in his brain do not have the neurites as long as they should be while the cAMP pumps are not pushing out the signal from the neuron. Maybe the neuron's signal is getting lost from one cell to the next?

The D3110 gene was associated with squamous cell cancer of the lung. My grandfather on my mother's side died of lung cancer when I was 18 or 19. He was a smoker but I know he did not die of any kind of lung cancer that is typically associated with smoking cigarettes. I will have to follow up with my mother and try to get more information.

The W3598X has no information on it to compare. I will have to look for more information.

The SPTBN5 has an paralog gene called ACTN4. ACTN4 is associated with a couple of rare diseases. One of these is Focal Segmental Glomerulosclerosis (FGS). A lot of the problems Joseph has are symptoms of this disease such as intellectual delay, hypotonia, constipation, undescended testes, and hernia.

Interesting stuff and I will be interested to see what the doctor says. Even more interesting will be me presenting him with the research I have found so far and the questions I will have for the appointment!