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!

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.)
  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!

Wednesday, November 12, 2014

Kids Today...I'm Confused

So my children always fascinate me.  I never really know what they are thinking.  I believe having older children before I had the surviving quadruplets gave me lots of insight into raising children and what I was doing wrong (sorry older kids, I truly mean it!).  I think my oldest children, even though I mostly only let them watch educational programming, still saw a LOT of commercials.

The little kids do not really see any commercials.  We got rid of cable before they were a year old and got a ROKU to stream TV. We got an antenna to pick up local stations and the only channel they watched was PBS. Since PBS has no real commercials I was fine with them watching TV.

Over the years I LOVED I could take the children to McDonalds and the children were not begging to go all the time and they weren't even asking to eat the food.  They called McDonalds the "place where the kids play" or "Old McDonalds".  It was SO cute!  Most important is that there was no begging for the toys, food, or anything associated with the fast food giant except the play place.  LOL

Now fast forward to present day.  Since the children do not watch commercials they have no idea what's popular or trendy.  There is not a drive in them to buy toys or stuff.  I have been trying to figure out what to get James for Christmas that is NOT electronic and can hopefully be played by himself.  Joseph and Margaret are fairly easy to shop for but James is difficult.  So last night I sat down with James and the Chromebook and we went looking on Amazon for toys.  We were scrolling through pages of toys on the internet.  After about five minutes James asked me if we were done.  I said we had only been looking for five minutes. Do you like anything you see?  James hesitated and said he only wanted a Nerf Gun and a Kindle.  That was ALL he wanted!  I was proud that he does not want a lot of stuff, but dang, it makes it SO hard to buy things for him!

I remember when I was a kid and I couldn't wait until the Sears Toy Catalog came out!  I would scour that thing and mark all sorts of stuff that I wanted. Even my older children, Jerrin and Caitlin, would love to look over the ads from the newspaper on Thanksgiving and find stuff they would love to have. Now, I can't get the kids to tell me much of anything they want.  Margaret wants a Fuby and by default so do the boys.  Joseph wants musical things and so do the others. James wants a NERF gun along with a Kindle.  I know Margaret and Joseph would enjoy those too.  So I think that will be our Christmas.  I am going to see about getting an iPad Mini instead of a Kindle so we can take advantage of the educational and therapy apps available in the Apple store.

Sunday, November 9, 2014

Kid Craft Ideas for Thanksgiving

Thanksgiving is coming and I have been thinking about craft ideas to do with the children.  Having children with multiple difficulties (ADHD, intellectual delay, sensory processing problems, and autism) craft time can be interesting!  Here was a picture I came across on the internet and I thought the children and I could manage this craft activity.  I will trace out the shapes and then let them practice cutting.  Then with some help I think we can get all the pieces glued onto the bag without too much mess!  LOL

I have been saving up toilet paper rolls for awhile now and I have been waiting for a good craft idea.  I found this idea on Pinterest.  Toilet paper roll turkeys.  Again, with a little work in advance I think I could have a fun craft project for all the children and not frustrate anyone.  Often James is too impatient for crafts.  Margaret likes the idea of crafts but can't pay attention or stay still long enough to complete something. Joseph enjoys doing crafts but he is really slow.  Being intellectually delayed he will get it and I don't want to rush him so I think you can see why we have problems with craft time...  everyone operates at a VERY different pace!

Here is the last idea I found on Pinterest.  Sorry but there is only an image and no instructions.  I think by the image we get the idea of what to do.  Another variation and something I have been wanting to try is salt dough.  By clicking here you will be taken to a recipe for salt dough.  I know the recipe says its for ornaments but I think it would work well taking a handprint.  You can also google salt dough recipes and find lots of options!  I think this craft could come out SO cute!  It would be me doing most of the work so I don't think this is really a craft for the kids but it looks fun and they would love helping to make the dough!

Hopefully we will get around to making at least one or two of these crafts.  If we do I will post pictures on how it turned out!   If any one tries one of the crafts please send pictures!  I would love to see how they turn out!

Saturday, November 1, 2014

Joseph Loses His First Tooth - Finally!

Joseph FINALLY lost his first tooth!  The boy is all most seven and FINALLY lost his FIRST tooth! His top teeth were pulled because he had fallen so much he had killed the root in those teeth plus cracked them.  His bottom left tooth is the first tooth he lost on his own.  The bad news... we think he swallowed it!  :(   Then to compound matters and make it worse... my husband and I forget to pick up his note explaining why is tooth was gone.  So no visit from the tooth fairy.  We are SO BAD!

We told Joseph that the tooth fairy was busy.  I feel AWFUL!  The good news? The tooth on the left is loose too.  We will try and make sure he does not swallow this tooth too.  Then John and I will have shot to get the tooth fairy to visit again.  I think the tooth fairy has a lot to make sure for!  I am sure she will leave money and a toy this time

Friday, October 31, 2014

Happy Halloween!

We had a good time for Halloween even though it was SO hot in Phoenix!  It was 93 for the high!  John carved out a GIANT pumpkin!  He did a really good job and carved out the pumpkin from the bottom (it is the pumpkin on the far left in the picture). I thought he did a really great job! That pumpkin was so large we were able to place a pillar candle in it and not burn the top!  The other two pumpkins were some cheap plastic light up pumpkins I got from WalMart.  That is the way to go out here in the crazy desert heat!

Here is a picture of the children dressed to go trick-or-treating.  They looked SO cute.  Joseph was still small enough to wear his costume from last year. It was a bit short but not too small size-wise which is crazy since the costume is a size 2T/3T!  The children will be turning 7 in the middle of December!  James wanted to be Batman.  So I went and got him a new costume.  The rule, NEVER any more than $20 on a costume!  I was able to pick James's costume under my price point so that made us all happy!  James had a ton of fun wearing his costume.  He and Joseph were having a great time play fighting!  Margaret, being autistic, has been fixated on Elsa from the movie Frozen.  There were several memes going around about a drinking game involving seeing a girl in an Elsa costume on Halloween.  We are glad we could help you out if you were participating!  LOL  I really got this costume originally for her to have for her Birthday but I was able to get it in time for Halloween so we let her wear it.  She was SO proud!  Sadly, I have all ready had to take it away from her because she started to pick the sequins off the dress.  This is just an issue Margaret has with any fabric item. She has to pull ANYTHING loose off... thread, details, or other items.  It makes getting her cute and nice things difficult!

So we went trick-or-treating.  I am SO proud of the children tonight. We went through one whole large neighborhood (both sides of the street) and we did not have a ton of candy by the time we got back to the car. Their bags were only 1/5 of the way full. I told them they should be grateful for the candy they had because people did not have to give out candy (I told them to remember all the houses we saw that were dark), they did not NEED the candy and it was not good for them, and we were all hot and sweating (it was 92 or so today!). I said we could go home, tell daddy about all the fun and interesting thing they saw, hand out candy to anyone else that showed up, and they could eat all the candy they wanted within reason. They said they wanted to go home! I was really proud of them! I thought they would have fought it because I got a lot of initial whining they needed more candy! I think this is the first year we have gone trick-or-treating and not ended up with a crazy amount of candy! I'm happy the kids learned about being grateful and realizing they had more than enough candy.  Since we had such a small amount of candy I let them keep it so the Halloween Fairy did not need to make a stop at our house.  

James and Joseph having fun play fighting as their superhero characters.  It was a battle of Batman versus Captain America!  Captain America fell down and I ended the video.  It turned out I shouldn't have because it was a bluff by Captain America to beat Batman.  That sneaky Joseph!  Er, I mean Captain America!