Chromosome Confusion

I had the meeting with the genetic counselor.  She was so nice!  She did her best to explain biology to me, even though science is one of my weakest subjects!  We started out looking at pictures of what chomosomes should look like in a normal human.  We talked about how our baby had Trisomy 5, and that those always end in miscarriage.  We talked about how we get 1 chromosome from our mom, and one from our dad, and it is unknown why ours had an extra 5 chromosome.  Could have something to do with my "older" eggs. 
Next we talked about Balanced Translocation.  I've included an article that explains this below, which will help you.  I struggled to understand today!  They can give us a blood test to check for this to see if one of us is a carrier. 
Bascially I learned that of couples trying to conceive a mere 1% will have recurrent miscarriages.  Look at us in that 1%!  If you told me there was a 1% chance of my sandwich having glass in it, I would eat the sandwich.  I 1% risk is pretty small.  I can't believe we're in such a minority!  Someone my age, with recurrent miscarriage has about a 2% chance of having a pregnancy with chromosomal abnormalities.  That means we have a 98% of a pregnancy being healthy.  I guess. 
We can have the blood test to see if we have balanced translocation, but that doesn't mean they can do anything to fix it.  They can't go in and rearrange my chromosomes!  It is what it is, but at least then we'd know what's really causing things.  If we have balanced translocation, we can have PGD testing done on our embryos to try to see if any of our embryos are healthy before we transfer them.  But, PGD testing is an additional, EXPENSIVE cost.  The blood tests we're talking about to test for the balanced translocation aren't cheap either.  They run about $900 for Rob, and $900 for me, and there's a good chance insurance won't cover it. 
We also went over all the family history we had to provide them, which didn't really show anything conclusive.  It wll be nice to get a copy of the counselor's report to see how she summarizes our situation.
This blog is a very SHORT version of the 1.5 hour meeting I had this morning.  If we have any more miscarriages, we need to have them tested to see what caused them.  They can't guarantee that our first 2 miscarriages were caused by chomosomal problems, but I tested negative for all the other issues that can cause miscarriages, so I think that is what happened with them.  If we have the testing and find we have balanced translocation, we could consider the option of donor egg or donor sperm.  That might help.
So, now I wait for the counselor to send her report to Dr. Stassart.  Rob and I think Dr. Stassart will recommend the testing.  Then we will see where we go from there. 

Article that might help explain:

Balanced Translocation and Recurrent Miscarriages

      

A chromosomal translocation is a condition in which part of a chromosome has broken off and reattached in another location. Translocations can be completely harmless or they can cause serious health problems, depending on the circumstances. In the case of the former, many people can have translocations without being aware of the condition. This is usually the case for reciprocal (or balanced) translocation, a type of chromosomal translocation that increases the risk of recurrent miscarriages.

What Balanced Translocation Means:

In a balanced translocation, a person usually has all the genetic material necessary for normal growth -- a piece of a chromosome is merely broken off and attached to another one. However, when that person's cells divide to create egg or sperm cells for reproduction, the egg or sperm cells can end up with extra genetic material or missing genetic material, which could lead to miscarriage depending on which chromosome and genes are affected.

Incidence in Recurrent Miscarriages:

In about 4.5% of all couples with recurrent miscarriages, one or both parents has a balanced translocation. Research has shown that couples with balanced translocations are more likely to have miscarriages than couples without balanced translocations. There's some evidence that balanced translocations involving specific chromosomes are more likely to cause miscarriages than others.

Testing for Balanced Translocation:

Balanced translocation is diagnosed through a test called a karyotype in which blood samples from both parents are analyzed looking for the translocation. Some research suggests balanced translocation in the mother is most likely to be associated with recurrent miscarriages, but fathers can be carriers as well.

Treatment for Balanced Translocation:

There is no cure for balanced translocation, and in most cases, the only adverse effect on health is recurrent miscarriages. For couples affected by balanced translocation, odds are in favor of a successful pregnancy at some point, but repeated miscarriages can obviously be difficult to cope with emotionally.In some cases, couples with balanced translocation can opt for a treatment called preimplantation genetic diagnosis (PGD). In PGD, the couple conceives via in-vitro fertilization along with gene testing of the embryos to be sure that they do not have an unbalanced translocation. PGD is very expensive, however, and not covered by insurance much of the time, which is another reason why many couples are forced to keep trying without intervention.

Ramblings....

Whoops - haven't blogged in over a week!  Where does the time go?  This was a BUSY week.  I tried to pull off a surprise party for Rob for his birthday but he caught on.  We still had a great time though having family and friends over.  I got Rob some nice gifts too.  This was after celebrating our 9th wedding anniversary on Valentine's day at Red Lobster.  9 years, and each year just gets better and better. 
On a sad note, Rob's aunt Joan, uncle Gary's wife, died this past week.  We attended her funeral yesterday in IL.  On the ride home, Rob's brother Cory said, "So weird how your life can just change like that.  Last Saturday, Uncle Gary didn't know he'd be at Joan's funeral this Saturday."  That was such an interesting view of the situation.  It really hit home for me.  Sometimes we get so sucked in to our day to day lives, or we get caught up in whatever major is going on in our lives at the time, that we forget to look at the big picture that life really is short, moments really are precious, and we need to live each day as if it were our last.
On the way home from the funeral, Rob, Cory and I stopped at White Castle for lunch, and then made a trip through Cabella's.  We had so much fun spending the day with Cory.  The three of us had a lot of laughs.  It turned a sad funeral day into a day full of some fond memories.
Today we are going to Rob's mom and dad's house for his birthday dinner - his mom makes him whatever he would like to eat - which of course is shake and bake chicken...and she is making him an R2D2 cake, at his request.  :)  Rob and I are going over there early because we need to have Joe and Sue help us with our genetic counseling "homework."  There's a lot of info we need to bring with us to our appointment, all dealing with family history.  I spent about an hour on the phone with my mom the other night getting what I needed about my side of the family.  I will be keeping this info somewhere safe now that we have it!
As for me, I haven't been feeling that well lately.  TMI, but I've been having some bowel issues.  I went to my doctor on Thursday, but they narrowed it down to some meds I was still taking for IVF.  My IVF doctor told me it is probably not from those meds, but said I could stop the meds anyway.  I stopped taking them and the symptoms have not gotten better.  I think I have IBS.  It is not a fun thing to have.  I hope it is just that and not anything more serious.  I won't go into detail, but my BM's are NOT normal...and I have back pain associated with it as well.  My poor body sure has been through a lot since July!
I started a serious exercise regimen last week.  Felt so good to get running again on my treadmill.  However, I've been totally derailed by pizza, birthday cake and White Castle this weekend.  Hoping to start fresh again tomorrow.
Went to church today.  My parents came with us for the 2nd week in a row.  They really are enjoying Appleton Alliance, and they really like the Pastor.  I can't thank Ann enough for her influence to get us back to church, and now that has extended to my parents.  What a wonderful sign of God's work in our lives.
Thursday is our big appointment!  I really hope the appointment pushes us closer to our goal of having children.  To be honest, I don't even know what the outcome will be.  I don't know if Rob and I will need testing, or if the info we drag in to them on paper is all they will need.  Just hoping that when we leave there on Thursday we will be armed with more info, or that Dr. Stassart will have some more answers, whatever they may be.  We really have learned a lot in the past few months, in all areas of our lives.  I never knew our fertility journey would get this involved, but here we are, continuing to hope for the best!

Second Place.

Two posts in one day?  Why not.

It's a "stay inside" cold winter day.  The animals are fed, the house is clean (enough) and Rob is playing video games with his "I don't know anyone is looking at me" video game face on.  Ladies, if you think you snagged a winner who likes real life more than video games, don't let him buy an Xbox in his 30's.  Hee hee hee, just kidding Rob.  I'm sure the fantasy of video games is much better than the pressure of real life sometimes.

So, in the quiet moments of today I had time to finish the "I Am Second" book.  I found some things that really stood out to me.  Until recently, I didn't respect people who talked openly about their faith or their relationship with God or Jesus.  I used to think religion, along with politics, was something you should keep to yourself.  However, our world is certainly a lot more vocal when it comes to politics these days than it ever was, and I understand now that the people who talk openly about God want to share him with anyone who will listen because he has made such a difference in their own lives.  SO - for any of you that want to keep reading, please do.  I promise that all my blogs from here on out won't be all about shoving God down your throats if you aren't interested in hearing about it.  And, just because I'm talking about things that have recently been eye opening to me doesn't mean I'm someone you should want to hang out with less, or should be labeled as a weird "Jesus Freak" in your cell phone contact list.  :)  I'm happy for what my recent discoveries have meant for me in my life.  Some of you have already found this peace that I have recently found, and others of you have not.  Some of you hope to find it, some of you think it's bogus.  Whatever you think, it's up to you.  But if you have certain events in your life that you aren't sure how to deal with, and if you read the book "I Am Second," you will most certainly understand. 

Anyway... Here are some of the statements that resonated with me:

Kathy Ireland - "God was so patient with me, despite my failures.  The hardest thing was giving up control to God, really trusting him in everyhing..."  I went to church as a kid, but I never read the Bible," she said.  "When I finally opened it up, years later, in that lonely room, I felt like I met Jesus for the first time...."  "...despite all the messes I've made, He keeps cleaning all of them up.  He wants to be front and center in my life.  It hasn't been easy, especially for someone so independently minded like me.  But letting him be first, it is so freeing."

Bradie James - On Sundays ever since Bradie could remember, he went to church with his parents.  Bradie learned the Bible at children's programs and youth group, and he sat through many long sermons.  But he didn't fully understand everything he heard.  "I knew the verse that said, 'Consider it pure joy whenever you face trials of many kinds, because you know that the testing of your faith develops perseverance."  [Reading Bradie's story you learn that his father dies, leaving him to care for his mother, and shortly after, his mother was diagnosed with Breast Cancer.  One day both Bradie and his brother feel a need to rush home.]  She died shortly after they arrived.  Both of Bradie's parents were now gone.  He didn't know what to do.  "I remembered the verse again that said, 'Consider it pure joy whenever you face trials of many kinds, because you know the testing of your faith develops perseverance.'  I realized that verse was true.  Everyone really does have to go through trials.  My faith was shaken.  I had mixed emotions.  I felt if God was so sovereign and so good, how could he let these people that I loved so much leave?....I have learned that God never leaves.  Even when the people you love die, God is still there."

Laura Klock (from WI) - [After years of drinking and relationship problems] she cried out to God, "I can't do it anymore.  I can't run anymore.  I can't.  You can have it.  Do with me whatever you want, because I give up, I surrender."  "I'd like to say that heaven opened up and the lights came down," she said.  "None of that happened.  But I did have a real experience.  I felt a sense of peace.  I realized at that moment that I wasn't in control.  God was in control.  And I had to let him carry my burdens, my worries, and my troubles."

Sam Bradford - [Reacting to being "benched" in his early college football career...after being a high school football hero...]  "Looking back, God hadn't abandoned me.  He was preparing me for what he had ahead.  I think he wanted me to know that my relationship with him wasn't just about football and success.  When I realized what he was trying to teach me, and then how I had treated him, I was ashamed.  I knew I had messed up.  I had turned my back on God because he didn't give me what I wanted."  He learned to view God differently.  God wasn't the genie in a bottle who made life perfect.  He was the creator of the universe who has his own plans and who wants a relationship with his people.

Joe Gibbs - [After being derailed on a journey to get answers from a spiritual father he had in his life, trying to find out what the answer to his career was as a football coach after failing as Offensive Coordinator] "I was questionning God the whole way.  Why was he doing this?"  Gibbs wondered.  "I just needed answers."  But just as doubt and fear and the anxious wanderings of his mind began to crowd out all hope, he saw a Bible sitting beside him on an airport bench.  He flipped it open at random and stumbled across an old familiar passage in the first chapter of James.  "Consider it pure joy,"  Gibbs began to read, "whenever you face trials of many kinds, because you know that the testing of your faith produces perseverence."  (This is the 3rd time the book pointed this out to me.  With our 3rd miscarriage, our faith was tested, and I found a deeper relationship with God and I will persevere onto whatever he has planned next for us).  Just then a stranger crept up behind him and read over his shoulders the same verse.  "That verse changed my life," the man admitted.  "I had the job I always wanted but then lost it.  Faith in God and what he said in that verse gave me my life back."  "I don't know if he was an angel or just a man sent to encourage me," Gibbs recalled.  "But I told God, right then, that my plans were his....I trusted him to take care of me."  "I found in life the hardest things for us to handle are real adversity and real success,"  Gibbs concluded.  "Those two things get us.  When adversity comes, doubt creeps in, but when success comes, I struggle to keep God first.  The only thing that keeps me going in the right direction, keeping my priorities right, are relationships - first and foremost, my relationship with God....I am on God's team.  He is my head coach, and I've got to be close enough to him to hear his play calls." "People sometimes ask me to prove that God exists," Gibbs said.  "Best I can do is show people my watch.  Nobody looks at a watch and wonders how it came to be.  They know there is a watchmaker, a designer and creator.  So how can we look at our universe, an infinitely more complex piece of machinery, and not assume the existence of a creator?  That's how I look at my life.  None of it was by accident.  God designed it."

So yes, I just typed out a good portion of the book, but if any of you are interested, you should get yourselves a copy.  It's a great read.  Turns out, it was a gift from the Interstate Battery sales guy, to Rob, at the shop, at Christmas-time.  In reading the book I learned that Interstate's chairperson Norm Miller started the "I Am Second" movement. 

Best of luck to you...for once in your life you can be happy with "just second place."  :)

Be kind to one another

It's been a busy week.  Everything went well at the post-op appointment.  After talking to Dr. Wagener again though I'll admit I'm totally confused about the chromosome thing.  We are meeting with a counselor, but Dr. Wagener made it sound like the problem didn't come from Rob or I (no translocation) but rather that it was a "fluke."  So, we've quite possibly had 3 flukes.  So, Rob and I SHOULD NOT play the lottery...apparently we have terrible luck!  :)
It will still be interesting to see the counselor and learn what our chances are of having a baby.  I am a little bit more concerned now though about birth defects - especially since I'll be the dreaded 35 in 2 months...that number is nearly a death sentence when it comes to fertility.  We will just wait and see what the experts say.

Let's see...what did I learn this week...
At church on Sunday we learned the parable of the Good Samaritan.  Really, I learn so much at church these days...maybe I don't get it all correct, but I feel like I'm learning stuff!  When they said "Good Samaritan" I leaned over and said to Rob "Oh, perfect!  We are donating clothes to Goodwill today!"  (Thinking it meant "help your neighbor").  It was so interesting to hear how they broke it all down.  I won't do it justice, but here's what I retained...I learned that "loving your neighbor as you love yourself"...or by DOING good things is not the ticket to Heaven.  Truly the key is believing that Jesus died for your sins. 
In the parable, we all know that a man is beaten and robbed and left for dead.  Two "priests" (as a child I never knew the first 2 passer-bys were priests) come by and don't help him.  They were worried about getting beaten and robbed themselves if the thugs were still in the area.  The last man, a Samaritan (also as a child I didn't realize that a Samaritan was someone from Samaria...who were not well liked...I thought that was the name given to a person who helped people...a Good Samaritan!)  This Samaritan tried to heal the man's wounds with oil and wine, and put the man on his donkey, which meant he had to walk, and took him to an Inn (which is not a hotel, it is more of a house with an extra room, or a barn) and told the Inn keeper to look after him, and he paid him for it, and said on his way back he would pay for any extra expenses that were incurred.
We hear this story often told, but it comes from a longer excerpt in the bible where Jesus is preaching and a lawyer challenges him, hoping to trip him up...he asks "what is the key to heaven" and Jesus asks the man back "what do you think it is?" and the lawyer says "love your neighbor as yourself" and Jesus says "yes, go do that then."  Almost sarcastically.  Then the lawyer gets wise that Jesus didn't give him a full answer and he presses on "and who is my neighbor?"  And then Jesus tells the story of the Good Samaritan.  He then asks the lawyer who he thinks was the neighbor to the beaten and robbed man, and the lawyer says "the one who had mercy on him."  The lawyer couldn't even say "Samaritan" because they were so despised. 
The greatest lesson here is...and this part I NEVER knew...is that the parable of the Good Samaritan is symbolism for Jesus dying for our sins.  It is from the part of the bible that is leading us up to "the cross."  I never knew this, but Jesus is the Samaritan.  He is someone who many people didn't like at the time, yet he helped people in need and when he tells the Inn keeper he will pay for all expenses...that is synonymous with Jesus dying on the cross for all our sins - he paid the ultimate price for all of us.
So, the key to heaven is NOT giving your old clothes to Goodwill....or baking your neighbor a cake when they've gone through a rough time and then patting yourself on the back for having done so.  :)  Having eternal life is not dependent upon your own self-justification.  It is not about you saying "well, I gave clothes to Goodwill so I am worthy of eternal life."  Sure, doing those good deeds all help, and they are the make of a good Christian, but what the Good Samaritan parable teaches us is that Jesus already paid the ultimate price for us to have eternal life.  We just need to believe in Him, and in this.
SO INTERESTING!  With that said...it certainly did feel good to drop those clothes off at Goodwill.  And, there are angels in our lives who do offer us help in times of need...they are our good friends and family members.  Just yesterday, our good friends Cheryl and Mark surprised us again with a thoughtful gift.  Little did they know how much it means to us right now with a lot of things we have going on.  The gifts just keep on coming, and continue to make me want to do better, and be better.  This week is the beginning of Lent. I already know some things I will be "giving up" (or working on) to do better, and be better.  And also, Friday night fish frys - here we come!  YUM!
Speaking of people being good and kind to us...mom and I were shopping last weekend and I saw at Gordman's a plaque that said "Be kind to one another" and then it referenced a bible verse.  Ephesians 4:32.  Now, like many Americans, I watch Ellen DeGeneres EVERY DAY.  She is SO funny and she does the most amazing kind things for people.  Her show brings so much GOODNESS to my week.  I look forward to watching her everyday.  Anyway, she is against bullying and everyday closes her show with the words "be kind to one another."  When I saw the plaque at Gordman's, I thought I'd look it up (on the Internet because I have to dig my bible out of the basement yet...I know it's down there...from the days when I taught 8th grade religion class when I was in college!)  Be kind to one another, tenderhearted, forgiving one another, as God in Christ forgave you.  What a good message.  I will be working on that for Lent, my friends!  :)
Yesterday my friend Larry told me the story of his daughter's co-worker who was pregnant with twins. They knew all along that something wasn't right with Twin B.  The twin girls were born this week, premature.  Twin A was rushed away to the NICU and she will survive.  Twin B, who they named Nora, lived for 10 minutes.  Mom and dad got to hold her and say their goodbyes.  Now they have one baby in the NICU and one baby they will be planning a funeral for.  I realize that Rob and I are not the only couple to have fertility problems.  We are not the first and we will not be the last.  And there are many many devastating stories out there.
My sister-in-law Ann told me that our struggles have made her appreciate her children even more.  I know she doesn't mean she's happy to be benefiting from my struggles, but I can see that our story is a message to others...and that while she is more grateful for her own children because of this, I too am more grateful for the blessings we do have.  I may not have children, but I do have THE BEST HUSBAND in the world to be going through this journey with.  I also have the best cuddly kitties who make any lonely sadness disappear instantly with a purr and a head nuzzle...and I have the 2 best poop-eating dogs.  Yes.  I love them in-spite of those types of challenges.  :)
Thanks for continuing to follow my blog as I learn more insight about what this world is teaching us and as we press on in our journey to having children and starting a family.  I can't wait to hear what the counselor says and what Dr. Stassart says is next for us.  I'm ready to take on anything.  I realize that our next pregnancy has a good chance of ending in miscarriage, but there's also a chance that it may not.  :)  And, that is the chance that I'm excited to take.  I am definitely strong enough to carry on and move forward!

Genetics

Getting really good at two week waits.  :)  We see the genetic counselor on 2/21/13 (2 weeks from tomorrow) at 8:15am at St. E's.  They will be sending me information beforehand that I will need to bring with me to the appointment.  I don't know what to expect from this appointment but I am looking forward to hopefully getting some answers...I do have a list of questions prepared already.  I got a phone call today from RMIA.  They needed some more test results from my D&C and the pathology from it...and they will need the report from the genetic counseling.  After Dr. Stassart reviews all of that information he will contact us to let us know what our options are.  I have a post-op appointment tomorrow to make sure everything went OK with the D&C.  I'll keep you posted on how the appt. on the 21st goes.

Trisomy 5

Well we found out today our baby was a boy.  :(  He had a chromosomal mutation of "trisomy 5." I think what that means is that you have pairs of chromosomes, but ours had an extra number 5 chromosome.  (I could be wrong totally, but I think that is what it means).  Dr. Wagener told me that this trisomy would always end in 1st trimester miscarriage.  There are some trisomys that can end in live birth.  Trisomy 21 is Downs Syndrome.  Trisomy 13 and 18 can result in live birth, but often with birth defects and don't survive. There is a good hunch that our previous 2 miscarriages had chromosomal problems as well.  The good thing is that now we know what caused it.  We know it wasn't an infection, or a problem with my uterus, etc.  I've had all the testing and I'm "normal" so our main problem is the chromosomal problem. We have to meet with a genetic counselor.  It's not to say that we can never have a healthy pregnancy, but our risk of miscarriage is slightly higher than normal.  (No duh!)  Dr. Stassart will be notified of the findings.  I guess we wait and see what the counselor says. You know, there's always donor eggs/donor sperm if we want to still try pregnancy...we shall see what all our options are.  We do NOT have translocation, which would increase our miscarriage risk to 60%, so that's good at least. 
And...that's all I know about that.