So tired.....

I'm tired of being infertile. I am. I really am. I'm done, and I'm not enjoying it any more (OK, I never enjoyed it, nobody ever does - but you know what I mean)

I'm tired of going onto the message boards and finding new people with questions. It strikes me real hard when I can count the "oldies" on the fingers of one hand. All the others have come and gone (mostly gone on with pregnant bellies). I'm tired of having most of the answers because I've been there at some point. Now I don't even feel like answering any more. I'm just plain tired!

But there is always a little ray of hope that keeps me going. I'm back to hoping again. I'm hoping my trip to Denver brings me some major revelations, and suddenly we're able to boink our heads and say "Of course!!! Why did we never think of that???" Or "Of course - how come Dr M didn't think of that???"

Chances are, there won't be any major revelations. I'm just hoping my self out into a vulnerable spot again, to let myself be disappointed. Do I sound bitter? It's because I am. I wasn't, but I am now. Extremely "bittered" by everything that I have gone through and everything that I have lost. 

I'm not going to say much - I don't want to jinx whatever hope I have for Denver. I want to go with a blank canvas (or one that has been painted white over what was an extremely messy black and red canvas!)

Countdown...

We leave for Denver on Wednesday and I'm beginning to get real excited! Tickets done, hotel and rental car booked, all set!

Poor Simba gets a raw deal when we go off like this. He has to go stay in doggie day care. I'm sure he has fun there because he's completely exhausted when we pick him up, but we like to believe that he has the most fun with us! 

Not much else mulling in my head right now - the highlight of this week will be the Denver trip and hopefully the answers we will get from the doctors there!

Balancing your chances with a balanced translocation

From the time we discovered DH's balanced translocation, it has been a constant topic of research and discussion in our house. On one hand we were really excited to finally have SOMETHING which could point towards being the reason for our IF struggles. On the other, it really hit us as being something not fixable.

As we talk to people, we realize that this is a topic most people have no clue of. And why should they? Unless you're in the research field working on chromosomes, or unless you have been directly hit by 2 translocated chromosomes at some point in your life, you wouldn't know what they are and the impact this could carry.

What is a chromosome translocation? It is the re-arrangement of parts between different chromosomes. There are 2 types of translocations:
Reciprocal (the kinds DH has) and Robertsonian.
Further, the translocations can be Balanced (where the total chromosomal material is not impacted) and Unbalanced (where the exchange of chromosomal material is not equal)

DH has a Reciprocal Balanced Translocation on his 11th and 22nd chromosomes. This means a part of chromosome 11 broke and got attached to chromosome 22. An equal portion of 22 broke and got attached to 11. This means DH's chromosomal material is complete - he is not missing any genetic information, neither does he have any extra.

Here is an image

We carry 2 sets of chromosomes - one set from Mom and one from Dad. When a sperm or egg is made, it comprises of 1 set of chromosomes, and fertilization is what completes the 2 sets. 

In the case of a balanced translocation chromosome carrier, there are chances that his / her gamete (sperm or egg) COULD be balanced or normal, or could be unbalanced. Here is an image which shows the probability:

This is the normal / standard probability. However, individual numbers or rates would vary.  For example, in our case, we seem to have only 1 in 10 embryos turn out normal / balanced. So our rates don't appear to be the 33% that shows up in this diagram. In our case we fall in the low 10% category. 

(Please Note: This image shows a translocation on both arms of the chromosome. DH's is single arm - so his percentages may differ - I'm still looking for an appropriate image to post here)

.16% of the world's population (1 in 625 people) carries a translocation. In most cases translocations go undetected until this person experiences infertility / multiple miscarriages, or has a baby with birth defects which are chromosomal in nature and traced back to parental karyotypes. 

If a couple gets pregnant with an unbalanced embryo, the woman will most likely miscarry the baby. In some cases, pregnancies do carry on to full term, and the couple may have a baby which is severely disabled in multiple ways. 

The way we can bypass this is by subjecting our embryos to PGD and selecting only the normal / balanced ones for transfer. Some studies say embryos formed from gametes of a balanced translocation carrier could be more pre-disposed to aneuploidy. We don't know that for sure yet. 

It's been a fascinating and at the same time extremely daunting and scary topic to research. Today I found an article which talks about the EXACT same translocation that my DH has, except in this case it is the mother who has the translocation. So her karyotype begins with 46 XX and DH's begins with 46XY. The rest of the karyotype is exactly the same. This poor woman had a baby with an unbalanced translocation (she did not know about her translocation till the baby was born with special needs) and needless to say, her life and world have been turned upside down since then. I got goosebumps reading the article. Here is it for those that are interested:

http://www.cgmh.org.tw/eng2002/mag_mj/mag_mj_26_0107.htm

The purpose of this post is to bring some awareness to our reality. We talk this language EVERYDAY, and are scared out of our wits. Sometimes we think that most REs don't really know this subject that well, and we have often heard our REs admit they don't. They refer to their knowledge as something that is really the embryologist's knowledge. We have now started emailing doctors and scientists in Japan and China etc to get some more insights. 

At the end of this - I am going to demand an honorary PhD in the topic! :-)

Wait wait - there's too much going on here!!

Have you ever had one of those days where the hours are racing to get ahead of each other, and all your to-do's are racing to catch up, and then you realize there are additional to-do's that are flying in through the windows, and you need to re-prioritize your list, and get back to letting your to-do's race to catch up with the hours that are running faster and faster? Phew - yeah, having one of those!

So from yesterday - yes, I thought I'd call my old OBGYN. I called, and obviously nobody remembered me anymore (FINALLY - a medical office that doesn't know me by voice!!!). I had last been to my OBGYN in 2003 for my laparoscopy (We were paying out of pocket for fertility treatments then, and I decided to have my lap done by my OB to save some money!)

Yesterday's conversation:

Receptionist: Thank you for calling ____, this is Veronica, how may I help you

Me: Umm, My name is _______, and I wanted to request an appointment with Dr______. I'm an old patient of hers. 

Veronica: What's your name again? Can you spell it?

Me: OK ___________

Veronica: What's your date of birth?

Me:________

Veronica: OK here you are. You haven't seen Dr_____ since 2003?????

Me: That is correct

Veronica: You'd be considered a new patient, and Dr______isn't accepting new patients anymore!

Me: OK - set me up with any of the other doctors

Veronica: To see a doctor the earliest available date is in November

Me: How about a nurse practitioner?

Veronica: Let's see now - maybe I can put you in sometime in October...

Me: Nothing earlier?

Veronica: No

Me: OK, Thanks, I'll find someone else.

I mean, seriously - these OBGYNs should be FIGHTING each other to get to do my pap! Don't they know they have a chance of having their names included in history books as being one of the doctors involved in getting ME KU, and thereby solving one of today's most convoluted and complex infertility mysteries? 

I called the next place and stayed on hold till 4 PM when the office closed (so I knew they wouldn't answer anymore anyway). I gave up and thought I'd try this morning. 

Woke up this morning to the rearing head of my old Aunt F. Haven't seen HER in a while! :-)

(At least not in her AF form I haven't seen her in a while!)

So - I called my RE, who thinks this is for sure AF. I called CCRM, and guess what - yup - I'm seeing Dr Sch next week, on the 11th!! YAY!! 

DH had some frequent flyer points, and we got free tickets for both of us! And we're all set - I can't believe how quickly this fell into place! CCRM says I can get my pap done later - I don't have to have it done right now. 

Woohoo - my trains rolling too! I mean, at least to find some answers. Doing a cycle is still months away.......but, something's rolling!

The basics!

I got this packet in the mail from CCRM with the costs and details of everything. It also instructs me to "make sure I have my health and physical exam done, along with a pap smear within the last 12 months". 

My last exam was exactly 12 months ago - ok 12 months and 2 weeks now. So we've missed the 12 month mark. And now I have something to schedule and do! 

Then it struck me - Wait, I don't have an Ob GYN any more!! After years of going to RE's and their offices taking care of all my paps and physicals, I have not had the need to go to a basic OBGYN! 

Considering that I have such intricate knowledge of my reproductive system and its shortfalls, I'm finding it funny that I have no idea where to go for a basic health work up! 

Piece by piece

Any disease is best cured when it is diagnosed properly. Obviously. Whatever the ailment might be, the key is the diagnosis. 

For years we had no diagnosis. I went through all kinds of tests and checks, and everything always came back within the normal range. The points that stood out were:

• Is my uterus bicornuate? My OBGYN (who I don't trust any more - but that makes for the story on another post some other day) thought it was. The first RE I went to said I had a "mild variant of Bicornuate uterus - but no visible septum". My current RE says I have "an indentation" on the top of my uterus, but it's not bicornuate, nor is it anything that you can cut, or fix. What CCRM thinks is yet to be known.
• PCOS: No. Although my first RE put me on metformin (saying "It won't hurt, all it can do is help"). 
• Endometriosis: I have very bad cramps in my luteal phase - throughout the luteal phase, not just PMS cramps. So much so that I wake up at night cringing in pain. First RE was constantly dismissive of my pain, till I read about endometriosis and fought with him. Then I had a laparoscopy in 2003. They found "a couple of tiny spots" which were removed. So Endometriosis: No.
• Tubes: Clear. 
• Hormones: All normal. 
• Cycles: Slightly irregular - but I personally know people with completely out of whack cycles who got pregnant immediately.
• Height / weight - Normal. 
• Food habits: normal
• Stress: Gone from low to high to low to high. I mean, I wasn't stressed when we started TTC. Now I am. I had a high stress job which I quit to control SOMETHING in my life. So job related stress is out of the picture. But stresses of other kinds come and go. 
• Lining: Normal - good. 
• Karyotype: Normal 
• Additional testing : Normal - the only thing that came back was that I am "heterozygous for variant 677C>T" on my MTHFR test. (For this I've been on Folgard as well as Baby Aspirin and on Lovenox shots once I got my BFP - very aggressive for a heterozygous result, but hey, we'll do whatever it takes)
• Treatment: 6 clomid cycles, 5 IUI with injectables, 4 IVF's so far. 
• Response to medication: Appropriate - my 4 IVF responses with my age:

1. IVF 1 - Age 34: 29 eggs retrieved
2. IVF 2 - Age 36: 17 eggs retrieved
3. IVF 3 - Age 37: 14 eggs retrieved
4. IVF 4 - Age 37: 17 eggs retrieved

• Losses: 1 miscarriage (missed m/c), 1 chemical, 1 ectopic. These are recorded. Now as I think back, I think I may have had more losses. I have not so far had a natural loss that has been medically recorded. However, I have read enough about the symptoms and signs, and I can very clearly remember at least 3 times in the past having exactly the same symptoms. For sure. So maybe multiple losses? 2 of those times I called the above-mentioned OBGYN. His response "It may be strange for you, but as a Doctor I have seen several such cases. You're fine. Just take some Motrin or Advil and you'll be ok". So I'll never know if I WAS miscarrying then or what....

Let's take DH now:

• Semen Analysis: All good. Count, motility, morphology - all good.
• Karyotype: Balanced translocation  (46,XY,t(11;22)(q23.3;q11.2)

We've been doing PGD on our embryos to select balanced or normal embryos for transfer. We've noticed a 90% unbalanced rate in our case. We have, however only been checking for the particular translocation. We have decided not to check for other issues right now. 

I think it's harder when the translocation carrier is the male, because then it is just a matter of numbers. 

Meaning - lets take, say 10 eggs, and 1 million sperm. If the female had the translocation, and had a 90% unbalanced rate, then 1 egg is good (on average) and chances are, that egg will fertilize ok (given all else is well). 

If the male has the translocation, and a 90% unbalanced rate, given 1 million sperm, 900,000 are unbalanced, and 100,000 are good / balanced. Now the chances of 10 of those sperms to come from the good batch vs the bad batch? You do the math. And then these 10 have to fertilize the 10 eggs :-)

We've been reading and researching on Balanced Translocations, and it seems like a balanced translocation is not an easy issue to deal with. Firstly there is the issue of the embryo being chromosomally not proper. Then there are chances that embryos formed from a carrier of BT have a higher disposition for aneuploidy! We've not been checking that at all! Here is a publication of a small study:

http://ohsufertility.com/Papers/pgd%20balanced%20translocation.pdf

Now what? Now we're not sure. Where do we go from here? Here is what confuses us:

• One miscarriage - the test results came back normal for chromosomes of the baby. Then why did I miscarry?
• One chemical - That is chance, and 30% of the world's population has chemical pregnancies without ever being aware of it.
• One ectopic - Chance again? 

Do we have a diagnosis now? I don't know yet. I don't know what else we're going to find out still. I don't know where we're headed after this!

Welcome to wherever you are

Jon Bon Jovi first strummed and rocked his way into my heart when I was a giddy teenager many many years ago. For some reason I have always loved this guy, and therefore, his band. 

This is a recent Bon Jovi song that I love. I was thinking how the words resonate "fate" and also hope and encouragement. Maybe I am where I am in my IF journey, and I am there because that's where I am supposed to be right now. Maybe I shouldn't doubt myself and my abilities so much because "God makes no mistakes"

Here are the lyrics to "Welcome to Wherever you are" from the album "Have a Nice Day"

"Maybe we're all different
But we're still the same
We all got the blood of Eden running through our veins
I know sometimes it's hard for you to see
You're caught between just who you are and who you wanna be

If you feel alone and lost and need a friend
Remember every new beginning is some beginning's end

Welcome to wherever you are
This is your life; you made it this far
Welcome, you gotta believe
That right here, right now you're exactly where you're supposed to be
Welcome to wherever you are

When everybody's in and you're left out
And you feel you're drowning in the shadow of a doubt
Everyone's a miracle in their own way
Just listen to yourself, not what other people say

When it seems you're lost, alone and feelin' down
Remember, everybody's different; just take a look around

Welcome to wherever you are
This is your life; you made it this far
Welcome, you gotta believe
Right here, right now you're exactly where you're supposed to be
Be who you want to be, be who you are
Everyone's a hero, everyone's a star

When you wanna give up and your heart's about to break
Remember that you're perfect; God makes no mistakes

Welcome to wherever you are
This is your life, you made it this far
Welcome, you gotta believe
Right here, right now you're exactly where you're supposed to be
Welcome to wherever you are
This is your life, you made it this far
(I say welcome) Welcome to wherever you are
This is your life, you made it this far
(welcome) you gotta believe
Right here right now, Welcome"

Sometimes it's so hard to believe that there's a plan behind all this. But perhaps there is. Perhaps this was meant to be for a reason. I don't know that reason yet, and perhaps I never will. 

This weekend I've been thinking how consumed I am by our infertility. Everything - and I mean EVERYTHING in my life is about my failures and my losses and disappointments. I have been asking myself to "accept" and try and mould my life around what is, and not what could be or should be. 

I tried to think about who I was before all this hit me. Can I, in some way, bring that person back to life so she can continue down life's journey in an unaffected manner? Or have I been maimed and mutilated beyond repair? I'm not sure how one moves on, and lives a normal life. When we started TTC, we still had friends who didn't have children, or who weren't even TTC then. Now, 7 years later, there's almost nobody we know who doesn't have babies. We're at that age where all our friends are measuring their achievements and progress in baby milestones. Given that influence in our social life, how does one accept and move on? Won't we always appear as the sticking out "sore thumb" couple? 

There will either be pity and pity induced inclusions, or pity induced exclusions. Both situations are painful to us. Every time a friend talks about their baby, is it not pathetic to respond with a Simba anecdote? IF is very very isolating, and it's a struggle that hits you so deep in your person that it shakes your very core. 

IF changes you so much that it's sad. I asked DH how I am different now from when he first knew me. His one sentence answer said it all "Your eyes now search for a purpose" How did we come to this? If there is a reason behind all this, and if God is perfect and has intended us to be where we are today, why is it so hard to accept?