Biopsy Samples Off!

This was supposed to post yesterday, I'm not sure why it didn't :/ Weird! 

I wasn't expecting a call this morning since our embryos have already been biopsied, vitrified and tucked safely away, so I was surprised and a little worried when I saw SCRC come up on my caller ID. It turns out Dr. D was just calling to give me an update and let me know that my biopsy samples had been shipped and should be arriving at Reprogenetics today! I wasn't expecting them to ship out so quickly, especially since today is a holiday, but we're officially ready to start testing.

Dr. D said he spoke with Reprogenetics today and they're going to run our tests consecutively - the PGD for Fragile X first, and then the aCGH PGS on any unaffected and premutation carriers. This means that only Fragile X negative embryos will be screened for chromosome issues, which makes sense. What I'd like to know, is if we pay for "up to" 8 embryos and only test 6, can we test 2 more in the future without additional charges? Probably not, but its definitely on my list of things to ask them since I've heard of other people doing this with their labs. I still need to give them my credit card information for the aCGH but I haven't been able to get in touch with their financial person H yet. I left a message with their messaging service on Monday so I'll probably call again tomorrow.

Cilly sneaks into the linen closet for a relaxing nap

Dr. D also hinted that he thought we might get our test results early. He said the 15 day estimate was quite conservative, if the lab was busy, etc. Once the PGD is complete, and this is the portion that takes a bit longer, the aCGH will be performed the next day and then we'll have our results. Everyone at the clinic has their fingers crossed for us and we're all thinking positive and willing these embryos to be healthy.

As for recovery, I'm still really bloated and starting to get occasional cramps in anticipation of my period which should be due at the end of the week. I can wear my regular jeans but the belly is definitely there and it's deflating unevenly. When I woke up this morning my belly button looked off center which is so weird, the right side seems to have gone down a bit faster than the left. I can't wait for my belly to be huge and lopsided because there's a tiny person in there, not just a ton of fluid.

SCRC in the Running

Yesterday morning we had our consultation with SCRC, our other strong contender for our IVF clinic.  After we ruled out USC I thought we'd be going with HRC, since they came so highly recommended by my acupuncturist, but SCRC made a really, really strong case.

• They do tons and tons of PGD cycles, about 35-55 per month, definitely over 500 per year, and their embryologist, who came to meet us personally, was fantastic. 
• They use Reprogenetics about 95% of the time, and with day 5/6 biopsies, they have a less than 1% rate of inconclusive results - I don't remember if he said it was 0.4% or 0.8% but it was excellent. 
• They use laser biopsy and biopsy in house
• They're only 6-9 minutes from my house which means I don't need to spend an hour in traffic. This is a huge plus, I don't have to leave at 6am for my appointments!
• They don't validate for their structure (negative) but there's a structure just around the corner that will give us 2 hours free.
• The doctor doesn't do my monitoring ultrasounds himself, his tech does them and delivers him the photos and lab work. This is a negative since HRC promises that you get your doctor at every appointment but the tech was very nice and did an excellent job with my scan.
• They would also recommend two cycles and batching our embryos, which seems like a good plan.
• This doctor is of the opinion that when you know something works well, you should attempt to replicate it. Since I responded well to the 10 days of birth control and 8 vial Menopur cycle, he's inclined to follow a very similar protocol 
• They're big supporters of FET and feel it's better to put the embryo back into as normal an environment as possible. I'd be doing a frozen, medicated transfer. 
• Money-wise I'm trying to sort out where they are. There's some issue with billing since they usually bill on behalf of Reprogenetics and we'd need Reprogenetics to bill Kaiser directly. This will be a deal breaker if they won't let Kaiser pay for our probe because that would cost us a lot more money. Other than that, I think they're about $36k for two cycles, including meds, and one FET. Fairly standard among the clinics.

While there I had another AFC done and was pleasantly surprised to see at least 7 lovely antral follicles! It looks like the corpus luteum cysts are gone, though the simple cyst is still hanging around, tiny and unobtrusive on my left ovary.

If we're counting this as a new cycle, we have until around August 20th to make up our minds about which clinic we're going with. I have a call in to HRC to find out how many FET attempts are included in their package and the billing department at SCRC is looking into making our PGD coverage work. I'm really torn now, I think either clinic would be a good fit and there are some strong positives for each one. I have no idea how we'll make a decision!

IVF T-1 Month

For the past couple weeks, E and I have mostly been in a holding pattern. We know what we need to do to move forward, but there are several hurdles in our way. A huge part of the infertility process feels like we're being asked to "hurry up and wait". Waiting for a cycle to start, waiting for follicles to mature, waiting for a PGD probe to be built, the dreaded two week wait. Right now we're waiting for my corpus luteum cysts to resolve and for the next real cycle to start. For now, we need to:

• Pick a clinic. I think we've narrowed it down to HRC or SCRC and we have our consult with SCRC this Friday. This one we need to pay for, which I don't love, but they seem like they could be a real contender. I'm looking for the best PGD doctor I can find so I can handle a few expensive consults along the way. 
• Wait out the withdrawal bleeding from the birth control pills and wait for the next real cycle to start. Whichever clinic we pick, we can't move forward until my ovaries have absorbed the old follicles and I start a real period. Even though my period was only 2 weeks ago, this withdrawal bleeding is like another full period so I'm assuming I have another 28ish days until I start a fresh cycle.
• Pick which PGD lab we're going with. I'm torn between Reprogenetics and RGI, though I suspect both would be good choices. I'm getting genetics reports faxed over and toying around with the idea of Karyomapping, a newer technology for identifying single gene defects in embryos without needing to build a probe. Reprogenetics is using it but I don't know if it's available to the public yet since the genetics counselor didn't seem familiar with it. 
• Sort out funding for a double IVF cycle. All said and done it will probably be close to $40k, and they like their money upfront. 

In the meantime, I've been keeping up with my acupuncture and trying to research our best options. I've had to go to the last two clinic consults on my own so I'm really happy E will be able to join me for the one on Friday. I don't mind if he skips the monitoring appointments since there are sooo many and not much happens, but I do like him to be there for the initial consults and the biggies like egg retrieval. His work schedule is still crazy and he wont get a day off till mid August, but he has some mornings free again which gives him time to make these appointments. We've also got to get Milou into the vet for her yearly vaccines and Zuzu (better known as Fuckie) has a cold that will need another round of antibiotics. We've definitely got our plates full!

Poor Fuckie sleeping off his cold. Yes, he is laying on top of a weight...

One Down, ? To Go

I had my consult for USC today and I'm sorry to say I don't think they're going to be the right fit for us. I absolutely love, love, love my doctor, she's wonderful, but the clinic just didn't really click with me. They don't do many PGD cycles which makes me a bit uncomfortable and they're $4,000 more.  They're also smack in the middle of downtown which means an hour there in traffic and at least an hour back which I would love to avoid if possible. They don't validate their parking which, while it's only $8 bucks each time, is an annoyance that really bugged me. If I'm spending almost $40,000, the least they could do is validate my parking. I wasn't feeling great coming out and their parking structure, which has the stupidest design known to man, kind of sealed the deal for me. There are two levels each named P1, P2 and P3 and I spent 10 minutes wandering around trying to figure out why my car wasn't on P2 when I was damn sure I'd parked it there. It was on the other P2, in the same structure, with no apparent way of distinguishing the two according to the parking attendant I asked -_- It all rubbed me the wrong way.

So that leaves us with HRC, who work with both Reprogenetics and RGI, the two genetics labs we're considering, or another clinic TBD a bit closer to my house. I'm thinking either SCRC or Reproductive Partners. With USC likely out of the running, I feel like I need to compare HRC to at least one or two more clinics before I can be make a decision either way. HRC seems to have a lot of experience even though they're kind of far away and if I could be sure they were the most experienced out there, I would be okay with the distance.

Cycle wise, I still have unresolved corpus luteum cysts from last cycle so I'm stopping birth control and we'll be officially starting IVF in a month. This is probably a good thing, even though we'd like to start ASAP, because it gives us more time to pick a clinic and more time to work on building a probe and getting our genetics stuff in order. I wish each answer didn't come with a hundred more questions but that seems to be how things work in the infertility game.

TWW: Carriers, The Cartoon

Today, I'm sharing a cartoon that was published on NPR. While our stories are a little different, Lauren didn't find out until she was pregnant that she AND her husband were both carriers while I know in advance, I can't help but relate to every carrier of a genetic disease out there. There are so many stories, so many diseases, but they all share the same core elements: fear, hope, despair, waiting. I feel like being a carrier takes so much from the experience of pregnancy or TTC. You don't get to worry about planning baby's birthday, or whose eyes or laugh baby might have, you're too busy agonizing over whether you can even get pregnant and if you do, will you have to terminate because of a tiny genetic typo? Lauren's typo, the mutation for CF, is 3 missing base pairs, while my Fragile X repeats look like a cat walked over the keyboard while my code was being written. CGGGGGGGGGGGGGGG. Whoops, but there's no backspace.

Spoiler: Lauren's story has a happy ending, and while I'm not a fan of her "everything works out in the end" message because, honestly, a lot of the time it doesn't work out in the end, I do appreciate the light she's shedding on carriers of genetic diseases. For her future comics, I'd love to see something about TTC with the knowledge that you might have to terminate multiple times or have a child with a serious genetic disease. Or a comic about parents who have lost a child to a horrible genetic disease and are trying to heal and decide how to go on. Or one about those of us whose genetic mutations come with a side of infertility and how just getting pregnant is a constant struggle with fertility drugs and the insurance companies, with testing and waiting, with no guarantee of a healthy baby. Those topics are all a little heavier, less palatable than "it all works out in the end", but like so many things, one step at a time. One ray of light at a time.

(Source)

(Source)

All cartoon images by the incredibly talented Lauren R. Weinstein as shared on Nautilus

To read the rest of the comic, you can find the other parts here's Part 2, Part 3, Part 4 and Part 5.

Genetics Expanded

After waiting two months for an appointment with a genetic counselor, E and I finally got in to see one this morning. As expected, they had the results on E's second genetic screening which confirmed his diagnosis of Y chromosome infertility due to an AZFb microdeletion.

They were fascinated with E and the fact that he has any sperm at all. With his genetic profile, he shouldn't be able to produce any sperm but has still had counts as high as 23 million. I would have liked to talk about the particulars more, but ultimately the end result is same, 20 million or 2, his non-motile swimmers are not usable.

The counselor got more info on our families but couldn't really suss out why we both have fertility problems. For a multitude of reasons, both our families are fairly small, and with such a small sample size it's tough to draw good conclusions. We can assume that E's infertility occurred de novo, as a fluke, while mine is still unexplained. They're testing me for fragile x syndrome as a last ditch explanation, since my family consists of all girls for two generations, but it's fairly rare to have a completely silent carrier and I don't have any of the symptoms or markers for the disease aside from my lack of eggies. E was almost late for work so I couldn't get my labs drawn today and will have to go back.

The counselor was really analytical which I appreciate, I approached the situation in the same manner and it made it really easy to connect with him. He understood my desire to have 5 years of egg fertility data to look at before making a decision (sadly impossible) and suggested we come up with a wall sized algorithm to predict all possible choices.  We went over pretty much every situation from E's sperm and my egg to egg and sperm donors. I think we have a somewhat solid plan of action.

**The Plan!**
1. Get my labs done for Fragile X and possibly CMV antibody. CMV antibody status is important for picking a donor. Done!
2. Decide if E is going to have the stimulated semen analysis to confirm for sure that his sperm is unusable.
      a. If E's sperm can't be stimulated, we go with a donor
      b. If E's sperm can be stimulated and is usable, we begin proceedings for IVF with ICSI
          - If E's sperm is usable, we will gender select so as not to pass on the mutation
3. Assuming E's sperm is unusable, we need to pick the donor. I want this to be mostly E's choice. I'm thinking a local sperm bank would be best so we can order the day before it's needed and courier it over.
4. Purchase donor sperm. We need to decide how many vials we want and how many will be stored.
5. Decide whether we're doing a stimulated cycle to see how I respond and try to get a better idea of my egg reserve, or proceed directly to a medicated cycle and IUI
6. Proceed with a medicated IUI cycle
7. Hopefully get pregnant!

While I definitely still have that I might cry sensation at the back of my throat, I am feeling a little better and more prepared. My biggest concerns are that I might be pushing E and not allowing him enough time to grieve. I've been really waring with myself on what we should do next and how we can balance my time crunch with his coping and emotional well being. Today, the genetic counselor said something along the lines of "people take fertility for granted, like gravity. It's just something that's there. But the reality is that for many people it isn't". I talked about how, cost aside, I wished our rolls could be reversed because I don't care about being genetically related to my child but E does/did.

Although we already knew it, the counselor said that not being able to have biological children is horrible and devastating and may always hurt, but that's normal and okay. I think that really helped E to hear this since he's been struggling with the idea that he may never be 100% okay with not having  genetically related children. I think he understands now that it's okay for that to always hurt a little, but it doesn't have to prevent us from having a family and kids that are his in every way that matters. He doesn't have to be thrilled about it, he just has to be at peace with it. I told E the only things I need him to be 100% on are 1. That he still wants children and 2. The donor we pick. As long as he's sure about these two things, I think we'll be okay.

AZFb Microdeletions and a Hysteroscopy

About a week ago E and I went to his follow up urology appointment and received the terrible news that he has a complete AZFb microdeletion. I've started to post a handful of times, but knowing that information hasn't provided us with the answers we need.

The AZF region is located on the long arm of the Y chromosome and there are three segments, the proximal, central and distal, or A, B and C.  Keeping in mind that these microdeletions are extremely rare, deletions in the B region are the most uncommon and have the worst prognosis. After getting my hands on every AZFb paper I could find, the literature concludes that men with complete AZFb deletions do not produce sperm. Men with C region deletions usually have low but usable counts, but B region deletions are an end of the line sentence.  Although E did have several 0 or near 0 semen analyses, he also had a 10 million, 23 million and 2 million, so he is very clearly producing sperm.

(Source)

 
This leaves us with three possibilities:
- The genetic test was wrong, which is unlikely
- All the semen analyses were wrong, which is unlikely since they were done at 3 different labs
- E is an anomaly about whom they will write papers

We just repeated the genetic test but still need to schedule an appointment with the genetic counselor, and have a more detailed semen analysis done at a fertility clinic. We know if we were able to use E's swimmers that we'd have to select for girls, but I'm sure the counselor will want to go over it with us. That and the likelihood of donor sperm, which we are already prepared for.

For me, I had my Hysteroscopy done today, and while it was worse than I was expecting, it wasn't horrible. After the HSG I was picturing the Hysteroscopy as fairly similar, a little catheter threaded up, a numbing injection this time which I was sure would hurt, but nothing too terrible. Instead, there were at least 8 local anesthetic injections into my cervix and let me tell you they HURT, way more than I was expecting. I could feel those suckers all the way down my butt and thighs and they made me shake all over.

Then came the manual dilation of the cervix. Here I mistakenly assumed that since they'd done all those numbing injections, I wouldn't feel anything. Yeah, that was TOTALLY WRONG. I felt every single second of that and it hurt like a bitch. They ended up having to do it multiple times, including one time after they'd tried to put the camera in and it wouldn't fit. Once the camera was actually in, it wasn't horrible and it was pretty cool to see the inside of my uterus on the screen.

During my saline ultrasound, the doctor had seen a little piece of something could be a polyp but she thought it was more likely to be a bit of dislodged lining. It did it fact turn out to be lining, as I had a thick, fluffy lining, despite the progesterone I'd been taking for two weeks to thin it out, so no surgery necessary. Basically everything was normal, normal size, shape, color, it had perfect blood flow, no endometriosis, no polyps, a great lining, basically nothing physical that would prevent an egg from implanting.

At the end of the procedure, the doctor gave us a little print out of shots of my uterus. It felt like a stand in because we don't have a baby for ultrasound pictures, but we took it home for our records. You can't really see anything, just pink walls and fluffy lining.  It's scintilating.

Behold: My Insides

We also had a good chat with our doctor about possibly going with her clinic, since we have to go outside of Kaiser for IVF. I like that she is already familiar with our case and knows how the Kaiser system works, but we'll have to see if it's a good fit once we've met with the genetic counselor.