Endometrin Again

Today's appointment was a quick one, just a single vial blood draw to check out my progesterone levels. Unfortunately, it looks like my numbers are just a tad low, they like to see a level around 2.0 and mine was only 1.5. This isn't a setback though, it just means it's time to start my Estrace and Endometrin as scheduled to boost it up a bit. It is rising as it's supposed to, it went from 0.7 to 1.5 with ovulation and since I haven't taken any hormones until now, that was entirely on my own steam.

 Still, it's time for a little extra support so as soon as I hung up the phone with the nurse, I swallowed my Estrace and popped in an Endometrin tablet and snapped on cloth panty liner. Then I rushed off to acupuncture for my weekly needles and nap session. I'm gearing up for the transfer with S as well, I did my last regular heat clearing and energy moving session today and will see her again Monday where she'll prep me for the embryo by improving blood flow to my uterus.  I'll be seeing her or her associate D on Tuesday after the transfer as well to help our little frostie stick.

Please don't kill my panty liners Endometrin...

Since this little babe IS going to stick and I'm going to be taking Endometrin for the next 10-12 weeks, I'm curious to see how my liners hold up to the assault. I'm trying out an all cotton flannel liner today and I'm thinking I might strip it with dish soap or something similarly grease cutting afterward, just to prevent any of the medication medium from affecting the absorbancy of the fabric.

My next check in is tomorrow to see how much my progesterone has gone up in 24 hours. My poor little arm, the tech can still only draw from one vein so it's taking a lot of abuse. This brings the FET calendar to two more days of Medrol, three more days of the Z-Pack and aspirin, and hopefully 10-12 more weeks of the Endometrin and Estrace to look forward to.

Taking The Plunge

I met with Dr. K this morning and have a really long chat about IUI, IVF and PGD. Considering how much we're spending on IUI, she strongly recommends we move on to IVF and shoot for another awesome cycle like last month. Although I was hoping for some way to get a guaranteed or refund protected cycle, USC doesn't participate in ARC anymore and they have no cost sharing or package deal. I even asked the billing department if I could make my own package deal and pay up front, but they said no. Legally, they can't accept money for services they haven't rendered yet, and if I get pregnant on the first try they would have to give me the money back. Boo. With my 20% Kaiser discount, one IVF cycle would be $10,734 with an estimated $5,000 for meds for a total cycle cost of $16,000. All their cycles using donor sperm use ICSI so that's included, as is embryo cryopreservation, storage for 1 year, and 1 fresh or frozen transfer.

On the genetics front, my RE was totally prepared. She already submitted the request for my PGD approval through Kaiser. For once, there are no hoops to jump through, they have a billing code in place for it, and it covers single gene PGD for Fragile X. It should be a comparatively small amount to add chromosome testing as well, which Dr. K said would be worth it since we're already spending so much. She also has two calls and emails into her preferred genetics company and they said they might not even need a probe to look for Fragile X anymore. I'm skeptical but we'll see what they say. I'm up for whatever gets us the best results.

On the health front, my baseline ultrasound was disappointing. I still have a lot of corpus luteum cysts that haven't resolved and it was pretty tough to see the antral follies. It's normal to have corpus luteum cysts after taking a lot of fertility drugs, they're basically the left over "houses" that the eggs grew inside. I'm going to be on birth control for 14 days and will then have another ultrasound to check and make sure the cysts have resolved. If they have, we'll go ahead with the IVF, if they haven't, I have to take the cycle off and lose a month.

E is at work so we haven't had a chance to chat about it much. I know it's a high number but it's lower than I was expecting after hearing about 20-30k+ cycles. Plus, if we get healthy embryos that test negative for Fragile X and Chromosome problems, we should have a 65% success rate of them sticking. I just hope I get another good cycle, I need those 7 eggs to try for 3 healthy embryos.

Blah

Today was much more of a blah day then yesterday.

I woke up to what definitely looked like a light period, complete with miserable cramps and since E and I are dog/house sitting, I had no pads and there is apparently not one single Advil or Tylenol in the house. Today makes day 11 of this month's "period," which sucks no matter how you look at it. It started as soon as I stopped the progesterone like it should have, but then I started the birth control on CD 2. I bled through CD 4, spotted through CD 7, and then thought it was done until I stopped the birth control. I was being too optimistic since it started right back up and I've been spotting CD 14 - today, CD 17. I feel like I should be looking this up or asking other people following an IVF-ish protocol if they've experienced the same thing, but biologically it makes sense. Stupid period, why don't you go disappear for 9 months -_-

After determining that I would need to go buy some supplies, I felt rushed through this mornings shot. I was running late to meet up with our old vet to pick up our animal's charts and had tried to stick myself three times before realizing that the needle must be a dud. It acted just fine when I primed the injection, but must have been dull or slightly bent since it absolutely refused to go in. Ouch. I'm now one needle short, since I had an exact amount, and am going to have to buy more next time I'm at Kaiser.

Won't you throw my ball for me? See how cute I am in this tiny bed?

Revisiting the topic of side effects, I can't tell if I didn't get enough sleep or if the Menopur is making me crazy tired. I feel drowsy, like I can't fully wake up, and I can't seem to shake it off. I tried napping, was unsuccessful, and have felt "ugh" and "blah" all day. I would try to put it more eloquently, but I can't summon the energy required to do so. Blah it is. Poor Milou seems to be feeding off my energy,  she's been laying around looking at me all mopey and sad, even though she had her favorite class, Agility, today.  Now I just feel guilty that I'm bumming out my puppy, completing the circle of "blah".

Blah puppy. Sorry Milou

Update: I just administered my evening injection and was greeted with the unwelcome sight of little round bruises :( I was really lucky with my first cycle and managed to not get a single bruise on my belly. This time I have one on each side to go with the little red pin marks from the blunt needle and my previous injections. I really hope they don't linger, the designated injection area is so small that I'm going to have to inject on top of bruises if they don't fade quickly.   

IUI Take Two, The (Second) First Injection

This mornings injection, the first one of our second cycle, went pretty well. Mixing everything up was second nature at this point, and it was nice to only have to mix 4 vials at once. E is off work today, his first off day in forever, so he was able to keep me company while I did it. It was a really wonderful change.

The injection itself wasn't too bad, but I did feel a little out of practice. I felt that edgy sense of panic rise up for a second right before I stuck the needle in, but it was gone as quickly as it appeared. I need to try and remember how I sat last time for the most comfortable injection, the needle was a little uncomfortable in my skin and I couldn't tell if I was sitting wrong or just needed to desensitize myself a bit. It burned going in as usual, but like before it's nothing unbearable if I go slowly. I'll probably try a different position for my injection tonight to see if it helps.

4 Days of Menopur, so many vials!

To try and limit skin irritation, I'm going to trade off sides in the morning and evenings. This morning I injected on the right side, so I'll do tonight's injection on the left. Last cycle I did one side per day to give the skin time to heal, but that won't be possible with two injections daily instead of one.

I'm also unnecessarily concerned that I'll forget to do one of the injections. Last cycle I was so strict and focused it felt like tunnel vision. I'm trying to be more relaxed about this one. I'm "cheating" on the acupuncture diet, although I'm still faithfully taking my supplements and drinking my tea, and I'm trying not to stress about things. Tomorrow I have acupuncture and I go in for my E2 ultrasound and labs on Monday morning.

Birth Control Done!

Finally my round of birth control is done! I noticed a bit of cramping each day while on the pills, and as soon as I stopped them I started spotting. I was expecting it, I started on CD 2 just as my period was beginning, so I wasn't too surprised and I'm considering this the new starting line. Tomorrow is my 3rd day off birth control so I start my twice daily Menopur injections on Thursday. Menopur here I come!

These first 5 days of injections will determine how many eggs are recruited. We only have one shot at recruitment so these days will be the deciding factor on whether we do IUI or IVF. If we get lots and lots of eggs, we'll sign the USC Clinic paperwork with ninja speed, complete the cycle with them, and harvest those bad boys. I don't think we'd get more than 6, since they only saw about 6 antral follicles, but I would be ecstatic if we could get 6 embryos. Unfortunately, I think that's a little overly optimistic. Still, positive thoughts!

If we do harvest eggs, the next step would be PGD. This is where things get a bit complicated. There aren't many genetics labs that work with anonymous donor couples because we have no access to lab work. I found one lab, RGI, based on recommendations from other couples in a similar situation, and they said they could build us a probe with genetic profiles and blood from me, my sister and my mother, and two IUI samples from our donor. It would be tricky but it's not impossible, and I expect the biggest issue would come from Kaiser. My RE personally confirmed that Kaiser would cover PGD for me and E, but I'm sure there will probably be some sort of extra charge for semen instead of blood. I can't imagine Kaiser would cover that. This also means we wouldn't be able to change our donor, we're pretty committed to the one we've chosen, but I like the idea of being able to change our minds if we need to. What if his chemistry doesn't mesh with mine? What if we have no luck with this one? What if a better come becomes available?

If throwing the max dose of Menopur at my ovaries doesn't yield more than 3 mature follies, it's back to IUI for us. Last cycle we stimmed for 9 days, but since we're suppressing my ovaries first, we're anticipating needing to stim for 11 days before I can trigger and we can do the IUI. Either way, this will be our month!

Wallowing

Since our BFN yesterday, I've allowed myself to wallow a bit in the disappointment. I cheated on my diet with some In-N-Out yesterday, WITH a chocolate shake, but it was woefully unsatisfying. I think my taste buds may have changed since I started this crazy diet, the shake felt gross in my mouth and the fries were like oily cardboard.  Boo.

I couldn't let my self pity end on such a disappointing note, so today I went for something with a solid track record; a coffee bean Ice Blended and a beef-lamb doner wrap from Spitz. Both were delicious and I'm satisfied that my wallowing has come to a successful, timely end.

Also right on time was my period, I stopped the progesterone last night and started spotting this afternoon. I have my next baseline ultrasound and consultation appointment tomorrow but I'll have to cancel it if the spotting doesn't turn into a full blown period. It's incredible that you spend so much of the month hoping your period stays away but once that test is negative, you can't wait for it to show up. This infertility journey is a crazy one.

For the discussion tomorrow, I'm weighing two different options:

Option 1 - birth control to suppress, the max dose of Menopur to stimulate, and either IUI or IVF depending on the follicle count.

Cons: People with Fragile X premutations are notoriously poor responders to stimulation. We'll be spending about $3500 on the medication and might still only get one egg. If we did get enough for IVF,  which would run about 20-30k, the probe for PGD would be very, very difficult to make. Not many genetics labs work with donors because blood samples are almost always unavailable. The one I spoke with would need blood and genetic profiles from me, my sister, and my mother. They would also need 2 vials of sperm from our donor and I think we'd need pre-approval from Kaiser. We wouldn't be able to switch donors for any reason once this was done. Our eggs might not fertilize, the embryos might arrest, they might not survive biopsy, they might all have Fragile X, they could not implant.

Option 2 - A less medicated cycle with letrozole or clomid and IUI

Cons: I don't know how I'll respond to less stimulation. I could potentially not respond at all, although that wouldn't be much different than how I respond to the stronger drugs. IUI only has a 20% chance of working. It could fail again or it could work but the child could have Fragile X and we'd have to terminate.

I'm not sure where my head is at the moment. I think I'm leaning towards doing option 1, one more expensive, super medicated cycle to see if it's possible to stimulate me to make a lot of eggs. If that doesn't work and I only make a couple, I'd feel more comfortable scaling things back and trying a letrozole cycle. I don't see any reason to continue paying thousands for 1 egg when I can get the same result for less. Thanks ovaries.

I wish there was a guaranteed or proven method out there but they don't exist. I keep hearing that us Fragile X carriers do better with IUI but the idea of having an actively dividing, healthy embryo to put back is a tempting one.

TWW: Eff You Endometrin

I don't have much to say today expect that I kind of hate Endometrin. If it doesn't stop fucking with me soon, I will... do nothing and continue taking it anyway because it's helping keep my potentially there pregnancy alive. I'm only 6 DPIUI, right in the zone for implantation, and it's way too soon to be having any side effects, but the progesterone gives you all kinds of pregnancy symptoms that makes you feel insane. I'm pretty sure my boobs might just fall off my chest, I'm still crampy, and it's also conspiring with my Menopur to make me feel extra fat. Eff you Endometrin, but please keep supporting my potential, maybe there, pregnancy.

Fatty McFatty

I'm also too afraid (read chicken shit) to pee on a stick and see if the trigger is out of my system yet. It's been about 8 days since I took it, but since it can hang around for something like 13 days, I'm scared of getting my hopes too high. In theory I should be able to see the line getting lighter and lighter until it's gone, and then any line after that should be a real positive. Maybe I'll check and see how light it is on Saturday, 9 DPIUI, and 11 DP Trigger. It should be pretty nonexistent by then.

TWW: (Not) Symptom Spotting

Since I don't want to make myself crazy, I'm trying not to symptom spot up until the test. That's definitely easier said than done though since the Endometrin is giving me some noticeable unpleasant symptoms.

(Source)

• 4 DPIUI - cramping alllll day. This was day 2 of Endometrin so I'm not sure if it's implantation (pleasepleaseplease healthy embryo!) or the fact that I'm putting progesterone up my lady bits. Ugh.

• Super sore boobs - I have large breasts as it is and now they feel so heavy and sore! Every time I take off my bra I kind of want to cry and I thought I might deck E when he accidentally bumped me.

• Bloating - who knows on this one, it's a side effect of everything. The Menopur, the Ovidrel, the Endometrin, too much (healthy) Mexican food etc. I'm used to it at this point but I'd love it if I didn't look like I swallowed a balloon.

• Tiredness - another one that could be attributed to everything. I'm still recovering from a lot of early mornings and late nights for the wedding and I could definitely use a few more Z's. Still, I'm tired each night, want to sleep in every morning, and at my acupuncture appointment, where I usually doze on and off after about 15 minutes, I passed out HARD within the first few minutes and slept like a log for over an hour. My acupuncturist S let me sleep and I was super grateful. 

I have also lost my primary distraction which is going to the gym. S said she doesn't want me burning up my chi doing cardio and weight lifting when when we need all of it to go to my uterus and help implantation. By now, sperm and egg should have made their love connection and a little embryo should be implanting or on it's way to implanting. S said I can go on leisurely 30 minute walks but that's about it until after this little embryo has hopefully made itself cozy and sticky. Once (see the positive thinking? once, not if!) I have a confirmed BFP, I can get back to a more normal life. Let's go little embryo, stick baby, stick!

TWW: IUI Protocol

Now that I'm in the TWW (two week wait), I'm looking for all sorts of ways to distract myself. J and C's wedding was a happy and time consuming distraction but now that it's over, my mind is free to wander. I'm also under strict orders from my acupuncturist to take it easy for the next week, so no gym, no stress, basically no diverting energy from my uterus where there's hopefully a healthy little embryo getting comfortable.

Although I'm a little unsure about the upcoming acupuncture dates since I'm only 4DPIUI, I think this is the jist of my IUI protocol for this cycle. I'm feeling really good about this cycle so I'm telling myself we won't need to do this again until we want another healthy baby, but if we do my RE wants us to go balls to the wall. This cycle I had a bunch of little follies that didn't grow in time to be ovulated with my dominant follicle. If we need to do this again, the RE wants us to do IVF, starting with birth control (to even the starting line for all the follicles) and then 8 vials of Menopur a day to generate as many as possible. Dr. K doesn't think it's worth harvesting less than 3 eggs which I'm mixed about but see the merit in.

Here's the protocol we followed for this cycle, that will hopefully result in a healthy BFP:

CD 1 - Base ultrasound, 300 IU Menopur
CD 2 - 300 IU Menopur
CD 3 - 300 IU Menopur
CD 4 - 300 IU Menopur
CD 5 - E2 Labs & Ultrasound, 2 good follies one ~11mm, one ~8mm, 1 little cyst ~12mm, 4 tiny follies, Estrogen 68, 375 IU Menopur, Acupuncture
CD 6 - 375 IU Menopur
CD 7 - 375 IU Menopur
CD 8 - E2 labs & Ultrasound,1 good follie 15mm, 1 little cyst ~12mm, Estrogen 186, 375 IU Menopur, Acupuncture
CD 9 - E2 labs & Ultrasound, Ovidrel Trigger, 1 good follie 20mm, one small follie 13mm, 1 little cyst ~12mm, Estrogen 286
CD 10 - Positive thoughts
CD 11 - IUI! Go little swimmers, go!
1   DPIUI - Acupuncture
2   DPIUI - Positive thoughts
3   DPIUI - Endometrin twice daily
4   DPIUI - Endometrin twice daily, Acupuncture
5   DPIUI - Endometrin twice daily
6   DPIUI - Endometrin twice daily
7   DPIUI - Endometrin twice daily, Acupuncture
8   DPIUI - Endometrin twice daily
9   DPIUI - Endometrin twice daily
10 DPIUI - Endometrin twice daily
11 DPIUI - Endometrin twice daily
12 DPIUI - Endometrin twice daily
13 DPIUI - Endometrin twice daily, TEST!!

I'm on my second day of Endometrin now and it's an unfortunately messy medication. They come as these little white pills that you insert like a tampon to help support the pregnancy. The downside of course is that pills dissolve, so it looks like I'm stuck wearing a panty liner for (hopefully!) the next 10 weeks. It's a bit of a mood killer, but anything that helps keep a baby safe and healthy, until we can find out of they're healthy around 14-15 weeks, is okay in our book.

Over the next two weeks I also need to decide if I should test at home before my Beta blood test. On one hand, I don't want to see another negative test, but I also feel like I need to go into the blood test with some idea of what to expect. Some people get negative HPTs right up until their blood test but others get positives pretty quickly. I've never had a positive test before so I don't know how my body will react but hopefully I'll know soon.

Rolling the Dice, Fingers Crossed

After much discussion, some tears, and a whole lot of wallowing in self pity, E and I have cleared our heads, discussed our different options and decided to roll the dice. Beginning with my next period, we are going to be attempting IUI.

We went with this incredibly scary decision for a number of reasons.

Success. For starters, this is our best chance. People with Fragile X Premutation infertility don't respond well to the stimulation hormones required for IVF, so I am unlikely to produce many eggs for PGD testing. Most have better luck getting pregnant naturally, or with IUI as long as their ovaries are still functioning. I'm not entirely sure why this is. With the extra methylation of my CGG repeats, it could be that the protein necessary for ovarian stimulation is being used up by extra mRNA :/  My FMR1 gene is still functioning just fine since I don't have Fragile X, I have normal brain develop and am intellectually normal, but there's definitely some deficiency in my ovaries.  I'm hoping that since I'm still ovulating without assistance that my ovaries will oblige me and respond at least decently to the IUI drugs.

Cost. It feels horrible to be basing fertility decisions on money, but there's no way to get around the cost of IVF. Given my likely poor response to stimulation, we'd probably have to do IVF, or at least mini IVF, several times. Although Kaiser will cover PGD, it will still run us 20-30k per cycle.  Mini IVF would be less expensive, but we'd only get 1-2 eggs per attempt and 50% of them would probably be positive for Fragile X. Kaiser will cover unlimited IUI attempts for us, although the national average is about 4 attempts per pregnancy and most people don't try more than 6 times if they're unsuccessful. If IUI produces no results after several attempts, we will still have IVF in our back pocket and USC Fertility will give us a 20% discount because we're Kaiser members.

Information. Even if IUI doesn't work, I'll be taking the drug Menopur which is also used for IVF. Given that it takes awhile to figure out the right combination of hormones to stimulate ovarian production, IUI will give us a lot of information on how my body responds. Although we're only trying to stimulate one or two eggs with IUI, it would be nice to know if my body can be stimulated to make more so we'd have more for PGD.

(source)

On the flip side, we're taking a very big risk with IUI. We have a 50% chance that if it works, our baby would have Fragile X and we would have to terminate. Since we won't be able to do any testing on the embryos beforehand, we'd have to rely on CVS testing at 10-11 weeks. The cells would then have to be cultured, which could take up to two weeks, and then tested which could add another week. We probably wouldn't have an answer until 14 weeks and then we'd either get good news or bad news. Our RE has suggested that we schedule a termination in advance to make sure we wouldn't have to wait even longer in case the news was bad.

The notion of terminating a desperately wanted baby is terrifying. I'm a strong supporter of women's rights and fiercely pro-choice, but I never thought I'd be in a position where I'd have to make this decision. We spent so many years carefully trying to avoid pregnancy, and if we'd been 16 and stupid I think we would have terminated without guilt because it would have been the right decision. At this point in our lives I naively assumed that we'd be taking home any baby we got pregnant with, when the reality is that 50% of the time we won't be.

I'm also not sure how many terminations I could endure. I know other carriers of horrible diseases often undergo several terminations for medical reasons, but if IUI works and we have to terminate the baby, I'm not sure if I could try IUI again. It would still be our best chance for getting pregnant but I just don't know if I could take that chance again. I really hope we won't have to.

Options: IVF with PGD or IUI

People in my situation have two not so fabulous but viable options for having a healthy genetically related baby.

Option A: IVF with PGD, my eggs and donor sperm
Option B: IUI, my eggs and donor sperm

Option A is quite expensive. It would involve doing IVF which would run us about $20-$30k. I am unlikely to respond well to stimulation so we aren't likely to get very many eggs, no matter how many hormones they throw at me. Any eggs we did get would be fertilized with donor sperm and biopsied on day 5 for PGD testing.  Luckily, Kaiser will cover PGD which will save us about $8,000 but it can be hard on the embryos and not all will make it. If we were lucky enough to have healthy embryos, we would do a FET, or frozen embryo transfer and hope that they take. We may potentially need to do IVF several times to get healthy, viable embryos.

Option B is essentially a roll of the dice with 50/50 odds. We would do an insemination with donor sperm and hopefully get pregnant. We would then do CVS testing as soon as possible, probably around 11 weeks, and then wait with everything crossed for the results to come back. If they come back negative, we get to have a healthy baby. If they come back positive, we would need to terminate the pregnancy. Kaiser will cover unlimited IUIs for us, so the bulk of the expense would be donor sperm, about $4,000 for 5 vials, but we would have to endure a 50% chance of terminating a desperately wanted pregnancy at around 14-15 weeks. I don't know how I'm going to cope with that.

(Source)

Our other options for a baby would be using an egg donor and sperm donor, adopting left over embryos, or adopting a baby.

I was originally leaning heavily towards IVF with PGD but IUI may potentially yield better results. People with FXPOI have a better chance of getting pregnant naturally or via IUI since we respond so poorly to fertility drugs. E is on board with either decision, though he would strongly prefer the option that doesn't bankrupt us.

Fragile X Premutation

You might recall from my last infertility post that the genetic counselor decided to test me for Fragile X as a last attempt to explain my ovarian failure. Since my family has no history of Fragile X, any type of Mental Retardation or even Autism, I didn't think much about it. As it turns out, this was a bad move on my part.

As I hung up from a very successful conference call for work, my cell rang again in my hand. I didn't recognize the number, but since I'd been talking to three different states, I assumed it was work related and picked up without much thought.  Instead of my web developer, it was the genetic counselor from Kaiser. In a voice too cheerful for the subject matter, she gently explained that my results came back positive for a Fragile X premutation. Normal people have between 0 and 54 trinucleotide repeats in their FMR1 gene on their X chromosomes, although some argue that there's another intermediate category between 45-54 repeats. Both of these repeat categories are stable, if mom or dad has 30 repeats, their kids will get 30 repeats and the allele will remain stable.  There might be the tiniest bit of growth in the 45-54 region, if mom has 47 her child might have 50, but the again it's fairly stable.

People with Fragile X have over 200 CCG repeats, leaving a murky grey area in between for carriers with a premutation, 55-200. My test came back with 99 CGG trinucleotide repeats, putting me squarely into the group of carriers. The problem with this category is that the larger the repeat size, the more unstable it becomes. Although my other X chromosome is normal, a repeat of 99 on my bad X has, on the lower end, an 80% chance of expanding to a full mutation if passed on. This means that if my child received my faulty X, they would likely have full blown Fragile X. This is absolutely devastating news.

In addition to the crushing fear that my child might inherit severe mental retardation, we finally have an explanation for my failing ovaries. About 20% of women with a Fragile X premutation have premature ovarian failure, FXPOF or FXPOI. Women with more than 80 repeats are supposed to be at a lower risk for POF than those with smaller repeat sizes, but apparently my body didn't get the memo. This means that all the lovely symptoms I've been complaining about for years, hello hot flashes, night sweats, and weight gain, were because my ovaries were shutting down and my hormones were tanking as they tend to do when you go through menopause. Apparently my ovaries may continue to shut off, or spaztically turn back on every so often if they feel like it and only 5-10% of women with FXPOF can have children. Thus far I still appear to be making eggs every month so we're crossing our fingers that all hope is not lost yet. As you might be able to tell, I don't feel particularly hopeful.

In addition, I have to watch out for FXTAS.  Although it tends to be a bigger problem for men with only one X chromosome, rather than women who have some protection from their good chromosome, FXTAS causes ataxia, tremors, memory loss, dementia, a loss of feeling and weakness in the lower legs, and even mental and behavioral changes.  Basically, another horrific possibility, even if it usually effects men.

If you've been following along thus far, let's take a look at our odds.

Me:
0.44% or 1 in 225 women have a Fragile X Premutation
20% of women with a premutation have POF, or 20% of 0.44% which is 0.088%

E:
0.033% - 0.05% of men have y chromosome infertility
10% of Y chromosome infertility involves a deletion in the b region, so 0.0033% -  0.005%

Can you imagine the odds of both of us having such catastrophic genetic infertility?

Seriously, what in the ever loving fuck universe.

What. The. Fuck.

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.   

HSGs and Saline Ultrasounds

After much anticipation, I finally had the saline ultrasound and HSG this morning! And they weren't too bad.

The saline ultrasound was worse than the HSG, but the AFC/Exam portion of it was worse than the actual saline portion. I am definitely not a fan of the trans-vaginal ultrasounds, they are fast rising to the top of my things that suck list. The Dr. had a tough time counting follies on one side and had to press down on my stomach while pressing up with the wand which was really uncomfortable. She also had a tough time placing the catheter (speculum, dilate the cervix, thread the catheter through and up into the uterus) so it took awhile, but the saline injection itself wasn't too uncomfortable. All in all, I was really glad E was there holding my hand.

My ovaries looked fine, if rather empty, and my uterus looked fine too. The only concern was that she thinks she dislodged a piece of my endometrial lining when she put the catheter in but she was only 90% sure. If the little blob wasn't endometrial lining, it could have been a tiny polyp so she suggested I come back for another test, a Hysteroscopy. It sounds like an awful test (several needles to my uterus??? while I'm awake??) but she said if we're going to do IVF we might as well check everything :(

I'm still not sure how I feel about it, especially since I'm pretty darn sure it was just dislodged lining. She did a detailed ultrasound before inserting the catheter and it wasn't there until after she put the catheter in. If I go through with the test I'm supposed to start taking progesterone tonight which will thin out my lining and stop the 10.5mm follie she saw developing from maturing. I'm a week away from ovulating, from that little follie being ready to go. Logically I know DH and I have no chance of conceiving with 0 motility but actively preventing any chance just feels so wrong.

Since the RE had such a tough time getting the catheter in, she said she was going to leave it in so we could use it for my HSG. Then she accidentally pulled it out at the end, working on autopilot. Since she does these all day and the radiology department has less experience with cervixes, she put in a second one which was just soooo much fun -_- And as I'd read, you definitely leak saline afterwards, I didn't notice until it went down my leg, while I was still laying there and got my socks wet, ugh. I then got to get dressed with the catheter taped to my thigh, go down 4 floors, fill my prescription at the pharmacy, cross the street to another building, go up a floor and stand in the waiting room since I couldn't sit -_-

That was probably my least favorite part of the experience, the radiologist later asked me how I got there since I didn't have a wheelchair and you don't generally walk around with a catheter hanging out of your ladybits. I told her I took tiny steps lol.  After they wouldn't let E in, and the radiology tech tried to direct me into the wrong position, I was really glad that I'd had it put in by the RE, even if I had an uncomfortable walk. All the radiologist had to do was plug into the catheters IV port and inject the dye. Both tubes were nice and open, the dye shot through one side and after I tiled slightly, shot through the other, and not a single cramp from the dye, though it could have been that I was so uncomfy already I didn't notice.

All in all not too bad, a little uncomfortable but not awful by any stretch. 

SA Number 5, Christmas Hope??

We just got E's 5th semen analysis back and we are SO confused! I have been shoving supplements down E's throat  encouraging E to take FertilAid for Men, Count Boost for Men and Motility Boost for Men for the past few months and I can't believe they might actually be working. Keep in mind E's hormone levels have always been perfect, so its not like the supplements could correct something that wasn't broken, and we still don't have the results of his genetic testing yet, but look!

SA 1 at Lab A: 0.65 million, 0 motility
SA 2 at Lab B: 0
SA 3 at Lab C: 0
SA 4 at Lab C: 10 million, 0 motility
SA 5 at Lab C: 23 million, 0 motility

Again his doctor doesn't seem to be too enthused, he ordered another SA for him and said we should focus on my procedures tomorrow. The motility is still, and has always been, 0 and the morphology is always N/A, I think because they're don't grade them if they're not moving. We're trying not to get our hopes up since 23 million dead sperm are no more useful than 1 dead sperm, and they might still be genetically defective, but we're so so glad to see the number moving impossibly upwards!

Tomorrow is the HSG and saline ultrasound, I'm not expecting to see anything wrong on either test so hopefully our goodish news streak will continue. 

Merry Christmas Everyone!

Lab Results!

On Saturday we returned to the Kaiser lab for our multitude of tests. E submitted another semen sample and gave another 3 vials of blood, and I had the extreme pleasure of giving 11 vials of blood. The experience could have been horrible, but I got a wonderful tech who found the vein on the first try, even though she couldn't feel it. I'm so grateful for techs like her :)

Now that a couple days have gone by, the early results are starting to trickle in.  My TSH has come down to just below 2.5, which is still high for me but not as bad as we thought it was. It also turns out that I have the exact opposite blood type that I was told I have by Kaiser. In high school I donated blood at Kaiser for my grandmother's surgery, and a few days later was given a little card with my name and blood type on it. For over 10 years I've been living my life and telling doctors that I'm B- when, according to the newest test, I am actually A+. Mind blown. I'm not sure how a mistake could have been made at the blood bank, since I'm assuming my most recent test is accurate, but it will be nice to not need the RhoGam shot if/when we do get pregnant. I'm still waiting on the results of the other lab tests but they'll probably take a few weeks.

In even bigger news, we got E's 4th SA back and the results were totally startling! So far we've had a 0.65 million, a 0, another 0, and this last one showed 10 million! There was still no sign of any motility so we still don't know if we can obtain anything usable but the numbers were so shocking that E didn't believe them. Our doctor has suggested that its a one time fluke and we shouldn't get our hopes up but I've got my fingers crossed. We've been supplementing the crap out of his sperm with FertilAid for Men, Count Boost and Motile Boost and it would be great to know that they're actually working. His next SA, number 5, is on the 23rd and my tests are on the 26th so we're keeping our fingers crossed. 

New RE = More Tests

So after waiting over a month for the urology appointment, the Kaiser system worked a little faster and we were able to get in to see the RE on Black Friday. My overall impression of her was positive, she allowed us to share our story and explain where we are and agreed with most of our assumptions and concerns. For me, she ordered more lab work as well as a saline ultrasound and a hysterosalpingogram. For E, another couple lab tests. Once we begin the procedure for IVF, Kaiser will no longer cover anything so she would like to cover all our bases now.

I will have to go in for my labs on Monday and pick up a course of antibiotics for the hysterosalpingogram since E had to get to work on Friday and we didn't have time. The RE said she very rarely has a case where they can't find any reason at all for male infertility and thinks E might have a microdeletion on his Y chromosome. If he does, the location will play a big part in whether we're able to retrieve viable sperm. And, if we can get viable sperm that produces viable embryos, we will have to have PGD to select for female embryos since any male children will inherit the same deletion.

However, given the information we have thus far, it's likely that we're going to have to use a donor. The RE does agree that I have diminished ovarian reserve and is very concerned that we may have a rapidly closing window to retrieve viable eggs. There was also some confusion over my AFC, during the appointment the RE at the fertility clinic told me 3 and 4 follies for a total of 7. However, the paperwork he faxed over said 3 and 7 for a total of 10, which while it would be AMAZING, doesn't match up with my FSH or my memory. Regardless, the new RE is concerned that in a couple years I will not have any eggs left.

Given that prognosis, we need to think seriously about the IVF vs IUI decision. Kaiser would pay for an IUI, which would be much less invasive and inexpensive. If we were successful, it would probably be at least 2 years before we tried for a second child and by then I might be completely out of eggs. If I did still have high quality eggs left for siblings, we would need to store our donor of choice and do IUI again. If we do IVF now, it will be entirely out of pocket, more invasive and expensive, but will hopefully yield enough embryos that we can freeze some and use them for a second and/maybe third child. It would also mean we would have the same donor for all our children since the embryos would all be made at once.

We've been talking back and forth about it and have just started to casually look at donors online. We won't have DH's results for another month since they have to grow the genetic test in culture, but they probably won't be good. In the meantime, the RE wants me to take DHEA three times a day, keep taking a prenatal and see if I can get my thyroid levels down. While all my tests for the past 10 years have been below or around 1,  my last one was 3. Although it's still technically normal, numbers over 2.5 are associated with much higher rates of miscarriage so I'm going to need to do something about that.

Going back to go forward

The end of November is here and E finally got the chance to see the new urologist. I, of course, had jury duty all day so he had to go by himself. We arranged to keep me on speakerphone, since facetime wasn't private enough, so I could at least listen in on the appointment and hear everything first hand. It was quite awkward pacing the courthouse halls talking about motility, count and the failure of my ovaries, but I'm glad I got to participate.

Even though we've run a whole host of tests, this new urologist wants two more semen analysis tests and another set of labs. E started the blood work and we have a specific schedule for the SAs, I think they're going to be more detailed tests this time. Our last Kaiser SA reported 0 as "less than 2 million" so the new urologist thinks it wasn't a sensitive enough test. Like just about everything in the infertility process thus far, it could turn out to be a good thing or a bad thing.

E might not have a 0 count which would mean he can produce sperm which would be amazing! However it would also mean that there isn't something correctable like a blockage that we could reverse easily to get him to a normal count. There's also the concern about motility though, which suggests that the sperm he's producing isn't viable. It all points to IVF again, so while the particulars have changed, I think the end result is the same. 

Our next appointment is for me on the 29th. I think it's going to be another general "this is how the infertility process goes, these are the tests we run" even though we have already had that conversation with several different doctors. At least I was able to get our records faxed over.

I know the infertility process isn't going to be easy, but I sure wish it was less repetitive.

E Update

After lots and lots of anxious waiting, E's results are in. His lab work was absolutely and completely normal, I'm actually pretty jealous of his FSH level, it was way way better than mine. Unfortunately, or fortunately? his third semen analysis came back at a zero. We aren't sure if this indicates a partial blockage, which would be fixable with microsurgery, or a genetic problem like a lack of the cells that produce sperm.

The next step is a biopsy to see if there are any viable sperm in there. You'd think since all the medical professionals agree on this course of action, that it wouldn't be too difficult to move forward. Unfortunately, you'd be wrong. E can't proceed with his biopsy with his current urologist, he needs a specialist in the urology department at a different Kaiser.  After E's results came in, his urologist said he was referring us to this new urologist. Then, he accidentally forgot to put through the referral before he went on vacation. In the two weeks it took E's urologist to get back from vacation, almost the entire month of November filled up :( We were expecting this so I had tried to schedule the appointment sooner, as both the current urologist's nurse and the new urologist's nurse knew the referral was supposed to be sent, but it was no good.

Now that the referral is finally in, the new urologist's office refused to schedule the appointment because our insurance still shows no infertility coverage. I had to explain that the new coverage is coming and argue with three different people before they agreed to make the appointment.
E has his next appointment on November 25^th, which also happens to be the day I have jury duty and we'll have guests from out of town >_< I expect it will be another consultation instead of the biopsy he's supposed to be having so at least it won't slow him too down too much.

We did get the good news that our new insurance should be in effect as of November 1st but it didn't come quite fast enough to stop the payments for our individual plans. I also called on the first to confirm the new plans and cancel the individual ones, and they had no record of the new ones. I'm assuming it takes a little while for all the paperwork to be processed on their end, but it sure isn't making things easy and the waiting is driving me nuts.