Wednesday, January 6, 2016

The MRI Scan Experience

*Not my brain -- borrowed from www.mstrust.org.uk

Yesterday, I had my MRI scan to rule out a pituitary adenoma. I had never experienced an MRI scan before so this was a brand new experience. I thought I would make a post to document what the experience was like. 

When I made the appointment, the MRI office mailed me a packet of paperwork to complete. Due to the strong magnetic field used to create the images, I had to verify that I had no wire implants, mesh, or other metal pieces that would potentially dislodge or otherwise be affected by the strong magnetic field. I do have a metal wire bonded to my bottom teeth (permanent retainer from when I had braces) but called in advance to make sure the bonded wire would not present a problem. I was also instructed to not wear any clothing with metal zippers, buckles or fibers. I opted for a dress (no zipper).

Once I arrived, the tech informed me the scan would be performed both with and without contrast. My doctor who ordered the test told me it was just without contrast so this was a bit of a surprise. I was then situated on the MRI table. My head was placed in a sort of metal bowl. A cage was then placed over my head to immobilize my head for the scan. Two pads were added to either side of my face to hold my head in the same position throughout the scan. While I couldn't move my head, the cage had large holes so I could still see.

The scan took about 90 minutes in total. The first 60 minutes were without contrast. The MRI machine is very loud with buzzing, clanging and chirping sounds and the tech forgot to turn on the music in the room for the first 30 minutes. Without the music, time seemed to drag by while I focused on trying not to move. Then the nurse came in to insert an IV with the contrast solution. After the contrast, I had a bit of vertigo -- try lying completely still while feeling dizzy! Luckily the dizziness subsided fairly quickly.

I was provided with a CD copy of my images to take to the reproductive endocrinologist. I'll update in a few days after my doctor's appointment to share what we learned from the MRI.


Monday, November 30, 2015

A completely unexpected diagnosis...

As I discussed in our previous post, I had a follow-up visit with my gynecologist to discuss my blood test results. Fully expecting to receive a diagnosis of PCOS, I was very surprised to find out that my ultrasound was completely normal and my blood work was all within the normal range, with the exception of my prolactin level. I was officially diagnosed with "Hyperprolactinemia" (fancy term for elevated prolactin level). This likely explains my irregular cycles.

What causes prolactinemia?
There are a few different reasons why the level might be elevated. One of the reasons can be an enlargement of the pituitary gland or a pituitary adenoma. Due to that, I have to have an MRI to rule-out this possibility. I'm waiting on my doctor to complete the pre-authorization process with my insurance company to get the MRI scheduled.

I have also been referred to work with a reproductive endocrinologist. I really like my gynecologist -- the doctor she has referred me to is the endocrinologist who helped her with her own infertility issues.

...Infertility?
Yeah... there really is no sugar-coating the fact that an elevated prolactin level suppresses ovulation. And, if I have a pituitary adenoma, it can make pregnancy more complicated (pregnancy hormones can cause the tumor to grow). I honestly thought I had PCOS, but that is often resolved with fairly simple medication to achieve pregnancy. This is a potentially more complicated diagnosis.

I hope this MRI can be scheduled soon, just so that I can meet with the reproductive endocrinologist soon.

I'm honestly feeling fairly defeated today. Pregnancy has been a constant and happy discussion in our home. Several of our friends have recently welcomed new babies or announced pregnancies. Of course, it is hard to not get caught up in the "why me?" and "why us?" We are also trying to avoid jumping to conclusions or relying on Google for answers before meeting with a specialist.

I will likely post again after I feel like I have my own emotions processed a little more around this situation.




Sunday, November 29, 2015

Rule Out: Polycystic Ovary Syndrome (Part 1)

Well this post is not an easy one to write, but necessary to document our journey to parenthood. We also questioned about posting about it -- we aren't sure if we would ever share this blog with people we know (i.e., our parents, siblings), but we want to make sure anything we share here is something we would feel comfortable sharing with those people. Therefore, we will be limited in the healthcare information we share. Some people feel fully comfortable in sharing intimate details of their TTC journey -- things like temperature charts that include things like cervical mucus charting. That's great some people can be so open about things, but we think some things should remain private.

That said, we are currently waiting on a diagnosis to explain A's irregular cycles. A had a regular check-up in September and she shared a concern with her doctor that she could have PCOS, based on irregular cycles. A has some of the symptoms, but not all (e.g., it is a condition often considered for women who have trouble losing weight, while A has trouble gaining weight). However, PCOS can still occur in slim women.

What is PCOS?
From the PCOS Foundation: PCOS (Polycystic Ovary Syndrome) is the most common endocrine disorder in females. There are many signs and symptoms that a woman may experience. PCOS cannot be diagnosed with one test alone and symptoms vary from female to female. Early diagnosis of PCOS is essential since it has been linked to an increased risk of developing several metabolic diseases such as diabetes and high cholesterol.

A's diagnostic testing included an ultrasound and extensive blood tests. We have the preliminary results from the ultrasound, which indicated she was in the "very high" range of follicles. While this does not definitively confirm a PCOS diagnosis, it is consistent with hallmark signs of PCOS.

I received a call from the doctor to indicate that something came up "abnormal" in the blood test and the doctor would like to meet with her to discuss this further. I have a doctor's appointment scheduled for Monday (November 30th) to find out what showed up in the blood test. While I am feeling a little nervous, my gut feeling is that the blood test is just confirming the PCOS diagnosis I had already suspected.

What would it mean if I have PCOS?
PCOS involves an increased level of testosterone, which can suppress ovulation. This means that even though I am having cycles, the irregularity of the cycles may mean they are anovulatory cycles. If I'm not ovulating, that means we will have a much harder road to achieving a natural pregnancy.

If I do have PCOS, the likely recommendation will be the use of medication to achieve normal ovulation. This involves the use of medications such as Clomid or Femara. While women with PCOS often successfully conceive with the use of these medications, there are many possible side effects associated with those medications.

One of the side effects to consider is the increased potential for conceiving multiples. The reason for this is because when ovulation is artificially stimulated through medication, multiple eggs can be released. The risk of multiples is about 1 in 10 pregnancies achieved through this medication, compared to 1 in 100 of pregnancies occurring without medication to stimulate ovulation.

Watch for an update tomorrow after the appointment.



Saturday, October 24, 2015

Pre-Conception Genetic Testing (Part 2)

The results are in! After a short wait, we received a 7-page report detailing C's genetic testing results (see part 1 here).

Here's a copy of one page of the report we received with identifying information redacted:
You can see under "clinical notes" that we requested the screen because C's family has a known history of Tay-Sachs. C ended up not being a carrier of Tay-Sachs, but is a carrier for 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia.

The recessive trait C carries is the "non-classic" type, which is the least severe genetic strain. Affected children would produce excess androgen, which may put them at risk of decreased fertility (and this would only be the case if A also carries the exact same strain, which is rare). This disease does not have major health implications and is non-fatal. Therefore, we would not seek the cost of pre-implantation testing and IVF to avoid the possibility of children inheriting this trait -- a choice we would have made if we were both carriers of diseases with high risk of morbidity and mortality, such as Tay Sachs or Cystic Fibrosis.

We were very interested to read all of the disorders C was actually tested for. Targeted DNA mutation analysis was used to simultaneously determine the genotype of 394 variants associated with 100 diseases.

In terms of next steps, this test basically served as a "green light" to conceive when we are ready. We both feel relieved and very grateful that C is not a carrier for a fatal genetic disease.

Based on our experience with JScreen, we highly recommend them for pre-conception genetic testing!


Tuesday, October 13, 2015

Eating Healthy, Easy Recipe


As we are beginning to plan improving our health prior to pregnancy, we are looking to increase easy and healthy options we are eating. This one is great because all of the ingredients are fresh and healthy, including the pasta (it's whole-wheat!). Plus, this recipe is so quick to throw together -- eating healthy is definitely easier when it is fast.

Ingredients:
13 oz. Whole-wheat spaghetti
10oz. Grape or cherry tomatoes 
1 Thinly-sliced white onion
3 Garlic cloves, thinly sliced
1/2 tsp. Red-pepper flakes
4 Fresh basil leaves, chopped
2 T Extra-virgin olive oil
1 teaspoon Sea salt
1/4 teaspoon Black pepper
5 cups Water
Parmesan cheese

1. Use a large, straight-sided skillet with room to hold the liquid for this recipe. Combine spaghetti, tomatoes, onion, garlic, red-pepper flakes, basil, oil, salt, pepper and water. Turn on high heat and bring the pot to a boil. Remember to stir this mixture frequently, as the spaghetti will quickly stick to the bottom of the pan on high heat. Boil for approximately 9 minutes, until the water is mostly evaporated and the spaghetti is cooked. 

2. Serve immediately in bowls. Top with parmesan cheese.

That's it! 

We also recommend adding chopped mushrooms or bell peppers to add even more texture and flavor. Try it out and comment to let us know what you thought!

Thursday, October 8, 2015

Pre-Conception Genetic Testing (Part 1)

We have known since the time we were first married that we would be seeking pre-conception genetic testing. C's family has a history of carrying Tay Sachs Disease. Due to his Ashkenazi (eastern and central European) Jewish heritage, we knew that this increases the risk that he carries several recessive genetic disorders in addition to Tay Sachs, including Cystic Fibrosis (1 in 24 Ashkenazi Jews carries this recessive trait), Gaucher Disease (1 in 15), and Niemann-Pick (1 in 115). 

As we began our journey to prepare for pregnancy, we researched different options for completing the process for completing this genetic testing. We learned that for insurance to cover it, C would be tested first. If his test reveals that he is a carrier of any recessive genetic disease, A will then complete her own test to see if she also carries the trait.
We chose to go through the company JScreen for the pre-conception testing. Our kit arrived just a few days ago -- we took a few pictures so you could see what the kit looks like:




The tube in the picture here is for saliva collection. Once filled with saliva, the top of the cap has a solution to stabilize the saliva for shipping (this is released when the tube is sealed).

Here is a close-up of the instructions on the lid of the box.

We received confirmation that C's saliva sample was received by the lab this week. JScreen then sent him a "quiz" to make sure he understands the basics about recessive traits in case anything comes up positive. If any of the diseases are positive in his panel, we also have to meet with a genetic counselor.

Watch for Part 2 once we receive the results!

Monday, September 14, 2015

A letter to our future child(ren)

Dear future child(ren),

At this point in our lives, you are considered a "twinkle" in our eyes. Despite your status as not-yet-conceived, your father and I discuss you daily. I'd be lying if I said we didn't dream about you often. When we're at the park, we quietly talk about what it will be like when you are here to push in a stroller, catch at the end of the slide, and give "under dogs" on the swings.

Underneath that, we wonder about how you are going to bring your own sense of self into our team. In six years of marriage, if we've learned any sage advice worth passing along, it is that we are strongest as a family when we approach challenges and struggles as a team. Celebrations also mean more when you share them as a team.

Our team is very curious to know what kind of factors you will bring to the team. We know your early days may challenge the existing team a bit. We hope we have the endurance and teamwork to work through the early days of sleepless nights, seemingly-endless diaper changes, and hours of bouncing, swinging, rocking and soothing. We are also told that it is during these sleepless nights that we will also begin getting to really know you and witness your little personality emerging. I hope we have the right bounces and lullabies to soothe you. I hope we give you a sense of warmth and security. Most of all, I hope you feel fully welcomed into the team. I know it will be a process of getting to know you, but I hope you give us a little grace as we slowly learn what you like and what you need.

We can't wait to see our littlest team member begin to gain a little sense of independence. We know it will be hard at first to let go of little hands as you take your first unsteady steps. We hope you will let us know when it is safe to let you go. We can't wait to plan adventures. We're also big on stories, so I hope books and imaginative play are cool with you. We also love kids movies and museums -- we're glad you'll finally give us an excuse to go have fun, without looking like those two weird childless adults in the theater.

I wonder what you will be like as you start school. What your favorite subjects will be, and which ones will be your least favorite. If you'll be disciplined about finishing your homework after school or will need constant reminders. Although your father and I didn't get ourselves in too much trouble, I know we may need to field a phone call or two from your teachers. I hope we have the problem-solving skills to help you navigate whatever comes into your path. One bonus you have with our team -- your mom has reading and writing covered, while your dad is great at math. Be patient with us when you have to explain lessons to us. Although our team is enthusiastic, we will have forgotten a few of the things you're bringing home for homework. Google is everyone's best friend in that situation.

As you enter high school, we will probably be understandably shocked when you go on your first date at 15, and realize that I was that ripe old age when I started dating your father. Although we will only joke about locking you in the attic until you're 30, we will be equal parts scared and ecstatic when that time comes. I hope you know that we will want to ask a few questions of your date and get to know him or her a bit -- and you'll think we're doing this just to embarrass you. We'll be just as worried that we're making fools out of ourselves by asking questions but we know we have to do what we can to ensure your safety. While at the same time rapidly continuing to help you construct sturdy wings to flee our nest. There is no manual for this. We will make mistakes. We don't make any promises to be the "cool" parents, but we will be there -- always -- when you need us.

We know you will make mistakes, too. And we will search our hearts and minds to balance our worries with your yearning for independence. We hope we can deliver those hard conversations successfully. You'll probably go through a period of hating us and thinking we haven't done enough. This will understandably break our hearts. Your mother will know this is the painful growing process of individuation, but I promise you she will shed a few quiet tears about it anyway. We will wait up for you when you're out with friends, partly because we're worried and because we hope you'll share stories with us when you come home. We will be thrilled when you still express interest in participating in family activities, even when we know you'd rather be with friends.

Then the day will come to move you away to college. Since you're still a twinkle in our eyes, I wonder how long this will be from now -- 18 years? 20? 18 years seems like such a short time to enjoy your youth while also preparing you for the next 70+ years of life that lies ahead of you. We will move you into your dorm, gathering all of the parent info cards, making sure to talk to your RA and finding out about all of the resources on campus. We will put on a brave and confident face for you that day and try to save our tears for when it's just the two of us on the long drive back home.

Did you know we have talked about these dreams for each phase of your life before you're even here? We wonder how your life will play out. We know you will teach us more about development and ourselves than we could even pretend to know now. It feels like so much pressure to plan for the next 18 years without even getting to know you first. Maybe you'll figure out college isn't in the cards for you. Maybe you'll be born with something unique about you which radically changes the original script we set for your life in the "you will... and I will... and we will..." conversations your father and I have had on long drives, and in the park, and while waiting at the airport.

You are not even conceived yet, but we talk about you so often. We hope we're ready to be your parents. We both have wellness visits scheduled with our doctors to begin planning the process to start our family. Which feels very scary.

We've planned for you for the past 13 years we have been together. But being this close to meeting you feels like we've entered completely brand-new territory. We know you will challenge us, turn our hair gray, and pull from us a sense of love and purpose that we cannot even begin to understand at the present moment.

We're ready to add a new addition to our team. We're waiting. We hope to see two little pink lines soon, but we also know that the best things in life are worth waiting for.

With Love, Your Anxious Parents