Diagnosis & The Endocrinologist

On Wednesday, we met with the reproductive endocrinologist for the first time. Our local clinic is one of the Boston IVF clinics (Here's a link to all of their clinic locations across the U.S.). My gynecologist actually dealt with infertility herself and referred me to the same endocrinologist she personally worked with. We are not actually classified as dealing with "infertility," as that requires six months of trying without conceiving to be diagnosed. This actually works to our advantage in this instance for billing purposes, as insurance will cover treatment for hyperprolactinemia but not infertility. I knew this, which is why I wanted a diagnosis and treatment before those magic 6 months passed. 

Prior to our appointment, we had a long list of information to complete online. Known family history of genetic abnormalities, infertility, multiple miscarriages, etc., as well as a laundry list of possible health conditions for both of us. The very good news is that we have no other known health conditions. We've both had blood work in the last three months and received a clean bill of health. Thyroids functioning normally (very good news on both fronts for conceiving) and no signs of chronic health conditions.

Confirmation of Prolactinoma

As my gynecologist had initially suspected, I have a microprolactinoma. Also called a pituitary adenoma, this is a small, benign tumor (mine is 5mm, anything 10mm or below is considered "micro") on the pituitary gland that secretes excess prolactin. The great news is that it is not a macroadenoma, which may have required surgery. I found the above image in a Google search to show how close the pituitary glad is located to the optic chiasm. In the case of a macroadenoma, it can press on the optic chiasm and cause visual disturbances. We are very happy this is not the case! 

We are not sure how long I have had a prolactinoma, as my cycles have always been irregular whenever I was not taking birth control. I may have been born with it, or may have had it since I first started menstruating as a young teenager. 

While this benign tumor is not likely to cause major health issues, the excess prolactin will negatively impact my ability to ovulate every month. Although this does not mean every cycle is anovulatory (a cycle in which the ovaries fail to release an egg), there is a good likelihood that I'm at least not ovulating some of the time. Without treating the prolactinoma, my cycles would remain irregular and it would likely take an extended period of time to successfully conceive. 

Treatment Planning

In treating a prolactinoma, there are two medication options to shrink the tumor and limit its release of excess prolactin. The older medicine is bromocriptine (Parlodel) and would be taken daily. Bromocriptine has a high incidence of adverse side effects (78% of patients) in the variety of nausea, headaches, dizziness and vomiting. Additionally, the research suggests it is at least somewhat less effective than a newer drug available.

The other option, cabergoline (Dostinex), is better tolerated than bromocriptine (68% of women reported adverse effects) and the pill only needs to be taken twice weekly (Source). Collaboratively, we agreed that cabergoline was the drug of choice. The only downside is that cabergoline is more expensive. Although the cost per pill is significantly higher, the overall monthly cost is hardly noticeable -- $20 more per month for cabergoline. I'm willing to pay that difference to have a more effective and better-tolerated medication!

Here's a comparison of how each of these medications treats the excess level of prolactin:

(Source)

A quick glance at this chart shows cabergoline would be expected to quickly drop my serum prolactin level within 4 weeks. Once my prolactin level dropped below 20, we would anticipate it would also be much more likely that I would ovulate every month. 

I will begin my treatment with cabergoline next week and will plan to chronicle my progress here. I will also have a follow-up MRI in 6 months to determine if the cabergoline successfully shrunk the prolactinoma. I really like the endocrinologist we were referred to, and will create a separate post of what else the endocrinologist recommended outside of treating my prolactinoma. 

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.

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.

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.

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!

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!

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!