A Helpful Form to Prepare For Preconception Genetic Testing

Genetic testing prior to conception can easily identify known genetic risks prior to conception. This is important because many of the inherited diseases which can be fatal in childhood can now be easily avoided, if you know your risks and the options for conception without passing along fatal genes.

Some of these diseases include:

Cystic Fibrosis

Cystic fibrosis is a life-threatening, genetic disease that causes persistent lung infections and progressively limits the ability to breathe. In people with CF, a defective gene causes a thick, buildup of mucus in the lungs, pancreas and other organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.

Info from the Cystic Fibrosis Foundation

Tay-Sachs

A baby with Tay-Sachs disease appears healthy at birth, and seems to be developing normally for a few months. Symptoms generally appear by six months of age. While symptoms vary from one child to the next, there is always a slowing down of development. Gradually, Tay-Sachs children lose motor skills and mental functions. Over time, the child becomes blind, deaf, mentally retarded, paralyzed and non responsive to the environment. Tay-Sachs children usually die by age five.

Children with Tay-Sachs disease lack a vital enzyme, hexosaminidase A (Hex-A). Hex-A is needed for the body to break down a fatty waste substance found in brain cells. Without Hex-A, this substance accumulates abnormally and causes progressive damage until the nervous system can no longer sustain life.

Info from National Tay-Sachs & Allied Diseases

Sickle Cell Disease

Sickle cell disease is an inherited blood disorder that affects red blood cells. People with sickle cell disease have red blood cells that contain mostly hemoglobin* S, an abnormal type of hemoglobin. Sometimes these red blood cells become sickle-shaped (crescent shaped) and have difficulty passing through small blood vessels.

When sickle-shaped cells block small blood vessels, less blood can each that part of the body. Tissue that does not receive a normal blood flow eventually becomes damaged. This is what causes the complications of sickle cell disease. There is currently no universal cure for sickle cell disease.

Info from Sickle Cell Disease Association of America

These diseases are inherited if both parents carry the recessive gene associated with that specific disease. As a review from freshman year biology class, here is a refresher on Punnett Squares:

If both parents are carriers, they will show no symptoms of the disease. Each time they naturally conceive a child that baby will have the following risks:

• 25% chance of being "RR," meaning they inherited both dominant copies of the gene from their parents. They will have 0% chance of passing along that trait to their future offspring. 
• 50% chance of being "Rr," meaning they inherited one copy of the recessive trait. While these children will not develop the disease, they will have a 50% chance of passing this trait along to their offspring. 
• 25% chance of being "rr," meaning they inherited the disease. What this means is different for each illness. Some illnesses (e.g., Tay-Sachs, Canavan Disease) are almost always fatal in infancy/toddlerhood. Others (e.g., Cystic Fibrosis) may lead to an overall shortened lifespan, but with proper treatment and management the individual often survives to early adulthood. 

The most important step you can take prior to conception is knowing your risks and possibly requesting testing prior to conception. 

Here is a form I created to help you determine which disease(s) you may be at risk for -- this form should not take the place of medical advice, but should be used as a beginning step in discussing your risk factors with your gynecologist prior to trying to conceive.

Click here to access the form

Best of luck on your journey to conceiving a healthy baby!

Feeling Surreal

A quick update on my health and progress, since I realized I had not updated since our meeting with the reproductive endocrinologist over a month ago. We actually received the bill for that visit today and figured that was the best reminder to update the blog!

Starting the Cabergoline

I have finally started the cabergoline, the medication to lower my serum prolactin level which should in turn shorten my cycles and ensure I am consistently ovulating each cycle. The prescription was a little delayed because the interpreted results of my MRI were not forwarded to the reproductive endocrinologist prior to the appointment. The MRI office had provided me with a DVD of my scans, but without the interpretation attached he could not give me a definitive diagnosis. We received confirmation of the microprolactinoma a few days later, then it took another few days for my doctor's office to get the prescription forwarded to the pharmacy. I went to Target that night to pick up the prescription, but the pharmacist informed me that they do not regularly stock cabergoline and it would have to be specially ordered in. Also, I only needed 4 pills (I take 1/2 pill each dose, with 2 doses/week) for a month's prescription. The bottles come with a minimum of 8 pills, so I had to purchase a 2-month supply. This was a little disappointing just because it means I will always have to purchase a 2-month supply when requesting a refill, unless my dose increases. Currently, I am taking 0.25mg every Monday and Thursday. Any guess how much this cost me? Luckily, I found a coupon through the website GoodRx.com, but even with that coupon I ended up paying over $100 for the two-month supply. For 8 pills! I strongly recommend using that website to search for coupons and compare prices. The website informed me that the cost varied widely by pharmacy, and that the same dose would have cost $367 (!!!!) at Walgreens without the coupon. The good news is that I have not had any negative side effects from the cabergoline.

Feeling Surreal -- Sharing the TTC Journey

Recently, two close friends asked us about when we thought we would try to conceive. Since we have been married 6 1/2 years now, the question comes up fairly regularly. Although we are not sharing information with most people, we decided to disclose the TTC status to two close friends. They both have children and will be an excellent resource for telling before we reveal a pregnancy to the world. I was actually shocked to see how excited they were to find out that we were trying to conceive. It felt exciting and also somewhat relieving to share that we are officially "Trying." We have only had two cycles so far (technically, we're now on cycle 3), but it still feels nice to have support.

The one thing that may be challenging is those two couples had a relatively easy time conceiving. Hopefully, that will also be the case for us now that I have started the cabergoline! But there is still definitely the possibility of having other underlying issues causing infertility. I have been reading two TTC blogs of two women we coincidentally went to high school with and I can't help but feel frustrated, angry, and sad for them each time they share about another failed cycle. One of them is currently prepping for IVF. I had no appreciation of the time, expense, and the toll of the drugs necessary for IVF actually are until I started reading about infertility issues. If we ever needed to go that route, it would take us awhile to save the $10,000-$15,000 necessary for just one cycle! Sending positive vibes that the upcoming IVF cycle will be successful for that couple.

Also, I'm listening to Pandora and the song "Dream" came on. Fits this post well!

I was a little girl alone in my little world who dreamed of a little home for me.

I played pretend between the trees, and fed my house guests bark and leaves, and laughed in my pretty bed of green.

I had a dream

I could fly from the highest swing.

I had a dream.

Long walks in the dark through woods grown behind the park, 

I asked God who I'm supposed to be.

The stars smiled down on me, God answered in silent reverie.
I said a prayer and fell asleep.

Lemon Buckwheat-Vegetable Soup -- Great TTC Recipe!

This installment of the Simple Saturday Project is actually a recipe. I know what you're thinking -- buckwheat?! Before you totally rule this one out, read below the recipe to see why buckwheat is an excellent TTC food for both women and men.

Ingredients:

Olive oil

1 carrot, diced1 celery stalk, diced1 small onion, diced
1/2 teaspoon sea salt6 cups chicken (or vegetable) broth1 small yellow summer squash, diced1/4 cup buckwheat, rinsed and drained2 wide strips of lemon rind (removed with a vegetable peeler)
1/2 lemonFreshly ground black pepper
Optional: Grated parmesan cheese

1. In a large stockpot, heat olive oil over medium heat. Add carrot, celery, onion and salt, cook for 5 minutes.
2. Stir in the broth, yellow squash, barley, and lemon rind strips. Carefully squeeze the 1/2 lemon into the pot, while being careful to keep the seeds from falling in. Bring to a boil. Simmer, uncovered, until the vegetables and barley are tender (about 20 minutes). Discard the lemon rind and season with salt and pepper to taste. Top with parmesan cheese once served into individual bowls, if desired.
3. Enjoy! We both gave this recipe a big thumbs up.

Why Buckwheat?

Packed with B vitamins, it is an ideal food to support fertility and energy levels. It is a good source of thiamin, riboflavin, and folate. It also helps to naturally lower blood sugar. Due to all the amino acids it has, it helps with blood flow and can assist with implantation. It is not only good for TTC, but also a great option for the first few weeks of pregnancy when you should be boosting folate intake to support that growing spinal cord and brain. Since it is also an energy-booster, it is also great to combat that early pregnancy fatigue. 

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.