Monday, September 27, 2010

Mom to Luke Michael
April 7th, 2010
and Baby #2, October 4th, 2010
Atlanta, Georgia

  In 1987, when I was about 7 years old, I attended my cousin's funeral. My mom had explained to me that my cousin, Amanda, did not have a normal brain and therefore passed away in her mommy's tummy. I wasn't phased by this information; rather, I was more interested in the funeral ending so I could go play on the church's playground. Little did I know that 23 years later, I would be told that my son had the same fatal birth defect that claimed Amanda's life. Lightening struck twice in our family.

After marrying in 2007, my husband and I were anxious to start a family. Unfortunately, nature had other plans. It would take two and a half years, multiple doctor office visits, blood tests, pills, shots, and ultrasounds before we saw two pink lines staring back at us on a home pregnancy test. Our January IUI had worked! We were beyond elated, and so were our families, as it was to be the first (and long awaited) grandchild on either side of the family. I was very much ready to welcome all the pregnancy symptoms, as pregnancy was a dream that we worked so hard to achieve. I wanted to experience and enjoy every second of being pregnant.

However, I was one of the lucky ones who breezed through the first trimester without experiencing morning sickness, tiredness, breast soreness, or any of the other "bad" symptoms of pregnancy. The only symptom I had was round ligament pains. Due to my lack of classic pregnancy symptoms, I was scared of a missed miscarriage. However, my betas rose at the appropriate level, and our baby was actually measuring two days ahead on the ultrasound with a textbook perfect heart rate. Little did I know that a missed miscarriage would be the least of my worries.
A few months later, in April, I went in for another ultrasound. My husband could not go with me, so I went by myself, thinking it would be like the previous appointments. After the ultrasound probe was in place, I asked the ultrasound tech if there was a heart rate. "Yes", she replied. I breathed a sigh of relief. I anticipated that the tech would give more information about the heart rate and status of the baby, but she didn't. I waited a moment then asked her, "What is the heart rate?". She told me it was 160, but not to ask anymore questions as she was concentrating on doing the ultrasound.
The ultrasound seemed to last forever. Then she turned the screen towards me and said "Do you see this (pointing at the baby's head)? I should see white lines indicating bones, but your baby doesn't have any." I asked her if the skull bones form later. She answered, "no" and told me very bluntly that our baby was "incompatible with life". I saw her type "ancephaly" [sic] on the ultrasound keypad. I didn't know what that word meant, and didn't even make the connection that my child's lack of skull bones was indicative of the same issue that my cousin had, 23 years earlier. The ultrasound tech then left the room to get the doctor. I couldn't move. My world had come crashing down around me and it felt like my heart was being pierced by 10,000 knives.
She returned to the room a short time later with the doctor who explained to me what anencephaly was (a fatal neural tube defect where the top of the neural tube does not close, leading to malformation of the brain and skull.) The doctor then sent me across the street to the hospital where a MFM doctor would do another ultrasound for a second opinion. I called my husband and told him through the tears that our baby didn't have a skull and to meet me at the MFM.
I walked across the street to the hospital where the MFM was and checked in at the front desk with tears running down my face. The receptionist cheerfully said "Hopefully these are good tears of joy!" I responded that they weren't and put my sunglasses over my eyes to signal that the matter was not open for discussion.
As I waited to be processed, I watched people come and go. I thought how weird it felt that everyone in the room was going about their normal day, when for me, it was the end of everything. My life would never be the same. All of our hopes and dreams for the last the last two and half years were crushed. Thankfully, my husband arrived shortly afterwards. He put his arm around my waist and supported me as we walked to the MFM office together. The MFM doctor displayed the ultrasound on a large overhead projector screen. We saw our baby bouncing all around, waving its little arms. Then, the doctor alternated between the belly ultrasound wand and the vaginal ultrasound wand trying to get a better picture of our baby's head. A mass that looked like a Mickey Mouse outline appeared. The doctor put his hand on my arm and told me gently that "Today is not going to have a good outcome." He explained that without a skull to hold the brain matter in, at this point in gestation, our baby's basic brain tissue was more so just floating, resembling a Mickey Mouse pancake.
My husband and I did a lot of soul-searching those next few days. We knew what our options were: terminate the pregnancy or carry to term. We never anticipated having to entertain the idea of pregnancy termination; especially not for a pregnancy we spent so much time, effort, and money to achieve. However, I learned that once we were in that situation, the lines around the phrase "I would never" became blurred.

There would be risks opting to carry to term, as anecephalic babies do not always gestate like their healthy counterparts. The chance of us being able to hold a living child in our arms, if even for a few minutes, was low. "Instead," the MFM doctor informed us, "many anencephalic children die while still in the womb during the third trimester", just like my cousin did. For us, the risks were too great to try carry to term for a baby that would not come home with us.

Therefore, we elected to turn off life support and end the pregnancy. We did not come to that decision lightly, and it is the worst decision a parent ever has to make. Despite how painful that decision was, I know it my heart it was the right and humane thing to do, both for our child and ourselves. We knew our child's life would end this year. The only thing that changed was the day. After the pregnancy was terminated, we learned that our precious child was a boy. We named him Luke Michael.
Since then, I have been diagnosed as having a MTHFR mutation, carrying two copies of the C677T gene. This mutation means that I cannot process folic acid like someone can who does not have this mutation. I am now on 8mg of converted folic acid a day (8-10 times the amount that is in a prenatal vitamin) to minimize my chances of having another child in the future with a neural tube defect.

In September 2010, we went through IUI#4. Happily, this IUI was successful and resulted in a pregnancy. Unfortunately, our joy was short lived. We lost the baby in October.

We are hoping our rainbow baby comes soon.


Janice said...

I am saddened by reading your experience and wish to share some extremely important information about metabolizing folic acid when having MTHFR gene and infertility. It is not possible for a body with MTHFR gene to metabolize regular folic acid regardless of the amount taken. You need to take methylated folic acid (partially broken down) also take yourself OFF ALL GLUTEN and gluten product. Read every label before consuming. Take plenty B vitamins and consider having these as methylated too. Go see a naturopath specializing in fertility issues. Should you wish to talk more leave your email address and I will send you mine. Warmly, Janice

Brandy said...

I am so sorry to hear about the loss of your little Luke. Since becoming a baby loss mom, this blog has been so comforting and amazingly helpful during my grieving process. After the loss of my son, I found out that I have MTHFR with 2 copies of the gene just like you. This gene mutation didn't have anything to do with why I lost my son, but it is a definite concern of mine for future pregnancies. If you talk to Janice who wrote the message above, could you give her my email address as well? I am really interested in what she has to say about gluten. My email is I really want to thank you for sharing your story. All of us BLM's need to stick together!

Anonymous said...

I have a story similiar to yours. I'm so sorry any of us have to go through this. If you are is my link. Good luck in your future opportunities.

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