My best friend of 20+ years and her fiancé have been diagnosed with multifactorial infertility. It shouldn't be this difficult, right? You meet somebody, fall in love, decide to start a family - a year or so later, baby!
Unfortunately, not (yet) in this case. Megan and Rik fall into categories that nobody wants to be part of: 1 in 8 couples that struggle with infertility and 1 in 4 couples that experience a pregnancy loss. Heavy.
This time last year I was pregnant and we were planning on sharing the news with Megan and Rik. I had a hard time finding the words when talking to Megan because I knew how badly they also wanted a baby. Their excitement and support was overwhelming to see from two people that had already lost one pregnancy at that time. They focused on the positives and instantly imagined how fun it'd be to raise our children together.
A week or two prior to this, I had an anatomy scan. During that visit I was offered genetic carrier screening testing by blood work, I was already 13 weeks pregnant. I found out that I carried several serious autosomal recessive conditions (potentially life threatening to a pregnancy or infant). We waited for my husband's lab results and fortunately he did not carry any of the conditions on the panel. A stressful 4 week process, which would have been less stressful if done prior to pregnancy. My first thought was - This should be offered prior to a pregnancy! My second thought was - I need to tell Megan about this before she's pregnant. I didn't want her to feel the anxiety I felt going through the waiting game while pregnant. I thought she'd get the same sigh of relief, ultimately.
She's a planner, she called Maternal Fetal Medicine, booked herself the next available appointment and got her blood drawn for the carrier screening panel. Her first reaction, "Why the hell isn't this offered to women of child bearing age? I've never even heard of it!"
A few weeks later I remember being at work, an hour into my day, Megan came into my office, she had a look on her face, "Maternal Fetal Medicine just called me..." And it has seemed like a bad dream since then.
She got her lab results back. Megan carries the one condition on the panel that does not have to be carried by both parents to be passed on: Fragile X Syndrome. The carrier screening did not come with a sigh of relief for them, it came with the diagnosis of High Reproductive Risk. In addition to being a Fragile X Premutation Carrier, there is risk for Megan to develop Fragile X associated Premature Ovarian Insufficiency (AKA, early menopause).
Very shortly after receiving all of this news, Megan found out she was pregnant and lost this pregnancy. Shortly after that, Megan found out she was pregnant again, and it was an ectopic pregnancy. Making for their third pregnancy loss total. Their first loss some years before was chalked up to, "it happens, try again, you're young." Had their first Doctor offered carrier screening,(which for some reason is not routine), Megan and Rik could've potentially avoided two additional pregnancy losses and would've likely started their IVF journey earlier with Megan's early menopause risk.
Megan's third pregnancy loss, the OB office reassured her on several occasions when they couldn't find the (ectopic) pregnancy on ultrasound that it was just "too early". Too early turned countless blood draws and ultrasounds trying to "find the pregnancy". On the same day my son was born, Megan found out she needed a chemotherapy drug injected to terminate her pregnancy. Heavy.
Two best friends, in the same hospital for two completely different reasons. We weren't able to see each other because of COVID. I will never forget how this felt and I'm not sure I could put it into words.
Fast forward to some time after Megan's injection, additional bloodwork confirmed the pregnancy was still progressing despite the chemotherapy injection. Cue up chemo injection number 2. Wow - labs showed a STILL progressive pregnancy and ultimately ultrasound showed a fetus developing in Megan's fallopian tube. This resulted in emergent surgery to remove the pregnancy and tube.
Amidst the countless appointments, blood draws, procedures, ultrasounds, etc., Megan and Rik started seeing a Reproductive Endocrinologist. It was confirmed that they would need to undergo IVF/ICSI in order to have children. This is not the easy way out - the testing, the procedures, egg retrieval, the labs, etc., done in preparation is consuming. Mentally, emotionally, physically, financially.
Because of the Fragile X Premutation factor, Megan and Rik's embryos require extensive, specified genetic testing done at only 1 of 2 labs in the United States. This has come with an unexpected out of pocket cost, on top of what is already adding up from copays for hospital stays, injectable medications for pre-egg retrieval and pre-embryo transfer, embryo PGT-A (Pre-Implantation Genetic Testing for Aneoploidies) and PGT-M (Pre-Implantation Genetic Testing for Monogenic / Single Gene Defects). Although financially straining, they will not forgo the testing as they want Fragile X to stop here in their blood line. They want to leverage science and medicine to do this for them. Their kids and generations to come will have one less thing to worry about without the risk of having Fragile X or carrying Fragile X.
As a couple, they are strong, they are fortified by each other and have grown together, and undeniably compliment each other. As much as Megan and Rik deserve the experience and joy of pregnancy and parenthood; the world deserves to have more people with their qualities, and more children deserve to be born to parents like Megan and Rik.
All raised funds will go directly towards the costs of IVF/ICSI and genetic embryo testing.
To follow Megan and Rik's journey to starting their family and more information, please visit Megan and Rik's infertility awareness page: instagram.com/bringonbabybaganha
For more information on Fragile X Syndrome please visit: www.fraxa.org
Thank you for taking the time to read about Megan and Rik's story.
I appreciate in advance the help you are providing my friends in avoiding financial hardship during this time - one less thing to worry about when they do in fact become new parents!
- Donna Smith
- Stacey Lourenco
- Shelbi Choquette
Organizer and beneficiary
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