The Curse of Fragile X

I’m making up for my non-existence on this blog for the last several months with a long post today.

Last couple of months we’ve been focused on settling in our new home but also going through a lot of not-so-fun family planning.

In 2017, when I was 12 weeks pregnant I got a call from my OBGYN with test results that checked for any genetic or chromosomal abnormalities with the baby. “So your results came back positive for Fragile X.” What I didn’t know in that moment is that call was going to send me on a long, tiring journey of future family planning. I had no idea what Fragile X was or what it meant about my future or my daughter’s future. So then came the Googling and the multiple Genetic Counselor appointments. For those with full mutations of Fragile X, it presents a ranging severity of intellectual disability, however females typically have milder cases. Physical characteristics of males with FXS (Fragile X Syndrome) can vary from large ears, large foreheads, prominent jaws, and flat feet. Many improve their conditions through therapy and medications for any anxiety and mood behaviors. For females that do not have the full mutation like me, but have carrier status or are “premutation” carriers (characterized by 55-200 or less CGG repeats of the gene), can have early or premature menopause, diminished ovarian reserve, irregular periods, and tremors or ataxia syndrome later in life.

My doctor assured me that my carrier status didn’t put my pregnancy at risk or my soon-to-be daughter at risk since females have two X chromosomes (one from mom and one from dad). However, for any future pregnancies I should consider IVF with genetic testing on any embryos, or chorionic villus sampling (CVS), which is a test that involves taking a sample of tissue from the placenta to test for chromosomal abnormalities and genetic problems. However, CVS can’t be done until around 12 weeks and also puts the pregnancy at risk of miscarriage.

We were blessed 28 weeks later with a happy and healthy baby girl. However, the question of whether she was also either a carrier or had full mutation of FXS remained. Over the years we cycled through three different pediatricians at three different practices. Quite honestly, I didn’t feel like the pediatricians were really giving us the proper attention or care. Each of them denied testing her for FXS even after telling them about my carrier status. As she grew older, I could tell something was off because as she started acting more hyper with low attention, and her speech wasn’t on par of a normal 3 year old. So we started taking her to occupational and speech therapy. All her therapists agreed that she needed testing for FXS because while she was normal in most areas, she struggled in others. Finally in August 2021, after a lot of angry calls to her pediatrician’s office with supporting info from her therapists, they finally agreed to testing her. Two weeks later we learned that she does indeed have the full mutation of FXS. It definitely provided a lot of explanation and clarity for us on some of her behaviors. It doesn’t change anything for her other than keeping up with her OT and speech therapy for the next few years. She’ll live a completely normal life otherwise, but like me when she decides to start a family, will need to undergo IVF to ensure she doesn’t pass on FXS to them.

So for female FXS or FX premutation carriers, it comes with a lot of future family planning decisions. IVF or CVS testing are the only two options to have a guaranteed outcome of not passing on the FX gene. Personally, I wasn’t comfortable with trying to conceive naturally again and then be left with a big question for the first few weeks of pregnancy of whether the baby I’m carrying is FXS free or not. Let alone the hard decision that would come if I did end up conceiving a FXS baby naturally. And so, our IVF journey began in late 2019, when we first consulted with an IVF clinic. After several hormone tests I came to find out that despite being 28 years old at the time, I had extremely diminished ovarian reserve equivalent to a 40 year old female. No matter how healthy of a lifestyle I led, my egg reserve was very low.

Not wanting to waste time given the information we had, we decided to start our first cycle of IVF in March 2020. The very month when the pandemic caused several fertility clinics to halt all treatments and IVF cycles. So we had to wait. After a 2 month delay, we got a call in May that the clinic would allow us to start treatment. So I started priming my body with a bunch of supplements: prenatal vitamins, COQ10, DHEA, Vitamin D, and Vitamin E. Then came the hormones with estrogen patches followed by stims (hormonal injections to help grow ovarian follicles and promote egg maturation for a successful egg retrieval). During stims I had to make frequent visits to the fertility clinic for scans to see if my ovaries were responding to the medication. Unfortunately, there was no growth by day 5 of stims and we had to cancel my cycle. Feeling defeated and angry after shelling out almost $8,000 between the cycle and medications (which mind you, insurance covers none of it) we decided we wouldn’t pursue another cycle. We also had paid another $3,000 to the third-party genetic testing company to create a test probe based on my FX DNA. We took some time over the summer, and in early Fall decided we’d give it another shot after the holidays.

So cycle 2 started in January and this time my doctor made the protocol more aggressive, meaning my body was going to be met with more medication which meant a total of 8 injections a day to my stomach. Going in for my regular scans, my ovaries were responding this time but they were responding extremely slow. Looking to support groups online, I started getting regular acupuncture, which again was not covered by insurance and cost $180 per session. By day 8 of stims, the doctor pushed to get his practice’s board approval to let me continue the cycle even though I was past the average 1 week mark of stimming. So I stimmed for a total of 16 days. By day 14, I had a total of 4 follicles that were maturing sufficiently. This was nowhere close to what most IVF patients end up producing. Typically doctors at least want to see a dozen or more follicles. On February 5th, I went in for my egg retrieval. My anxiety was through the roof. I felt like I was back at the delivery room when we were having our daughter getting ready for my c-section. After coming out of sedation post-retrieval, the nurse came to tell me they retrieved all 4 follicles. Compared to most egg retrievals, this number was extremely low so we continued to keep expectations low even though secretly I wanted to keep hopes high. For this cycle we had already shelled $14,100 and an additional $6,000 on medications. Keep in mind all this money comes with no guarantee on any healthy embryos let alone a healthy pregnancy. The next day, we got a call that of the 4 eggs only 3 had fertilized. There was still roughly another week left to see how those 3 embryos mature and if they survive through the blastocyst cycle. Luckily, all three made it to blastocyst. Last hurdle of the embryo viability was to get them biopsied for FXS through a third-party genetics lab. This process typically takes 6 weeks but due to COVID-19 things were delayed. During the 8 week wait, I was able to give my body a break from all the hormones and treatments. Finally, we got a call that two of the three were FXS free and unaffected normal embryos. The other did test positive for FXS but was a female, so still viable if we wanted to proceed with it. So we were blessed to have three frozen embryos.

Once we knew about our embryo results, I started to shift gears to focus on prepping for an embryo transfer. I did a mock cycle or what’s called an ERA (Endometrial Receptivity Array) over the summer. Basically I would be on all the medication I would take for an actual embryo transfer without actually transferring and get my uterus lining biopsied through a “scratch” which would then be sent to a lab to determine how receptive my uterus is to an embryo transfer. After about 2 weeks, the results were that I was pre-receptive. This meant I would just need some extra time on hormones before an actual transfer for optimal receptivity.

Amidst all of this, several friends and close family members announced pregnancies or welcomed babies. Majority didn’t know about my IVF journey or if they did, they didn’t know about the details. I’m not going to lie, but these sort of announcements were hard because all I could think of was how easy it is for others. At one point, a close family member made their announcement through a Facetime call which upon answering all I saw was a positive test pointed to the camera. I was so happy for them but so disappointed of their lack of sensibility and emotional intelligence knowing I had been going through IVF for the last 2 years.

Fast forward to September, we were finally scheduled for our first frozen embryo transfer. The weeks leading up to it, I did everything to prep myself. Injected myself with all the prescribed hormones like Lupron, Progesterone and stuck a crap ton of Estrogen patches on my belly. The havoc these hormones create on my body and mood was unreal. I was eating Brazil nuts, drinking Pomegranate juice, bone broth, going to weekly acupuncture, eating extra protein, and doing everything possible to make my uterus an iron dome for this embryo.

The transfer day itself was nerve wracking. I passed on the Valium because I didn’t want to psych myself out about being on more drugs, especially because I never took Valium before. I decided not to tell my parents about my transfer, anticipating we would share good news with a surprise announcement in 10 days once my beta test confirms I’m pregnant. Our embryo was a perfect grade A fully hatched, ready-to-implant glob of cells. I had some cramping my first 2 days post-transfer, which got me excited knowing these could all be implantation symptoms.

Naturally, being an impatient person I decided to do an at-home early pregnancy detection test on day 4. Stark white negative. Feeling defeated, I still was hopeful that it’s too early for a urine test to capture a pregnancy. Yet, I started scouring Google for answers comparing my results to other frozen transfers. The morning of day 5, same result. And then day 6, day 7, and day 8 no change. By now, I knew our embaby didn’t stick. I was heart-broken and angry. Actually, I was pissed. Why me? I did some much work over the last 2 years, poured out so much money, injected the crap out of my stomach and ass and literally sacrificed simple things like getting my nails done, wearing perfume, etc and anything else that could counteract with fertility.

It’s not that I’m infertile. It’s not that I can’t carry a baby. Our daughter is proof I can. It’s simply that the risk of another FXS child are too high because of this shitty gene I was born with and I have no choice but IVF.

So, we’re back to square one. We are blessed to still have one more normal frozen embryo waiting to transfer, but it’s not the perfect grade as our first. We’re debating over going through yet another IVF cycle and egg retrieval just to be able to bank some more in case the second one also fails to implant. For now, I have a lot of questions for our doctor on why it didn’t work. I’m going to focus on resetting my body, cherishing my almost 4-year-old and just being able to relax and not worry about my timed medications.

These last 2 years have been exhausting to say the least, and I wouldn’t wish IVF treatments on my worst enemy. The crazy part is the TTC (trying to conceive) community is huge and I have already come across so many women online with FXS carrier status like me. IVF is hard as hell and puts your faith to the ultimate test. Sometimes I get frustrated thinking that healthcare professionals failed me. There is no wide encouragement of prenatal testing at OBGYNs. Maybe if I knew of my fertility health and FX status earlier in life, I would have better prepared for it by banking embryos early on. So if you’re a female who doesn’t know yet if you want children someday, I definitely encourage you to know about your fertility and genetic status as soon as possible. It may just change the course of your future.

As for me now, the only thing that gets me out of the rut of feeling like crap is counting all the other blessings around me. And maybe one day I will be able to be a mom of more than one child, and now is just not the time. For now, I’m going to focus on restoring everything I have sacrificed during IVF, hopefully feel some level of normalcy, and feel like my old pre-FX carrier diagnosis self.

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