A resilience I didn’t know I had (Francesca's story)
"Grief comes in so many forms on the path to parenthood, whether you are struggling with infertility or not."
Happy Friday, this is our final newsletter before Christmas. As the year winds down, we just want to pause and be with you in this season. Infertility and IVF don’t take a holiday, and this time of year can feel tender in ways that are hard to explain. Whatever you’re carrying - hope, exhaustion, grief, relief, or all of it at once - there’s nothing wrong with how you’re feeling. It’s all valid here. We’re wishing you rest, some quiet moments, and permission to soften where you can. We’re so grateful to be in this with you, and we’re sending you so much care as you head into the holidays.
Today’s story comes from Francesca, whose path has included rare genetic conditions, the loss of a sister, serious infections following an IUD removal, and a dilated fallopian tube. It’s a story marked by uncommon complications and difficult diagnoses, but even more so by resilience and perseverance. We’re deeply grateful to her for trusting us with her story.
There’s no new episode today - we’re taking a break for the holiday - but we’ll be back in your inbox one more time before the new year. Until then, take good care of yourselves. 💛
x Amy and Kayti
Francesca’s Story
I was diagnosed with Diamond-Blackfan Anemia as an infant. My sister Daniella was too. Until a year and a half ago, I had no reason to question this diagnosis. As anyone reading this will know all too well, the winding journey of TTC can change many things; in my case, a lifelong diagnosis.
If you haven’t heard of this disease, you’re not alone. According to the NIH, fewer than 5,000 people in the United States are diagnosed with DBA. DBA is a rare bone marrow disorder in which the body does not make enough red blood cells, leading to a plethora of long-term consequences: steroid dependency, blood transfusions, physical abnormalities, and cancer predispositions.
My first to-do list task before even considering children was to address genetics.
DBA is also a genetic condition. Two years ago, I knew that much. And so, my first to-do list task before even considering children was to address genetics. I had reason to feel strongly that finger crossing was not a strategy I’d consider to prevent inheritance. My sister Daniella was born three years after me. She presented with similar symptoms to mine, but at an earlier age. Due to treatment complications, she passed away seven months later when I was four years old. I don’t have any memories of this time in my life, aside from a hazy vignette of having a temper tantrum at a hospital.
Luckily, I was also thought to be in remission from DBA for most of my childhood and all of my adult life. Remission doesn’t mean cured; it means you’re healthy, but the diagnosis lurks in the background. Things like viruses or pregnancy can bring the symptoms back.
In November of 2023, on a call with my hematologist, I learned that DBA has a dominant inheritance pattern. This means that only one parent needs to carry the genetic mutation for there to be a 50/50 chance that a child will have the same condition. I also came to learn that the genetic mutation that caused my family’s diagnosis was unknown. We were clinically diagnosed, but not genetically diagnosed. This was news to me. The bottom line was that there was a 50/50 chance that a child of mine would have DBA, and PGT-M through IVF was not an option for us since there was no known genetic mutation to identify and therefore avoid.
PGT-M through IVF was not an option for us since there was no known genetic mutation to identify and therefore avoid.
The short version of my emotional processing is this: fine, confused, angry, very angry, panicked, lonely, and sad.
Thoughts I had: Why didn’t I know about this before age 31? Why did I only decide to look into this now? Angstily - does anyone else understand what I’m going through?
There was a lot of anger, most of it misplaced. Grief can be a fickle thing. Given how young I was when Daniella died, I used to think the loss didn’t impact me in the same way as someone who loses a family member when they’re older. And I was right, it’s not the same. But it’s not less.
After speaking to my hematologist, there were phone calls to researchers, follow-up visits to check on the cancer predisposition, bloodwork, and finally, my family was led to Boston Children’s Hospital, where a process of diagnosing (again) began.
I was going through the same tests I had back as an infant, now as an adult, trying to have a child.
The wonderful doctor at Boston Children’s Hospital reviewed my old medical records (a story in itself - hunting down thirty-year-old medical records from multiple hospitals) and said that my presentation was atypical for DBA. So began the journey of confirming a diagnosis with extensive bloodwork, meetings with a genetic counselor, and scheduling a bone marrow aspiration and biopsy for April 2024. The bone marrow tap, the third in my life, was essential in confirming the DBA diagnosis or identifying a new one. I was going through the same tests I had back as an infant, now as an adult, trying to have a child.
One month before the scheduled bone marrow tap, I had my copper IUD removed under anesthesia due to its misplacement and lack of strings. The procedure was quick and complication-free. The recovery was not.
The procedure was quick and complication-free. The recovery was not.
After three and a half weeks of intermittent and intense pelvic pain, I began to have fevers and feel very unwell. I had difficulty going up stairs and was having *ehhhem* strange GI symptoms. Days before I was scheduled to have my bone marrow tap, I drove myself to the emergency room to find out I had a tubo-ovarian abscess in my left fallopian tube. I was hospitalized for two days on IV antibiotics.
What angered me the most was that I thought I had done everything right: I had gone to a follow-up with the doctor who removed the IUD, and nothing of concern was noticed. I had called the clinic nurses to explain my symptoms. I called a GI doctor. However, through obsessively reviewing my entire life’s worth of OBGYN medical records, I learned that I had accidentally left my IUD in too long. I changed practices at the wrong time. Information slipped through the cracks. I blamed myself for the infection, which perhaps was easier to do than just admit you can try to do everything right. Shit will still hit the fan.
You can try to do everything right. Shit will still hit the fan.
Two unrelated medical journeys were happening simultaneously in my life: one hematologic and one gynecologic. There were threads connecting them, though: uncertainty, anger, distrust in medicine, and the hope of having a healthy child.
Two months post-infection, an ultrasound still showed a dilated fallopian tube. At four months, I received the all-clear. We rescheduled the bone marrow tap, which I now approached with much more anxiety. An IUD removal was a very simple procedure, and look what happened after that! Would this procedure be simple too? Will I let a stranger drill into my bone?
The answer is, yes, I would. I was given a new diagnosis of a very rare and very mild case of Congenital Sideroblastic Anemia, an entirely different bone marrow failure. This was objectively good news. Congenital Sideroblastic Anemia follows a recessively inherited condition. This diagnosis did not just apply to me; it applied to my sister, too—a new diagnosis for us both.
This month marks about a year since the bone marrow tap, and we are now in the midst of IVF.
This month marks about a year since the bone marrow tap, and we are now in the midst of IVF. Given the pelvic infection, I had an HSG earlier in the TTC process than most. It revealed a dilated left fallopian tube, aka hydrosalpinx, that will need to be surgically removed if we want to get pregnant. We have just finished two back-to-back egg retrievals, and we are fortunate in many ways: we have excellent insurance coverage, and so far, the IVF process has progressed smoothly.
As difficult as this journey has been, I wouldn’t change it if I could. It revealed a resilience I didn’t know I had. I’ve seen the strength of people on their own fertility journeys, looking around waiting rooms in awe at what so many women go through. Grief comes in so many forms on the path to parenthood, whether you are struggling with infertility or not. This journey led me to process loss in ways I don’t know if I would have otherwise. I read over my and my sister’s hematologic medical records, stories that paralleled and continue to do so in new ways. When I needed an extra boost for the spicy shots of Menopur, I imagined Daniella cheering me through the stims.
When I needed an extra boost for the spicy shots of Menopur, I imagined Daniella cheering me through the stims.
12 Days of Infertility Giveaway
No new episode today, but there are still a few days left to enter the 12 days of infertility giveaway! We have so many amazing gifts from brands to help get you through infertility and IVF this next year - make sure to enter by December 25 for a chance to win something.
Weekend mood:
