Hemophilia runs in my family, on my maternal side. The easiest explanation I can give is that women can be carriers of hemophilia, and men can be hemophiliacs. Hemophiliacs’ bodies don’t clot blood properly, because their blood lacks clotting factor. In my family, the actual hemophilia symptoms have been mild, but they exist and have created some questions and confusion.

Women who are carriers have a 50-50 chance of passing that carrier status onto their daughters, and a 50-50 chance of passing hemophilia onto their sons. My grandmother was a carrier, and my uncle was a hemophiliac, but my mother chose not to have genetic testing done, so while I’m well aware of my family history, I have no idea what my carrier status is.

Given that our particular strain of hemophilia is mild, and that there hasn’t been a boy born on my mom’s side of the family in over 40 years — seriously! — it hasn’t been a hugely pressing issue for anyone, but it is something I’d like to have figured out for myself, and for my kids. There is also the fact that with carrying a boy, extra precautions like avoiding forceps or vacuum-assisted delivery should taken.

When I was pregnant with M, I gave my doctor the family history rundown and he put in a request to the genetics department at a larger hospital, five hours from us. While one can access a shocking amount of medical care locally, even in our tiny town, genetics issues have to be taken care of by a larger centre. I don’t know what happened with that, if genetics dropped the ball or my doctor did, but ultimately nothing was set up during that pregnancy, and when we found out M was a girl around 17 weeks, I decided to not push for more information.

I was expecting much of the same this time around, but when I had my first consult with a OB/GYN specialist who was seeing me through early pregnancy thanks to a history of loss, he immediately referred me to genetics when he spotted my family history on my chart. Maybe it’s the fact that he operates out of the same location as the genetics team, but I had a message from them a few hours later.

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The first step, I learned, was to try to pull up DNA testing from family members who could have held the key to the specific genetic mutation that affects us. Unfortunately, both my carrier grandmother and my hemophiliac uncle have passed away. My uncle’s wife agreed to sign over his medical records to the genetics department, and my aunt, who had previously tested as someone with low clotting factor in her own blood (often a sign of being a carrier) signed hers over as well.

A few weeks later, the genetics counsellor called me back — turns out my uncle had never had DNA testing done, something she said made sense with the era in which he was diagnosed and treated, and my aunt’s records were nonexistent. That left us with no specific mutation to find, so she booked me in with a doctor who specialized in genetics. That genetics team travels to the larger centre one a month, and I was able to secure a telemedicine appointment for the next month, instead of having to make the 10-hour round trip.

That appointment was eye-opening! I knew a few things already, like having one’s factor levels tested is generally inconclusive if pregnant or breastfeeding because it typically naturally rises in those situations. But I learned two new, important things — one, non-invasive prenatal testing (NIPT) is covered by Ontario’s provincial health plan for various reasons, including if a geneticist or MFM signs off on it due to a sex-linked issue. Two, there’s a lab in Kingston, Ontario, that specifically focuses on molecular diagnostics of inherited bleeding disorders.

Long story short? I had my NIPT paperwork signed and faxed over, the $550 cost fully covered, and I had orders to have my blood taken for both factor testing, and to send to Kingston for genetic sequencing. I had to wait a week to go back for the NIPT test, because my hospital only flies blood out to Toronto once a week, and I was able to get the other blood drawn at the same time.

It was expected to take a week or two to get the NIPT results back. They were doing it to find out if baby is a boy or girl, so we could know how quickly we needed to try to figure out the rest of the puzzle pieces. I was glad to have had the extra chromosomal testing done, too, because I passed on the usual 12-week screening in light of not wanting to make that same 10-hour round trip just for an ultrasound.

As for the DNA/genetic testing, they told me it could be awhile. Without a target mutation to look for, my understanding is that the lab basically had to pull those genes apart and try to look for something that doesn’t seem right. If either the factor or DNA tests were to come back with what looks like no problems, that doesn’t necessarily mean I am not a carrier — it’s more like an inconclusive result, because we can’t compare it to anyone else. And that’s what happened; my factor is as normal as it gets, and the first round of genetic testing showed that I don’t match any common genes for hemophilia.

That’s not exactly comforting, but it’s far more information than I’ve ever been able to dig up otherwise, so hopefully it’s a good start. I recently signed off on sending the blood to a national research lab to check one more time, and that’s the end of the road. Interestingly (to me, anyway) I was able to also sign off on anonymizing my sample and leaving it in the bank for future research!

I’m thinking I’ll ask to have my factor tested one more time once I’m done being pregnant and breastfeeding just to see if my baseline levels are normal. Unless there are new leaps in technology in the future, I’ll probably never be able to say for sure that I’m not a carrier.

I’m amazed, still, at the things that geneticists can do, and really impressed with how well the system works even in my remote town. While I’m nowhere near the genetics department in terms of geography, and even further from the geneticist herself and the labs dealing with my blood work, they’ve made things as accessible as possible through telemedicine, emails, phone calls, and a lot of inter-hospital cooperation.

I’m curious how this scenario plays out elsewhere, for people who have more immediate access to labs and hospitals, and for people who may have had a more challenging experience accessing genetic counselling. If you’re willing to share, I’d love to hear!