My "HemAware Wednesday" update is late. (But what's new, right?) I decided to copy & paste this particular link (in addition to adding the link) because I realize that not everyone will be comfortable clicking on a "random link." We found out the good news about Diamond Tiara on 9/21/10. (It was about 9:20am when I found out.) My genetics counselor is the BEST. I wished that I could reach through the phone and hug her when she told me the news.
P.S. John and I haven't officially decided on a first name for Diamond Tiara, but we've selected a middle name. John gave me the go ahead to share our baby girl's nick & middle name.....
Noelle - "Noie"
Pretty, no? Anyhoo, enjoy the post!
I was in a meeting when it happened. I peeked at my cell phone vibrating in my pocket and recognized the number immediately. My genetics counselor was calling, and I knew the results of my amnio had finally come in. I hurriedly stepped out of my meeting to answer the call, hoping I would pick up before my voicemail did. My heart was pounding. The results would define my birth plan, alter my daughter’s destiny and possibly change the lives of our entire family.
The first few seconds of the call were a blur. My genetics counselor went over the clinical data and the mutations the laboratory searched for. I felt the adrenaline coursing through my veins. I’m usually very savvy when it comes to medical speak, but my brain was struggling to decipher what my ears were hearing. Then, she said it…
“Your daughter only carries one copy of the factor VII deficiency gene—your copy. She does not have factor VII deficiency. She’ll be just like you—a carrier.”
I’m going to remember that conversation—that moment—for the rest of my life. I felt an instant wave of relief wash over me. A huge weight was lifted off of my shoulders. My baby girl is a carrier, not a severe! She’s going to be OK. No NICU [neonatal intensive care unit] stay, no CVAD [central vascular access device] surgeries, no infusions, no needles and no cesarean delivery for me!
My heart was singing! I was so overcome by the sheer joy of the news that I started to cry right there on the phone. My genetics counselor was equally happy for me, and I must have thanked her about a million times. I honestly believe that this amniocentesis wouldn’t have happened had she not gone to bat for us. It’s not very often (almost never) that our insurance carrier agrees to pay for genetics testing to be done overseas. I felt so lucky to be assigned as her patient, and I will always be grateful for her help.
I called John immediately after I got off the phone with the counselor. I was still crying because I was so ecstatic. I heard John breathe an audible sigh of relief when I shared the news. We’re not symptomatic carriers, so our daughter will be able to lead a normal life. As long as she does not have children with another carrier, she will never pass factor VII deficiency down to her children. John and I joke that we were destined to be with one another because we both carry incomplete forms of a very rare gene. I’m hoping our youngest girl won’t be so “lucky” when she gets older.
I tried my best to make light of the situation, but truth be told, I was terrified of “hitting three in a row.” For the last few weeks I’ve felt like my body was bracing for a storm as I waited for the results to come in. John and I were mentally preparing to raise two little girls with a severe bleeding disorder. I was already calculating my Family and Medical Leave Act hours to include maternity leave and a possible NICU stay for the baby. I was worried about my job, our finances and my ability to be up to par to raise two bleeders. John tried to think of creative solutions for our worrisome scenarios.
Aside from preparing for the worst, we also romanticized the idea of having two bleeders in the house. If two girl bleeders were in our future, making light of the situation normalized it for us. Nothing would be new with this baby—she would have the same NICU staff, surgeon and hematologist as Niki. We wouldn’t need to have all the training we did when Niki was born, because we have turned into veteran HemoParents.
My fantasies not only included two little girls to put pigtails and cute dresses on, but two little girls to order supplies for. I thought about color coding their factor vials and supply drawers in pink and purple to keep things fun and organized. I imagined how amazing it would be to watch Niki help take care of her little sister. And even though it wouldn’t happen anytime soon, I daydreamed about how awesome it would be to watch them console one another if they both had horrendous periods to deal with. But none of that was going to happen because this baby is a carrier.
Our euphoria calmed down as John and I talked about how the good news was also bittersweet. After all, this meant that Niki would be growing up with her bleeding disorder … alone. Now Niki’s only direct connection with factor VII deficiency is buried deep in the ground. We’ve always feared that Ethan’s death would place a stigma on Niki’s perception of her factor VII deficiency. It could go either way. Niki could feel utterly alone and resent her disorder, or feel blessed because she would not be alive today if it weren’t for her brother. We will try hard to raise Niki so the latter is the case, but again, only time will tell.
Nevertheless, John and I are absolutely relieved that our youngest daughter and final addition to our family is a carrier. We have two “normals,” two “deficients” and now, finally, a “carrier.” We’ve got the best of everything, and we feel truly blessed.