27. Chapter Twenty-Seven
Chapter Twenty-Seven
Meg
N ine weeks later ~ March 31st
When my blood pressure cuff released, I stared at the reading. One-forty over ninety-two. Dammit, I was already taking two blood pressure medications and was only sixteen weeks pregnant. And it wasn’t as if I had a stressful job. After I’d shared the news with my fellow librarians, the director told me to take as many breaks as I needed. Sitting at my desk in my little office, I closed my eyes and drew in a deep breath, focusing on the little life inside me. Breathe in, two, three, four, breathe out, two, three, four.
Moya’s website said pre-eclampsia wasn’t even a thing until twenty weeks. I couldn’t deal with blood pressure this high this early, but worrying only made it worse.
The tension in my shoulders began to ebb but my moment of relaxation was interrupted when my phone dinged with a text. I let out a long exhale before I looked down. It was from the genetics laboratory where Moya had sent my blood test.
With all the crazy stuff happening over the past few months, I’d completely forgotten that Dr. Davis had ordered genetic testing. I logged on to my account and opened a document entitled Diagnostic Testing Results .
It had my data listed at the top followed by a subtitle: Variants.
Beneath it, they listed the gene COL3A1 with the following data: Variant c.2096_2098delinsTT (p.Gly699Valfs*92), Heterozygous/Pathogenic/Detected.
Hmm. So they found something. Doesn’t everybody have something?
Gone were the days when people studied the stars in search of answers. Though I have to admit I’m glad I live in the twenty-first century and not the second.
I paged down to a section outlined in bold:
RESULT: POSITIV E
One pathogenic variant identified in COL3A1. COL3A1 is associated with autosomal dominant vascular Ehlers-Danlos syndrome and autosomal recessive brain malformation.
The report went on to say that this was a medically important result and should be discussed with my doctor to determine the next steps. It also said that my relatives might be at risk.
Something wasn’t right.
I swear, I felt the baby kick—or flutter. Anyway, the baby that I was creating just moved. Had I passed this variant on to him…or her?
I read further and sweat broke out across my forehead. I couldn’t breathe. Yes, my child might or might not have it. A COL3A1 variant affects everyone differently and can vary widely in the same family.
Shit!
“ vEDS is a connective tissue disease characterized by increased risk for rupture of the blood vessels and/or visceral organs (like the uterus and colon). Rupture of an artery can cause rapid blood loss and is a life-threatening medical emergency. Arterial dissection and/or rupture most commonly occurs in the aorta, renal, mesenteric, iliac, femoral, vertebral, and carotid arteries… ”
Oh. My. God.
Oh!
My!
God!
I wasn’t about to take my blood pressure now because my heart was pounding so fast I had no doubt I was pushing the limits of hypertension. For the love of Moses, by the way this reads, it’s a miracle I’m still alive!
Now what? Do I call Dr. Davis?
The thought no sooner passed through my mind when my phone rang, the number from a Rochester area code.
“Hello?” I answered, so frantic I had to rest my forehead in my hand.
The woman on the phone introduced herself as being from the genetics department at Moya and went through all the HIPPA protocols to ensure I was Margaret Lehn Corley. “We’ve received a diagnostic test and we need you to meet with our geneticist.”
“Tomorrow?” I shrieked. “I need an appointment tomorrow!”
“Well, we’re scheduling out a few months at the moment—”
“You don’t understand.” I slapped my hand on the desk. “I’m pregnant and I’ve just read the report. It says I can have ruptured organs—like my uterus! I need to know what’s going on. Today! Three months from now I could be dead!”
Silence hissed over the line.
“Dead!” I shouted for emphasis.
“Um…I’ll need to check with the doctor’s nurse and call you back. I take it you are open to an appointment at any time?”
“Yes.” I leaned forward, trying to breathe, trying to keep myself from fainting. “Any time you can fit me in. If I’m still alive, I’ll be there.”
After the phone call, deep breathing was no help whatsoever. I grabbed my coat and hat. It took me fifteen minutes to walk to Mike’s office, tears icy on my cheeks with a cold March wind blowing on my face.
As soon as he saw me, he darted from his desk and pulled me into his arms. “What’s wrong?”
His voice was so calm and soothing, all I could do was bury my face in the warmth of his sweater while I broke down into uncontrollable sobs.
“Is it the baby?” he asked.
I managed to shake my head.
“There, there,” he soothed, tugging me into his office and closing the door. “Whatever it is, everything is going to be okay.”
“Nooooo!” I cried shaking my head and beating against his chest, unable to explain, hardly able to breathe. I’d already had carotid and vertebral dissections. And now I was in danger of having a ruptured uterus? My wails grew louder, my gasps for air more frantic but all the while Mike just held me, spoke softly, smoothed his hand over my hair, and kissed my forehead as if I were the most precious person on earth.
“It’s okay, Meg. I love you. I’ll always love you no matter what,” he repeated over and over, his lips kissing my hair, my forehead, my ear.
I had no idea how much time passed until I was able to talk, but it had turned dark outside.
Mike brushed away my tears. “Now, tell me, what has you so upset?”
If I tried to explain, I’d erupt all over again, so I pulled the phone out of my purse and brought up the lab report, handing it to him. “Read it all.”
Mike slid into his chair while I sat across from him and watched in a state of shock as he paged through the report, his jaw tensing, his lips thinning and growing white.
When he stopped scrolling, he set my phone down and folded his hands, staring at them for a time .
This was it. The end. How could a guy as awesome as Michael Reynolds want to hang around with a genetically flawed person like me ? I should take my phone and tell him to find somebody who has normal genes as I boldly march out of his office.
Except I sat there frozen. Terrified. What the hell was I going to do if I just up and walked out? Would I be able to make it to the foyer without collapsing in a desolate heap? I loved him. I was carrying his baby. We were supposed to start a family.
“I can’t even begin to understand what this means,” he finally said, making me startle out of my reverie even though his voice was barely above a whisper.
“They called and are going to make an appointment.” I sounded raspy from crying.
“When?”
“Well, they initially said three months, but when I told the scheduler I couldn’t wait that long because I was pregnant, she said she’d have to call me back.”
Mike looked at my phone. “Has she?”
I bit down hard on my bottom lip as I shook my head. “Not yet.”
“Well then, we wait.”
“ We do?” I emphasized the “we” because any other man on the planet would be double-timing it backward as fast as he could to get away from me.
“Who have you talked to so far?” he asked, coming around his desk and sitting in the guest chair beside me.
“Only the scheduler in Rochester.”
“Well, we need answers. Your life is at risk. So is the baby’s.” He rapped his knuckles on the desk. “God dammit, why did the genetics lab take so long in the first place? You’re already into your second trimester.”
I nodded as he took my hand. “Look,” he said. “I know you wanted to go slow, but you need someone to look after you. My house is huge. Move in with me. I don’t want you to be alone. Not ever. I want to take care of you.”
Take care of me?
This was one question I didn’t have to think about for long. After all, I was already spending a lot of time at his house. “Maya, too?”
“Of course.” He winked. “We can give your little princess her own room.”
When my phone rang, I answered it without even glancing at the caller ID.
They didn’t get me in to see the geneticist the next day but did by the following week. Also, within that period of time my pregnancy had been classified as high-risk. My case had already been transferred to the obstetrics and gynecology department at the Moya Clinic in Rochester where I would have to see a doctor weekly—driving an hour and fifteen minutes each way. And I hated driving!
Today I had a genetics appointment in the morning, followed by an ultrasound and an appointment with my new obstetrician in the afternoon. Both Mom and Mike were with me as we met with the geneticist who now knew about the pregnancy, which is why they asked for my mother to come. The geneticist had a concise PowerPoint presentation that explained vascular Ehlers-Danlos in a great deal more detail than the report I’d received from the genetics lab.
The chilling slide was the one in bold letters, saying the life expectancy was fifty-one. Holy hell, my mother had just turned sixty.
Another thing I found particularly sobering was that there are actually two mutations. Both were caused by the lack of type III collagen, but my variant was the best of the two in that people with it lacked type III collagen by about half. The collagen we produced was good, whereas the other mutation caused type III collagen to be mixed up and ineffective. Those poor souls were the ones who died super young, sometimes not making it into adulthood.
The doctor shifted his gaze to Mom. “Of course, we won’t know that Margaret inherited the vEDS gene mutation from you until we get your test results back, but since your father died from an aneurysm, we’re opting to test you before we test her father.”
I smirked. As if my dad would get genetic testing.
Mom nodded. “I would think the odds point to me considering my father’s death combined and the fact that I have FMD, four known aneurysms, and a dissected carotid artery.”
“Exactly.”
“But that’s not what has me worried.” She glanced at me with terror in her blue eyes. “When Meg was born I had to have an emergency C-section because my uterus ruptured. ”
Oh. God. A wave of nausea hit as the room spun. Of course, I knew about the emergency C-section, but I think this was the first time she used the words ruptured uterus. Was I going to survive this? Was my baby?
Mike squeezed my hand.
The doctor cut her a look as if to say this appointment was about me and not my mother. “Well, we can’t assume anything until your genetic results are back.”
Mom gave the man a sharp nod, her lips pursed together in a straight line.
The geneticist regarded me with a stern expression. “So you’ve had your appendix out?”
“Yes—appendicitis when I was in college.”
“That’s a good sign if you tolerated abdominal surgery.”
“A good sign?” asked Mike while I sat there and cogitated the meaning of producing half as much but nonetheless “good” type III collagen. Maybe it took me longer to heal from a wound, but I did heal eventually.
The doctor nodded. “You’ll have to discuss your options for this pregnancy with your obstetrician, of course, but the fact that you lived through an appendectomy increases your odds of surviving the delivery.”
Mike’s back was as erect as a horizontal board. “By how much?”
“Well, let’s just say that there are many women with Margaret’s COL3A1 mutation who have survived not only one pregnancy but multiple births. Some women with this mutation don’t know they have it—they don’t know until they have a dissection or ruptured aneurysm.”
Or a ruptured uterus.
I exchanged glances with my mother while my heart felt like it was crushing against my rib cage. We both had dissections and Mom had aneurysms. A year ago, either one of us could have passed as poster women for the epitomes of health. Now we were sitting in a geneticist’s office talking about inherited faulty gene mutations.
I wanted my baby to be healthy and live. I wanted to be able to hold the newborn in my arms and be a mom. Couldn’t I have both?