September 18, 2013


I had my blood drawn recently at a geneticist’s office – watched the crimson sap from my veins fill the vials, wondering what it had in store for me and my babies. I waited for a few weeks and then got a call from the geneticist. Positive. My chances were apparently one in two, so it wasn’t a total jolt. It has started an ongoing conversation in my family about genes and detection and vulnerability. We increasingly have the ability to gaze into a crystal ball that used to be entirely opaque and is now starting to clear for small glimpses if we choose to look.

My dad carries an SDHB gene mutation. Simply described, it is a mutation where carriers have a 70% chance of developing neuroendrocrine tumors (pheochromocytomas and paragangliomas) in their lifetime. That likelihood may be inflated due to the frequency of silent carriers. Who knows? What are chances and numbers and positive results when placed in context of lived reality? Not much. My dad has had no issues with this gene mutation in his life. We only started searching for this when one of my cousins had major complications with anesthesia at a routine dental visit – they discovered three of these tumors as a result (anesthesia has an extremely volatile effect on these tumors and other functions like blood pressure). So my dad and his siblings were tested and my siblings and I were all tested as well. Thankfully, the majority of my siblings are negative.

Since I am pregnant, with my positive result (there are implications for giving birth if tumors are present), the geneticist wanted me to take action right away. In this case, taking action means getting scanned to look for existing tumors – and an MRI is the only ‘safe’ option at this point. Identifying tumors early on and extracting them quickly is the best way to handle this. People live very normal lives as long as they keep a close watch on any developing tumors.

The MRI was affliction. I had no idea. I went in there, annoyed that the whole process would take over three hours (they scan a lot of territory). I was ready to recoil from the beginning, thinking about the little baby I am carrying and her exposure to magnetic force and noise. I lay on the table expecting to be wheeled into the machine, bide the time and be done. But then they put me in the tunnel, head first, a camera contraption inches from my eyes – the tunnel closing in. All of my breath bottled up in my throat and I told them I couldn’t do it. I was completely claustrophobic. I had no idea. I couldn’t bear being in a confined, oppressive space like that. The technician pulled me out and had me put on an eye mask, which helped, but I had to keep doing mind tricks in order to go back in and carry on (I kept meditating about little parts of Colette – her tiny hands and the fold in her wrist – or just her eyes, her eyelashes, her hairline - it calmed my breath). When the crazy noises were knocking, whiring, droning on, little lady in my belly went crazy – movement I hadn’t ever felt up to this point in my pregnancy. It made me cry afterward, thinking that I had hurt her. Crazy experience. The good thing is that the scans were totally clear (making me regret them more).

The whole experience has me wondering what else we are walking around with – what portions of the crystal ball are still too cloudy to see, but would be terrifying to uncover. Vision that might permit preventable action, but also might simply petrify and interrupt what would have been a peaceful existence up until the actual realization of that gene manifestation. Thankfully, I feel like there are things I, and my family members who test positive, can do in this case to live very long, disease-free lives. Xavier has insisted that if it were him, he probably wouldn’t be tested, he probably wouldn’t get scanned, he probably would simply go on and accept that there are high chances of walking down the street and getting hit by a car, but he is still going to walk down the street.

While we were sitting down with the geneticist, he covered embryonic screening and recommended that we consider IVF for any possible future pregnancies – to pre-select an embryo that tests negative for this gene. Xavier and I looked at each other with wide eyes and knew we agreed without saying a word that we would never even consider it. In selecting for that one criteria, what would we unknowingly be selecting out and selecting for at the same time? Seemed so myopic. It will be fascinating to see what happens when parents are faced with the task of offspring selection and maps of gene combinations are placed in front of them – particularly when those maps can be charted more fully or completely. How/what will anyone choose? There is something very beautiful about the complexity of gene convergence in nature - having a baby and the forces that group randomly to create the uniqueness of an individual. Thinking of mapping that out in a petri dish is spooky. What kind of humans will emerge?


Terri said...

Hi Emilie, I am the original pheo
cousin, so maybe you could call me or write me. Mom (Aunt Leah) always insisted that the pure Swiss Amachers would not have the genes, but it would be the Holmsteads. But, she wouldn't let Dad get tested. We thought it was the Holmsteads because of the brain-washing. After they found mine, Janine had the same symptoms, but hers was cancer. But when MK had it too. The truth came out! My kids have to be tested also. Would love to talk with you. We are still in Austria but I could call you sometime.
Hugs and blessings

Rosie said...

We were talking last night about how everyone walks around with cancer cells or whatever without even knowing it. Think of the prevention measure this adds to your life! You will be thoroughly tested many times and on top of what might be a threat otherwise. Still, I would do anything to take those genes for you!

Xtreme English said...

What if someone somewhere had SCREENED OUT your dad? then where would you all be? Not here. Holding you all in the light. You are such a blessed family, screwy genes notwithstanding.

Emilie said...

Terri - we should definitely have a chat. I will ask my dad for your number.

Mama - great point! An MRI every couple of years might be a blessing...

Xtreme English - exactly!

Jill said...

So glad you got tested and they didn't find anything. I hope they never do. We really do have some crazy gene pool stuff going on in our family.

Love you!

Xavier Joly said...

I love my wife's gene pool for so many other things anyway.

Xtreme English said...

Xavier, you rock!!

D1Warbler said...

I totally feel for you on the MRI as I'm claustrophobic. I had to just be part way in with my head still mostly out and I still nearly went nuts!

I'm so happy that you chose not to genetic selection with future kids. As you say, what would you select out when you select in or vice versa!

I'm kind of with Xavier on this. I'm not sure I'd have the tests either.

Amy said...

Your husband really is a gem.

My friend did do genetic selection and her baby still ended up with the gene they were trying to avoid. It's obviously not fool proof. It is disheartening to think of us trying to engineer "perfect" people.

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