Signs

I have a running list of topics for this blog, though sometimes I just wing it and write about whatever is going on (or not going on) at the moment.

I wanted to take a minute to tell this story because it had such an impact on me, because it gives me the strange feeling of hopeful hopelessness that comes when all is lost and you are clinging to it anyway.

Last night my husband and I met up after work for our slightly late Valentine’s Day dinner. He said he had a story to tell me.

He had to get some coffee grounds for work to test some equipment. He checked the office lounge, but there wasn’t enough to work with, so he decided to stop at a Dollar General store on the way.
A woman was standing at the checkout counter, chatting with the cashier. He said it was obvious she had been there for a little while. He got his coffee and went to stand in line.
The woman asked him if he was in business. He said yes. She asked him if he recently got a new job. He said yes.
“You look like a successful person. But you look sad, too. Did you lose something this year? Or maybe two somethings?” she asked.
He told her he had lost two sons this year.

This is where it gets strange and amazing.
“Oh, my God,” she said as she turned to the cashier. “Tell him.”

The cashier said this woman was out during her day and felt compelled to stop at the store to buy two balloons. She didn’t know why, or who they were for. She was telling the cashier that she sometimes gets these feelings, and acted on this one.

“I think these balloons are for you,” she said, “to send up to heaven for your little boys.”

So he stuck the star-shaped balloons in his car and came to dinner to tell me about the woman he met. I immediately started to sob.

I don’t think I will talk about my spirituality here now, because that is another whole topic. I can tell you that I feel my boys with me a lot. For instance, after my first son died, I noticed the number 1234 in all sorts of places — the digital clock, the total on receipts would be $12.34.
Finally, I decided it had to be my son. Then, after my second son died, I noticed the number 1235 just as often. At first I was annoyed with myself for missing 1234 so often. Then I realized — the plus one was my second son.

I know it sounds crazy, and maybe it is. Maybe I’m subconsciously looking for these signs that I attribute to the spirit and memory of my babies.

Nothing about the last year has been sane for me — I wallow in the total chaos of it all, the complete carnage. If signs from either the spiritual afar or the close quarters of my imagination ease the burn even a little, well, I’ll take it.

Last night we let the balloons go in the middle of a snowstorm. Our daughter stood in our driveway and sent those balloons to her brothers, wherever they may be.

60 freaking days

A few weeks ago, I was desperate for a baby. I considered getting pregnant before the exome results came back just so I didn’t feel chained to this unknown, and also because in September I will be of “advanced maternal age.”

I guess 35 is the new 40.

Since then I have done a thorough soul searching. Why do I want a baby? Will a new baby make me happy? Will it be like balm to my raw heart? Will it lessen the pain of losing my boys? Will it save my marriage? (Note: I am happily married now, but the stress of two dead babies in the first year of marriage is getting awfully heavy for both of us. I’m noticing the cracks).

The answers are plain and simple. “No.”

The sound of my mental answer to my own insane questions was the sound of brakes being applied to my future. Sanity has returned - no baby making until we have an exome report.

With exactly 60 days left until E-day, my heart has given up - mostly because it can’t take any more sorrow.

I was doing better - emotionally cruising after a wonderful out-of-state visit with family. I took a jet plane to a place where none of this exists - there are no rooms with sad memories, no in-laws to avoid, no waves of disappointment to surf.

Then came Valentine’s Day. Now why, you might ask, does the most romantic day of the year bring me so much sadness? On Feb. 17, 2012, I went in for my routine ultrasound - you know, the fun one - with the expectation of eating lunch with hubby after and then zipping to my daughter’s school to tell her if she was going to have a baby brother or a baby sister. A few days before, on Valentine’s Day, I gave my husband a sports-themed baby bib set in our baby excitement. My Valentine’s card is full of his love for me and the anticipation of being a father.

Instead, of course, on Feb. 17, I left the doctor’s office in tears, sat for an hour on hold with my insurance company — which did not want to cover a high-risk ultrasound that same day — and ended up having an amniocentesis. Then I went to my in-law’s house and told them that their grandson would not likely be born.

Fast forward a month. After all the tests and ultrasounds and MRI’s and EKG’s and meeting after meeting with doctors and specialists - the baby dies two days after my grandmother dies. At her funeral, my family treats me like a crazy person who had a hysterical pregnancy. Like I made the whole thing up. My imaginary dead baby, conjured for dramatic effect.

I find that I link all my bad memories to holidays. Valentine’s Day = almost dead baby. St. Patrick’s Day = dead baby, dead grandma. Easter = dead baby estimated due date. Fourth of July = dead baby estimated due date. Halloween = dead baby. My birthday =  almost dead baby. Christmas = too much sorrow to handle all in one day. I won’t even talk about Mother’s Day and Father’s Day.

So I get off the airplane from my states-away vacation and I’m back to dead baby reality: the one year anniversary of that “supposed to be fun” ultrasound. The kick off of a year of sad ‘one year anniversaries.’

Genetic conspiracy theories

I have a theory.
OK, I have more than one theory based mostly on Google searches and PDF medical journal articles. I’m no geneticist, but I know that whatever discovery this exome may reveal, it isn’t going to be good. Part of me uses my research as insulation - preparation - for the bad news I feel is coming, though I know it won’t help.

With 64 days until E-day, I have another self-diagnosis. While Thalassemia is still on my short list, I present to you all the possibility (or probability) of single gene dominant mosaicism.

What is this new demon? Ah, it is possibly the worst one of all.

Mosaicism is when a person, called “a mosaic,” has some affected cells and some “normal” cells. That means the cells within the same person have a different genetic makeup.
This is where it get personal for me: A mosaic germline mutation is carried by an unaffected parent, who is unaffected because the mutation is not in the other cells of the body. Genetic testing using blood or tissue samples from the unaffected parent will be negative for the mutation.
This is significant because it can be passed on and is often seen in parents who have more than one affected child.
Most mosaics don’t know they carry the mutation until they have affected children.
Germline mosaicism is seen in all inheritance patterns, but it is most commonly linked with autosomal dominant and X-linked disorders. If it is an autosomal dominant mutation, the child will be affected with the disorder and will not be a mosaic.

Ready for the kick in the teeth?

YOU CAN’T TEST FOR IT.

That’s right. Remember all those “clean” genetic tests on my medical chart?

Ready for the kick in the gut?

YOU NEVER KNOW HOW BAD IT IS.

I know what waiting for the exome results is essentially waiting for “my percentage.” I am waiting to see if we should take a calculated risk in the conception of another child. Hubby and I have had many discussions about risk. How high is too high of a percentage of recurrence?

But the chance of mosaic autosomal dominant recurrence can’t be calculated because it depends on the proportion of germline cells with the mutation, which can’t be determined through testing.

Some studies say risk can be as low as 6 percent, some say 30 percent, others even more. Some just give up and say it can’t be predicted. One mentioned that a disorder can affect 100 percent of offspring, if inherited just the “right” way.

So there you have it - my 64-days down genetic theory.