Tell me again how rare it is (23 days)

Tell me again how rare it is

I’m going to scream if ONE MORE PERSON tells me how rare my situation is. I think the word “rare” is thrown around by doctors and geneticists and nurses and everyone else as a comfort - this really doesn’t happen to everyone. This really is very strange. What are the chances of this happening to you once, or even twice?

But you know what? It freaking happened to me. Twice. This, in my sphere, in my little world that now has two little urns in it, is not so rare anymore. In fact, it has become the norm.

When we went in for the big, bad, sad ultrasound on our first son, the doctor, who thought it was Trisomy 18, said the word “rare.”

Rare, they said, to have so many congenital issues across so many organ systems. Rare, it is, for the microarray to find nothing of clinical significance to blame.

Rarer still to have this happen twice, especially in a woman genetically undiagnosed. Rare again to not be able to find the gene that killed TWO babies. Exome testing is rare (though becoming far more mainstream in the last year), and rarer still to have an insurance company so willingly fork out the funds to find out what happened to two dead babies.

At our hospital, this situation has happened exactly twice in the last 20 years. I am the second case. One woman had three children with Connexin 26 (moderate to severe hearing loss), but that’s as close as they could come to finding a kinship for me in this club of sorrow. Besides, I would take deaf babies over dead babies every day of the week.

Now no one is doubtful it could happen a third time, because it happened twice —  especially in a row — but who is to know? How do you gamble on a total unknown? How to you place your bets without knowing the odds?

We swing back and forth over trying again naturally if the exome comes back with no answers for us — and usually I feel good about it. Then I met a woman who has had FOUR terminations for cystic fibrosis. FOUR. Cystic fibrosis is RECESSIVE. So our best case scenario, which is a recessive disease and a 25 percent chance of recurrence, has happened four times to someone else. It is a slap in the face - a wake up call - this can happen again. Just place your bets.

No good percentages (29 days)

There are no good percentages when it comes to genetic disease.

I remember my first meeting with out genetic counselor. She was talking about recurrence and what could possibly be the cause of our first son’s amazingly long list of medical maladies. She was saying things like “autosomal recessive” and “dominant” and “de novo.” She was talking about this big test called the micro array and how it would likely find the problem.
I was so overwhelmed with my sorrow that the numbers sort of swam around in the air in that little office. Nothing stuck. My baby was going to die, so who cares about the percentage? He would be 100 percent dead eventually.
But those percentages have been swimming in front of me ever since. Obviously, our situation was NOT de novo — or a sort of genetic, one-time “fluke,” because it happened again with our second son. So, what are the percentages? Is it 25 percent? 50 percent? More?
Now I have a new percent, a number never mentioned by any genetic counselor or on any of the paperwork I signed for my second son’s exome. This exome from Baylor has a 30 percent chance of finding the genetic issue that killed my boys. 30 percent. That’s it.
How do I know? The Interweb told me so.
Another stunning late night read is Eliza Strickland’s piece for science journal Ieee Spectrum, where this normal, healthy woman gets her exome studied at Baylor to see what exactly her genetic code says. Her exome was just for fun, and she seems to have gotten something out of it, but I am more interested in the information AROUND her exome experience — a sneak peek into the lab at Baylor and the unveiling of a stunning new percentage — Baylor’s exome has a 30 percent diagnostic success rate.


Just 30 percent. All this wait, all this worry, all this obsession for 30 percent.


From the article:
Baylor opened a commercial lab in October 2011 to provide sequencing services for doctors grappling with tough cases — patients who are on “medical mystery tours,” as Lupski puts it. The lab has a 30 percent diagnostic success rate, which means doctors can pinpoint, in almost one-third of the cases, the mutations in a patient’s DNA that are causing symptoms. That rate may seem pretty low. But doctors consider it a remarkable achievement, given the sprawling complexity of any human’s DNA and how little is now conclusively known about how our genes function. As Lupski puts it, “in this branch of medicine, we admit our ignorance a lot more.”

Read more about Strickland’s exome experience here:
http://spectrum.ieee.org/biomedical/devices/the-gene-machine-and-me

Sisters in Heartbreak (30 days)

I have found myself in good company in this grief of mine.

While I talk about my lost boys to no one but my counselor and sometimes my husband, I have found a network of women, my “sisters in heartbreak,” on some online forums.
What an odd world that we can find strangers from across the world who know us and understand us when we can’t relate to our friends and family just miles down the road.
These forums contain every topic you can imagine. We discuss loss and grief, menstrual cycles and ovulation, IVF and IUI’s, cervical mucous and miscarriages. We type in our own weird language of TTC (trying to conceive), IVF (in-vitro fertilization), TFMR (termination for medical reasons) CTT (carry to term) AF (menstrual cycle “Aunt Flo”) DPO (days past ovulation), etc...
We console each other in our reproductive failures and encourage the hopes and dreams of sustainable pregnancies that produce healthy babies.
Our stories are eerily similar and at the same time, oddly different.
There are the women who have been trying to conceive for years, are now reaching their mid-to-late 30’s and have decided to try IVF, only to realize the baby they wanted so much and paid so much money to conceive carried a fatal genetic disease.
There are moms like me, who went through this twice and somehow have living children who won the genetic lottery. Some have gone through the loss three or more times. Some are mothers of still born babies, mothers of children who lived  just hours or days after birth. Some are mothers who decided to terminate their much-wanted pregnancies because they knew their children would not live and would not allow them to suffer. Some are mothers who have miscarried over and over. Others are going through their fourth or fifth round of IVF, having sacrificed absolutely everything else in the pursuit of a child. Others are in the middle of the worst part — deciding what to do after a devastating prenatal diagnosis.
I read their stories, I cry with them, they cry with me. This is a club no one ever wanted to join. We are sharing experiences no one ever wants to hear about. You never know how you will be until you have gone through it yourself — this trauma to the soul.
I am luckier than some, worse off than others. I have a living child — others do not. Some have a diagnosis — I don’t. My insurance covered the exome — others don’t have insurance at all. Some get IVF in their medical package — I don’t. Some are 40+ years old — At 34,  I’m considered on the “young side” of advanced maternal age.
At the end of the day, though, we all dream the same dream — we just dream it in percentages and chances and recurrence and cycles. They hold their breath with me now in the final 30 days of my countdown. Thirty days. Thirty days.

Exactly 33 days and on schedule

The widget on my cell phone tells me we are exactly 33 days from E-day. At the same time, the “I’m Expecting!” app on my phone also informed me that I should be starting the 37th week of my pregnancy. I was supposed to be induced at 38 weeks.

In my grief counseling session on Friday, I discussed why I am so frantic for these results. The explanation is simple — if I were still pregnant - at 37 weeks - I would be doing all sorts of things to get ready for my son’s arrival. You know, buy diapers, formula, and clothes! Pack the bag for the hospital! Take pictures of my belly!
But I’m not doing any of those things.
There is nothing I can do for those baby boys now. Nothing. There are no diapers to be changed, bottles to feed, clothes to wash. All have is this drive to find out what killed them, to wrack my brain - the brain that I promise you did not get a degree in genetic science (I got a B- in high school biology, sorry Mrs. Trader) - and FIND THE ANSWER. Even though I know someone in Texas will literally HAND ME THE ANSWER in 33 days.

I feel like that’s all I can give them. It’s all I can give me.

I have been holding strong, but last week I broke down and called my genetic counselor (poor woman is a saint with my endless questions and theories). I asked if she had heard ANYTHING from Baylor, anything at all?
So she actually called Baylor for me and got a very “snippy” but firm answer. “Everything is on track and we expect results in the middle of April.”
Well, alrighty then.
The good news, if we are playing the Glad Game at 33 days, is that the exome is on schedule. And that is all I, and my genetic counselor, and the scientists at Baylor, have to say about that.

So the question from my grief counselor persists - What will become of the obsession once the exome is back?

We have 33 days to find out.

Sticking out the STUGs (36 days)

Last week was bad with a capital B.

I knew it would be: Wednesday was the anniversary of my grandmother’s death and Friday was the anniversary of my first son’s death. That’s a lot of anniversaries.
I felt prepared for it - I lightened my work schedule and planned around dinners. I pre-ironed my husband’s work shirts so I wouldn’t have to worry about it later.
But mostly, I felt OK. I allowed myself to sleep in on Wednesday after I dropped my daughter off at school and I had just decided it was time to get ready for work when I got the email.
It was from my best friend. She is pregnant with her second child and didn’t know how to tell me.

The email sent me into a tailspin - a screaming, crying, sobbing, unable-to-get-out-of-bed tailspin. I called my babysitter and asked her to keep my daughter overnight. The kid didn’t need to see me like that. I called my boss and said I wouldn’t be in to work. I called my husband at work and cried. Then I called my counselor and set up an extra session for Friday.
Then I crawled under the covers and cried for two days straight - then I went to counseling on Friday and cried some more. I cried and I cried until I couldn’t see from my dehydrated eyes, until I couldn’t talk from my raw throat.
This, my counselor tells me, is a STUG - a Sudden, Temporary Uprising of Grief. I have them about weekly, to some degree. I pass the cemetery and get a little choked up. I held a baby for the first time since I lost the boys the other day. I had to excuse myself to the bathroom to cry.
My counselor said that while my STUGs will level out, while they will become further and further apart, I will experience them for the rest of my life.
And so STUG management has become my new normal. But not since I lost my second son have I cried and carried on like I did last week. It overtook my whole self. I wanted my babies - one in the crib napping and one ready to be born any minute. I wanted the exome results. I wanted answers and solutions and a future that doesn’t include weekly STUGs.
I love my best friend. I want her to be happy and have happy, healthy children. I never would wish to take away even a drop of her happiness.
But the reality of her announcement is that she will have an easy pregnancy marked my baby showers and maternity clothes, and my babies are gone - the second one literally would have been due this week or next.
Her babies will be in her house, mine are cremated. She will buy Easter basket goodies for her children - I fill plastic eggs with gravel so they won’t blow away in the wind at the cemetery.
I feel very alone in my pain, though I know that many, many other women have faced my situation or worse. All I can do right now is wait - 36 more days - for this exome. How many STUGs will I endure until then?