Time To Come Clean – 97 Days Post Exome

It has been 97 days since I learned the word “Glycosylation.” Still today, I say the word out loud, let it roll off my tongue and out into the air, just to be able to say it, just to be able to know it.

We have begun to heal in all the ways people heal. We have plans to bury our second son’s urn, to buy his headstone and hold a small, private service. We go to the cemetery for their birthdays and death days. I cry a lot less.

Perhaps the most significant and terrifying change in our lives has been our big, big secret for the last 16 weeks.

I am pregnant.

Now settle down! I know about one half of people who think we are NUTS to do this again, and they are right. The other half of everyone thinks we are brave and lucky, and they are right, too.

Because of all the things we have learned from our trip through the genetic experience, we have learned hope and we have learned fear. Now one emotion never comes without the other, no matter what the genetic tests say. But I must say, with all my heart and all my being, thank GOD for the genetic tests. Thank God for the definitive answers, for the black and the white with no gray in the middle. Thank God for the yes after so much no.

Our third son is heterozygous – a carrier of his father’s mutation on chromosome 22, gene ALG12.

And he is healthy.

After three ultrasounds to confirm heartbeat and growth, my husband and I high-fived during a normal NT scan with a normal NT reading. Still taking nothing for granted, I underwent a CVS with no complications. Two weeks later we got the news – the baby is genetically healthy.

Last week we went in for an early ultrasound and saw our happy baby boy wiggling and waving. So far all his major organs look good – heart, lungs, brain especially. We go in for the average anatomy scan in four weeks.

I am happy – so happy and so blessed. But I never, ever want to downplay the chance we took in the conception of this baby. We played genetic roulette and we know it. Single gene recessive was our best case scenario and it is still terrifying. A 75 percent chance of success means very little when you have failed twice. This was a life or death decision – a certain doom if genetics went badly again.

As in every turn of this journey, our decision to do this again naturally – and we very nearly went ahead with IVF/PGD – isn’t for everyone. If you are a genetic carrier and you are considering natural conception and genetic roulette, please don’t plant my story in your head as a story of success. Your chances, while statistically the same as mine, must be weighed within your own situation, within your own genetic disease.

If you had asked me last year about another baby, I would have cried my answer into your shoulder – “I don’t know.” To family, we were blunt – no more dead babies.

Though I still grieve my boys every single day, my heart is ready for the child I carry now. This baby will not bring anything lost back to me. He will not replace my lost boys nor diminish their place in my heart. But he is part of the process of healing – he is what genetics gave after so much was taken away.

He is a miracle.

Confirmative - 1g

I didn’t know how relieved I would feel.

I just got the call — our first son shares the same two mutations as our second son. The test was confirmative — both boys had congenital disorder of glycosylation 1g. My matching bookends match completely, tragically.

When I think of my boys, I think of them as individuals. I dream that our first son was blonde and fair-skinned like his sister, but imagine our youngest son with his father’s Greek complexion and dark hair. I see our oldest son as being a bit stocky, and our youngest as being a bit wiry. I think of them - my sweet oldest and my stubborn youngest - as always together. I love them both so individually, but in a “my kids” sort of lump category. I see them almost everywhere I go. I love them with all my heart.

I sit here with mixed emotions. I feel bad for my relief, but what if (WHAT IF!?) that test had been negative? What then? Another exome? Another wait? More tests, more DNA? More paperwork? My relief comes from the answers, which do nothing to bring my babies back to me. But there is something wonderful in being able to say the word “glycosylation.” To wrap my head around it. To look at it as hard evidence of a killer. To know that even if my daughter is a carrier, she will have to look long and hard across this world to find another with a mutation on the same gene.

It is relief. Sad, sad relief.

Cause and confirmation

I met with our Genetic Counselor yesterday. My first son’s genetic test to confirm glycosylation is due on Monday from Baylor.
My high risk obstetrician was in the room and she asked if there was any chance my first son’s DNA might be a mismatch to my second son’s exome.

I probably should be more concerned about this, to be honest. I don’t know what the implications on my life and sanity would be if that test came back and my first son just didn’t have congenital disorder of glycosylation 1g. What of our big “answers” then?

But looking at the big picture, I think our GC is right. This test is confirmative. Both boys had the same or very similar defects. Even without looking below the surface to the chromosomes and genes, you can see the way the brothers matched each other: The neural tube defects with a Dandy Walker variant in one, Dandy Walker in the other; the heart defects with both having ASD and VSD; the recessed jaws, the renal problems...
Of course my first son also had hand and foot deformities. My second son had a severe diaphragmatic hernia.
But when I think of my boys, I think of them as bookends — a tragic matching pair. I agree that this test is confirmative. If it exists to do anything more, it exists to prove me wrong.

The days are warm and cold here, a perfectly flawed northeast Ohio spring. It was raining through the sunshine on our drive to the Cleveland Clinic yesterday. It has been 58 days since our exome diagnosis. I kept the widget on my phone running - who knows why. It keeps my mind on my boys.

My boys. Represented in my life by my brief memories, a memorial necklace around my neck and a handful of genetics reports. On Monday I’ll get to add another to the pile, to my first son’s box of memories and momentoes. Wherever these angels of mine are, I hope they know the impact they had on this world, the difference I hope we all make to someone with the prenatal diagnosis of 1g. I will not let their legacy be as small as the micro deletion that killed them.

Exomes as prevention

There is something hiding in your DNA. There are couple of things I’d like to take issue with in my own genetic code, but alas, we have no say in the mistakes, flaws, mutations and additions to our genes.
My boys had flaws on Chromosome 22 - a result of the unfortunate genetic mash-up between their mother and father. Their chances of being affected - just 25 percent - and their chances of survival  - zero percent - shows what road maps our exomes can be.

But exomes aren’t just for affected babies and their parents. Answers can come for the healthy and living, too.

Actress Angelina Jolie made big headlines this week with the news that she underwent a radical double mastectomy because she carries a fault on gene BRCA1, which increases her risk of breast cancer and ovarian cancer. Her mother died of ovarian cancer at age 56. In her New York Times op-ed piece, Jolie notes that her chance of developing breast cancer was 87 percent. She also has a 50 percent chance of developing ovarian cancer.

“Only a fraction of breast cancers result from an inherited gene mutation. Those with a defect in BRCA1 have a 65 percent risk of getting it, on average,” she wrote.

I can’t speak for what “most women” would do if given the same odds, but I can say that a double mastectomy before a cancer diagnosis is not something I think insurance companies would eagerly cover, leaving most at-risk women to self-test at home and worry. In fact, I wrote a story for my local newspaper in 2009 about how the United States Preventive Services Task Force tossed the standard of mammograms at age 40, instead recommending women get their first mammogram at age 50.
The doctor I interviewed said he wasn’t concerned about fellow doctors supporting early cancer detection for women at age 40.
“It is the insurance companies I am worried about,” (he) said. “I am concerned insurance companies will take this study and turn it into an opportunity to decline to cover mammograms. That is the concern.”

I wrote on this blog about how expensive exomes are, but how beneficial they could be to the people who need them most but can afford them least. This is not a test run for “no reason” or because your mother died of cancer. There is a consensus among my doctors - most of them stunned that the test was covered for us - that our insurance company simply didn’t know what the exome was, that it was coded as a genetic test like all the other genetic tests we had ordered, and that they literally ‘didn’t know to deny it.’

I’m certain that Jolie, who wrote of her concern about the genetic line of cancers in her family, didn’t think twice about having the genetic testing - at an average cost of $3,000. I’m certain that if her health insurance denied a non-medical double mastectomy, she was able to fund the procedures herself.

The question is - who should decide if you get an exome? A doctor? An insurance company? You? Who should make the decision about a double mastectomy or other “elective” surgery? Should the discovery of the faulty BRCA1 gene make the decision? Will testing for that gene become as common as mammograms for prevention?

“For any woman reading this, I hope it helps you to know you have options. I want to encourage every woman, especially if you have a family history of breast or ovarian cancer, to seek out the information and medical experts who can help you through this aspect of your life, and to make your own informed choices,” Jolie wrote.

But I am skeptical that it comes down to a woman’s own “choices.” Given my own rocky experience with making my own “choices” about my health and body and children around laws and regulations written for women who make elective choices instead of necessary ones, I don’t buy it. If the state of Ohio cared about me and my situation, I would not have had to seek health care in Pennsylvania from doctors I didn’t know or trust. My experience was a nightmare plucked straight out of a horror film and it was directed by the law makers of my state.

I don’t believe they can be trusted to let women make these sort of choices about their own health. Mark my words - radical double mastectomies will go from being viewed politically as the smart choice of brave women to become the superficial choice of women who want free breast implants.

But wait! What about the blood test? What about pinpointing BRCA1 to make the determination?
I have a diagnosis on gene ALG12. If I got to week 22 of an affected pregnancy, the proof of that blood test would mean NOTHING. There is not a health care professional in Ohio that could help me.  I would pack my suitcase and go back to the chop shop in Pennsylvania. Because that would be my only “choice,” genetic finding or no genetic finding.

More people need exomes. More insurance companies need to cover exomes and the procedures they dictate after findings. This is serious science that can not only save lives, but direct us down our individual medical paths toward longer, disease-free lives. I’m not talking about just prenatal glycosylation or breast cancer — heart disease, prostate cancer, liver disease, kidney disease, Cystic Fibrosis, Alzheimer’s! Imagine if the disease that killed your grandmother could have been prevented 20 years before her diagnosis. Imagine what that would have meant for her, for your family.

For the record, I think Jolie made the right choice, but my heart hurts for the hardworking Ohio women who will never have the benefit of preventative genetic testing or the surgeries that could save their lives.

The Still Point of the Turning World

In the middle of my exome madness, in my daily blanket coverage of the internet and all things related to DNA/exome/Baylor/genetics, I stumbled across the book “The Still Point of the Turning World” by Emily Rapp.
Rapp’s 6-month-old son, Ronan, was diagnosed with Tay-Sachs, a fatal autosomal recessive disorder with no treatment and no cure. He died just before his third birthday.
The book is astounding. It reaches deep into my chest and puts words to my grief. I always feel a bit crazy in my thoughts - like I wonder why people are so afraid of me now. No one wants to talk to me, in case I should burst into tears or want to talk about something unpleasant, like grief or dead babies. Nobody wants to be the person who makes the Dead Baby Girl cry.
Rapp explains it. She writes about the Earth-shattering moment after diagnosis and the total devastation it leans on a life, on a marriage. She writes about those days of uncertainty - the what in the world are we going to do? times. She writes about the things no one can relate to until they experience it for themselves. We mothers of the dead all have the same, different story, but no one can stretch their imaginations around the horror of it all until they live it and NO ONE wants to live this.

A quotable quote from the book:

"Grief, we understood, would now hijack a part of our day for the rest of our lives, sneaking in, making the world momentarily stop, every day, forever."

One of the most interesting things about Rapp’s story is that she was prenatally tested for Tay-Sachs. Her husband is Jewish, so he was high risk for carrying one of the common mutations. Rapp decided to be tested and she was told that she was not at risk to pass on the disease (recessive = two parent carriers).
BUT (always that genetic BUT) it turns out she carries a rare, Moroccan mutation for Tay-Sachs, a mutation so rare that it didn’t show up on the prenatal screen.
The book shows a lot of Rapp’s background in academic literature. She goes on and on (and on) about her favorite classic books and how they related to how she was feeling. But that dialogue got in the way of her story, dragging it down to the point where I found myself skipping these parts in anticipation of more information about Ronan.
Rapp does discuss Ronan — his decline, the way every moment with him was heartbreaking and precious at the same time, the way it forces parents to live their lives backwards, grieving before a death while they wait for death.
But there are some missing parts that I, as a reader, found a little maddening.
A part of me wanted this book to be a roadmap of grief — a tourist’s guide to how to live when you want to die. I wanted to read about her relationship with her husband — did they disagree on treatment? Did they grieve differently? I wanted to read about how people treated her — was she the Dead Baby Girl at parties? Did she lose friends who think Tay Sachs or dead babies are contagious? Were there any insurance issues, how did they pay for everything? I understand how this experience changed her, but how did it change the world around her to a new experience? Will they try for another baby? Will they do it naturally?
The book, finished before Ronan’s death, also stubbornly omits the details of his death. In an interview with NPR, Rapp said she left that out to maintain some privacy in her situation, which I think I can understand, but who really writes a book about a dying child and they doesn’t discuss how she felt, how she coped, when he actually died?
Rapp also mentioned in the NPR interview that she would have chosen to terminate her pregnancy if a diagnosis had been made prenatally. But she doesn’t address this revelation in the book.
But maybe that is just me, looking for validation.

The book “The Still Point of the Turning World” by Emily Rapp is available at Amazon.com.

Awww, crap.

Awww, crap.

I did it again. I read too much. I Googled one too many times. I’ve filled my brain with the worst of it again.

I have been pointedly ignoring the Google search bar lately. There is a part of me that doesn’t want to know any more about glycosylation 1g. WHhAAaattT? cry the masses! YOU don’t want to KNOW? YOU don’t want to READ and RESEARCH and KNOW!?!?

That’s right. I know what my genetic counselor and Wikipedia told me on E-Day, and that’s as far as I have taken it. My boys are dead and I know what killed them. The truth of it is that there isn’t much to read. There are 10 (now 11) recorded cases of 1g. Those cases have across-the-board anomalies. Just two (in sibs) presented heart defects. BOTH my boys had heart defects. Dandy Walker is also a mentioned presentation, but not in all cases. The problem is this: There aren’t enough of us to survey to fit into symptoms. This is a syndrome that is “syndromatic,” meaning that there is this and that problem and they all add up to something, but no one is sure what that something is until a genetic test confirms it or an exome finds it.
The only thing that is really consistent about glycosylation 1g is that all the babies died. ALL OF THEM.

So I made the decision to choose peace, to enjoy the high of diagnosis and just live in the relief. I pinned to Pinterest instead of worrying about genetics. It was a lovely vacation from being me.

Then I had to read something about it. Not so much about glycosylation, but more about recurrence. This is hard to nail down statistically for all the same reasons it is hard to stuff these poor dead babies into syndromes using birth defects. There just aren’t enough of us to know.

Of course I found something, mostly because I wouldn’t have stopped looking until I found SOMETHING.

www.ncbi.nlm.nih.gov reports:

In the autosomal recessive disorders, the theoretic risks to each sib of an affected individual are, at conception: a 25% risk of being affected, a 50% risk of being an asymptomatic carrier, and a 25% risk of being unaffected and not a carrier. However, based on outcomes of at-risk pregnancies in families with a child with PMM2-CDG (CDG-Ia), the risk of having an affected child is closer to 1/3 than to the expected 1/4.

What?

You mean to tell me that the rarest of rare diseases diagnosed with a previously undiscovered micro-deletion presents itself in an above-average recurrence than the assumed autosomal recessive theory?

Of course it does.

Now the question is: Does the 1/3 recurrence risk carry across all 19 variables of glycosylation? This study quotes 1a, which is the most common and the mildest form of glycosylation. Does it mean the same for 1g? Or again, are we too rare to know?

Damn you, Google. You win again.

Looking back, moving forward

The last two weeks have been good to me.

I woke up this morning and realized that I have not had a panic attack since E-Day. The panic used to wake me up in the middle of the night — that crushing feeling in my chest and the certainty that I wouldn’t get through the night. This feels like a milestone to me, and I haven’t had many milestones since my second son died.

Yesterday my genetic counselor called to follow up. Good news: Baylor College of Medicine will not only test my first son’s DNA in an attempt to confirm the glycosylation killed both boys, but they will do it for FREE. All I have to do is sign the paper and write a $25 check for DNA transfer.

Of course I had to ask the question no one wants to think about: WHAT IF my first son’s DNA shows no glycosylation? What then? What if that really teeny tiny deletion on my husbands half of his genetic makeup isn’t there? Then what?

“I think that is our fear,” the GC said. “But we will cross that bridge if we get to it.”

How quickly this mama’s mind jumps to genetic disaster!

I also received my summary of care from the clinic, which sort of briefs up the total visit with genetics in case I forgot anything or have any questions. These summaries are fantastic for me. I keep them and read and re-read them because they are, in a way, like the maps through this journey. They show all the dead ends we have met in “going to the wall.” This last summary shows that we reached out and touched the wall and got answers. It is the X that marks the spot.
In the summary, there is a note that my first son’s DNA (tested via microarray) clearly showed my Chromosome 22 mutation (rare, but discovered), but not my husband’s, as it was too small and completely undiscovered and not on the map of things to look for.
Now I can take some very small comfort in the fact that it is discovered now, that someone out there who may only get to the microarray testing of Chromosome 22 will have the benefit of the discovery — a benefit we did not have. If this had been discovered sooner, we would have known what happened to our first son at the microarray and had answers nearly a year earlier.
I’m here to tell you that at my advanced maternal age of 34, a year makes all the difference in the world.

So here’s to another two panic-free weeks in the Ohio sunshine (I hope). And thanks to the ladies who commented on my last post. A writer is only as lucky as the readers who read, yes?

What would you do?

One in four. One in Four. One in FOUR. Twenty-five percent. Seventy-five percent. Risk. Gamble. IVF. Recurrence. Success. Termination. CVS. High risk. Paint the nursery. Order the headstone.

The words run through my head like a news ticker. All day. All night. What should I do?

What would you do?

In the days following our big exome reveal, the shock sustained by our hearts has settled beyond the autosomal recessive recurrence risk. I’m not sure if I would say that our thoughts have extended beyond the understanding of the genetic gamble or if I would describe it as not having gotten any farther than the sheer statistics of our situation.
If I am a carrier of a very rare mutation, a ONE IN A MILLION mutation, and my husband is another one in a million (though it is more rare than that, he is the ONLY known mutation), plus the chance that we would meet and mate, and then the one in four chance of affected pregnancy - holy crap that’s a sad statistic.
And it isn’t fair. Not that any part of this journey has been fair, but come on! I never win the lottery. Heck, I never win a prize basket at the local animal shelter spaghetti dinner. I am never the one in a million. I am never the one in a thousand. Of all the things, of all the ways to be the ONE, why do we have to each be THE ONE and then be THE ONE together?
Thinking about it makes me sad and tired. It makes me irrationally, explosively angry. It brings out a new wave of fresh grief, on a new level of grieving.

Let’s break it down: One in four for any disease is the same outcome, depending on your luck. But one in four for the ultra-rare variant that no one else in the entire world must suffer is mind-bending. I don’t know where to start in untangling this knot of reasoning in my mind.

Let’s get to the action part of this situation - what do we do? Try naturally and roll the genetic dice? It was a 75 percent chance of success the last two times and that didn't happen. The genetic counselors are careful to stress that it is a one in four chance with each pregnancy regardless of the outcome of the previous pregnancy. So, yes, one in four of affected baby, but three to one for a healthy baby.

IVF/PGD? Well, let’s take out a mortgage on the house, shall we? At $15,000 to $20,000 a pop, IVF is a not so fun way to throw money at the problem. I do want to say that it is nice to have this as an option because a lot of people don’t have a diagnosis and I do, which means I have a shot at it. Some people would pay double for this shot. This is the money that puts that addition on our house. It’s the money that sends our daughter to college. It is our retirement, which I’m guessing we will need someday. Or it is IVF, which may or may not work. A lot of ladies like me have no trouble getting pregnant naturally, but then spend $20,000 on science and it fails. Heartbreaking.

Do nothing? What if - and stay with me on this one - what if we just didn’t get pregnant again? What if after all the stress and struggle and science to get the exome with diagnostic results and we just didn’t use it? What if I get a prescription for birth control instead of a referral to an endocrinologist? I don’t think I would regret this decision in the short term. Long term is a different story. I don’t want to be 37 or 39 or 42 and figure out I desperately want a baby.

So readers - are you out there? I’m breaking the third wall and asking - if you were in my very special, one-in-a-million situation, what would you do?

The rarest of the rare - a diagnosis, definitive

"We found it. We found it," our genetic counselor blurted out. "It's recessive."

And I started to cry. And then she started to cry. So we cried.

For the last 34 years I have been carrying a rare mutation on Chromosome 22, gene ALG12. My husband has spent his 32 years on this Earth carrying the only known mutation of its kind, also on gene ALG12. This causes, specifically and definitively, Congenital Disorder of Glycosylation type 1g - a rare and fatal form of a rare disease, caused by rare mutations on rarely affected genes. There are 500 known cases of glycosylation in the world. Our type - 1g - has only 10 (now 11) known cases. In all cases recorded in medical literature, not one of the babies survived.

"Literally, there is a one in a million chance you carry a mutation on this gene and then for the two of you to find each other..." the GC said.

Factor in the 25 percent chance of affected pregnancy - multiply that by two - and you have some really big numbers and some really sad statistics.

So I hold the exome data from our second son in my hand - a scant six pages of heartache and wait and worry. The printout tells the tale of a little boy who would never be born, who would never grow or play or cry, a little boy who held mutations on five other genes for four far more common autosomal recessive disorders and was a carrier for the dominant Cornelia DeLange syndrome - and the rarest thing, the thing no one in Vegas would have worried about statistically - ended his life and our dreams for him and his brother.

We spent all of yesterday trying to wrap our heads around this new information. First, I think, is the stunning realization that the exome found the cause. We had a 25 to 30 percent chance of diagnosis. Of the 30 exomes reviewed by the doctors at our hospital, ours is one of the few to offer such helpful information.
Then, out of the doctor's office and at a ironic hipster coffee shop, we wrapped our hands around mugs of warm chai and wrapped our heads around our future. The autosomal recessive 25 percent has always been our "best case scenario," though we've lost this gamble twice so far.
IVF with PGD is a possibility for us now. Cost is a huge factor, and so is the time frame. It would take weeks to begin the process and for doctors to begin the PGD probe that would find potentially skewed genes in our embryos. But, that said, I'm not sure I would be ready for a pregnancy any sooner than that, either.

I think the one thing that is most notable to me at the end of the exome is the blanket of peace that seems to be tucked around our little family now. The diagnosis in no way brings my babies back to me. It doesn't change any outcomes. But knowing what we know now, saying that we have the information, that we took this to the wall for our boys, is like balm on my still-raw heart. I have so struggled with this unknown killer - was it me? Was it my husband? How could this happen with no prior family history? My questions are answered and there is a calm in my mind and a stillness in my soul that I welcome with all my heart. This is peace. The decisions we made as new parents of lost boys were the right decisions. We have been validated in all the ways every parent hopes to be validated. No one can tell us otherwise.

This is not the end of our genetic journey, by the way. Far from it.
Baylor will now retrieve our first son's banked DNA for comparison to our second son's exome, to confirm - once and for all, that this is the gene mutation that killed both boys. This will put a diagnosis once and for all on the syndromatic physical evidence from MRI's, ultrasounds, genetic testing and autopsies on both boys.
We have been approached by the lead geneticist at our hospital, as she would like to write a medical paper - to be published in a medical journal - about our boys and our genes and our exome. We have also consented to an interview with a major metro newspaper to tell our exome story. This only furthers what I hoped to do with this blog in the first place - to shed a beam of light on the medical and very emotional journey of the exome - what it means for people, for families like mine, who never dreamed they could be so touched - and so saved - by science. I hope that the brilliant minds at Baylor College of Medicine and all the other major and minor players in the world of Sanger sequencing keep congratulating each other on the successes of the exome process, but also take a minute to remember that the results are as emotional for their patients as they are significant for science. At the end of the day, exomes are for people, not just scientists. Exomes may save lives, but they also heal souls.

Keep an eye on this blog space - I'm not done with this journey.

The long end to a long wait (2 days)

I woke up this morning feeling like the sky was going to crush me. The anxiety of the day is overwhelming. I nearly passed out in the shower - I tremble as I type.
The weekend was fine, but mostly because I was insanely busy with a family visit out of town. But back home, in my own bed, with my own laundry waiting for me in the washing machine and my job beckoning, I became crippled by my own thoughts.
Two more days.
My genetic counselor called on Friday to tell me that the Baylor lab had finished the exome and was awaiting a sign-off by the medical director there. The report will be released today or tomorrow and we meet to go over the results on Wednesday.
After 96 days of countdown, it is here. It is here. But now I have to face what comes with the “here and now.” Either we find out what killed my boys or we don’t. It is a classic situation of THIS or THAT. CUT and DRY. BLACK and WHITE.
That said, I got the “but” from my genetic counselor.
She warned me, again, that the test could come back without answers. Of course they will have found everything they can find as of now, but what the clinical significance of those findings mean could be unknown.
She also noted that the exome could uncover “other issues,” meaning that our son could have been a carrier for Cystic Fibrosis or another recessive disorder. Lots of little things that could mean a lot or nothing could rise to the surface of our genetic pool.
So I am going to spend the next two days jotting down all my questions for the genetic counselor - what does THIS mean? What does THAT mean? Can we cross-reference or target test to see if the findings in my youngest son match anything in the genetics of my oldest son?

I need strength. I need peace. I need answers.

Screw the countdown! The exome is back!

My genetic counselor just called - the exome is back! We go in for results on Wednesday! aaaauuuaaahggggahhhaaahh!




OK - seriously - new countdown -  5 days!

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?

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.

Well, this still sucks

Oh, how I wish I could stop being me for a couple of days. I drive myself nuts. I put a “widget” on my cell phone that counts down the days until April 19. We have 89 more gut-wrenching, attention-stealing days to go, thanks for asking.

I am at a place where I am desperate for a baby. This desperation has led my dear husband to assume that I mean any possible baby. How to explain?

No, I do not want to use a sperm or egg donor. No, I am not interested in adoption. I want OUR baby. I believe that adoption is something people feel “called” to do. I do not feel so “called.” It wouldn’t be fair for any child who could be loved by someone who had those driven feelings to get me instead.

The thing that is eating an acid hole in my esophagus right now is IVF. IVF with PGD is an absolute last resort for me. I don’t want to do it. I want to do this the good old fashioned way, and it dawned on me that if that is my desire, then why are we waiting another 89 days for exome results if all I want to do is try again naturally anyway?!?

Let’s just say conversation with husband regarding this new train of thought has not gone well. He thinks I am stubborn. I think he is unreasonable. We are both pushing each other toward things we know the other does not want. I believe we are at an impasse, AND WE DON’T EVEN HAVE THE EXOME RESULTS YET!

I have come to a place in my grief where the unfairness of it all has overwhelmed me. This is not how my life was supposed to be. This is not just the complete obliteration of a life plan, this is the complete obliteration of my personality — of my own self. So now I am set in this impossible place between the realization of unfairness, my completely unrecognizable self, and test results that could mean everything or nothing.

I may not make it past these next 89 days with my sanity. This is like “The Yellow Wallpaper” all over again.

96 days and counting...

It has been a rough couple of weeks. I have been tossing and turning at night, certain my insurance company must have screwed something up (or screwed me over) in the coverage of this exome from Baylor College of Medicine.

After a day of breakdown (crying, sobbing, really trying to live in my bed), I got the call I have been waiting for — the exome process has begun.

My genetic counselor said the test began on Dec. 19. It should be finished on or about April 19 (which is 96 days from right now, in case you are counting with me).

I felt like I might have been able to breathe for the first time in two months if I hadn’t been in the middle of a panic attack.

April 19!

We also discussed target testing for thalassemia, because the more I read about it, the more it makes sense in my case. We discussed single gene disorders and possible outcomes. We discussed my grief therapy.

Now for the genetic “BUT,” because there is always a “but” in the middle of every one of these genetic conversations.

“I’m hopeful for you,” the counselor said. “I just really hope we can come to a conclusion for you and your family. BUT REMEMBER that there are is a very small chance that this exome could come back with nothing.”

Wait, what?

This is IT. This is THE TEST. “Cutting edge technology,” the doctors tell me. If the exome can’t find it, then it can’t be found.

What then?

I have long understood the implications this test will have on my life. I am prepared for total depression when the results come back, almost no matter what the results reveal.

If the problem is genetic - dominant, recessive or x-linked, my Hubby will want to do IVF with PGD, which I don’t want to do. He will want to make certain, very, very certain, that we will have a healthy baby.

Let’s say it comes back clean. No problems. Do we go forth and procreate knowing that there is a chance that this latent genetic mutation could strike again? There will be no IVF with PGD because there will be nothing to look for — all the tests always come back with a normal karotype. All the amnios and CVS’s will be moot.
So that means we do what we have done before with zero success — we wait until 11 weeks for the NT scan and then have an early anatomy scan at 14 or 15 weeks.

It is a leap of faith we have fallen with twice before.

Now I guess all I can do is wait, which is the hardest thing to do. I can’t wait for a time in my life when I don’t have to think the word “exome” every day.

An only child, with brothers

I often feel alone in my struggle with this unknown. I know this has happened to other people, that other women are out there, crying my tears, missing their babies. The great question, asked again and again, never answered — Why?

I sometimes forget the collateral damage in my own circle. My husband, who fell apart with the death of our first son, has been holding me together with emotional duct tape since we lost our second baby. We talk about it, of course. We tearfully remember the boys we never really knew, we look at the tiny ink footprints made by the nurses in the hospital, one pair so much bigger than the other, but both sets still so incredibly tiny.

And then there’s the big sister in all this — our 6-year-old daughter. She so desperately wanted to be a big sister, she was so excited about both her baby brothers. She has lived this painful year with us, quietly watching us bury our boys, quietly insisting she is still a big sister.

The impact of these losses for her is most clearly seen when I’m not really looking. I asked her where she wanted to have her birthday party — her answer? In the cemetery so her brother could be there. She asks her friends if they have brothers at the cemetery, too. We pass the place where we bought the memorial stone and she says, “Look! It’s the cemetery store!”

I felt it again today when Hubby took her to get her bangs trimmed. Always chatty, our little girl was discussing important matters with the hairstylist when the innocent question came up.
“Do you have any brothers or sisters?”
Oh, yes, she says. I have two brothers.
“Are they big brothers or little brothers?”

*Her father holds his breath for her answer*

“Neither. They’re dead.”

Her answer has far-reaching implications on her mother’s emotional state. Once this exome comes back - no matter what the findings - we have a decision to make. Do we try to give her the sibling she wants so much? Do we decide what we have - and what we have lost - is enough? Will I have to tell her “the baby died” a third time?

I am absolutely sick over - and guilty of - crushing her world, and I don’t want to do it again. I need the science to save me.

An inheritance pattern bust

Back to the drawing board.

I know I shouldn’t try to beat the exome results to the punch, but this mystery is meant to be solved. As I mentioned before, my husband caught wind of a lead on a cousin who may have had similar problems (two dead babies, late term).

Turns out, it was much ado about nothing. Yes, she lost babies, but her children were not full term and had no birth defects. Doctors (15 years ago) suspected blood clots, but no additional testing was done. One baby was a boy, one was a girl.

So besides now having a person to commiserate with over dead babies (and the rest of the world that doesn’t understand the impact of dead babies on emotionally trampled mothers), I have no new information.

Square one, my friends.

I have spent several nights in the blue glow of my iPad researching Thalassemia.

What is Thalassemia?

The thalassemias are a diverse group of genetic blood diseases — the most common inherited single gene disorder in the world.

But what does this blood disorder have to do with my babies? Google thalassemia + ambiguous genitalia. Then thalassemia + micrognathia. Then thalassemia + cystic hygroma.

They all hit individually. It happens. No one study, no one Google search will bring up every one of my boys’ defects, but search for them individually and there they are.

Now, let’s discuss the BUT. (There is always, always a BUT in my genetic train of thought). If thalassemia is “the most common inherited single gene disorder in the world,” wouldn’t this have shown up in the micro array done on both boys? Wouldn’t this be one of the many things the many genetic tests would catch? Somewhere in my  late-night research I noted that there are a few “undetectable” forms of thalassemia. Could the exome find them?

The other fun, fun, fun thing about thalassemia is the inheritance pattern — it can be dominant or recessive and x-linked. It is a genetic jack-of-all-trades.

And again there is no inheritance pattern, other than the cousin’s completely unexplained losses (also noting she has two healthy children - a boy and a girl), in either of our families.

I know that I very well may get the answers I need at the end of the exome and that chasing the genetic “maybes” may be doing me more emotional harm than good.

But how do you just sit around and wait for the answer that could change your life?

Chromosomes are expensive

Genetic studies are not for everyone. How do I know? Because they are prohibitively expensive. It strikes me that the people who need this testing the most — people with affected children, people who have been through multiple terminations for medical reasons or have had multiple dead babies — those are the people who likely can’t afford specialized, targeted testing.

As one “well meaning” person said to me, “What does it matter if the baby is already dead?”

I guess that is the big question for insurance companies, too. It rolls out like this — the exome testing via the Baylor College of Medicine costs about $12,000 out of pocket. That’s a small car! Because our insurance company (bless them) decided to cover the test, it would be about $3,500 out of pocket. BUT if the billing comes from the our hospital instead of Baylor — meaning we pay the hospital and the hospital pays Baylor — it is “in PPO” and we pay $750.

* As a snarky side-note — the insurance company covers $12,000 in genetic testing for the benefit possible future babies if we want to take the risk of having more. BUT they will not cover IVF or pre implantation genetic testing. BUT they will cover terminations for medical reasons. BUT they don’t cover Mirena intrauterine birth control if I don’t want to take the risk. Smarter people than me must be making these decisions. The medical code also suggests that the mothers of dead babies don’t need counseling, BUT it will cover anti-depressants if they need them.

Now what if our insurance company said no to the exome? That would have left us with three options — ignore the fact that some gene in myself or my husband leaves our children incompatible with life OR pony up $12,000, OR sign up for a research study.

I haven’t done much research on research studies, mostly because I didn’t have to — my insurance company said “yes,” and did said it without a fight. Research studies, if you meet the criteria, are free or mostly free for the patients. The cons, if you will, include the length of time for results (a year or more as compared to four months). My genetic counselor also mentioned that the study looks for what the study needs — not for what you or your geneticist might be looking for.

And no matter what, the findings are subject to “human interpretation.”

At the end of the day, private exome testing costs dollars and a lot of them. Keep in mind that my disastrous year of dead babies (two in eight months) included two surgeries and millions of dollars in diagnostics. I hit my out-of-pocket maximum ($6,000) plus my monthly deductible, plus my CO-pays. AND my husband didn’t have the healthiest year, either. We will write off his out-of-pocket maximum ($6,000), too.
All in all, my wages for this full year paid for most of what we owe in medical bills.

The good news is that exome sequencing is getting cheaper all the time. Years ago, Steve Jobs (think Apple) had his exome done for $100,000.

But I don’t think he had to worry about how to pay for his “out of PPO” costs.

Coping (or not)

Coping (or not)

Beyond the exome - and I swear to you this not-yet-started test takes up 80 percent of my thought process - I would be remiss to ignore the process of healing my destroyed soul.

When I say I have grieved, that I am still grieving, it is an understatement.

Oh, I get out of bed in the morning and make Hubby's breakfast. I get the kiddo to school. I go to work. I clean the house and make the meals.

I function, but it ain't pretty.

In the last two months, I have lost 23 pounds from my 126 pound self. I sleep with the help of an anti-anxiety pill, which sometimes works and sometimes doesn't. Now, in the latest cliche, I blog late into the night. Oy.

After my insurance company denied me grief counseling, I sought the help of a professional who referred me to a free counseling center. I have to drive an hour to get there, but I go once a month.

I will say that there is something wonderful about discussing my feelings with a counselor who only deals with grief. I am not a puzzle to diagnose here. We both know why I am sad and we both know she can't bring my babies back to me. But she makes me feel less crazy.

For instance, I am not suicidal. I feel the need to assert this fact to every doctor I see. I want there to be no misunderstanding - I will not take my own life.

But it would be absolutely fine by me if I didn't wake up tomorrow morning.

This, apparently, is a normal response to extreme grief.

But how exactly do you verbalize the death of two babies? How to you say, "I lost two babies in seven months. I had to tell my child her sibling died TWICE. But don't you worry about me...I'm doing just fine."

I will never recover from this. I know that sounds self defeating, but it is my honest truth. The woman I was on this day one year ago is gone and she can't come back. I know my family is waiting on me to snap out of it, and I know they think they are being patient with me until I come to my senses. But I also know that there is a part of me that is over. Even if, and IF is the million dollar word around here, even IF I got pregnant and had a healthy child, I can never go back to the me that existed before my boys died.

I guess the fallout from that truth remains to be seen

Genetics under the Christmas Tree

I have been chasing the ghosts of my ancestors' dead babies.

The thing about genetics is that it doesn't just belong to you - it belongs to everyone who came before you and it belongs to the generations that come after.

If you are living this particular Hell, you must be doing what I do at family gatherings - look to the left and then to the right. Why did this happen to us instead of to my cousin? I wouldn't wish this on anyone, but in a room full of people with my nose and wide forehead, why did I have to inherit and pass on a deadly genetic mutation? If it isn't me, then it is my husband's genes that are betraying us. Why didn't his bachelor cousin end up with this?
Why us?

This year, like a present with a bow, I may have gotten some answers.

We have asked and asked our families to disclose any stillbirths, miscarriages, fertility issues - anything that might help solve this mystery.

Oh, no, they all said...no answers here OR there. I spent a month chasing down my elderly great aunt looking for an x-linked pattern. I never found it. My mother's mother had some odd fertility patterns, but she also had four children (one boy) and a brother. My mother had one very early miscarriage, but had four healthy children (and two were boys).

My aunt also had miscarriages, but far from full term.

My great grandmother had two miscarriages and a stillborn. AhHa! You say, but that was a dead end, too. The stillbirth was caused by a fall from a ladder while she was painting the house.

The truth of the matter is, I'm not looking for miscarriages. My babies were full term. There are no tiny graves on my side of the family.

Anyway, back to Christmas, where Hubby gets into a discussion with his cousin about his batty wife's inability to hobnob with the in-laws while grieving for her dead children.

Turns out, there is a cousin on his side who also lost babies. FULL TERM BABIES. We are awaiting a phone call from this cousin because we need answers - one baby died at 20 weeks and they didn't know the sex (ambiguous genitalia?). Someone said maybe it had something to do with folic acid (neural tube defect?) I am on pins and needles for this phone call.

I just want answers. I just need answers.

Initial information is uninformative

I received the paperwork for the DNA banking and a request for an $88 check to begin the process of beginning the process of starting this exome.

I sent it immediately, driving to the post office in the snow to mail it before days' end.

What is this step? We banked DNA from both babies in the hopes something could be found genetically SOMEDAY.

Today is someday, I suppose.

This banking, along with blood samples from myself and my husband, are the tools necessary for this exome.

This initial offering of paperwork did not include any answers to any of my questions, though my heart leaped into my throat when I saw that envelope in my mailbox.

A few points of frustration:

I was told the insurance company would give me an answer about covering the exome in two weeks. Instead, it took them nearly two months.

We still don't have a start date for the exome work.

The autopsy on this baby showed almost nothing as far as findings, because he was too small.

It will take four months - until April or May - for any results to come back. I feel as though I may die of frustration or sadness before I find out what killed my little ones.

Back story

So here is a little back story...

Last year I found out I was pregnant. It was a planned pregnancy with no complications until 20 weeks, when we were told our baby had severe structural abnormalities, including micronathia (small chin), rocker bottomed feet, overlapping fingers, two heart defects, ambiguous genitalia, fluid filled kidneys and a neural tube defect that presented as a Dandy Walker variant.

The baby died.

Before his death I underwent an amniocentesis, which provided the DNA for three rounds of genetic testing - the FISH, the SNP, and a microarray. We also target tested for Smith Lemli Oplitz Syndrome. All tests came back normal.

Given our lack of family history, the assumption was that the problem was de novo, or a genetic mutation that was new and unique to that baby. We were told that there was no reason we couldn't have a healthy baby.

We tried again and got pregnant immediately, but it was a blighted ovum.

Without missing a beat (or getting a period) I became pregnant with our second child. Now no strangers to genetic issues, we insisted on targeted ultrasounds and every screening available to us. At the 12 week early anatomy scan, we discovered an increased nuchal translucency of 5 - a soft marker for chromosomal problems. Two weeks later we found that the baby had all the problems as his brother, including a severe diaphragmatic hernia (his stomach was in his chest cavity) and cystic hygroma (a big fluid filled cyst on the brain).

The baby died.

Again, all our testing showed no problems with chromosomes...no deletions, no additions, no trisomies, no translocations...

The mystery baffles us all.

Then, miracle of miracles, our insurance company approved an exome sequencing of the second baby's DNA. The autopsy was performed, the DNA was banked. So now, we wait.

The reason I decided to write this blog is because I can find no valuable information about exactly what exome sequencing actually means for families like mine. Sure, you can find information on autosomal recessive and dominant disorders, on chances based on x-linked problems - but there is nothing out there to guide me through this process of exome sequencing. At the end of the day, WHAT DOES IT ALL MEAN? There are no promises made here. Will we get the answers we so desperately want and if we get those answers, what does it mean for our future?

A few blog keeping notes before I start:

* My babies both have names and graves. I will not refer to them by name here in an effort to maintain some privacy.

* I am under the care of some brilliant genetic counselors who are as baffled by this as their peers. They have no answers for me and they talk in their own science language that leaves me Googling for days.

* I am a female of non-advanced maternal age. I have one child (healthy) from a previous relationship. Before this year, I had not experienced a loss.

* I am a science experiment in fertility. I have become pregnant within one month of trying each time I have tried to get pregnant.

* I am heartbroken. I go through this very scientific process with a lot of sadness and emotion. I know that even if the geneticists find the nasty gene that killed my babies, the knowledge won't do me much good. I sincerely hope this blog helps someone like me who wants answers where there are none in a process used so rarely it hasn't been humanized from the science of it all.