Someday is Today

Someday, I thought, someday someone will ask me about genetic testing and DNA banking and they won’t be talking about science. Someday when someone asks, they will know that they are asking about my sons.

Today is that day.

A letter came from PreventionGenetics asking me for my story.

“PreventionGenetics is looking for personal stories or testimonials from our clients who have recently withdrawn a DNA sample for the purpose of testing,” the letter reads. “Your feedback will help us reach people who have never heard about DNA banking.”

It seems strange to share my story for marketing purposes, but DNA banking and genetic testing defines such a huge part of who I am. My boys, my grief, my struggle, my role as a genetic cautionary tale – those things define me more so than my life roles as a writer, a mother, a wife, a daughter, a granddaughter or a friend.

DNA banking isn’t the beginning or the end of my story. It’s just a milestone, a decision that I made minutes before my surgery with John. I held my husband’s hand as the genetic counselor asked if I wanted to bank John’s DNA.

“Give him your credit card,” I told my husband. “Do it now before I go into surgery. Do it NOW.”

The GC, who had asked so sheepishly, so quietly, stared at me for a second before I snatched the pen from his hand and scribbled my signature on the form. Later I was told that most mothers in my situation – grieving a child, going into surgery, uncertain of the future – shy away from DNA banking. Maybe it’s more grief, more decisions. I know I felt anger at anything and everything medical for a while, under the veil of my grief and the rationale that nothing would bring John back to me – so what’s the point? Why eat? Why sleep? Why care? Why deal with more paperwork and more insurance representatives and doctors and nurses and needles?

The truth is, we had gone through “every” genetic test – they all came back normal. In that moment, I didn’t know about whole exome sequencing. But I knew that I wanted answers, and if answers came in 10 or 20 or 30 years, then that’s when I would get those answers.

To the wall, remember? I was going to take this to the wall for my babies. And I did. And it started with my signature and my husband’s MasterCard. It started the moment I decided to bank John’s DNA.

It was Drew’s exome that gave us the big answer of Congenital Disorder of Glycosylation 1G, but having John’s DNA meant that the scientists at Baylor could confirm John’s genetic disorder, too. Knowing the answer for both of my boys has brought me more peace that I can adequately express on any blog or to any counselor or doctor.

Knowing the killer genes was important to me, and that was my focus in the four months it took for the exome results. Being able to say “Congenital Disorder of Glycosylation 1G” is a gift. But the true value of the answer came awhile after April 11, 2013 (Exome Day). I know so much about my boys – the boys I will never truly know – because of that diagnosis. I know they were blind and deaf. I have a description of their faces instead of just fuzzy ultrasound photos. I know that they weren’t in pain, but that they would have been born to pain. My choices for them are validated in my heart. I carry the emotional pain of my decisions with me so they would never have to feel even a second of physical pain. Their memories are of the feel of my body and the vibration of my voice.

My quest for answers somehow brought me all the peace anyone could get out of my tragedies. Looking back, the moment I signed the DNA banking form was pivotal in the diagnosis, sure, but it was also a milestone in my grief journey – a journey I will take my entire life.

So yes, PreventionGenetics, use my story. I know that I am the beneficiary of brilliant genetic research done by compassionate people at both Baylor College of Medicine and The Cleveland Clinic. I know that there are mothers who don’t have the very human benefit of those brilliant people, for everything from expert genetic counseling to holding their hands during invasive testing, always having a tissue for their tears, and to share their “to the wall” commitment to answers. They may not have a genetic counselor with a form and a pen to help make answers possible.

Use my story, PreventionGenetics, and help those women take it to the wall for their answers. They won’t regret it.

Paying it (genetically) forward on the 365

Yesterday was the one year anniversary of our big exome results reveal. Today is would have been my son Drew’s first birthday. Both are hard to reconcile in my heart because I desperately want to make sense of it all.

But I know there is no sense in any of this. There are no reasons and there is no closure. I miss my boys and genetics is the cause but not the reason.

I suppose my gravity in all this is my son, Clark, who reminds me to keep breathing. Every day is another “one day at a time” for me. It always will be.

It was a sobering realization for me that I am not the worst off in genetic roulette. At the end of the day, I’m the least of the “unlucky ones.” My 25 percent chance of recurrence is the home run of statistics in this game where no one wins. My heart breaks as I read about translocations and dominant disorders and especially the mothers who don’t have a black and white answer like I have.

My heart hurts for their hearts. And while genetics killed the best of me, I also know that genetic since saved the rest of me. I am lucky in the scientists and doctors and genetic counselors who saw me through this. Not everyone has such support.

So I made a decision. My eggs are one half of a huge problem for myself and my husband, but they are just eggs to anyone else. Perfectly fine, perfectly usable, perfectly healthy reproductive eggs.

I decided to donate them. Who wouldn’t want the best of my genes without the worry of the worst of them? If you’re down with red hair and you don’t mind skinny kids, I’ve got your eggs!

The idea was to find a mother who needs donor eggs and can't afford them and simply give her mine - be a "known" yet "unknown" donor.

Alas, my eggs have expired. It’s true. To make IVF worth it, couples want 25 year old eggs, not 35 year old eggs. My eggs are not 25 years old.

Then I heard about a woman who has leukemia caused by the trigger of a genetic mutation. She needs a bone marrow donor and she hosted an event through The National Marrow Donor Program. I attended this event by BeTheMatch.org and submitted samples of my DNA for screening, inputting and, hopefully, matching me to someone who can use my bone marrow.

To participate you have to be willing to give several cheek swabs of DNA, continually update your contact information, and donate marrow or blood if you are someone’s match.

My sample is in processing, which takes about two months. Some people get a match call right away, others are years on the waiting list, and others never get the call at all.

I hope every day that I am someone’s match. I know there is nothing anyone could have done to save my sons, but if there WAS someone out there who had the ability to change their fate, I would hope they would be willing to save them.

I would give every single part of myself to save someone from their loss at genetic roulette.

I sincerely hope I can #bethematch

Just shy of a year

It is just shy of a year since I learned the results of our son's exome.

I look back now as though it has been a decade of history instead of just 357 days.

I hope that knowledge was power for me, because instead of being torn down by my unchangeable DNA, I was empowered. My life today is completely unrecognizable from my reality a year ago. I am a different person - a new person, really. Do I like this new woman, who seems to have a stronger spine and a harder edge but a softer, more empathetic heart?

I guess that isn't for me to say.

I am happy for the women who have come up behind me for exomes - it seems that more families are seeing the benefit of this technology. It is providing answers where there wasn't any before, and that's powerful. I also see that insurance companies are much, much faster to deny the tests, but that research groups and even the labs themselves are picking up the insurance slack for the greater good.

I do still firmly believe that every single tested exome brings us closer to both overall and specific understanding of genetic disease. Every single person is a link in this long, long chain of knowledge. I believe that so much of what we think we know about genetics and genetic disease are guesses and theories and that a lot of those theories are wrong. I believe that those links of knowledge will shine brighter lights on the connections between things as common as Trisomy 21 and as rare as Congenital Disorder of Glycosylation 1g.

I leave this post with a bit of happiness - a glimmer of hope where I had none before. I introduce Clark to the blogosphere. He is three months of soul-saving love. He is smiles and cries and he holds my heart with the eyes I dreamed for his brother John and the smile I dreamed for his brother Drew. He is, by scientific definition, even more rare than his brothers. Clark is only the second known person to carry his particular microdeletion on Chromosome 22, gene ALG12. His father is the first one.

How about that for the most scientific paternity test in history?

Meet my son:

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.