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“PreventionGenetics is looking for personal stories or testimonials from our clients who have recently withdrawn a DNA sample for the purpose of testing,” the letter reads.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.