When Ethan passed, I sent a lock of my braided hair with him. I couldn’t stand the thought of him being alone even for a moment, so I sent a piece of myself with him to heaven. I wished so desperately that I could take his place, and let him live, but no amount of begging or bargaining could change our fates. The missing hair began to serve as a reminder of how recent Ethan’s passing was, reminding me to go easy on myself when I wondered, “why am I struggling?” Measuring emotional recovery is such a tricky thing, even for the person experiencing it. It can’t be seen or touched, x-rayed or scanned. It can only be felt, but it’s a slippery fish. One day, you feel like you have a handle on it and the next it’s wriggled out of your hands. As that lock of hair grows in, it’s a tangible reminder of how slowly our physical body takes to heal and recover and so too our emotional body. At two years, that lock is just past my shoulder and I’m not sure I ever want it to catch up with the rest of my hair.
It’s not just important to me to get my whole genome sequenced; it’s really, really important. In fact—and I don’t say this lightly—I’m on a quest.
Getting my whole genome sequenced is my way of making the world a better place today than when Ethan was born. By learning about and changing my own view of genetic sequencing, I can make an impact on the way our culture thinks about and uses the secrets of our biology to fight diseases and prevent unimaginable tragedies.
My journey started years ago with a question: “Are you Ashkenazi Jew, French Canadian, or Creole?”
This simple list plunged me into the dilapidated state of medicine in 2003. I said no and thought to myself that would know if I were—I mean, wouldn’t I? My OBGYN replied quietly, “Okay, I would have tested you for Tay-Sachs, but since you’re not in a high-risk group, I’ll just test you for Cystic Fibrosis.” The entirety of this conversation happened in the blink of an eye and remains etched in my memory.
The fact of the matter is that I wouldn’t necessarily have known whether I was in a high-risk group or not. Indeed, it did not even matter: I still had a 1-in-250 chance of being a Tay-Sachs carrier, but nobody told me about that. The omission left me completely unaware, just like more than a million other Americans whose doctors neglect to tell them this important, sometimes crucial, fact.
In the years since then, I have wondered what else my genome could tell me. This question most recently sent me to Dallas, Texas for the Understand Your Genome conference held by a company called Illumina. Illumina has long been on the forefront of whole genome sequencing (WGS). A few years ago Illumina began offering WGS to the general population, accompanied by a detailed conference regarding the process and results. The only thing you needed was a doctor’s order for the testing.
I heard about Illumina in 2013, soon after Ethan was diagnosed with Tay-Sachs. I signed up for the sequencing and conference right away. At a cost of $5,000, I was determined to learn the secrets of my genome. It should have been a snap to get a doctor to sign my order. After all, we’d already identified our Tay-Sachs mutations when Ethan was diagnosed. Lysolab tested Ethan’s HexA levels to confirm that he had Tay-Sachs. GeneDx sequenced his HexA gene to identify his two mutations, then tested us to see which mutations we carried.
I talked to Ethan’s doctors about getting my whole genome sequenced. I was baffled when each gave me the same littany of responses. You have no reason to get sequenced because you are asymptomatic. The technology is too new to be reliable. You’ll suffer genetic discrimination. The number of incurable diseases that you could have is too many to count.
Still—hadn’t I already received what could arguably be the worst news of my life? News that undoubtedly could have been entirely prevented had I been whole genome sequenced in the first place!
It was about that time that Ethan became very ill. I reluctantly withdrew my registration for WGS. Then I just sat and watched for weeks as my son passed away before my eyes.
This summer, I decided to start again. I was determined to sign up for any genetic testing that I could get access to. I started with ancestry.com, which turned out to be very interesting from a genealogical perspective, but not so illuminating from a medical perspective. Then, I signed up for JScreen, which has some of the most comprehensive panels available upon request, but again only with a doctor’s order. I convinced my OBGYN to sign the order and JScreen sequenced several genes to test me for over 100 conditions. They all came back negative except for Tay-Sachs. And JScreen provided video genetic counseling to explain all of my results. My experience with JScreen is discussed here: http://jscreen.org/blog/michelles-story/.
This fall, Illumina added a Watch and Learn program to its conference, in conjunction with Genome magazine, and that’s how I landed in Dallas on a chilly day in November. Many of today’s genetics leaders were at the conference—luminaries expounding on topics ranging from basic genetics to medical ethics to the evolving genetics of cancer.
But I didn’t get my genome sequenced in Dallas.
I’ve offered the opportunity to see WGS in action to every doctor I know, but it’s still too new. I did muster up the courage to ask conference attendees why it’s so difficult to access our genomes, though, and why doctors stand in our way. Several people shook their heads and admitted it was a problem.
The irony is, of course, that it’s MY genome. Not letting me learn about it is like refusing to tell a blind man what color shirt he’s wearing—it’s just that genomes are significantly more important.
We’ve got a lot to learn still, about what genomes can do for us, why access to them is a good thing--and what in the world is in mine!
And so, just as new year is about to begin, my quest continues. Perhaps in 2016 I will finally be able to unlock the secrets inside me, inside my whole genome sequence.
1. Your child is the same kid today that he or she was yesterday. Tay-Sachs does not define him or her.
2. Celebrate your child for who they are, a child that is living.
3. Your love for your child and his or her love for you is a life well lived.
4. You don’t have to be strong enough for the next three years, you just have to be strong enough for today.
5. You’re not performing for anyone else – feel happy when you’re happy – feel sad when you’re sad.
6. Promise yourself to live long enough to see a time when you can truly experience joy.
7. You’re not neglecting your family by going to work and focusing on work rather than your pain.
8. We’re more than just our bodies. This little spirit is visiting for a while and we’ll see him again.
9. Every time I began to descend into the rabbit hole of what-ifs, I reminded myself of a story a very supportive mother of a child with Tay-Sachs told me. When she told her healthy son that his sister had Tay-Sachs and would pass away, he turned to her and said “but not today, right?” So I chased those rabbits away with the mantra “not today.”
10. The priest who baptized Ethan contracted meningitis and encephalitis in South America, which has a 90% mortality rate. He was in a coma for a week and went on to have seizures. He told us that he was never in any pain or even aware of the seizures or coma and that it was much harder on his wife who watched them.
11. Give yourself permission to say, “it’s emotionally complicated.”
1. We think of you all the time!
2. I wish I could take all the pain away.
3. Every child, every life, no matter how short is loved and cherished.
4. Our hearts break with yours.
5. Why do bad things happen to good people?
6. This is so unfair.
7. It is unfathomable that these diseases even exist.
8. Tell me more about your child’s condition.
9. How can I help?
10. We love you!
Add your own “bests” in our comments below.
And yes, people have actually said these things to us.
1. “That’s okay, you can have another child,” followed closely by “that’s okay, at least you have other children.” These are two of the hardest things to hear. Even families that go on to have another child or who have three other children already will tell you that it in no way diminishes the pain they experience watching their child decline and die. And no one can ever replace their lost child.
2. “So sorry to hear that your child is dying. Oh well, have fun.” Yes, someone actually said this to me.
3. “I’m so glad I’m moving, so I won’t have to watch your child die.”
4. “I can’t imagine what you’re going through.” This statement really says, “I don’t even want to think about it.”
5. Pour In, Dump Out – Don’t complain to the grieving family how hard it is for you to handle what is happening to them. Complain to a friend, to a neighbor, to the mailman, but not to the grieving family. Pour in support to the family.
6. “God only gives us what we can handle.” Why would anyone think a parent should be able to handle watching their own child die?
7. “We haven’t said anything to you because we didn’t know what to say.” See our Top 10 Things You Can Say.
8. The names “angel” and “star” have such a special meanings to parents who have lost a child, so please don’t use them for your healthy children. And please don’t apologize because your healthy child is slow to walk or talk or do any of the things our children will never do.
9. “Doctors don't know a damn thing." Get a second opinion or “listen to the local religious radio station for 30 days and you’ll feel better.”
10. “You’re so strong.” – I hesitate to put this on the list because I loved hearing that I was strong – if you said it enough times maybe I would believe it – but I was no stronger than anyone else, the situation made us dig deep just to survive day-to-day. Try “I know how much strength it takes to just show up every day and you’re doing an incredible job.”
Add your own “worsts” in our comments below.
“But he looks so normal." If I heard it once, I heard it a million times. Every time someone said it, I thought, “you're right, there can't possibly be anything wrong with him.” In those moments, I often let myself drift into the make-believe world where he was normal, beautifully normal. In my dreams, he walked, he ran, and he laughed without end. But when I awoke to what had become my new reality, I knew he would slip from our fingers. No number of complete strangers telling me what a cute boy he was or exclaiming "what a perfect family" would keep him with us.
Ethan was beautiful and he did seem perfect. Before his diagnosis, I agreed how perfectly lucky we were. In the rare instance when I felt overwhelmed with the hectic nature of caring for three young children, I thought, "better hands full than heart empty."
But after diagnosis, I struggled. I caught myself asking “why is this so hard? Why am I having such a rough time?” Nothing had changed from the day before: Ethan was still just a baby and, as a baby, he would have been dependent on me even under the best of circumstances.
When I saw him lying next to a healthy one-year-old, though, his condition became immediately apparent. A healthy-one-year-old could sit up, crawl, stand, and maybe even walk. He could hold a toy and play with it. He could gesture and say a few words. Most one year olds can explore their surroundings, feed themselves finger foods, hold a sippy cup, and sleep through the night. They would be on the path to gaining independence in every aspect of their lives.
At age one, though, Ethan couldn’t do any of these things. He lay steadfastly on his back, neither rolling over nor crawling. He needed to be held lest he lie on the floor all day. He couldn't sit up to relieve a burp or change positions at night when he was uncomfortable. He slept in four- to five-hour increments and was often up for two hours at a time at night.
Ethan had a severe startle reflex and jumped at the littlest of sounds—like a fork being placed on the counter top or his own tongue making a clicking sound. He could hold a toy but not for long. He could barely manage to bring a sippy cup to his lips. Solid foods were out of the question because he choked on anything thicker than a puree. He also got sick very easily and had trouble recovering, which was particularly troublesome with two active, germy four-year-olds in the house.
There was still life to him, though. Ethan could move his arms and legs and sit up for short periods if he was held. He could still smile, see, cough, and swallow, though that was fleeting. Our doctors told us to expect big changes in his next six months. I wasn’t ready for that. I loved seeing him laugh and smile and I didn't want that to go away.
My only comfort came from knowing that even though Ethan was not healthy and this awful disease would take many things from us, it could not take away our love for him and his love for us.
Last summer, we celebrated Ethan’s first birthday, in spite of the sorrow. We only had his grandmothers and aunt over for it, instead of the large barbecue with all our friends that we had already started planning for him. His first birthday seemed more like a countdown than a celebration. As it turns out, it was the only birthday we got to share with him.
This June 12th would have been his second birthday. And despite our great sadness and the weight of his unendurable absence, we have to celebrate his birth. We are compelled to celebrate his life. And so it will stay, every twelfth of June, and every other day of the years that we draw breath.
We miss Ethan desperately and we love him endlessly.
April 26th is the one-year anniversary of Ethan’s diagnosis. Just one year ago on this very day, we squeezed Ethan’s chubby hands as the doctors told us he had a fatal disease, one that would slowly rob us of our precious son. “There is no treatment and no cure,” they told us. Enormous tears fell down our cheeks as we succumbed to the numbness that followed, knowing that disbelief was futile and no protest no matter how ferocious would change his fate.
Diagnosis day was hands-down the single worst day of our lives. The shock, the pain, and the grief we experienced that day was all consuming. And those feelings were even more acute because it was our child, the one we created, nourished, and bore. The one we cared for from the day he was born, stayed up with at night, cried with, and smiled with.
In an instant, our life stopped, all of our plans got put on hold, all the things we thought were important suddenly weren’t. We’d imagined our life with a healthy toddler, one who could sit up, eat by himself, and sleep through the night. Taking care of a child who couldn’t do any of these things and eventually wouldn’t be able to move, swallow, or breathe became a crushing reality and incredible responsibility. Every cry became a concern, every cough a sign of pneumonia, and every twitch a sign of seizures. Meanwhile, every stranger walking down our street carelessly held a healthy baby.
You might think our first reaction would have been one of disbelief, but we knew Ethan wasn't thriving like the girls did at his age. Instead, my first thought was how would I be able to mother a dying child? For days, I could barely hold him, not wanting to associate the overwhelming feelings I had with this tiny baby, his soft cheeks, his blue eyes.
As time wore on and the shock wore off, I began to see what actually was – I was mothering a living child, one whose life might be short but who was just as deserving of love and compassion as anyone. I knew I would have to endure his decline and death, but not on that day. In fact, I realized that upon diagnosis, Ethan hadn’t changed one bit. Only my perception of him, my understanding of his condition, his future, changed. So I changed my expectations - my hope for him was no longer to grow up big and strong like our other children but to stay comfortable and have safe passage when the time came. And in the end my sole remaining hope is that our love for him made his a good life!
His love for us certainly made our lives more enduring and meaningful! I miss him dearly, every day, every second.
Katherine was Dorothy’s little sister. She was born in 1929, a bright spot in what was for many people a terrible year. A beautiful baby, Katherine was a living breathing little doll for her 15-year-old sister to love. She smiled and cooed. She squeezed Dorothy’s finger. And when it came time for her to crawl, to walk, to talk, she didn’t. Doctors diagnosed her with pernicious anemia and she started to fade. She was gone by 1932 at the tender age of three.
Dorothy never forgot her baby sister. Even up into her 90s, she spoke wistfully of Baby Katherine, the little girl taken from her family so young. Dorothy was Gordon’s grandmother, and Baby Katherine would have been his great aunt. It was a sad story, but stories of children dying young a hundred years ago were not as unusual. They could—and did—die for many reasons. Dorothy told me the story years ago and I filed it away. Then, shortly after Ethan’s diagnosis, it hit me. Had Baby Katherine had Tay-Sachs?
We asked Gordon’s aunts and uncles for more information but they didn’t know a lot. One aunt bravely asked Dorothy what else she remembered about Katherine, but the best clue Dorothy could give us was in her genes. She was tested for Tay-Sachs using the “spit test” from a controversial company, 23andme.com, which has since been shut down by the FDA. The test could only detect six of the over one hundred mutations that cause Tay-Sachs, but in this case it hit the jackpot. Tests on three generations of Gordon’s family revealed that Dorothy was indeed a carrier. She had passed her mutation unwittingly to her son, then to his son, and then to our son, Ethan.
The test told us that Baby Katherine likely had at least one mutation, like her sister. But for her to have gotten Tay-Sachs, both of her parents would have had to be carriers. Whereas Ethan’s chances of having been born with Tay-Sachs were 1 in 620,000, Katherine’s chances would have been 1 in 250. We wondered how we could know for sure. We could not test Katherine’s parents because they died long ago. If any of their other children were alive—or if they had had children—we could test them for a second mutation. But we were out of luck on all three fronts. Dorothy was the only one of her five brothers and sisters to have children. Our only option was to test the descendants of Dorothy and Katherine’s aunts and uncles, whoever they were and wherever they might be.
The good news was that we had genealogists in the family. They could help us find Katherine’s distant family members and determine whether they carried a second mutation. If they did, we would know with nearly 100% certainty that Baby Katherine had Tay-Sachs. And so we began our search, and so it continues. Better than merely knowing ourselves, our search would lead us to people we could warn about Tay-Sachs. Being related to us, their risk of being a carrier is as high as 1 in 16. It’s something they would want to know about up front.
And then it occurred to us, if we can do this for our own family, we could do it for other families too. Distant relatives who don’t fall within the normal definition of “high risk”—and who consequently don’t get tested—should not have to find out the hard way, the way we did, by losing our child. And so TSAPO was formed. We facilitate the process of finding distant relatives who are at high risk by virtue of their relationship to a known carrier. If we can help even one family avoid the heartbreak of having a child diagnosed with a terminal illness, then our nonprofit, our mission, will be a success!
This spring Dorothy passed away at the age of 99, but not before she took the test that unlocked such a crucial clue. We hope that her last gift to us and to her great-grandson Ethan will make a big difference in many lives. And so we thank her, and Baby Katherine, and Baby Ethan, for helping us learn how to help others and maybe someday defeat Tay-Sachs once and for all.
And so, our story of Ethan's life continues...
Life is a journey, and so is Tay-Sachs. Our first steps on this tortured path came when Ethan was six months old. Our only sign that something was troubling him was that he wasn't sitting up. It worried us, but we remembered that our twins were wobbly at six months too. We figured he would sit up any day. We tried to help him out: every day we put him on his belly for tummy time and we sat him between our legs so he could practice. And yet at seven and eight months, he still wasn’t getting there. We feared what we thought was the worst. He might have developmental delays. But we told ourselves that babies are just different. We had seen infants who didn’t crawl until they were 12 months and toddlers that didn’t walk until they were two. Eventually, they all got there. We were worried, but deep down we thought our sweet Ethan would too.
But he just wasn’t progressing. At his nine-month check up, I raised our concerns with his pediatrician, who referred us to the Early Intervention program. They agreed that Ethan had low muscle tone and there was something unusual with his eyes. Yes, his eyes! We already knew that he might have bad eyesight. We had noticed that when people held Ethan, he leaned his head way back to look at the person and would then break into laughter. Was that unusual? We thought it was cute! But it wasn’t just the eyes. There were the startles too. He would jump and cry at really loud noises, but don’t all children do that? They referred us to a pediatric ophthalmologist.
When we took Ethan to his eye exam, we thought they would say he needed glasses. At worst he might need surgery to correct a lazy eye that runs in the family. But the doctor said he had cherry red spots on his retinas. I thought “that doesn’t sound too bad,” but she didn’t say what it meant. When she referred us to a neurologist, I knew it was serious.
The neurologist tested Ethan for a number of unimaginable genetic conditions. The wait was excruciating, far worse than any wait I’d ever experienced before. We were assured that our doctors would find an answer, that if these tests came back negative there were four more rounds of tests we could do. No stone would be left unturned. But we didn’t want an answer—whatever it was, the answer wasn’t going to be okay.
After two very long weeks of hand wringing and long silences, we learned that Ethan has Tay-Sachs. Tay-Sachs is a degenerative genetic condition. It is a fatal condition. A baby with Tay-Sachs has an average life expectancy of two to four years. There is no treatment. There is no cure.
My husband and I were shocked. Neither one of us is from a high-risk group. We're not Jewish or French Canadian or Creole. We had no reason to think that either of us, much less both of us, carried the genetic mutation that causes Tay-Sachs. But that is what doctors have lead us all to believe: if you’re not in a high risk group, don’t worry about it. But 1 in every 250 to 300 people in the general population is a carrier for Tay-Sachs, so 1 in every 90,000 couples could have a Tay-Sachs baby and 1 in every 360,000 babies has Tay-Sachs. That means there are over 1 million carriers of Tay-Sachs in the United States alone and that ten babies are diagnosed every year. That is ten babies too many. Our odds were even lower because I was tested for Tay-Sachs and found to be negative. That made our odds of having a Tay-Sachs baby 1 in 620,000.
Despite those odds, it happened. Our sweet Ethan was born to us, exactly where he was meant to be, and he had Tay-Sachs. We love him dearly and endeavored to make every day as comfortable and loving for him as we possibly could. We knew all song the way, however, that it was only a matter of time before he was ripped away.
Life is a journey, and so is Tay-Sachs. But unlike life, Tay-Sachs only goes in one direction. And took all of us with it.
Who could have known that such a little boy, with such short life, would have such an enormous impact? He certainly did on me.
After the girls were born, I doubted myself, with two at the same time, I was overwhelmed. By the time Ethan was born I was a more seasoned mother, and as his condition worsened, I was able to be patient with him and take good care of him. But when a child has special needs, the parents have special responsibilities, and we faced many really tough decisions about his care and so still I found myself doubting. How would WE know which choices would be best, when there weren’t any good options? And when nothing we did made him better, how would HE know that our decisions were made with love?
And so early on I began to kiss Ethan every time he laughed, in hopes that when he could no longer laugh, he would remember that feeling of love. In the weeks leading up to his death, I began a ritual of kissing him in the same way every night. I kissed one cheek then the other. I kissed his nose and his chin. And I placed three soft kisses — one, two, three — across his forehead, not wanting any one kiss to be the last. I hoped he could feel them and that he would remember that feeling.
And when Ethan passed, my love for him — my caring for him — was still there, but the places where I looked for him, the places he had spent so much time — on the ottoman, in his bed, were empty. I might never know if he remembered.
Two days later, I had a late night. The girls had a hard time falling asleep and when I finally got a break it was late. As I settled into bed and began to drift off, I felt something on my forehead.
One, two, three.
Ethan gave me three kisses across my forehead. It was unmistakable, the same three kisses I’d given him for so many nights, but this time I felt them, truly felt them. They were kisses from Ethan. And I know he was telling me, now that he was free of his body, now that he could speak, “I love you. I know you did your very best for me.”
One, two, three.
Those three beautiful kisses told me that I’m a good mom and that he knows we did our best for him. I am and will forever be thankful for that love and comfort, and for him, our beloved son. I love you Ethan!
That is where my eulogy ended. Indeed, I knew right away it was Ethan kissing me and it seemed like the most natural thing. It was only later that the impossibility of it all occurred to me. But there was a little bit more to the story that I didn't share at the time. The very next morning after the kisses, I sensed Ethan sitting on the windowsill, a little boy made of light, pulling his knees tight into his chin, just watching over us as we walked down the stairs. He was checking in on us one last time, before he went off to run, play, fly, and do all the things little boys should do. And he wasn't alone, another light shone too, and although I couldn't quite make out who it was, I can only imagine it was his cousin, Allison, who passed away when she was three of a brain tumor. But the truly incredible thing to me was that with the kisses, Ethan did things he’d never done before, and by sitting on the windowsill, he showed up in places he’d never been. I wasn’t simply remembering him. He was there. I'm comforted knowing that he is safe, he is with people who love him, and he is an angel flying high. Till we meet again, Ethan!
Ethan’s Wish is a place to share the wishes that our children inspire in us. If Ethan could talk, he would say that his sole wish is for no child ever to suffer from Tay-Sachs again. As his family, it is our wish that no other family should suffer the heartbreak we have endured, knowing that his condition is preventable. Add your comments below or share your story of how your affected children inspire you here.
I'm Ethan's mom and founder of TSAPO.
Michelle's dear friend, Kay, edits Ethan's Wish with kindness, compassion, and beautiful writing.