The Trouble with My Daughter’s DNA

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Miller Mobley / Redux for TIME

Both of Laurie Hunter's daughters, Amanda and Kailyn, have genetic diseases. Her 4-year-old son, Ryan, is developing normally.

By the time my first child was two months old, I knew something was wrong. Amanda, who is 14 now, has low muscle tone and didn’t walk until she was almost 2 years old. Her arms have limited ability, and she has inflammatory bowel disease. She’s been in speech and occupational therapy her whole life.

As a mother, you know that everything that happens to your child is not your fault, yet you still feel responsible. We turned to genetic testing because I wanted answers. (Read TIME’s complete series on genetic testing for children)

But I didn’t end up with any answers as to why she has these multiple disabilities. Instead it just raised more questions and added new challenges on top of the ones I’m already tackling. It went beyond Amanda. It ended up involving me and my son and my husband. And I wasn’t prepared for it.

The third in a five-part series exploring the promise and pitfalls of sequencing children’s genomes

We did the first round of genetic testing when Amanda was 4 years old. Everything came back normal. We figured she’d just be delayed. Then we started realizing there was a cognitive element, that Amanda is mildly retarded. At the Children’s Hospital of Philadelphia (CHOP), they told us that genetic testing gets better every year. So when she was 9, we did a second round of testing, and it came back normal too. My ex-husband kept saying I was looking for problems that don’t exist.

More recently, Amanda seemed to be regressing. She can’t blow her nose anymore or wipe herself effectively. It’s like her muscles are getting tighter and not moving in the way they should. In March, we did a third round of testing — this time we did a more advanced test that reads deeper into her genome. The test captures deletions and microdeletions that the previous tests might have overlooked.

(MORE: A Photo Tour of a Genetic Testing Lab)

When the results came in in late July, a genetics counselor called me to say there were deletions on Amanda’s first chromosome. I was excited at first,  sort of happy and sad at the same time, because it felt like finally I might have an answer. But then she said it was an exceptionally small deletion and that it doesn’t explain Amanda’s condition.

I was confused. I thought the counselor had made a mistake. I thought that whatever they’d find would explain Amanda’s problems. But the seven genes she is missing appear to be unrelated to her developmental or cognitive impairments. The counselor didn’t use the term “incidental finding,” but I knew that’s what it was. Incidental findings are something they find that you weren’t looking for.

Learning about the incidental finding scared me. “We would like to meet with you because one of the seven gene deletions has been linked to very rare, fast-growing tumors,” the counselor told us. She said they wanted Amanda to meet with oncologists and be followed preemptively. It was like, Oh, my God, now we are adding cancer to the mix. Never in a million years did I think this would be an issue. Soon after that, they drew blood from Amanda’s father and me to see if this was an inherited condition. Another genetic counselor called me in September to tell me about my results. She said, “I know you’re going to be upset, but we found that you have the same deletion.”

Cancer runs in my family, so at some point I had already resigned myself that I’d be faced with the potential for it. My oldest brother passed away from testicular cancer. I’d resigned myself that it was part of my reality, but I didn’t think about it being part of my kids’ reality. Not this young anyway. It’s like your worst nightmare coming true, to find out you carry something as a mother and you have passed it on to your child.

The average age of onset for these cancers is 30. I’m 42. By the time I’m 70, there is a 70% to 100% chance of developing at least one of these tumors. I’m thinking, okay, this is a real threat. So I made an appointment for blood tests and a full-body MRI to see if any tumors have indeed started growing. I have two girls, one of whom will never speak, and they need to be cared for by somebody. I worry about if something happens to me, who will take care of them.

Amanda is the oldest of my three children. When the youngest, Kailyn, was born in 2010, we learned she has a rare debilitating genetic disorder, Wolf-Hirschhorn syndrome, which is not related to Amanda’s condition. She is missing material on her fourth chromosome, a de novo deletion, meaning it was just a random deletion, not something she inherited. I had had an amnio with Kailyn, but the geneticist didn’t pick up anything. When she was born, I wasn’t expecting any problems. I had no clue anything was wrong. But Kailyn obviously had something wrong. She had widely spaced eyes and low-set ears. Babies with Wolf-Hirschhorn have small heads and high arched or cleft palates and an absent nasal bone. Her situation should have been diagnosed in utero. I was falsely reassured. At 2 1/2, Kailyn is not sitting up. She is not verbal and is more severely handicapped than Amanda.

Ryan, my son, is 4. He is the only one of my children who has developed typically. He is the only bit of normalcy I have in my world. So as soon as the counselor told me that I have the same gene deletion Amanda has, I immediately thought of my son and knew that he too is at risk. That is the part that devastated me. I know this sounds bad, but my daughters already have so many things they suffer from that going to an oncologist is just one more doctor. Now we have to send my son into the mix.

image: Laurie Hunter, a high school English teacher in N.J., learned that she had passed on a genetic mutation that heightens the risk of cancer to her daughter, Amanda.

Miller Mobley for TIME

I have shed more than a few tears since I learned about this gene deletion. I love all my children equally, but I have reconciled myself that neither daughter will ever drive, go to college, get married or live on her own. The hardest part is thinking about my son. I have this one child in whom all my hopes and dreams lie, and now he may have this deletion too.

(MORE: Faster DNA Testing Helps Diagnose Disease in NICU Babies)

He was tested the last week of September to see if he inherited it from me. I’ve felt like I was on the verge of a nervous breakdown a few times, worrying about him while waiting for the test results.

We got the results back the other day. He does not have the deletion. I feel like I can breathe again.

But I still have to worry about myself now. Because of these two kids with extraordinary medical conditions, I don’t have a life. I can’t remember the last time I had a regular physical. I could have blood pressure through the roof, and I don’t know it. On Mondays and Wednesdays, I go straight from work and pick up the girls for 2 1/2 hours of occupational, speech and physical therapy. Tuesday is horseback therapy. Thursday is my open day so if I need to take them to doctors, that’s when I do it. Friday is for my son. I signed him up for gymnastics because he’s been shuffled around to doctors and therapy for so long.

I go back and forth about whether I’m glad CHOP told me about this. On one hand, it’s one more doctor and more yearly visits and check-ups and more anxiety, but I already have anxiety. I kind of wish I didn’t know I carried the gene deletion because it made me so worried about my son. I weighed the risks of not testing him, but I thought, God forbid, what if he was one of the ones who develops tumors at 10 years old and I didn’t know. I’d be consumed with guilt.

I am not a stick-my-head-in-the-sand kind of person. If they hadn’t told me and there was something that could have been prevented, I would have been angry. Because we know about Amanda’s deletion, she is being followed. They found a spot on her neck and now we need an MRI to find out if it’s a tumor starting to grow.

Amanda’s father used to get on my case all the time because I want to know what Amanda has. We still don’t know what is causing her other health problems. I am frustrated and disappointed there is no name for what she has. I don’t have an answer and it makes me afraid. If all three of my children were healthy and had no issues, I don’t know if I’d want to know about those seven missing genes. Sometimes, what you don’t know is easier. This has added a whole new layer. I feel completely overwhelmed with information. Now it just feels like a waiting game.

—As told to Bonnie Rochman. This is the third in a five-part series exploring the promise and pitfalls of sequencing children’s genomes. Read the full series.

MORE: 23andMe Wants FDA Approval for Personal DNA Testing. What Can It Reveal?


Where is the father -- the ex-husband -- in all of this?  Is he not taking the kids to therapies, doctors, etc?


People seem so quick to judge others when they have no idea what that person is going through.  I have never had a child with a disability, let alone 2.  I do not know what it is like, therefore I have no place judging this woman for anything she has said or done.  Why don't more people turn to compassion?


Have they tested Amanda for Niemann Pick Disease?


They have shown in the genetic disease Muscular Dystrophy , a person can have the deletion required to cause MD but don't manifest the disease. They have shown oxidation is a 'trigger' which causes it to manifest. The oxidation , excess oxidation is regarded as a cofactor in the disease process. This oxidation can only be addressed by a low oxidation diet , a vegetarian diet. Meat is very high in the metal iron and iron causes oxidation / rust.

"Iron deprivation may represent the first really efficient antioxidant, preventing oxidative stress in all subcellular compartments,tissues, andorgans."


A second child with a spontanous genetic deletion?

Does this lady live on the love canal dump?

Seriously a check of her blood and body fat for toxins known to be mutagens is in order!!

Get informed on the new information on endocrine disruptors and how they can increase 'susceptibility' to mutagens.

Then go after the chemical producers.


" By the time I’m 70, there is a 70% to 100% chance of developing at least one of these tumors"

By the time you're 70? By the time you're 70, odds are yes, you will be facing a multitude of health problems, beause you'll be nearing the end of your natural life. Why are you letting you fear of dying (an inevitability) ruin your life now?


Try for family friendly info on symptoms of people with genetic issues. Also Sibnet is a great resource for brothers & sisters young & old.


Let's not judge Laurie Hunter. She is the farthest thing imaginable from self-centered. She has been dealt an extremely challenging deck of cards, and she is persevering with grace.


"Because of these two kids with extraordinary medical conditions, I don’t have a life."

If that is not the most self-centered statement I have ever heard, it comes VERY close!

You HAVE a life.  It is full of the opportunities to love, care for, and teach others who would be lost without you.

"Having a life" does not necessarily mean having the liberty to indulge your personal whims and focus on self-gratification.

"Greater love has no man than this, that a man lay down his life for his friends." - John 15:13


Gattaca, here we come! Now that we have Obamascare, where everyone must buy insurance from private companies, they will be able to collect this data in the future and "tailor" (increase your premiums) your health insurance packages accordingly. If you think auto insurance companies are a plague, wait till the healthcare clowns get their hooks into us (further).

While this story is sad, there are a lot of families that have to deal with these issues (my own included) without having to micromanage and and waste tremendous amounts of time trying to figure out "what went wrong".

Just let nature do it's thing, and learn to live with the blessings or curses you get.


A couple of months ago, I spoke to the father of a 11-year-old child whose condition still remains undiagnosed despite several tests and consultations with doctors over the course of several years. The child cannot stand up unaided, is unable to speak, and had extreme delays in reaching milestones. While his wife was insistent on knowing what exactly her daughter's condition was, the years of mental anguish began to take a toll on the father who decided enough is enough. According to him, 'Leah is Leah and that's all I need to know. It doesn't make a difference to me on what she is 'classified' as.' That, I thought, spoke volumes of the love for his daughter than anything else.


There comes a point where too much information regarding possible outcomes can do more harm than good.


This story broke my heart.  Laurie Hunter deserves a medal.

When I recall my childhood in the '70s, it seems like a magical, innocent time.  I could ride my bike all day without predators stalking me.  I could eat sugary cereal, watch cartoons, and be my weird, exuberant self without worrying that diabetes, ADD, and autism were stalking me.

I think we have to take a step back and ask ourselves where all this scientific prognostication is taking us.  Are we happier and healthier?  Do our children have a brighter future?  If the answer to these questions is no, why are we steadfastly marching down this road?

When my son was born, I stopped reading Tarot cards (yeah, yeah, I'm weird, remember?).  Bad things are going to happen to all of us at some point, and I didn't want our lives to be filled with dread.  I wanted to enjoy each day and meet each challenge as it comes rather than watch my life set out like a row of dominos waiting to be knocked over.

I don't want to know what's lurking in my or my son's genome.  Most of those latent diseases will never express themselves, and we can only die once in any case.  I'd hate it if fear robbed my son of opportunities in life.  I'd rather that science devote its considerable resources to diagnosis, not prognosis.  Wait for something to go wrong, then tell me about it while there's still time to treat it.  That's my best case scenario.

Whether we want it to or not, genome analysis is eventually going to lead to proactive selection.  Parents will terminate babies who aren't "perfect," whatever that word means to them.  People will select spouses based on their ability to create a disease-free child.  Employers and insurers will discriminate against individuals who got the short end of the DNA strand.  Worst of all, we'll become a nation of hypochondriacs who spend 30% of our GDP on unnecessary diagnostics.  Oh wait, we're already doing that.

Sometimes I think people fail to grasp the inevitable truth:  we are all going to die; it's how well we live that matters.