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?

42 comments
nikavt
nikavt

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

MollyFields
MollyFields

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?

jflinton
jflinton

Have they tested Amanda for Niemann Pick Disease?

TomHennessy
TomHennessy

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."

WandaFry
WandaFry

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.

eldenzin
eldenzin

" 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?

NosePicked0811
NosePicked0811

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

bonnie.rochman
bonnie.rochman

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.

tadchem
tadchem

"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

TomJones
TomJones

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.

swarsang
swarsang

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.

ChristieLey
ChristieLey

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

Talendria
Talendria

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.

LouMelograna
LouMelograna

@nikavt her father is taking care of her 5-7 days a week!! Although this article is a bit skewed and makes Laurie sounds a bit selfish, you have yet to walk in her shoes. I am her ex-husband and good friends with Laurie and her family and help her and her family whenever possible.  I take Amanda to doctor's and therapies as her mother does. Every 8 weeks I drive an hour and a half each way to get her infusions she needs and take a day off of work to do so.  She also spends the weekends with me and my step-son in challenger league sports, Girl Scouts, and tons of other activities. Laurie's son Ryan even accompanies us from time to time. Laurie is my ex-wife and she will rave about my qualities as a father.  Unfortunately (no offense to her or the author) the article left out myself and her husband's roles in all of this and makes me look like a bit of a worthless wretch.  However, Laurie also is remarried and her husband would take care of Kaylie and Ryan while Amanda would still be with me.  So again, in the spotlight it's easy to be a little self-pitying, but if you went through what my ex-wife has gone through for a week you would see why she said what she said.  How many of you have driven to the hospital an hour and a half away for repeatedly because your baby daughter was nearly on her deathbed? I have a feeling very few of you have and consider yourself lucky to not have to do it! 

LouMelograna
LouMelograna

@MollyFields Because Molly people are NOT typically compassionate for the most part. if they were there would be less bashing and war in the world.  Instead we blame/fault and slam others to make our miserable lives seem more justified and make ourselves feel better that we can judge someone else and feel empowered for a bit.

nikavt
nikavt

@TomHennessy I think you should check some physiological biochem texts before you post as some of what you are saying is incorrect.  

LouMelograna
LouMelograna

@WandaFry Do you really think that you can pinpoint it with tests every time? Seriously you would have to be insane. They can't even cure the common cold!  God gave us these children because we have the strength to handle them!! For those of you who can't I feel bad for you and happy for you all at the same time.

LouMelograna
LouMelograna

@eldenzin Agreed! I have spoken to Laurie about this over and over! Life is what you make it and if you view it as sad, then you will grow depressed.  You must find the good in all of this!!! It's too easy to be negative!

nikavt
nikavt

@eldenzin 70 isn't "near[] the end of your natural life" for most Caucasian women in the U.S.  

LouMelograna
LouMelograna

@bonnie.rochman Bonnie well-said. next time maybe you should let the fathers have a little voice! Just kidding. Thank you for taking the time to put this out there.  Amanda went to school with her copy of the article and told everyone "I'm famous!"

LouMelograna
LouMelograna

@tadchem hey you're right in that she DOES have a life, but do not judge her...especially if you are going to quote the Bible!  That's just pretentious. 

nikavt
nikavt

@tadchem Where's the father?  Why don't you ask why he isn't he "lay[ing] down his life" for his kids?  

MollyFields
MollyFields

@tadchem If a parent does not take care of themselves, then that affects how they take care of their kids.  Having time to herself does not make a mother self-centered.  It makes her a better person and a better mother.  

 You should read some of the research on parents like this one who are not able to take care of themselves.  It's frightening the effect it has not only on them but on the type of parent they are able to be.

Hadrewsky
Hadrewsky

@tadchem 

Luke. 6.3738, 41421 Judge not, that ye be not judged.2 For with what judgment ye judge, ye shall be judged: and with what measure ye mete, it shall be measured to you again. Mk. 4.24

For a person of faith you demonstrate the inner tar-pit which you exemplify in life

Hadrewsky
Hadrewsky

@tadchem Shame on you for being a presumptive prick.

A mother doesnt need to devote 100% of her life to her progeny. She deserves to have 10-20-40% of her time to devote to herself and her interests alone.

You dont know what horrors she is going through and you dont have the right to presume she is a monster for want of a minute to relax. A monster wouldnt devote so much time, money, and effort towards understanding the afflictions of her family as best she can.

A monster is something you face in the mirror every morning you pretentious lizard in the guise of a human being. Shame on you and hurrah for whomever runs you down with a truck... what is left behind on the road for the crows to pick at is likely a better service to the world than your intact and un-squished body,

LouMelograna
LouMelograna

@LesMoore oh that's clever. You're a real winner.  How's that job at the Gas and Sip going?  Did you get your GED yet?  ignorant moron!

nikavt
nikavt

@TomJones What a remarkably unenlightened point of view!  Trying to figure out "what went wrong" isn't a waste of time.  If we "just let nature do it's (sic) thing," these kids would be dead.  Do you think that would be best?  If you do, that's certainly your right to hold that view, but then you wouldn't be "deal[ing] with these issues," would you?  You'd just like your affected family members die.  

Hadrewsky
Hadrewsky

@TomJones  Your concept of Nature is a fiction of your own making.

Assuming you believe in a God that suspends the laws of the universe to give people miracles if they pray hard enough forces a fictional reality upon your world.

Nature has no pity has no cares and spares nobody misery and suffering regardless of evil or holiness... Nature provides you nothing more than what you can take from it.

Man has kindled technology from the fruits it was able to steal from pitiless nature... Technology is what allows people with disability to survive, the sick to heal, and the ability to predict a predilection for genetic disease. How mankind uses this technology is yet to be certain and your BS about Obamacare which in reality does a decent (not perfect) job of preventing you from being uninsured because of a pre-existing condition. FURTHERMORE their are ALREADY LAWS PREVENTING GENETIC DATA FROM BEING USED AGAINST YOU BY INSURANCE COMPANIES.... Im sorry to use all caps but the far right is too thick headed to understand reality as it stands.

Treatment with herbal crap is fine for minor problems but the drugs derived from natural or man made sources are much more potent for combating disease... a man-made molecule of morphine derived from coal tar is exactly the same (EXACTLY) as one from a poppy plant. Natural remedy nuts are simply screwing themselves for want of chemistry knowledge.

ToeHead
ToeHead

@TomJones I think it has more to do with if you have a diagnosis, you might have a better, more concentrated treatment approach.  Nothing is guaranteed if you get an official diagnosis but I don't see the harm in trying to isolate issues and then pursue possible treatment options. Plus, you make having health insurance this terrible injustice. I for one am grateful to have a decent job that offers medical benefits just as I'm sure most, if not all, people would be.

mtngoatjoe
mtngoatjoe

@TomJones No, I think I'll try to do something when people I love are suffering. You may be content to let your loved ones suffer, but I am not. Using your philosophy, smallpox would still be a problem.

LouMelograna
LouMelograna

@swarsang And that's what Laurie should have said in the article. That is the EXACT statement I told her when she was trying to dig up the cause.  Fine to look, but geezus let's move forward to get her the care she needs and give her a loving home. How many doctors need to stab her with a needle before we are satisfied? I couldn't bear it any more.  It broke my heart to hear her cry 'Daddy i don't want them to poke me with a needle anymore!"

MollyFields
MollyFields

@swarsang Knowing can make it easier to get therapy paid for by insurance.  I have worked with many children with disabilities, and the ones who did not have a diagnosis, and therefore a standard treatment plan, had more trouble getting their treatments covered by insurance.  The parents also had a harder time finding support groups, since so many are specific to a diagnosis.  I can understand why a parent would want to know what is hurting their child.

Talendria
Talendria

@swarsang I agree with the dad, but I understand why the mom needed to know.  I think mothers are more likely to feel responsible and therefore want to keep pushing for definitive answers.  It makes me sad when people divorce over that.

LaurieLynn
LaurieLynn

@ChristieLey That might be true in some instances; I have pondered that myself. However, thanks to this incidental finding that my child inherited from me, they were able to do some tests on me and they did, indeed, find a lesion "above my diaphragm, next to my aorta." I go now for a biopsy to check to see if it a paraganglioma (cancerous) tumor; if it is, I will need surgery to remove it and additional treatment. Had I not tested my daughter and had they not found this deletion, I would never have known about this potential danger until quite possibly, it was too late. As it is, I pray that my biopsy comes back negative.

Gum
Gum

@Talendria I agree with your post as it relates to typical and otherwise healthy people. For sick children an answer could be life saving, and that is the most important thing of all. Like Laurie, I have 2 special needs children and one typical child. We have done a number of tests and ended up with mixed results. I will not stop testing until I have know what is wrong with my kids. The answer might hold the cure, or provide insight on what to expect which influences treatments, and lastly my healthy son will need to know if he carries this mutation and if it might impact his future children.

ToeHead
ToeHead

@Talendria I agree with you to a point but I do see a distinct difference between screening for these things when there is something already very wrong and just screening every single person.  If all is well with your child then you tend to not think about these things as much, however if there are major problems as this woman experienced with little explanation, I see no harm in trying to dig deeper. Getting to the very core of various disorders is how we help cure or treat them.  We don't need to create a super human race but no one wants to see their child suffer immensely and then just sit by.  Genetic tests could very well reveal solutions and even if it's not now, we may have the ability in the future. I wouldn't shame a parent who has a child with such severe disabilities that admits to not being equipped to care for them for the next 40 years.  People can be hypochondriacs and ultimately that does harm in the big picture but the exact same can be said when things aren't diagnosed until it's too late. I'm not arguing genetic tests are always the answer but it's just as deadly to leave things unchecked. I had a friend in high school from a family with a high incidence of cancer. She developed a tumor in her knee that grew for about 2 years but her doctor wouldn't order an MRI. Finally, they left that doctor, got the MRI and discovered in days she had cancer. She almost lost her battle and her leg because not enough diagnosis was done early on.

LaurieLynn
LaurieLynn

@nikavt  My daughter's father is very involved in her life (as he has stated below). The interviewer was focused primarily on my personal story as the incidental finding of the cancer-suppressant gene was inherited by me; hence, it was intended to be an insight as to how genetic testing can impact the individuals seeking the information and, in my case, how it affected me personally, as well as my other children who are no relation to my ex-husband. It was not a story about my older daughter, specifically, which is why his role in her life was not a matter of focus or addressed. That said, I do feel that I need to address @tadchem  when he called me selfish. I am the furthest thing from selfish when it comes to parenting; admitting that because of the time involved in taking my daughters to therapies, doctors, tests, and challenger activities after working full-time that I do not "have a life" simply means that there is very little down time for me to focus on what I might need-- even things most adults take for granted, such as a trip to the dentist, routine physicals, the gym, or anything else for sheer pleasure beyond that which raising children brings. If you could spend a week with me in my home, I think you would understand the profound love, dedication and devotion I have for my children and just how "un"selfish I truly am.

LouMelograna
LouMelograna

@nikavt Hey Nikavt...You better do your research!! I am more involved in Amanda's life than any father out there towards any child.   You have no idea what I do for her. You read one article and all of a sudden you are judge and jury?  Why don't you do a little research before you open your trap.  You are probably some stay at home spinster with 47 cats in the house.

LaurieLynn
LaurieLynn

@LouMelograna @swarsang My decisions to seek answers to explain my daughter's medical issues have ALWAYS been rooted in one thing-- to provide the best possible care for her that will enable her to live as long, as healthy, as happy and as struggle-free la ife as possible. That said, it is 100% true that when a child has a diagnosis that is concrete, there are more services available to them when they reach adulthood. I am a planner and like to prepare as much as possible, so I will continue to do what I have always done for my children-- love them first and foremost and ensure that whatever they need, I provide it for them...regardless of what it is.

nikavt
nikavt

@Talendria @swarsang Mothers are more likely to feel responsible because men make them feel that way.  How many times have mothers been held responsible for causing their kids problems?  Think of autism:  supposedly caused by "refrigerator" mothers.  Mothers were also held responsible for their sons being gay, when being gay was considered a bad thing.  Oh, wait -- that's still now for a lot of people.  And don't forget Henry VIII, who executed women for failing to bear living sons, when the "fault" was with his OWN genes and had nothing to do with his wives.  

LouMelograna
LouMelograna

You know Nik, you are a regular NIKAPEDIA! You are so ignorant that I could kick the living shit out of you just for being stupid! Where do you collect your information from? The National Enquirer??? Obviously you have no man or he beats you regularly.  You are a mental midget!