The Trouble with My Daughter’s DNA

October 24, 2012 5:40 AM EDT

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.

Lily Allen’s upcoming album, Sheezus, might poke fun at Kanye West, but on the recently premiered title track, she turns her attention to another crop of royals: Lorde, Beyoncé, Rihanna, Katy Perry and Lady Gaga don’t just get name-checked on “Sheezus” — Allen’s search-engine-optimized opinions of her pop-star peers make up the song’s entire hook. At first, the “Hard Out Here” singer doesn’t exactly sound like she’s full of praise (except for Lorde, who’s “about to slay you”), but listen closely — this is no diss track. If anything, Allen wants her ladies to unite in bringing their A-game: “Second best will never cut it for the divas / Give me that crown, bitch / I wanna be Sheezus.”As Allen hinted in interviews, the downtempo song — which she says, to her dismay, was too slow to be a single contender — has her casually riffing on menstruation (something you don’t hear on the radio everyday) and repeating the word “period” like she was Beyoncé on “Drunk in Love.”Is #period the new #serfbort? Probably not. Is Allen about to go all Game of Thrones on her competition? Judging by early previews of Sheezus, the answer is yes.The British singer name-checks Rihanna, Lady Gaga, Katy Perry, Beyoncé and Lorde on her new album's title track "Sheezus"

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.”

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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.

When Facebook announced its stunning agreement to acquire messaging app WhatApp last February for $19 billion in stock, cash and restricted stock units, Mark Zuckerberg said that the startup was on track to reach a billion users. That pretty much explained his interest: It's a figure that doesn't come up often when discussing networked services other than...well, Facebook. As of today, it's official: WhatsApp is halfway there. In a blog post today, it's announcing that the app has 500 million users--not just people who registered, but ones who are active participants. I recently sat down with CEO and cofounder Jan Koum at the company's headquarters in Mountain View, Calif. to talk about the news. Judging from its periodic statements over the past year, WhatsApp has been adding around 25 million new active users every month, a pace that isn’t slowing. The 500 million people now on board send tens of billions of text messages a day, along with 700 million photos and 100 million videos. "On one hand, we were kind of expecting it," Koum says of reaching the half-billion mark. "We got to 200 million users, 300 million users, 400 million users. It was going to happen sooner or later. But we think it’s an exciting number to share with the world and a good milestone to acknowledge what’s all been organic growth.” In the U.S., WhatsApp is still probably best known as that company Facebook is in the process of buying. (The FTC signed off on the sale earlier this month--while emphasizing that WhatsApp must continue to abide by privacy promises it made to users--but other regulatory approvals are still pending internationally.) In much of the world, though, it’s already the app all your friends and relatives are using instead of carrier-provided text messaging. Koum says that the app's torrid growth tracks with the boom of smartphones--especially Android models. As people in a country join the smartphone era, some of them get WhatsApp. And then their friends and family members do, too, and the service explodes. [caption id="attachment_71129" align="alignright" width="180"] WhatsApp's Android version WhatsApp[/caption] Right now, “the four big countries are Brazil, Mexico, India and Russia," he says. "People who never used computers, never used laptops, never used the Internet are signing up.” Rather than going after any particular country, Koum says, WhatsApp has always obsessed about the overall usage number. "We're pretty confident that eventually we will a reach tipping point in the U.S. as well. Russia only tipped in the last six months. A switch flipped, and we took off." Though WhatsApp's customer base may skew towards young people who like to share lots of quick messages and lots of photos, Koum says that it's a mistake to assume that it's just kids who are keeping the app growing. "We hear lots of stories where grandparents go to a store and buy a smartphone so they can keep in touch with kids and grandkids," he says. That dynamic is helped by the app's ridiculously easy setup--you don't even have to create a user name or password--and features such as the ability to adjust the font size for easy readability. The growth in smartphones isn't enough to keep WhatsApp growing, however. There may be roughly two billion smartphones in the world, Koum notes, but between 500 million and one billion of them may be used without a data plan. In most cases, that's because of cost, but the availability of Internet access isn't a given everywhere. “We take [connectivity] for granted in Silicon Valley, where you turn on your phone and see twenty different Wi-Fi networks," he says. He told me how moved he'd been by a National Geographic photo showing people in Djibouti in the Horn of Africa standing on a beach with their phones in outstretched arms, trying to catch a stray wireless signal from neighboring Somalia, and says that he's passionate about efforts such as Internet.org, a partnership between Facebook and mobile technology companies to bring Internet access to everybody, everywhere. [time-pullquote]"We have no plans to change anything about how we execute."[/time-pullquote]Even in developed countries, "not everybody is on a data plan, which is unfortunate," he says. So for the past two and a half years, WhatsApp has been busy partnering with wireless carriers around the world to offer affordable access to its service. “We’ve done some really cool deals, and they’re not all cookie-cutter,” Koum explains. In India, you can sign up to get unlimited WhatsApp for 30 cents a month. In Hong Kong, you can buy a WhatsApp roaming pass. In Germany, there are WhatsApp-branded SIM cards, with unlimited WhatsApp service and starter credits for voice and data. Rather than carriers looking at WhatsApp solely as a scary, disruptive force killing their ability to make money off text messaging, such offerings turn the service into a "win-win-win," Koum says. "Users get unlimited WhatsApp. We get happy users who don’t have to worry about data. Carriers get people willing to sign up for data plans.” The Future--and Oh Yeah, Facebook For all of its growth, WhatsApp remains a famously lean operation: It got those 500 million active users with a team that only recently reached 60 staffers, for a ratio of over eight million users per employee. Koum says that the company doesn't need to grow huge to serve even more folks. But "we do need more people--we're actively hiring," he says. In particular, it's beefing up its ability to provide customer support in more languages, including Portuguese, German, Ukranian, Polish and Romanian. "If anyone reading this article speaks multiple languages, they should apply," he jokes. When news of the Facebook acquisition broke, it inspired many people to worry about what it meant for the future of WhatsApp, whose business model has had a decidedly un-Facebookian slant in the past. The company makes money from customers--who pay 99 cents a year for service after the first year--and has been staunchly anti-advertising. Both companies said at the time that WhatsApp would continue to be run independently and according to its existing principles, a point Koum stressed when I asked him about it. "What makes our product work is the way we're tightly focused on messaging and being an SMS replacement," he says. The company plans to stick with that approach as it looks to "continuing to get to a billion users, and then two billion users. I think Facebook understands that, and Mark [Zuckerberg] understands that quite well. We have no plans to change anything about how we execute." As for competition from other messaging apps--and boy, is there a lot of it--Koum told me that some of WhatsApp's rivals, such as Japan's Line and China's WeChat, are getting distracted from their core missions. People use WhatsApp, he says, to "keep in touch with each other, not movie stars or sports stars or random people you meet on the Internet. That’s why we're succeeding internationally." "We want to do one thing and do it really well. For us, that's communications between people who are friends and relatives."Not yet part of Facebook, which is still in the process of buying it, or a household name in the U.S., the messaging app is continuing to grow, and grow and grow, adding around 25 million new active users every month

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.

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