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.
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.
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.
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.
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.
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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