The Trouble With My Daughter’s DNA
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.