Little Amalya only lived for an hour and 20 minutes.
The child was born with anencephaly, a devastating and almost always fatal condition in which parts of the skull and brain to fail to develop. After Amalya died, his parents, Eric and Bethany Conkel, donated their son’s organs and body for medical research, with the aim of saving the lives of other children.
Amalya’s illness, anencephaly, is what’s known as a neural tube defect. During the first month of pregnancy, the neural tube — which will develop into the brain, skull, and spinal cord — fails to close properly. About one in every 4,859 babies born in the US have anencephaly, the CDC estimates, and almost all die soon after birth.
While the cause of anencephaly is not known, it appears to be the result of a mixture of genetics, behaviour, and environment.
Dozens of genes may influence the risk of a child developing anencephaly. The most well-studied is a gene called MTHFR, which contains instructions for making a protein that is involved in processing folic acid (vitamin B9). Low intake of folic acid before and during early pregnancy is known to increase the risk of developing the disorder.
But other congenital diseases — like cystic fibrosis or sickle cell anemia — are the result of simple genetic mutations. And a promising new genetic tool that lets scientists cut and paste DNA could be used to replace the defective genes in human embryos that cause some of these diseases.
A promising, yet controversial, tool
Known as CRISPR/Cas9, the technique has been compared to cutting and splicing analogue film, only with genes. Researchers in China have already used CRISPR to modify human embryos, although the embryos were never meant to survive.
Many scientists hope that gene editing could ultimately be used to prevent or cure many genetic disorders.
But despite CRISPR’s promise, some worry that gene editing technology is too risky, or that it could be used to create “designer babies” with traits that aren’t medically necessary, such as intelligence or athleticism.
Bethany Conkel, a former special education teacher and founder and president of a nonprofit called Purposeful Gift, is of the view that we should continue developing gene editing technology if it could theoretically prevent a baby being born with a genetic disease.
That’s not to say that parents of children with special needs don’t love them just as much as any other child, but “having a healthy child is something wonderful,” Conkel told Business Insider.
“If we can save the heartbreak and allow parents to have healthy children, that would be amazing,” she said.
If gene editing could help cure genetic diseases and save some of the heartbreak she and her husband went through when they lost their baby, then it should definitely be explored, Conkel said.
The potential to save lives
The Conkels went to great lengths to donate their son’s body and organs to research labs. They started Purposeful Gift to educate families and medical staff about fetal donation.
“That research is going to save lives down the road,” Conkel said. “That’s why the new tecnology with gene editing should be explored more. The goal is to help save lives, and improve quality of life.”
Just last week, some of the world’s leading scientists and bioethicists met in Washington, DC, to debate the proper use of gene editing in humans.
During one of the sessions, one of Conkel’s friends, a woman named Sarah Grey, got up to speak. Grey, a marketing director at the American Association of Tissue Banks, also had a child born with anencephaly. Her son died of the disease six days after he was born, but not before he suffered from severe seizures.
Grey made an impassioned plea to the scientists developing gene editing technology:
“If you have the skills and the knowledge to fix these diseases, then frickin’ do it!” she said.
Watch a YouTube video of Grey’s plea:
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