Choosing a partner to have children with is like playing a genetic lottery. Pakistani Sobia Qureshi and Canadian Zahid Bashir had the worst of luck. Both were carriers of a very rare mutation that, if it coincides in both parents, causes their children to suffer from a lethal disease and die before the age of two. His first two girls, Zara and Sara, passed away like this. The third, Ayla, was destined to die too, but pioneering treatment when she was still a fetus in her mother’s womb has saved her life for the time being. Ayla is now 16 months old and runs around happily. The strategy could be useful in other rare genetic diseases.
The curse of the three girls is Pompe disease, a very rare genetic disorder -one in 100,000 births- that causes a lack of a protein that breaks down glycogen, the sugar store in the muscles. The defect causes this substance to dangerously accumulate in muscle cells. Children die with a gigantic heart.
To the pediatric surgeon Tippi MacKenzie, from the University of California at San Francisco (United States), came up with a solution. Currently, people with the less severe variant of the disease regularly go to hospital to receive intravenously the missing protein, obtained in Chinese hamster ovary cells. MacKenzie thought it might work for him to inject it much sooner: directly into the fetus’s tiny umbilical cord. After six doses in different sessions, Ayla was born with a perfect heart. Before the girl, the technique had only been tested on mice. The success has been published this Wednesday in the medical journal The New England Journal of Medicine.
The parents, Sobia Qureshi and Zahid Bashir, residents of Ottawa, knew they had the worst genetic lottery ticket, but decided to keep playing the same number. The doctor Montserrat Morales, from Madrid’s 12 de Octubre hospital, explains that there was another much simpler option on the table: preimplantation genetic diagnosis, an assisted reproduction technique in which embryos with lethal genetic mutations are discarded and transferred to the mother’s uterus only the apparently healthy. Some people with different religious beliefs, however, view these medical alternatives with suspicion. Qureshi and Bashir, Muslims, rejected this option.
The Koran, written in the 7th century, obviously does not mention preimplantation genetic diagnosis, but the leaders of Islam have taken care to dictate rules, such as details on its website the Instituto Bernabéu, a Spanish organization with eight assisted reproduction clinics. Islamic law, for example, prohibits artificial insemination if the semen is from a donor, but allows it with the husband’s sperm, as long as the masturbation is performed by the wife herself. “The selection of embryos with the best evolution is allowed, as long as the rest of the embryos not transferred to other patients are not donated. Abortion is prohibited in Islam, but it is allowed to discard abnormal embryos or those that have not been transferred to the mother’s uterus, since they do not have the status of a fetus”, according to the Instituto Bernabéu. Qureshi and Bashir made another decision.
Montserrat Morales is a specialist in inborn errors of metabolism at 12 de Octubre, one of the largest hospitals in Spain, with almost 1,200 beds. The 48-year-old doctor has only seen about 15 cases of Pompe disease in her life. In his opinion, the new treatment will only benefit a very specific group of parents: “Those who already have a child, because it is the only way for them to know that it is going to touch them again, and that they decide to continue with another pregnancy at in spite of everything”.
The Catholic Church has also charged against the selection of embryos, even if it is to avoid deadly diseases. The Spanish bishops attacked the technique from the very beginning, in 2006. In Spain, however, preimplantation genetic diagnosis is socially accepted and covered by public health for certain very serious illnesses. In the United States, a country with greater religious fanaticism and a privatized health system, cases like Ayla Bashir’s are more common.
Pompe disease is one of more than 40 lysosomal storage diseases, so called because all of them lack specific proteins from lysosomes, the organelles responsible for cellular digestion. The University of California, San Francisco already has clinical trials underway to test fetal treatment for another eight of these inherited disorders: five types of mucopolysaccharidoses, two types of Gaucher disease, and Wolman disease.
The doctor Monica Lopez, a specialist in minority diseases at the Ramón y Cajal hospital in Madrid, warns of the uncertainties. “It is not going to be the curative treatment, it is not the panacea,” she stresses. Little Ayla will have to receive injections of the missing protein every one or two weeks for the rest of her life, if science does not discover another therapy. “These guys, most likely, will gain much more time to live [con este nuevo tratamiento en el feto] and, perhaps, they will reach adolescence or youth in much better conditions than those who receive treatment when they are already several months old, but I see it as difficult for them to develop normally,” says López.
Ayla’s father has celebrated the success of the experiment it’s a statement. “We didn’t know if he would be able to walk, talk, eat, laugh. As he reaches each of these milestones, we continue to be amazed at his progress. We are well aware that she is a miracle,” says Zahid Bashir. Those who do not believe in gods simply call it science.
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