Many dwarfism advocates and the families of children with achondroplasia are eager to know whether the drugs improve health by addressing the complications that can accompany the disorder and are sometimes life threatening. And although a few extra centimetres might make it easier for people with dwarfism to manage in a world built for taller people, “height is not a medical problem”, says Andrea Schelhaas, a genetic counsellor at the Skeletal Dysplasia Program at Nemours Children’s Health in Wilmington, Delaware, who works with people who have achondroplasia and has the condition herself. Their approvals hinge on the drugs’ ability to make children grow taller, faster. How a controversial US drug policy could be harming cancer patients worldwide Meanwhile, the maker of Voxzogo - BioMarin in San Rafael, California - is seeking approval to extend its treatment to younger children and infants in the United States and Europe. Now, four other drug companies have related compounds in late-stage clinical trials. The drug helps children with achondroplasia to grow taller by targeting the molecular pathways responsible for the condition. Eighty per cent of people with achondroplasia, like Liberty, are born to parents of average height.įor generations there has been no treatment, but that changed in 2021 with the approval of Voxzogo (vosoritide) for children aged five and over by the US Food and Drug Administration (FDA), and for those aged two and older by the European Medicines Agency. Parents can pass the condition on to their children, but in most cases the mutation arises spontaneously. It arises from a mutation in a single gene that plays a crucial part in bone growth, and that results in an average adult height of 124–132 centimetres. Liberty has achondroplasia - the most common form of dwarfism - which affects about 250,000 people worldwide. This was not one of them.Īfter the baby, named Liberty, was born, physicians took a sample of umbilical cord blood and sent it for genetic testing. He and Samantha had discussed so many what-ifs. Mike remembers feeling overwhelmed by the uncertainty. The physician couldn’t make an official diagnosis, but she suspected that the Andersons’ baby might have a type of dwarfism. “The ultrasound tech started getting quieter and quieter as she measured and remeasured,” he says. It was at that next appointment that Mike Anderson remembers getting worried. The physician wasn’t too concerned, but he asked Anderson and her husband Mike, who live in Merced, California, to come in for another ultrasound in the third trimester, just to be safe. That scan revealed that her baby had some excess fluid in their skull. Until an ultrasound scan at 20 weeks, Samantha Anderson’s second pregnancy had been going according to plan. Four-year-old Liberty Anderson has a form of dwarfism called achondroplasia, which affects about 250,000 people worldwide.
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