The toddler, now 16 months old, is growing up healthy.
In a medical first, doctors successfully treated a fetus for a fatal genetic condition called Pompe disease, according to a
Alya was identified with severe Pompe disease while she was still a fetus. She is her parents' fifth child but only the third to survive. The other two, Zara and Sara, died of the same disease.that affects about 1 in 40,000 births. It is caused by mutations in a gene that makes a crucial enzyme called acid alpha-glucosidase . This enzyme breaks down glycogen, or stored sugar, in cells.
"The rationale for giving ERT before birth is to prevent the onset of organ damage, to get the enzyme into the [central nervous system] prior to closure of the blood-brain barrier, and to avoid an immune response to the missing protein," said senior study author Tippi MacKenzie, UCSF researcher and developer of the team's protocol in a statement.To treat Alya before birth, researchers from UCSF teamed up with doctors at the Children's Hospital of Eastern Ontario in Canada.
Upon delivery, Alya's heart was normal; at 16 months, she is meeting all of her developmental milestones on time. There's also evidence that her body is more tolerant towards the therapy than it would typically be, compared to how her siblings responded to it. Ayla continues to get weekly infusions of enzyme therapy to maintain her development.
United States Latest News, United States Headlines
Similar News:You can also read news stories similar to this one that we have collected from other news sources.
UCSF doctors help successfully treat rare, deadly genetic disease in utero for first timeThe University of California San Francisco researchers are now recruiting other families with pregnancies where the fetus has been identified as being affected with Pompe disease, or similar geneti…
Read more »
This child was treated for a rare genetic disease while still in the wombBabies born with infantile-onset Pompe disease typically have enlarged hearts and weak muscles. But 1-year-old Ayla has a normal heart and walks.
Read more »
Another election first: California sending first openly gay immigrant to CongressIn a pair of historic firsts, Robert Garcia, the former Long Beach mayor, is set to become the first openly gay immigrant in Congress. The candidate who could take over Garcia's former job would become the city's first Black mayor.
Read more »
Leading as a First-Time, First-Generation ManagerWhile there’s extensive research on the glass ceiling and how to break it, there’s less talk about its close relative, the “concrete wall” — a set of obstacles that keep BIPOC professionals, especially women, from securing high-level positions. So, what happens when you finally chip away at the wall and move into a managerial position for the first time? What should you do if you’re the first person in your family to navigate this new opportunity? Star from within. Confidence is a cornerstone of leadership. Whenever you feel unsure of yourself as a new leader, take a moment to remember the unique upbringing and point of view that got you to where you are today. Use your strengths to build a foundation of confidence. Then, add to it. Emulate the leadership styles of mentors or managers you admire. Observe them, ask for their advice, and take on the traits that resonate with you most. Get comfortable relinquishing control of the details and ask for help when you need it. This may be tough if you’re used to doing it all. While it can be hard to let go and stop exercising the technical skills that made you a great candidate in the first place, being a manager requires a new level of support — more listening and guiding others than doing. Finally, seek to build community on your team. Schedule weekly one-on-ones with each of your direct reports and use a part of this time to better understand how their personal lives affect how they show up to work. The goal is to make them feel seen, appreciated, and heard as a human being, not just a “worker.”
Read more »
In a first, doctors treat fatal genetic disease before birthA toddler is thriving after doctors used a novel technique to treat her before she was born for a rare genetic disease.
Read more »