For the first time, doctors have successfully treated a fetus by injecting a crucial enzyme into it's tiny cord.
The baby, Ayla Bashir, is currently 16 months old and is developing normally.
Behind the result of Ayla's treatment is a medical drama featuring passionate researchers at three medical centers and the doctors who were moved by the family's plight.
The hope is that their experience will pave the way for fetal treatments that alter the course of a variety of severe genetic diseases.
The group reported that after they submitted their results for publication, a fetus was treated for Hunter's syndrome before it was born. The baby was born on October 27th.
Ayla has a genetic disorder that can cause death in the first year of life. She is the only one of her siblings to survive. The parents of the two girls who died of the disease watched as the disease weakened their babies' muscles, robbing them of their ability to move until they died.
The idea for the treatment that saved Ayla came from a doctor. She and her team had previously treated children with the disease. The fetal recipients of blood and stem cell transplants had a needle inserted into their cords to give them fresh blood.
That made her think. There are rare genetic conditions called lysosomal storage diseases, in which a missingidase leads to a build up of toxic substances in cells. It is possible to treat a few of these diseases by injecting the missing enzyme after birth. As irreversible damage can start before birth, Dr. MacKenzie wondered if she could treat the diseases with the help of the umbilical cords.
She tried it with animals with a disease called Mucopolysaccharidosis type VII. In its most severe form, it results in a condition called hydrops fetalis, which is characterized by a fatal amount of fluid in the body.
She said that the mice did well.
A woman who was pregnant with a baby with severeMPS7 was referred to a doctor. By the time the procedure was approved by the FDA, the disease was so advanced that Dr. MacKenzie decided not to do it. The baby was dead.
The F.D.A. suggested a trial that would include any fetus with a lysosomal storage disease. There are a few diseases that are very rare. In the United States, just six or seven babies a year are born with a rare disease.
She waited for referrals of pregnant women with lysosomal storage diseases after getting F.D.A. approval.
The first person was Ms. Qureshi.
They always wanted children at least 3 years old. They thought they'd have a family when they married. There are two people from Pakistan and one from Canada. They knew each other. The couple said their marriage was an arranged one in Pakistan.
They didn't know what to expect when Ms. Qureshi became pregnant.
The first baby with Pompe disease was born in 2011. She was referred to a doctor when she was just 5 months old.
Babies were given acid alpha-glucosidase every two weeks along with drugs to suppress their immune systems so they wouldn't develop an allergy to it.
She spent a month in intensive care after her lungs collapsed on the day she was supposed to be treated. Her ability to swallow deteriorated so much that she needed a feeding tube.
When she was 612 months old, she began the treatment.
It was difficult for her parents to stop treatment when she was 2 years old. She passed away peacefully at home.
Dr. Chakraborty's daughter was born four days after Zara and he could not help but notice the sad contrast.
Ms. Quer Shi was pregnant again in 2016 Severe Pompe was found once again.
Mr. Bashir and Ms. Quershi decided to give their baby only palliative treatment.
It was a very difficult decision. We didn't want her to suffer because there was no hope.
Sara passed away when she was 8 months old.
Dr. Chakraborty received a call from Ms. Qureshi. The fetus she was pregnant with was found to have Pompe disease.
Even if the baby could not be saved, Ms. Qureshi and Mr. Bashir wanted to treat the fetus in hopes of reducing her suffering.
A researcher at Duke University called Dr. Chakraborty to ask for advice on how to proceed with their research.
The doctor wanted to organize the options. Is there a new thing? Can we do anything?
When she was a medical student, Dr. Kishnani found a way to treat lysosomal storage diseases. There are milder forms of the diseases, in which patients can have no symptoms for years or even decades before their hearts and muscles begin to weaken and they develop serious health problems. The outcomes were tragic.
We used to see babies with Pompe disease. We told the parents that this is a lethal disease. Enjoy your baby, go home.
When her colleagues at Duke attended the funeral of a baby with the disease, the tipping point was reached. She made a vow that this wouldn't go on.
After a decade of searching for a treatment, she and her colleagues were ready to try to treat babies by injecting them with the missingidase.
Two of the babies did not survive the first time they were treated. The researchers found that children had a severe form of the disease and their bodies didn't make any of theidase. The babies had an immune system that destroyed the enzyme when it was injected.
They might be able to work if the babies were suppressed.
She started a study at Duke that gave babies from all over the world a five week course of immunosuppression.
She said that it worked. She said she found a way to help after treating about 70 babies. Many of the children have muscle weakness.
The problem was that Pompe disease starts in fetal life and muscles that are weakened can't be restored. Doctors say the best way to stop the destruction is after birth.
A delayed diagnosis can mean that the disease has reached a point of no return.
The doctor told him there might be a way to prevent the consequences of Pompe. The trial was about to begin. Dr. MacKenzie and her group at Duke were going to try to provide the missing enzyme before a baby was born. It wasn't possible to get the drugs into the fetus's circulation. After the babies grow to tolerate the enzymes, immune suppression can be stopped.
A group of doctors were trying to arrange a way to deliver the treatment. She would have to go to San Francisco for the trial if she were to enroll. There was a risk of a premature delivery due to the infusions.
The coronaviruses got in the way of Ms. Qureshi and Mr. Bashir taking that risk.
It was a very difficult decision to make. She told the doctors that she didn't want to go to San Francisco.
She understood from her doctor, Dr. Karen Fung-Kee-Fung. She said that the barriers were impossible to overcome.
The only way Ayla could be treated in Canada was through a clinical trial. The doctors in Ontario had to get permission from the hospital to try the off-label treatment.
They had to get the drug from a Canadian company. Doctors wanted to treat a fetus but the company had to convince them that the drug could be used.
The drug was put into the fetus's cord six times after that. All indications were that Ayla was progressing well. Her heart muscle didn't grow as thick as it had in her siblings. It is normal for a healthy fetus to be breathing and moving normally.
Ayla was born on June 22, 2021, according to Dr. Fung-Kee-Fung.
Her parents were unsure if she could hold up her head. She would be able to crawl.
Right on time, she could.
Mr. Bashir said that he was not cautiously optimistic.
Ms. Qureshi was relieved.
She said that she and her husband don't plan to have any more children.
Ms. Qureshi said that they had had their fair share of adventures.
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