Doctors 'cure' girl of deadly disease BEFORE she's born
Nov 14, 2022 14:27:05 GMT -5
Post by schwartzie on Nov 14, 2022 14:27:05 GMT -5
Doctors 'cure' girl of deadly disease BEFORE she's born in world-first procedure — sparing her from rare condition that killed two of her sisters
Pompe disease affects less than one in 100,000 babies, but it is fatal and genetic
Ayla Bashir, 16 months, is growing normally after doctors treated her as a fetus
They injected her mother six times with crucial enzymes the baby was missing
By CAITLIN TILLEY, HEALTH REPORTER FOR DAILYMAIL.COM
PUBLISHED: 15:44 EST, 11 November 2022 | UPDATED: 16:35 EST, 11 November 2022
Doctors have treated a girl with deadly genetic disease before she was even born, in a world-first.
Ayla Bashir, a 16-month-old from Ontario, was given an enzyme therapy that was injected into her mother's stomach and traveled to the fetus via the umbilical cord.
Little Ayla has infantile Pompe disease, a rare condition caused by a mutation in a gene which makes an enzyme responsible for keeping cells healthy.
The enzyme, acid alpha-glucosidase (GAA), is needed to break down glycogen, or stored sugar, in cells. Without it, cells are flooded with glycogen and stop working, eventually shutting down major organs.
The hereditary disorder killed two of her sisters when they were two-and-a-half-years and eight months old.
Doctors injected Ayla's mother in the stomach six times with the crucial missing enzymes, which traveled down the umbilical cord to the fetus.
The enzymes broke down glycogen in the cells, ensuring it was kept at a safe level. She is the first child treated for the disease as a fetus.
‘Thriving’ Ayla is now a ‘regular little one-and-a-half year old who keeps us on our toes’, her mother Sobia Qureshi said.
She added: ‘It's surreal. It amazes us every time. We're so blessed. We've been very, very blessed.’
Ayla (pictured), 16 months, was the third daughter of Sobia Qureshi to have the rare condition, but she is the only one to survive
Her mother said Ayla's progress was 'surreal'. She added: 'It amazes us every time. We're so blessed. We've been very, very blessed.’
WHAT IS POMPE DISEASE?
Pompe disease is a rare genetic condition which affects less than one in 100,000 babies.
It is caused by a mutation in a gene which makes a key enzyme, meaning the body cannot make enough or any of it.
The enzyme, acid alpha-glucosidase (GAA), is needed to break down glycogen, or stored sugar, in cells.
If levels of glycogen get too high, it can be toxic, and organs and tissues can be damaged throughout the body.
Babies with Pompe disease have trouble feeding, muscle weakness, floppiness and often have enlarged hearts.
If untreated, most die from heart or breathing problems in the first year of life.
Ayla is the first person to be treated for the disease before they are born.
Babies with Pompe disease have trouble feeding, muscle weakness, floppiness and often have enlarged hearts.
If untreated, most die from heart or breathing problems in the first year of life.
Ayla takes drugs to suppress her immune system as well as weekly enzyme infusions lasting five to six hours.
Until a new treatment is developed, Ayla will have to have the infusions for the rest of her life.
In late 2020, Ms Qureshi and Zahid Bashir, Ayla’s father, discovered they were pregnant with Ayla.
Prenatal tests showed the baby had Pompe disease.
Both parents carry a recessive gene for the condition, meaning there is a one in four chance a baby will inherit it.
Doctors have treated fetuses prior to birth for three decades, including performing surgeries to repair defects such as spina bifida, where the spinal cord fails to develop properly.
They’ve given blood transfusions to fetuses through the umbilical cord, but not medicines.
Dr Pranesh Chakraborty, a metabolic geneticist at Children's Hospital of Eastern Ontario, who has treated Ayla's family for years, said: ‘The innovation here wasn't the drug and it wasn't accessing the fetal circulation.
‘The innovation was treating earlier and treating while still in utero.’
Continued at link
Pompe disease affects less than one in 100,000 babies, but it is fatal and genetic
Ayla Bashir, 16 months, is growing normally after doctors treated her as a fetus
They injected her mother six times with crucial enzymes the baby was missing
By CAITLIN TILLEY, HEALTH REPORTER FOR DAILYMAIL.COM
PUBLISHED: 15:44 EST, 11 November 2022 | UPDATED: 16:35 EST, 11 November 2022
Doctors have treated a girl with deadly genetic disease before she was even born, in a world-first.
Ayla Bashir, a 16-month-old from Ontario, was given an enzyme therapy that was injected into her mother's stomach and traveled to the fetus via the umbilical cord.
Little Ayla has infantile Pompe disease, a rare condition caused by a mutation in a gene which makes an enzyme responsible for keeping cells healthy.
The enzyme, acid alpha-glucosidase (GAA), is needed to break down glycogen, or stored sugar, in cells. Without it, cells are flooded with glycogen and stop working, eventually shutting down major organs.
The hereditary disorder killed two of her sisters when they were two-and-a-half-years and eight months old.
Doctors injected Ayla's mother in the stomach six times with the crucial missing enzymes, which traveled down the umbilical cord to the fetus.
The enzymes broke down glycogen in the cells, ensuring it was kept at a safe level. She is the first child treated for the disease as a fetus.
‘Thriving’ Ayla is now a ‘regular little one-and-a-half year old who keeps us on our toes’, her mother Sobia Qureshi said.
She added: ‘It's surreal. It amazes us every time. We're so blessed. We've been very, very blessed.’
Ayla (pictured), 16 months, was the third daughter of Sobia Qureshi to have the rare condition, but she is the only one to survive
Her mother said Ayla's progress was 'surreal'. She added: 'It amazes us every time. We're so blessed. We've been very, very blessed.’
WHAT IS POMPE DISEASE?
Pompe disease is a rare genetic condition which affects less than one in 100,000 babies.
It is caused by a mutation in a gene which makes a key enzyme, meaning the body cannot make enough or any of it.
The enzyme, acid alpha-glucosidase (GAA), is needed to break down glycogen, or stored sugar, in cells.
If levels of glycogen get too high, it can be toxic, and organs and tissues can be damaged throughout the body.
Babies with Pompe disease have trouble feeding, muscle weakness, floppiness and often have enlarged hearts.
If untreated, most die from heart or breathing problems in the first year of life.
Ayla is the first person to be treated for the disease before they are born.
Babies with Pompe disease have trouble feeding, muscle weakness, floppiness and often have enlarged hearts.
If untreated, most die from heart or breathing problems in the first year of life.
Ayla takes drugs to suppress her immune system as well as weekly enzyme infusions lasting five to six hours.
Until a new treatment is developed, Ayla will have to have the infusions for the rest of her life.
In late 2020, Ms Qureshi and Zahid Bashir, Ayla’s father, discovered they were pregnant with Ayla.
Prenatal tests showed the baby had Pompe disease.
Both parents carry a recessive gene for the condition, meaning there is a one in four chance a baby will inherit it.
Doctors have treated fetuses prior to birth for three decades, including performing surgeries to repair defects such as spina bifida, where the spinal cord fails to develop properly.
They’ve given blood transfusions to fetuses through the umbilical cord, but not medicines.
Dr Pranesh Chakraborty, a metabolic geneticist at Children's Hospital of Eastern Ontario, who has treated Ayla's family for years, said: ‘The innovation here wasn't the drug and it wasn't accessing the fetal circulation.
‘The innovation was treating earlier and treating while still in utero.’
Continued at link
