Advertisements
Thousands of children paralyzed by a cruel muscle wasting disease will benefit from a groundbreaking new drug - the first UK-approved treatment to save those born with spinal muscle atrophy, a form of muscular dystrophy. The two-year-old Hune Gascoigne (above), from Stoke-on-Trent, was one of the first patients in England to benefit from the new drug

Thousands of children paralyzed by a cruel muscle wasting disease will benefit from a groundbreaking new drug – the first UK-approved treatment to save those born with spinal muscle atrophy, a form of muscular dystrophy.

Advertisements

Spinraza, which is injected into the spine, has already helped some sick young people to walk, talk and breathe easily again.

Others who have a little more than a year to live after being born with the condition, still live well since they have the drug long after their second birthdays.

Last week, NHS England announced that the drug would be available to treat the genetic disease that affects an estimated 1,300 British children and adults.

Thousands of children paralyzed by a cruel muscle wasting disease will benefit from a groundbreaking new drug - the first UK-approved treatment to save those born with spinal muscle atrophy, a form of muscular dystrophy. The two-year-old Hune Gascoigne (above), from Stoke-on-Trent, was one of the first patients in England to benefit from the new drug

Thousands of children paralyzed by a cruel muscle wasting disease will benefit from a groundbreaking new drug – the first UK-approved treatment to save those born with spinal muscle atrophy, a form of muscular dystrophy. The two-year-old Hune Gascoigne (above), from Stoke-on-Trent, was one of the first patients in England to benefit from the new drug

The magic bullet Spinraza is injected into the spine and it has already helped some sick young people to walk, talk and breathe easily again. Above, Hune with her mother, Zeedee Sawyer-Hartley, 27, and Zeedee & # 39; s partner Ben Gascoigne, 30

The magic bullet Spinraza is injected into the spine and it has already helped some sick young people to walk, talk and breathe easily again. Above, Hune with her mother, Zeedee Sawyer-Hartley, 27, and Zeedee & # 39; s partner Ben Gascoigne, 30

Advertisements

The magic bullet Spinraza is injected into the spine and it has already helped some sick young people to walk, talk and breathe easily again. Above, Hune with her mother, Zeedee Sawyer-Hartley, 27, and Zeedee & # 39; s partner Ben Gascoigne, 30

The condition that robs the muscles of the body of their strength varies in severity. The worst and most common form, called type 1, usually leads to death within the first two to four years of its life. Less serious types can still cause lifelong suffering, and few can walk without help.

The NHS ruling brings England, Wales and Northern Ireland into line with dozens of other countries – including Scotland – where Spinraza has been available for more than a year.

& # 39; This is fantastic news & # 39 ;, said Catherine Woodhead, chief executive of the charity Muscular Dystrophy UK. & # 39; Children who are already being treated reach milestones that were never thought possible and live longer. Now hundreds of others get the same chance. & # 39;

The breakthrough drug could also pave the way for revolutionary new treatments for other muscle breakdown conditions affecting up to 70,000 people in the UK.

The condition that robs the muscles of the body of their strength varies in severity. The worst and most common form, called type 1, usually leads to death within the first two to four years of its life. Less serious types can still cause lifelong suffering, and few can walk without help. Hune was diagnosed with spinal muscle atrophy at just six months old when her parents noticed she & # 39; limp & # 39; and lost the ability to grab things

The condition that robs the muscles of the body of their strength varies in severity. The worst and most common form, called type 1, usually leads to death within the first two to four years of its life. Less serious types can still cause lifelong suffering, and few can walk without help. Hune was diagnosed with spinal muscle atrophy at just six months old when her parents noticed she & # 39; limp & # 39; and lost the ability to grab things

The condition that robs the muscles of the body of their strength varies in severity. The worst and most common form, called type 1, usually leads to death within the first two to four years of its life. Less serious types can still cause lifelong suffering, and few can walk without help. Hune was diagnosed with spinal muscle atrophy at just six months old when her parents noticed she & # 39; limp & # 39; and lost the ability to grab things

Advertisements

In a healthy person, a gene called SMN1 produces a protein that forms a protective outer layer around the nerves in the spine that control the muscles. Without this protective layer, these nerves die, leading to debilitating and often fatal muscle weakness. Many children die when they lose the ability to breathe for themselves.

The two-year-old Hune (pronounced: Who-Nay) Gascoigne, from Stoke-on-Trent, was one of the first patients in England to benefit from the new medicine. She was diagnosed with spinal muscle atrophy at just six months old when her parents noticed that she & # 39; limp & # 39; and lost the ability to grasp things.

Mrs. Zeedee Sawyer-Hartley, 27, says: “I first noticed a problem when I brought her to a five month old mother and baby group. Other babies played with rattles and shook them in the air. But Hune could barely lift them. & # 39;

In the end, nail studio Zeedee and partner Ben Gascoigne, 30, a building supervisor, noticed that she couldn't even lift her head or turn it up – which ran the risk of suffocation.

Ben and Zeedee were given access to a schedule from the producer Biogen, with which children with the most severe forms of spinal muscle atrophy, such as Hune, were given the drug for free. The treatment started in August 2017 and within a few weeks the couple noticed small improvements

Ben and Zeedee were given access to a schedule from the producer Biogen, with which children with the most severe forms of spinal muscle atrophy, such as Hune, were given the drug for free. The treatment started in August 2017 and within a few weeks the couple noticed small improvements

Advertisements

Ben and Zeedee were given access to a schedule from the producer Biogen, with which children with the most severe forms of spinal muscle atrophy, such as Hune, were given the drug for free. The treatment started in August 2017 and within a few weeks the couple noticed small improvements

Eventually they were referred to a physical therapist who specialized in movement for babies, who had serious concerns about the condition of Hune.

And a referral to a pediatrician at the Royal Stoke Hospital confirmed that Hune had type 1 spinal muscular atrophy. Zeedee says: & # 39; Within a few weeks, Hune became completely paralyzed. We were told that she would live for about 13 months, maybe two years if we were really lucky. It was heartbreaking. & # 39;

The couple had no idea that they both wore the defective gene for spinal muscle atrophy until after the birth of Hune. If both parents carry the gene, there is a 25 percent chance that their child will develop spinal muscular atrophy.

Ben discovered online that Spinraza has changed the lives of many children worldwide. The drug, a synthetic form of genetic material known as an antisense oligonucleotide, allows the defective gene to produce healthy amounts of protective protein. This allows nerve cells to function effectively again, improving muscle strength and alleviating weakness that makes limbs impossible.

Advertisements

A drug study in 2016 was stopped early because it turned out to be so effective that it was considered unethical to deprive patients in the study's placebo arm of the opportunity to benefit. Other American studies have shown that children who receive the drug survive their prognosis for years.

Ben and Zeedee were given access to a schedule from the producer Biogen, with which children with the most severe forms of spinal muscle atrophy, such as Hune, were given the drug for free. The treatment started in August 2017 and within a few weeks the couple noticed small improvements.

& # 39; She could hold a toothbrush & # 39 ;, Zeedee says. & # 39; Now she is without support for an hour or more and she can even stand – we are told she could never do this.

& # 39; She goes to the day care center and we apply for a place at the regular school. One of her doctors recently discussed her outlook and said, "When Hune comes to around 20 …" I never thought this would ever be possible, but now we have real hope that it will be. & # 39;

. (TagsToTranslate) Dailymail (t) health (t) nhs