Two parents of boys with spinal muscular atrophy (SMA), are supporting a campaign to have a simple, but potentially life-changing blood test performed at birth.
SMA is a rare condition that weakens the muscles. 90% of children with this type of SMA will die before they reach two years.
Liz McMahon, David Ryan, and Sean Ryan are parents to two sons, Luke, 4 and Sean, 2 with SMA.
Their second child, who was diagnosed earlier, has a dramatically different life.
Liz, from Mornington in County Meath in the Republic of Ireland, said, "Before Luke's birth, SMA wasn't something we had ever heard of."
SMA is a potentially fatal and life-limiting condition that affects motor neurons. This causes muscles to become weaker, making it difficult for people to move, breathe, and swallow.
SMA treatment can be difficult because the diagnosis is usually only made when the child is experiencing serious clinical symptoms such as movement problems. At that point, many motor nerves may have been damaged.
The condition can be detected at birth by a blood spot test, which allows for quicker treatment.
SMA isn't routinely detected in the UK and Ireland before or at birth, as it is in almost all of the US, in Germany (Poland, Belgium), Australia, and some parts Japan.
In March, Oxford University launched the first UK pilot study for newborn screening.
It is designed to allow for the detection of SMA in newborns within days of birth. This will enable them to receive treatment and diagnosis as soon as possible.
Liz stated that Luke slept all day, was a great baby and then things started to become apparent.
Luke had poor muscle control, his limbs were sloppy, and he didn't move much. She added that.
He was 8 weeks old when he was first diagnosed with SMA. Treatment began at 9 weeks, which was considered early.
He is in a wheelchair now and requires 24-hour nursing care.
Sean was 10 days old when he started treatment two years later. His life is much the same as his brother's, according to his mother.
"SMA is a progressive disease. Liz said that if you enter before the condition starts to take effect, it will stop it from moving forward."
She said that the difference between the brothers is "black & white".
"Sean began treatment when he was 10 days old. He is now two-and-a-half years old. He is currently not ventilated and has not been to the hospital. He is able to walk and climb the furniture. He's practically unaffected by daily life."
She has urged the Irish government to institute the blood spot test at the birth, so that children suffering from rare conditions can be treated quickly.
She said, "It's a no-brainer for me."
"Luke requires a nurse seven days a week. He's in a wheelchair. He has physiotherapy, speech therapy and language therapy. He needs lumber punctures. This will be his life.
"Every family should have access to screening."
Jonathan O'Grady, director of SMA Ireland, has personally experienced the condition. He is asking the Irish government for the introduction of the blood spot test in addition to the heel prick test that was given to newborns at birth.
He said, "It's a simple test using PCR that costs five euro."
Sixteen of the 60,000 Irish babies will be born with SMA.
"Other countries already have the test. We urge the Irish government not to dally and to make a move to get the medicine to the children as soon as possible. Let's get moving!
He said that new parents don't have the right to test their baby for SMA and are often taking their baby home only to discover later that it has already been diagnosed.
He said, "For the McMahons this will not make any difference to their lives. Their coming forward and speaking up is a selfless act."
"They're not doing it for their next family; they are acting for greater good."
SMA UK calls for immediate intervention to diagnose the condition and treat it.
The charity is a member of the steering group for the UK SMA newborn screen alliance, whose mission it is to bring about the earliest introduction of SMA screening in the UK.
SMA is present in five babies every day in the UK.
In March, Oxford hosted the first UK pilot study for newborn screening for SMA.
This will allow for national newborn screening, which will improve the lives of approximately 70 babies each year in the UK.
