An Ohio couple is contending with the devastating news that both of their young children have a rare disorder dubbed ‘baby Alzheimer’s.’
Stella and Roman Arnold, four and five years old, respectively, have a rare genetic condition that causes worsening neurological decline in children similar to that experienced by adult Alzheimer’s patients.
Stella and Roman are defying the odds, however, having been given life expectancies of about three years. But their mother, Jillian Arnold, is already grieving her babies in anticipation of her gut-wrenching loss.
She said: ‘It is such a strange feeling grieving a child that you are still holding in your arms. I try not to ignore those feelings when they arise, but I also try not to dwell on them.’
Stella (center left) and Roman Arnold (center right) have a rare genetic condition that causes progressive neurological decline similar to Alzheimer’s disease in adults. They are pictured with their parents Donald (far left) and Jillian (far right)
Stella and Roman are defying the odds, having been given life expectancies of only three years
Mrs Arnold added: ‘This disease is cruel in the fact that you get a little “taste” of who your children really are – and deep down, who they still are – and then it all quickly gets taken away from you.
‘It is something I wouldn’t wish on my worst enemy.’
Roman was diagnosed at six months old with the severe Type-A form of Acid Sphingomyelinase Deficiency (ASMD).
This genetic condition causes children to experience a loss of motor skills, intellectual disability, feeding difficulties, jaundice – yelling of the skin – and an enlarged liver and spleen.
It’s characterized by a deficiency in an enzyme called sphingomyelinase. This enzyme is needed to break down a fatty substance called sphingomyelin, a crucial part of cells.
It’s a critical component of cell membranes that insulate nerves and plays an important role in cellular communication and cell death.
When those cells don’t die as planned, they accumulate in various tissues in the body and affect key organs, including the liver, spleen, brain, and spine.
ASMD is a genetic condition and occurs when a child inherits two non-working genes from their parents – one from the mother and one from the father.
There is no cure. Instead, doctors treat the symptoms that occur as a result of having the disease.
The typical lifespan of ASMD type-A patients is two to three years and about one-quarter of patients die from some form of a neurodegenerative disease.
Roman (right) was diagnosed at six months old with the severe Type A form of Acid Sphingomyelinase Deficiency (ASMD)
The Arnolds have already begun to grieve the loss of their toddlers, they said
Roman was behind on his milestones, such as rolling over, which was the first suggestion to his parents that something was wrong.
Then, he began vomiting most of his feeds. A physical exam revealed he had an enlarged liver and spleen.
Doctors diagnosed him with ASMD, also known as Niemann-Pick disease (NPD), after a battery of tests and confirmed it was the more severe Type A. The condition occurs in only 0.4 to 0.6 in 100,000 births in the world.
The Human Resources and Services Administration estimates approximately just 15 babies are born with ASMD in the US each year.
And if parents already have a child with ASMD, they have a one in four chance of having another child with the condition.
Mrs Arnold said: ‘I felt like it couldn’t be real and couldn’t understand why this was happening to us.
‘The most difficult aspect of this disease is watching your once healthy and vibrant children start to become a shell of who they once were.’
Just days before her son’s diagnosis, Jillian learned she was pregnant again. But the news was bittersweet.
Mrs Arnold said that watching her children go through this has tested her marriage, her faith, and her mental health
A doctor informed her that given her own genetic predisposition for the disease, as well as that of her husband, their soon-to-be-born daughter would have a 25 percent chance of getting it.
When she was born, Stella was ‘fiery, motivated, strong and feisty.’
Mrs Arnold said: ‘We were so hopeful that she didn’t have it because she seemed so much stronger physically than Roman had as an infant. She also didn’t have any of the vomiting issues he had.
‘We got her diagnosis when she was around three months old, and our hearts were shattered for a second time.’
Stella was also diagnosed with the more severe type-A form of the disease.
She said the ordeal has tested both her marriage and her faith.
Roman and Stella are now involved in a clinical trial for a treatment candidate that has extended their survival by a couple of years, which Mrs Arnold calls ‘a huge win’.
She and her husband have begun sharing their story online and on podcasts to help guide other parents, which has offered them some comfort.
While they’ll never be happy about their children’s diagnosis, they have accepted it.
Mrs Arnold said: ‘It has tested my mental health, patience and hope. But here we are, all still standing and actually enjoying our lives.
‘I know there is a cure out there.’
