I’m grieving my ‘perfectly healthy’ children while cuddling them – ‘baby Alzheimer’s’ is stealing them away
A MUM has described grieving both her children while cuddling them after they were diagnosed with ‘baby Alzheimer’s’ one after the other.
Jillian, 35, and Donald Arnold, 37, were over the moon after welcoming their son, Roman James, and daughter, Stella.
Both children appeared “perfectly healthy” at first.
But the couple’s happiness soon evaporated into a nightmare, after doctors revealed that Roman and Stella had a rare genetic disorder that would cause them to slowly regress into “shells” of themselves.
“The moment we got the diagnosis, our lives completely changed,” Jillian, from Cincinnati, Ohio, told NeedToKnow.
“I felt like it couldn’t be real and couldn’t understand why this was happening to us.
“Top paediatric doctors told us they hadn’t seen a case of this kind for 20 years.
“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.
“It is something I wouldn’t wish on my worst enemy.
“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.”
DOUBLE BLOW
Roman James was diagnosed with acid sphingomyelinase deficiency (ASMD) – also known as ‘baby Alzheimer’s‘ – when he was just six months old.
Jillian and Donald noticed that their boy was a little behind in physical milestones, such as rolling over – this was the first sign that something was wrong.
Then he began vomiting up most of his feeds.
During a physical exam, doctors noticed he had an enlarged liver and spleen, and after a battery of tests, they found the devastating answer.
ASMD is an extremely rare inherited disorder that causes neurodegeneration, with less than 200 children in the world affected by the condition.
Just three days before getting the news about her son, Jillian realised she was pregnant again.
What should have been a happy time was clouded by a doctor’s warning – due to both parents carrying the genetic mutation, their next child had a 25 per cent chance of getting the same diagnosis.
Unfortunately, that’s exactly what happened with Stella.
It is such a strange feeling grieving a child that you are still holding in your arms
Jillian Arnold
Jillian said: “She was so fiery, motivated, strong and feisty when she was born.
“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.”
‘ANTICIPATORY GRIEF’
Tragically, the nightmare didn’t stop there.
It was discovered that Roman and Stella both have ASMD type A – which is a fatal form of the illness, compared to Type B, which is usually milder.
The children were given a life expectancy of three years.
Their mum said: “Watching them struggle has been the hardest part in all of this.
“Although I have found so much peace in my life in the last couple of years, I still struggle with dealing with the anticipatory grief I feel on a daily basis.
Their diagnosis has tested me in every way possible. It has tested my marriage. It has tested my faith. It has tested my mental health, patience and hope
Jillian Arnold
“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.”
In an effort to raise awareness and connect with others, Jillian began sharing the family’s journey online.
She said: “Being able to share our story to inspire or help guide others in similar circumstances gives me a lot of happiness.
“This is the club no one wants to be in but I have truly met some of the most incredible families in this community.”
DEFYING THE ODDS
Thanks to new clinical trials that Jillian and Donald fought desperately to get their children included in, Roman and Stella are currently defying the odds and are now five and four years old respectively.
The family’s GoFundMe has raised over $140,000 (around £110,000) that has gone towards finding a cure.
She said: “It’s a huge win in our book.
“We couldn’t be prouder that our children are changing the trajectory of this disease with their bravery.
“They continue to inspire me and show me their incredible strength every single day.
What is acid sphingomyelinase deficiency (ASMD)?
ASMD is an inherited disease that affects multiple organs across the body, with symptoms worsening over time.
It’s historically as Niemann-Pick disease types A, A/B, and B.
This disease can be passed down through families, and has a wide array of symptoms. ASMD often affects the liver, lungs, spleen, and blood, as well as the digestive system.
Symptoms of type A – the more severe type – tend to appear in early infancy and progress rapidly. They affect many key organs in the body, including the brain.
Type A/B varies in severity and symptoms can appear during infancy or childhood, with varying progression rates.
Type B ASMD is the more common form of the disease. Symptoms will crop between infancy and adulthood, affecting many key organs in the body but with little to no impact on the brain.
Symptoms will progress slowly and tend to be less severe.
ASMD is an inherited condition caused by genetic variants (changes in your genes). These changes can alter certain processes in your body and result in disease.
The gene involved in ASMD is called SMPD1, whose role is to make an an enzyme called acid sphingomyelinase (ASM).
In people with ASMD, the body is unable to make enough of the ASM enzyme.
Without this, a fatty substance called sphingomyelin can’t be broken down efficiently, and instead builds up in major organs such as the liver, lungs, and spleen.
This can lead to complications over time, as key organs in the body may not be able to function properly.
Symptoms of ASMD
ASMD most commonly affects the spleen, liver, lungs, blood, and digestive system.
Symptoms may appear as:
- A protruding tummy due to an enlarged abdomen and/or spleen
- Coughing and breathing difficulties
- Easy bruising and bleeding
- Abdominal pain and diarrhoea
Source: ASMD Facts
“Their diagnosis has tested me in every way possible.
“It has tested my marriage. It has tested my faith. It has tested my mental health, patience and hope.
“But here we are, all still standing and actually enjoying our lives.
“Being able to accept my children’s diagnosis does not mean I will ever be ‘happy’ about it, though.
“And it definitely does not mean I will ever stop fighting for a cure.
“I know there is a cure out there.
“If you feel called to help our children and others who are battling this devastating disease please consider a donation.”
