A mother has described her two sons’ grief as she hugged them after they were diagnosed with “Alzheimer’s baby” one after the other.
Jillian, 35, and Donald Arnold, 37, were over the moon after welcoming their son, Roman James, and daughter, Stella.
8
8
8
Both children appeared “perfectly healthy” at first.
But the couple’s happiness soon turned into a nightmare, after doctors revealed that Roman and Stella had a rare genetic disease that would cause them to slowly regress into their shells of themselves.
“The moment we received the diagnosis, our lives completely changed,” said Jillian, from Cincinnati, Ohio, Need to know.
“I felt like it couldn’t be real and I couldn’t understand why this was happening to us.
“Top pediatric doctors told us they hadn’t seen a case like this in 20 years.
“The most difficult aspect of this disease is watching your once healthy and vibrant children begin to become shell of who they once were.
“It’s something I wouldn’t wish on my worst enemy.
“This disease is cruel because you get a ‘taste’ of who your children really are – and, deep down, who they still are – and then all of that is quickly taken away from you.”
DOUBLE BLOW
Roman James was diagnosed with acid sphingomyelinase deficiency (ASMD) – also known as “infantile Alzheimer’s” – when he was just six months old.
Jillian and Donald noticed that their son was a little behind in physical milestones, like rolling over — that was the first sign that something was wrong.
Then he started vomiting most of his food.
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 disease that causes neurodegeneration, with fewer than 200 children worldwide affected by the disease.
Just three days before receiving the news of her son, Jillian realized she was pregnant again.
What should have been a happy moment was overshadowed by a doctor’s warning – due to both parents carrying the genetic mutation, his next child had a 25% chance of getting the same diagnosis.
Unfortunately, that’s exactly what happened to Stella.
It’s such a strange feeling to mourn a child you still hold in your arms
Jillian Arnold
Jillian said: “She was so fiery, driven, strong and aggressive when she was born.
“We were so hopeful that she hadn’t because she seemed so much stronger physically than Roman was as a child.
“She also didn’t have any of the vomiting problems that he had.
“We received her diagnosis when she was about three months old and our hearts were broken for the second time.”
‘ANTICIPATORY MOURNING’
Tragically, the nightmare didn’t stop there.
Roman and Stella were found to have ASMD type A – which is a fatal form of the disease, compared to type B, which is generally milder.
The children were given a life expectancy of three years.
The mother said: “Watching them struggle has been the hardest part of all of this.
“Although I have found a lot of peace in my life in recent years, I still have difficulty dealing with the anticipated pain I feel daily.
Their diagnosis tested me in every possible way. This tested my marriage. This tested my faith. Tested my mental health, patience and hope
Jillian Arnold
“It’s such a strange feeling to mourn a child you still hold in your arms.
“I try not to ignore these 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 her family’s journey online.
She said: “Being able to share our story to inspire or help guide others in similar circumstances gives me so much happiness.
“This is the club no one wants to be in, but I’ve truly met some of the most amazing families in this community.”
CHALLENGING THE ODDS
Thanks to new clinical trials that Jillian and Donald fought desperately to enroll their children in, Roman and Stella are currently defying the odds and are now five and four years old, respectively.
The family GoFundMe raised more than $140,000 (around £110,000) which went towards finding a cure.
She said: “It’s a huge win in our book.
“We couldn’t be more proud 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 day.
What is acid sphingomyelinase deficiency (ASMD)?
ASMD is an inherited disease that affects multiple organs in the body, with symptoms worsening over time.
It is historically known as Niemann-Pick disease types A, A/B, and B.
This disease can be passed down through families and has a wide range of symptoms. ASMD frequently affects the liver, lungs, spleen and blood, as well as the digestive system.
Type A symptoms – the most severe type – tend to appear in early childhood and progress quickly. They affect many important organs in the body, including the brain.
Type A/B varies in severity and symptoms may appear during childhood, with varying rates of progression.
ASMD type B is the most common form of the disease. Symptoms will appear between childhood and adulthood, affecting many important organs of the body, but with little or no impact on the brain.
Symptoms progress slowly and tend to be less severe.
ASMD is an inherited disease caused by genetic variants (changes in your genes). These changes can alter certain processes in your body and result in illness.
The gene involved in ASMD is called SMPD1whose function is to produce an enzyme called acid sphingomyelinase (ASM).
In people with ASMD, the body cannot produce enough of the ASM enzyme.
Without this, a fatty substance called sphingomyelin cannot be broken down efficiently and instead accumulates in major organs such as the liver, lungs and spleen.
This can lead to complications over time as important organs in the body may not function properly.
ASMD Symptoms
ASMD most commonly affects the spleen, liver, lungs, blood and digestive system.
Symptoms may appear as:
- Protruding belly due to enlarged abdomen and/or spleen
- Cough and breathing difficulties
- Easy bruising and bleeding
- Abdominal pain and diarrhea
Source: Facts about ASMD
“Their diagnosis tested me in every possible way.
“It tested my marriage. This tested my faith. It tested my mental health, patience and hope.
“But here we are, everyone still standing and really enjoying our lives.
“Being able to accept my children’s diagnosis doesn’t mean I’ll ever be ‘happy’ about it.
“And that definitely doesn’t mean I’ll 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 fighting this devastating disease, please consider a Donation.”
8
8
8
8
This story originally appeared on The-sun.com read the full story
