Mother describes agony of raising her adorable six-year-old boy with childhood Alzheimer’s 

From about age two, there were signs that something was wrong with Carter Sarkar.

He only knew about 10 words and his speech was starting to regress, so his parents, Jennifer and Samir, put him in speech therapy.

But Carter was also delayed in his motor skills, he had chronic sinus infections and he would play adjacent to – but not with – other kids in preschool. 

But Jennifer and Samir’s suspicions could have never prepared them for Carter’s diagnosis: childhood Alzheimer’s.

The rare, genetic disorder, officially known as Sanfilippo Syndrome, causes sleeplessness, loss of speech and cognitive skills, loss of mobility and dementia. It is referred to as a childhood disease because most patients never reach adulthood.

There is no cure and because Carter has chronic pancreatitis, inflammation of the pancreas that does not heal or improve, it makes him ineligible for most clinical trials.

Speaking to Daily Mail Online, Jennifer described their agonizing race against time to find treatment before the disease robs Carter, now six, of his speech and mobility – and eventually kills him.

 

Carter Sarkar, six, from Los Angeles, California, was diagnosed with a rare, genetic disorder called Sanfilippo Syndrome in May 2016. Pictured: Carter with his parents, Jennifer and Samir

There were signs from age two that Carter (pictured) was developing more slowly compared to his peers. He was delayed in speech and motor skills and he was developing chronic sinus infections 

There were signs from age two that Carter (pictured) was developing more slowly compared to his peers. He was delayed in speech and motor skills and he was developing chronic sinus infections 

A gastroenterologist recommended that the family visit a geneticist after he noted that Carter wasn't fully potty-trained by age three. Pictured, from left to right: Jennifer, Carter, Sophia and Samir Sarkar

A gastroenterologist recommended that the family visit a geneticist after he noted that Carter wasn’t fully potty-trained by age three. Pictured, from left to right: Jennifer, Carter, Sophia and Samir Sarkar

Jennifer met Samir in 2010 while she was a barista at Starbucks in Los Angeles, California, working the early morning shifts.

‘He would come in and he was always so happy in the morning, he had this energy about him,’ she told Daily Mail Online. 

‘He had just gotten out of a serious relationship and so had I. So we started off as a friends. But all my coworkers knew I had a crush on him.’

They were friends for about three months before Samir asked her out on a date. The couple married in November 2011, when their daughter Sophia was about nine months old, and about a year later they had Carter.

Neither knew they were carrying a copy of a nonworking gene that leads to the debilitating disease.

Despite Carter’s delay in his speech and motor skills, neither Jennifer nor Samir believed anything was wrong.

That is until October 2015 when the Sarkars were at the hospital due to Carter’s chronic pancreatitis and the gastroenterologist noted that, at three years old, Carter wasn’t potty-trained and suggested that they see a geneticist. 

Jennifer said that ‘within three seconds’ of Carter walking into the room, he said he believed Carter had Sanfilippo Syndrome (SFS).

SFS is a rare, inherited disorder in which the body is missing or does not have enough of certain enzymes needed to break down long chains of sugar molecules.

Over time, brain cells fill up with waste that the body is unable to process. As the brain gets progressively damaged, children experience hyperactivity, sleeplessness, loss of speech and cognitive skills, loss of mobility, dementia and finally death, usually before adulthood.

Sanfilippo Syndrome is a rare, inherited disorder in which the body is missing or does not have enough of certain enzymes needed to break down long chains of sugar molecules. Pictured: Jennifer and Carter

Sanfilippo Syndrome is a rare, inherited disorder in which the body is missing or does not have enough of certain enzymes needed to break down long chains of sugar molecules. Pictured: Jennifer and Carter

Over time, brain cells fill up with waste that the body is unable to process (Pictured, Carter)

The disease causes sleeplessness, loss of speech and cognitive skills, loss of mobility, dementia and finally death, usually before adulthood (Pictured, Carter)

Over time, brain cells fill up with waste that the body is unable to process and the disease causes sleeplessness, loss of speech and cognitive skills, loss of mobility, dementia and finally death, usually before adulthood. Pictured: Carter, left and right

Because episodes of memory loss fall under the symptoms, SFS is often referred to as childhood Alzheimer’s.

The family did a full genetic test in March 2015 and the geneticist said he would have the results in by July or August. 

WHAT IS SANFILIPPO SYNDROME? 

Sanfilippo Syndrome is a rare, inherited metabolic disorder.

It occurs when the enzymes that are needed to break down heparan sulfate sugar chains are missing or defective. 

Over time, brain cells fill up with waste that the body is unable to process.   

As the brain gets progressively damaged, sufferers will experience:

  • Hyperactivity
  • Sleeplessness
  • Loss of speech and cognitive skills,
  • Cardiac issues
  • Seizures
  • Loss of mobilit
  • Dementia

Sufferers are initially healthy but start to show signs of a decline in learning ability between the ages of two and six. 

Children can only inherit the condition if both of their parents are carriers – in that situation, the child has a 25 percent chance of having the disease.

The syndrome affects one in 70,000 children.

Sanfilippo Syndrome is referred to as a childhood disease because most patients never reach adulthood.

There is currently no treatment or cure, but there are several clinical trials already completed or underway.

Source: Sanfilippo Children’s Foundation 

Two months later, Jennifer said the family was on their way home from Disney World in Florida when a nurse called them.

‘The nurse asked if we could see the doctor the next day and we said we couldn’t because we were heading to the airport so I asked if he could call us,’ she said.

‘I just remember getting off the phone and going over to Samir and said: “I’m pretty sure Carter has SFS”.’  

Both Jennifer and Samir were carrying a nonworking copy of the gene related to SFS. There is a one in 133 chance that a couple will both have a copy of the gene and – if they do – a 25 percent chance that their child will develop the disease.

The couple immediately had their now-eight-year-old daughter tested, and her results came back negative.

In early June 2016, the family met with the geneticist and Jennifer said she was still unsure of what the disease entailed.

‘I was a bit naive because I went in and I asked: “Ok, Carter, has it. What’s the cure?”‘ Jennifer said.

‘And the doctor said: “There’s nothing. There’s clinical trials you can enter but there there’s no proven treatment”.’

Carter is starting to exhibit symptoms of the disease. Every one to two months, he has episodes of memory loss.

‘We could be in his favorite place in the world and then he’ll look up at us and there will be complete loss on his face, like asking: “Why are we here?” and he wants to go home.

‘So we’ll get in the car and he’s crying because he’s confused and I’m crying because I realize that this SFS settling in.’

Jennifer says her son’s balance is also off and he’ll stumble more than usual. Carter’s sleep has also regressed – sometimes sleeping as little as three hours in a night. 

‘In May 2018, he pulled a 28-hour day because his brain doesn’t make the melatonin to say he’s ready to go to sleep,’ said Jennifer.

‘And I’m sure there’s more of these days to come. I’ve spoken to parents who’ve said their kid has gone as much as 72 hours with no sleep.’

Carter (pictured, right, with Sophia) is starting to exhibit symptoms of the disease. Every one to two months, he has episodes of memory loss and can sleep for as little as three hours per day

Carter (pictured, right, with Sophia) is starting to exhibit symptoms of the disease. Every one to two months, he has episodes of memory loss and can sleep for as little as three hours per day

Carter (pictured) has since been selected for an enzyme therapy replacement trial. Candidates are injected with a medicine that delays the onset of symptoms through a port in their spine

Carter (pictured) has since been selected for an enzyme therapy replacement trial. Candidates are injected with a medicine that delays the onset of symptoms through a port in their spine

The family is currently working to raise $1 million on GoFundMe for the clinical trial and has so far raised about $808,000

The family is currently working to raise $1 million on GoFundMe for the clinical trial and has so far raised about $808,000

The Sarkars petitioned for Carter to be enrolled in a gene therapy trial at Nationwide Children’s Hospital, but he was rejected.

He has since been selected for an enzyme therapy replacement trial. Candidates are injected with a medicine that delays the onset of symptoms through a port in their spine.  

Jennifer said there is currently no university or hospital where the trial is to take place but she said she that there are ‘several world renowned facilities and hopeful that had some place experience with SFS will pick it up. 

The family has set up a GoFundMe to help raise money to enter the clinical trial. So far they have raised more than $808,000 out of a $1 million goal.

Jennifer also said that they have a matching donor whose son passed away from SFS who will match $25,000.

The family is trying to raise in total $50,000 by June 30.  

‘We’re just asking for hope to save our son right now, like any family in this situation would,’ Jennifer said.

‘We want to live each day to the fullest because you don’t know what tomorrow is going to bring.’ 



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