Jennifer and Samir Sarkar are facing a heartbreaking uphill battle to save their son Carter's life. When he was around a year old, he started to show symptoms that would lead to a diagnosis of Sanfilippo syndrome, sometimes referred to as "Childhood Alzheimer's," in 2016.
"Carter was behind his peers and speech, language, fine motor skills, and PT skills in pre-K," Jennifer Sarkar explains to Parents.com. "We were not too worried, because he wasn’t super-far behind and figured he would eventually catch up. He also started to have some behavioral issues, as well—hard time paying attention, would get upset quite often very similar to autistic-like tendencies."
The Los Angeles mom took Carter to a check-up when he was 3, and the doctor noted that the little boy was not potty trained yet. "I laughed it off with, 'Wwell, you you know boys train later than girls,'" Sarkar shares. "We had a small laugh, and then, his doctor said, 'Well with the delay in speech and language, along with other skills, and now this, i would like to send you to the geneticist to make sure it’s nothing more serious. There are some type of genetic diseases that can cause regression, and I would feel much more comfortable if we left no rock unturned." By seeing the geneticist, the Sarkars learned that Carter's symptoms—along with night terrors and sinus infections—collectively appeared as early signs of Sanfilippo syndrome.
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The rare metabolic, inherited disorder—also referred to as MPSIII—causes fatal brain damage, according to the Sanfilippo Children's Foundation. It is referred to as a childhood disease because most patients never reach adulthood. One in 70,000 children is born with the condition, which is caused by an enzyme deficiency.
MPS III causes significant nervous system symptoms, including severe intellectual disability. Most people with MPS III live into their teenage years. Some live longer, while others with severe forms die at an earlier age.
Attempting to explain the disorder to their son is, in and of itself, a heart-wrenching experience for his parents. "Carter currently is mentally right around the age of a 3-year-old," Sarkar explains. "He doesn’t understand any of it, which to us is just heartbreaking. There are times were he is lost or confused and has no idea how he got to where he is, and you can just see on his little face that he is scared. It’s a very difficult situation, because you wish there was something you could do to take his pain and suffering. As a parent, you always want to try and protect and help your child with everything that they encounter. You can tell Carter is looking to us answers, but when we try and explain he doesn’t understand, and that always makes it even more emotional and devastating on a day-to-day basis."
Currently, there is no cure for Sanfilippo, only management of the symptoms. But the Sarkars are hopeful that if they fund a clinical trial, they may be able to give Carter a new lease on life. "The clinical trial that we are trying to fun led is a novel enzyme therapy replacement trial," explains Sarkar. "It has shown remarkable results with a very similar like disease. Scientists are working on a way to adapt that treatment to work for the specific type of Sanfilippo Syndrome that Carter has—[which is] Sanfilippo Syndrome Type A. ... Without this hope, Carter will lose his speech. He will not be able to tell us where or if he’s hurt or in pain. He will not be able to walk or play his favorite game tag. He will start to have seizures, hearing, and vision loss. He will become bed-ridden. More than likely, we will have to have a feeding tube in place, and he will pass away in his teens. The next five years will be full of pain and suffering, and we are just trying to change that for him. We just want to be able to give him a chance and protect him from all of this as much as we possibly can."
It's understandably harrowing to feel like your hands are tied when your child is battling a health challenge like this. "As parents you want to try and make life as easy for your children as possible," Sarkar shares. "When they are hurt or in pain, you want to just kiss their boo-boos away, but Sanfilippo syndrome is not just something we can kiss away and make better. We need the money to fund this trial. We need it to try and save Carter and his Sanfilippo siblings."
To that end, the Sarkars have set up a GoFundMe page to raise money for the clinical trial, which will be funded by the 501(c)(3) nonprofit organization, Cure Sanfilippo Foundation. Their goal is $1 million dollars, and in the fundraiser's first week, more than 2,000 people have donated, bringing the total to over $171K. Every dollar will be put toward the research.
"Almost immediately after diagnosis, we joined forces with Cure Sanfilippo Foundation," Sarkar explains. "This foundation is made up of numerous families, and we are all like one big family. We laugh and cry together. We share ideas or information on what different tricks to try or therapies to do, check in on one another, etc. This group understands the daily struggles that each one of our children and family go through and just are so supportive of one another. It has been such a blessing to be a part of this foundation and meet so many terrific people who not only advocate for children but worked tirelessly to raise funds, so we can get more treatment options available."
Having that support network has been invaluable for the Sarkars. When it comes to advising other parents who are in the same boat, fighting for their children's health after being diagnosed with a rare disorder, Sarkar advises, "Although there are there are devastating diseases out there for children like this one, know that you will always rise to the challenges. Look always for the silver lining in any situation. Try to live by Carter’s motto which is 'live today, hope for tomorrow.'"