Fate can sometimes be a cruel thing, especially when it comes to children. When they’re babies we hope for all their little dreams and wishes to come true, and parents want to do everything possible to protect them as they grow up.
But what if growing up isn’t an option because of a devastating disease? Samir and Jennifer Sarkar are parents to two children, including 6-year-old Carter who’s been diagnosed with a serious medical condition. He has Sanfilippo Syndrome, a rare metabolic disease that affects children.
Sanfilippo, also referred to as “childhood Alzheimer’s”, is fatal and has no cure. The neurodegenerative condition is hereditary and damages the brain, leading to loss of speech, lack of sleep, heart issues, seizures, dementia and death.
Caused by a lack of an enzyme that’s responsible for processing sugar molecules in the body, each form of Sanfilippo leads to a buildup of those molecules which directly damage the brain and impair cell function.
As time goes on, Sanfilippo gets progressively worse, and parents are only able to watch and offer comfort as they work with doctors to provide palliative care. Most children with the condition die in their teens, but depending on the severity of their condition, some may live longer.
Symptoms of Sanfilippo are similar to autism, and it’s one of the reasons Carter’s case was so difficult to diagnose. When he was three, he began showing mild symptoms of the disease, which included speech delays, behavioral problems, cognitive difficulties, and recurring sinus infections.
His pediatrician was suspicious enough to push for more testing with a geneticist and that’s when it was discovered that the little boy had Sanfilippo’s. It’s been a scary ordeal for the Sarkar family who are now working to fund a clinical trial for Carter.
They’ve partnered with Cure Sanfilippo Foundation, a non-profit group founded by another set of parents whose child also suffers from the condition. It is made up of other families who provide support to one another but raise funds to pay for clinical trials for their children.
At this time, gene therapy seems to be the most promising option for these kids. These therapies are being developed to address the enzyme deficiency, and children who receive these treatments can have their symptoms eased and maybe even extend their lives.
They go through a lot physical pain and suffering and often experience hearing loss, vision impairment, hernia, muscle spasms and loss of movement. Sanfilippo syndrome moves slowly but advances over the years.
Carter’s parents have started a GoFundMe page with a $1,000,000 goal to help pay for a clinical trial for him and other kids with Sanfilippo who need help. These treatments are expensive but are typically privately funded since rare diseases are usually not a priority for large pharmaceutical companies.
Parents are hopeful that if treatment becomes available, they can reverse the effects of the condition. If you are interested in helping Carter and other families, you can visit their GoFundMe page listed above, or check out the Cure Sanfilippo Foundation’s website.
If you want to learn more about Carter and his family, make sure to watch the touching video below.
Are you familiar with Carter’s story? Have you ever heard of Sanfilippo syndrome?