Fighting Sanfilippo Syndrome
Darlene Ake was explaining last week to her pre-K children at Wewahitchka Elementary School what they had accomplished, once again.
Like her classes the past four or five years, Ake’s young students embarked this month on a drive to raise funds for the cause of curing Sanfilippo Syndrome.
Ake talked about Ross and Meredith, Wewahitchka children afflicted with the syndrome and how their plight differed from the sniffles plaguing one child.
“You can get better with some medicine, but Ross and Meredith, they don’t have medicine right now to make them better,” Ake said.
And, she noted, the funds the students raised through the annual “Coins for a Cure” drive is just a trickle in a much larger stream.
“They put our money together with other people’s money and it will get bigger,” Ake said.
To which one responded, “Like a snowball.”
“Yes, exactly like a snowball,” Ake said with a smile.
Ake’s class ended up luring $500, in nickels, dimes, quarters and some greenbacks, during their drive to aid the Cure Sanfilippo Foundation.
The money is sorely needed for a race that is, quite literally for the Davis family, against time.
Sanfilippo Syndrome is a rare disease which impacts young children. The first signs in Ross appeared around age 5.
The disease is hereditary; both parents must carry the recessive gene with the odds 1 in 4 their child will actually be afflicted by the disease.
Ross and Meredith both ultimately tested positive for the disease.
Without bogging down in science-speak, Sanfilippo Syndrome is caused by the absence on a DNA strand of a single enzyme, the lack of which causes individual cells to be unable to properly “flush” themselves of toxins, waste.
Those symptoms manifest first in the central nervous system, especially the brain.
Due to the symptoms, progressive dementia, extreme behavior and sleep disturbances, seizures, it has become known as “Childhood Alzheimer’s.”
There is no known cure, in fact the disease, affecting 1 in 700,000 births worldwide, is so recently diagnosed and understood, that medicine is playing catch up.
The ultimate goal is to develop a pre-natal test to identify the syndrome.
In Ross’s case, a normal child began at 5 to develop memory loss and other symptoms and due to the rarity of the disease he was nearly 6 before his diagnosis.
Now, at 10, he has required a wheelchair for several years, is unable to speak, has significant sleep issues, suffers from seizures and has begun to have difficulties swallowing, all signs of the progression of the disease.
The average life expectancy of a child with Sanfilippo Syndrome is 10-12 years.
Research is painfully scarce and underfunded.
The research is expensive and, the Cure Sanfilippo Foundation notes on its website, lacks the end results for pharmaceutical companies in the form of any kind of profits, at least anytime soon.
There are private interests working to produce research across a number of potential treatment fronts, but it is race against the clock.
Meredith just turned 6.