Rare condition: For years, Conor's parents, Marisa Di Chacio and Mike Dobin, sought to find out why their child was limited in speech. But the problem did not stop there, as he had reduced social and motor skills. The doctors were confused. They could not come up with a diagnosis. Some talked about autism.
In an attempt to keep up with his peers, the child attended kindergarten twice, but in vain… Until, a few years ago, when Conor was nine, the school child psychologist told his mother something that describes to this day as a "fool". What he told her was that Conor was literally "losing his mind."
Rare condition: The discovery of specialists
A team of experts who followed him later discovered in a test conducted in the schools of the area, that the child's IQ, from 100 that was a few years ago, had plunged to 60 while he was (age) in the third grade. Conor was not autistic, his mind was slowly disappearing on its own… A marathon followed for an explanation and perhaps some treatment.
Until nine months ago, Marisa and Mike got the explanation they desperately wanted in the form of a scary medical diagnosis: Childhood Alzheimer's!
Officially, what 12-year-old Conor Doblin suffers from is Sanfilippo Type C Syndrome. This is an inherited genetic disorder in which a child lacks an enzyme whose deficiency causes progressive damage to the brain and eventually the body. It's rare - but Conor's type is the rarest: Only one in a million children suffer from this type…
If the IQ test had not been done in their area two years ago, there would be no evidence to suggest the genetic tests that revealed Sanfilippo syndrome last April. "After hearing the diagnosis, Mariza and Mike returned home in shock:" I still can't believe there is such a condition, "Mariza said. "I have never heard of it. None of the people I know have ever heard of it. It's so destructive, it's so disastrous. "
Rare condition: What is happening today
Today, the Conor family shares their story with the world while asking for help in rescuing the child. To deal with this enemy, Marisa and Mike manage to do what many divorced couples would find emotionally unthinkable: They put aside their differences to walk together in the fight to save Conor.
To tell the world about what is happening to their child, to find scientists and other parents of children suffering from this terrible disease, to raise as much money as possible for clinical trials and to try to save some children - starting with their own son . "Everything Conor has learned - to walk, to speak, to write, to eat on his own - will be forgotten at some point," said Mariza, 43, a graduate of Archbishop Prendergast University. Joseph.
With a little luck, a "bombardment" of the corrected gene in Conor's system can stop the disease and maintain its cognitive function at its current level. Today, he is a smiling fifth grader who plays with plastic ducklings and watches toddler programs on television, while his classmates have become experts in video games such as Fortnite.
"Ever since we got the diagnosis, we have been on a mission as a family," said Mike, 42, of Massachusetts, who works as a financial adviser. So far, $ 100.000 has been raised by word of mouth. The family also allowed documentary filmmakers from the Cure Sanfilippo Foundation to spend a week with Conor hoping the video would go viral when it was released on social media in a few months.
Rare condition: The song that became a single letter…
The family directs donors to www.fightforconnor.com, which is affiliated with the Cure Sanfilippo Foundation. This South Carolina-based nonprofit leverages fundraising efforts for treatments and is, incidentally, led by a father with a child who also suffers from Sanfilippo Syndrome, Glen O'Neill.
His 10-year-old daughter, Eliza, suffers from a less rare form of Sanfilippo than Conor, but seven years after her diagnosis, she has lost many of the skills she once had: "Once your child's personality begins to appear and then very quickly everything is lost, "said Glenn, 47, whose wife, a pediatrician, also helps the Foundation. "My daughter sang 'Twinkle, Twinkle, Little Star' - the whole song. Then it became "Twinkle Twinkle". Then it became "Twinkle". Then, just the letter T and then nothing. All this happened in a period of six months to a year… "
"It's a terrible disease," said Rebecca Ahrens Niklas, a geneticist at Philadelphia Children's Hospital. "The future for these children, in the absence of approved treatment, is bleak. "Tubes for feeding, wheelchairs, seizures and death," O'Neill said. "No child should be like that. Money - their lack - is an obstacle to helping these children. And that is unthinkable… ".
ΤConor's "crew"
Rare condition: Conor's favorite color is blue. Like any child of his age, he enjoys eating chips and lying on the couch watching TV. His speech is confused, muffled while he can not self-serve. Still, as his mom says: "She is so loving. A child who wants hugs as soon as he gets home from school. A naughty man. A dear friend to his classmates ".
His classmates at West Vincent Elementary School call themselves "Conor's crew" and can't get enough of their friend who may die before they even finish high school. Seeing them in action is like watching a rainbow cross a cloudy sky.
Conor's classmate
Conor's classmate, Eliza Lake, holds out his hand while they are in the library. Conor wraps his fingers tightly around hers. Another friend, sitting in front of them, turns his head back every few minutes to send Conor a smile. He does so as they read excerpts from a book about a fictional cat. The friend of a 10 year old boy. Twin brothers Jack and James Felmei help Conor pick up a book from the shelves. Children communicate with whispers, laughter and smiles. This is because their boyfriend has trouble talking.
After lunch, two more kids join the party: Sylvia and Emma Hatson find Connor at the break for more jokes. The boy who everyone knows has an illness, which leads to death but the brightest look in life. Friends who have known him since he was 3 years old only see Conor's soul. All they hear is his laughter. All they want is to be with him. Their friend, always. A child who deserves a chance…
via