WCVB NewsCenter 5 recently published a news item featuring Nancy and Paul Burke and their three daughters. The Burke family has been living in the shadows of the deadly Sanfilippo syndrome for the past fifteen years. Nancy and Paul Burke have watched their three daughters outlive doctors’ predictions, but now they feel that they are running out of time.
Jillian was the first of the three daughters to receive the shocking diagnosis of Sanfilippo syndrome when she was six years old. At that time there were no programs, treatments, or drugs for the disease.
Within three years Jillian’s sisters Lindsey and Kelsey were also diagnosed with Sanfilippo syndrome Type C. It is a degenerative and fatal genetic disease that attacks the central nervous system. Life expectancy averages fourteen years.
Paul told WCVB that his wife is amazing in dealing with the problems associated with the disease every minute of every day. During the interview, each of their daughters smiled, and in their own way tried to show their love and appreciation for all that their mother does for them.
So far the three sisters, now in their twenties, have outlived doctors’ predictions, but the disease has begun to take hold. The Burkes are aware that time is running out.
A GoFundMe for Lindsey
WCVB had interviewed the Burkes and their daughters, Lindsey, Kelsey, and Jillian in their Belmont, Massachusetts home in 2014.
The Burkes had created a foundation for families of children diagnosed with Sanfilippo syndrome. The funds collected help new research efforts.
Each girl struggles with ever-increasing symptoms, but now Lindsey is no longer able to walk. Lindsey has been unable, even with help, to get upstairs to her bedroom. To help with this issue, a GoFundMe was set up that paid for a chair lift and grab bars for the bathroom.
But the major challenge is now the hope that a new GoFundMe, which has so far collected about $300,000, will perform miracles and bring in enough money for a clinical trial. That means they have to collect about three million dollars.
New Research Waiting for a Clinical Trial
Texas University researchers are ready to test gene therapy in a clinical trial that could put an end to the damage caused by the Sanfilippo syndrome. When their children were diagnosed, the Burkes were told that there was no chance a clinical trial for their disease would occur during the girls’ lifetime.
The researchers are ready, but now the issue is funding. Three million dollars must be raised in order for the trial to begin. The Burkes and other parents with children who have the disease have embarked on the daunting mission to raise the funds. They will not be deterred.
Mike Dobbyn, a resident of Canton, is also fighting on behalf of his son Connor who was diagnosed in 2019. In Mike’s case, he was told that there is a possibility of a cure, but they do not have the funds – yet.
Mike joined the Cure Sanfilippo group that created a video last October entitled “Save Connor.”
The Foundation also arranged a GoFundMe page, that to date has raised about $300,000 towards the clinical trial. Still, there is a long way to go and there is a tremendous urgency.
As Mike said, every day the damage is increasing not only to Connor’s body but to his brain. All the families involved are asking for help.
Nancy Burke added that the fund can save children’s lives.
More information or support for the Sanfilippo GoFundMe trial is available here.
About the Sanfilippo Syndrome
Sanfilippo Syndrome is a genetic metabolism disorder.
Severe problems occur in a child’s nervous system and brain due to a defect in an enzyme-producing gene. The defective gene allows heparan sulfate to build in the cells. This in turn disrupts their function and affects mental development, behavior, and growth.
As symptoms progress, children develop severe cognitive issues, loss of motor skills, and seizures.
Treatment consists of providing the optimum quality of care as there is, at this moment, no cure for the disease.
However, parents and researchers have been somewhat encouraged by several clinical trials involving gene therapy and enzyme replacement therapy.
Due to the rarity of Sanfilippo syndrome, there are no standard tests to confirm a diagnosis. Doctors may rely on known symptoms to identify the disease.
Perhaps we are now at the crossroads. Anything is possible. There are determined parents and dedicated researchers behind the effort to conquer Sanfilippo syndrome.