It’s a genetic disorder so rare that very few people know about it. However, for one young man and his family from the Leroy/Englefeld area, Sanfilippo Syndrome, also known as MPS IIIC, the disease has become a watchword for action.

Henry Lucas is five-years-old. His mother, Julie Lucas, became alerted to some motor skill issues and she began to pursue a diagnosis. When initial tests came back inconclusive, blood tests were ordered that were designed to target genetic markers.

The diagnosis was mucopolysaccharidosis type III (MPS III). The disease does not allow for the breakdown and absorption of a specific type of sugar molecule. The renegade molecules will attach themselves to the brain and brain stem, resulting in a severe neurological impact. The prognosis for those afflicted with Sanfilippo Syndrome is not a positive one. Most patients do not live beyond twenty years of age.

Julie Lucas elaborates, “The molecules can actually attach themselves to his bones, his organs, everywhere. Unfortunately, it is a life-shortening illness; there are children that we’re losing before their tenth birthday, but we have children living into their twenties. However, the older they get, the more their life-quality diminishes.” 

In fact, Lucas describes a scenario that sounds similar to other neurological disorders. Advanced patients may lose their ability to speak or communicate and later see physical control degraded to the point where it may be a challenge for them to walk or feed themselves.  

There are three variants of the disease labelled A, B, and C. Henry is afflicted with C, the rarest form. Julie Lucas explains that there are preliminary trials being conducted for Types A and B, but little progress has been made on C. 

Lucas explains, “For Types A and B, they are slowly getting to the point of doing therapeutic trials, but this is not a cure. It’s a therapy to increase the life quality and potentially the longevity for the children. However, they haven’t got to that point with Henry’s form yet.”

Julie Lucas is proactive in the pursuit of any edge for Henry as she has started a fundraising page on FaceBook. Once Henry’s diagnosis was conclusive and the Lucas family had a chance to confer with their extended families, the efforts began in earnest. The Cure Sanfilippo Foundation was the platform Lucas used for their fundraiser. The site provides information on the disorder along with updates and ways to help.

Lucas hopes that people are understanding of the needs of parents and families with special needs children. 

She asks, “Let us give you our knowledge, let us parent and be who we are without judgement, and if you can help in any way, even in the small ways, it’s appreciated more than words can say.

Family and friends gathered for Henry’s fifth birthday on April 12 with all the trappings and excitement that such a day can bring. Birthdays are a precious commodity at the Lucas household, as is every day.  

More information can be found at https://curesff.org/