According to a story from tapinto.net, the Merrill family was crushed upon learning that their five-year-old daughter Leila was born with Sanfilippo syndrome, a lysosomal storage disease that ultimately causes fatal degeneration to the brain and nervous system. Terrence Merrill, Leila’s dad, is a personal trainer and health coach and lives with his family in Bayville, New Jersey. He shared the heartbreaking news in a video on social media.
Sanfilippo syndrome is also known as mucopolysaccharidosis III. Caused by a genetic mutation, the syndrome is caused by a deficiency in the enzyme that is necessary in order to break down heparan sulfate. As a result, this substance, along with others, begins to build up in the body. The build up causes the central nervous system to slowly deteriorate. Symptoms typically appear between two and six years old. Symptoms include problems speaking, aggressiveness, hyperactivity, seizures, sleeping issues, and developmental delays. In later stages, patients lose their cognitive and mobile abilities, entering a vegetative state before dying. The most common type of Sanfilippo, type A, is also the most severe. This is the type that Leila has. Most patients with this variant may survive into their mid-teens. To learn more about Sanfilippo syndrome, click here.
Treatment options are limited; while the missing enzyme can be injected, it cannot cross the blood-brain barrier to prevent the damage that occurs there. The best hope for Leila is to get her into a clinical trial that is testing new potential treatments. Unfortunately, getting into a clinical trial can be challenging, and her chances of getting a treatment that can prolong her life or cure the syndrome are slim.
Sleep has been a major challenge for Leila and her family. Terrence says that his daughter has almost never gone a full night without waking up several times. This problem has forced Terrence and his wife Eliza to start sleeping at different times and in separate rooms in order to take care of Leila when she wakes. The commotion also disrupts sleep for their son as well, whose life has also been changed by his sister’s diagnosis. Terrence is no stranger to situations requiring strength– in fact he used to be a former marine– and yet, he says that it’s impossible to explain the severity or unfairness of this disease.
“It’s hard to be the kind of parent, spouse, or person you want to be when you go several days in a row on just a few hours of sleep a night,” Terrence said.
Since the diagnosis, Terrence and Eliza have been stuck with the knowledge that there is little they can do to help Leila get better. This feeling of utter powerlessness was intolerable, so the family started a GoFundMe page that is dedicated to their daughter; with a goal of $100,000, they hopes to use the money to improve Leila’s care and fund research that can address this devastating disorder and prevent other families from having to receive the same tragic news. Despite the difficulty of the Merrill family’s situation, they are determined to do their best to help others that are affected.
In the meantime, Terrence and Eliza have committed to making sure that Leila is happy and comfortable for as long as possible, and the family is cherishing every moment that they have with her. If you would like to donate to Merrill family’s GoFundMe, click here.
