Sanfilippo Syndrome is a heartbreaking disease, but this 6-year-old girl is pushing through it in her family's warm embrace
Every mother hopes to see her daughter grow into a beautiful lady and achieve a million great things in life. However, for Darlene Yurkins, these dreams died when she found out that her daughter Emily Yurkins, 6, was suffering from a rare disorder called Sanfilippo, also known as Childhood Alzheimer's.
Sanfilippo affects one in 70,000 children each year and it is often confused with autism. The problems for Emily started at a very young age when she was diagnosed with a congenital heart defect. A few years later, Emily was diagnosed with Sanfilippo.
The children who are suffering from this disorder progress normally, but are a bit slower than others of their age. After the age of three to four, these kids start showing signs of behavioral, physical and intellectual disabilities. These could include loss of hearing or sight, having seizures, mood disturbance, and dementia. Some even lose their ability to speak and walk and hence they require continuous assistance from someone.
This genetic defect is caused because of the absence of an enzyme responsible for breaking down the sugar molecule. There are four different types of the syndrome, and for each type, a person is missing a different enzyme that breaks down heparan sulfate.
Emily suffers from type A, which is the most common and severe form of Sanfilippo. Her parents knew that something was different about her as she lagged behind her other classmates in most things. When Emily turned 5, she was classified as "intellectually disabled". At first, when Emily was diagnosed, the doctor said that she was suffering from an Autism spectrum disorder and hence, was being given the treatment for the same.
But something in Darlene told her that something was amiss and she started doing her own research, trying to find a disease that matched her daughter's symptoms. It was then that Darlene decided to consult another doctor and she found out that Emily was suffering from Sanfilippo syndrome.
Darlene recalled reading about this disorder, but did not think her daughter had it. She said, "An article about Sanfilippo really gripped me because it was heartbreaking, but it's the last thing I thought my daughter had. So, when I heard it I knew in the back of my mind it wasn't good."
But what broke Darlene's heart was knowing that her daughter did not have much time left. She said, "When I heard the words 'life-limiting'...it just sunk me."
The changes in Emily's behavior were too obvious to go unnoticed as the girl who was once an extrovert and excited about small things in life, suddenyl liked being alone and barely spoke to anyone.
On Emily's sixth birthday, Darlene decided to do something different. She threw her a birthday bash which was also a fundraiser. Looking at Emily's condition the family thought that it is better for her to stay in a close circle as Emily had been experiencing mood disturbances.
Thr birthday/ fundraiser was aimed at generating money for Cure Sanfilippo Foundation which helps with the treatment for kids who are suffering from the disorder. There is no cure for the disease, but there are therapies that are very expensive. There are certain clinics that offer trial treatments for children but looking at Emily's heart condition she was not recognized as being a good candidate.
Now, the family prays for a miracle and spends as much time they can with their daughter. They also want parents to understand that it is good to have a second opinion on medical matters.
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