For her sixth birthday, Emily Yurkins got a Dora Explorer balloon, a cake with candles that her father helped blow out, and nearly $2,000 for the Cure Sanfilippo Foundation.
Emily suffers from Sanfilippo Syndrome, which has been dubbed 'childhood Alzheimer's.' Her family has known from her birth that she has a congenital heart defect, but she was just diagnosed with Sanfilippo in July 2017.
At six years old, Emily is quickly approaching the developmental 'cliff' for kids with Sanfilippo.
Usually, children with the disease progress relatively normally, though a bit more slowly than others, up until age three or four.
After that, they tend to start exhibiting more behavioral, physical and intellectual issues.
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Emily Yurkins, age six, is still able to run around, but Sanfilippo disorder has already started to rob the once expressive little girl of her ability to speak
Emily blows out the candles on her birthday cake, with some help from her father Mark
The rare disease that makes children forget
Sanfilippo is an enzyme disorder. People born with it lack an enzyme that breaks down complex sugar molecules.
The result is a build up of waste material in cells that causes irreparable damage.
Both parents must have the recessive gene that causes Sanfilippo for a child to inherit it.
Symptoms of Sanfilippo include developmental and learning delays, trouble communicating, hyperactivity and behavior problems, loss of sight and hearing, and eventually dementia and inability to walk.
Many children with Sanfilippo syndrome lose their hearing or sight; they become hyper and difficult to manage, have seizures, and eventually develop dementia, losing their abilities to speak and even walk. They are often misdiagnosed with autism.
The families of most children born with the rare genetic disease will have to watch their children's final days on feeding tubes, in their early teens.
Sanfilippo Syndrome is a genetic defect that prevents a person's body from producing an enzyme that breaks down a sugar molecule called heparan sulfate. Without that enzyme, heparan sulfate builds up in the person's cells, acting like waste material and causing irreversible harm.
There are four different types of the syndrome, and for each types A through D, a person is missing a different enzyme for heparan sulfate breakdown.
Getting the diagnosis: 'it just sunk me'
Emily has type A, the most common and most severe form of Sanfilippo.
Though she had lagged behind her classmates in early education classes, it wasn't until she was almost five years old that she was classified as 'intellectually disabled' and her mother, Darlene began to suspect something might be seriously wrong with her little girl.
Darlene began sifting through the internet for signs, symptoms and stories that seemed similar to her daughter's, following her 'parent's intuition.'
She took Emily to 'another specialist and another specialist,' trying to find answers. Emily had serious developmental delays, but she wasn't on the spectrum for autism.
Finally, they wound up in a geneticist's office. When the doctor told Darlene that Emily had Sanfilippo syndrome, she vaguely recalled reading the disease's name when she was scouring the internet.
An article about San Filioppo 'really gripped me because so sad heart breaking, but last thing I ever thought about my daughter having,' Darlene says. 'So when I heard it knew in back of my mind it wasn't good.'
Then, 'when I heard the words 'life-limiting'...it just sunk me,' Darlene says.
Starting to see the signs
Emily is Darlene's 'one and only,' child. Darlene was 42 when Emily was born, and had not been planning on having children. 'It was such a happy circumstance that she came along,' says Darlene.
'She's a mixed bag of all sorts of silliness, with a sly sense of humor,' Darlene says. She loves one of the family's several cats in particular, and singing, especially the birthday song.
But Emily has started to change.
Preparing for Emily's sixth birthday party and fundraiser, Darlene watched videos of her daughter when she was younger. 'When Emily was a year or two, she was animated, she had words and could express herself.'
'Now she's become more introverted. Those words have dropped out and become something else,' Darlene says.
Emily's communication is so limited that 'the hardest is finding out what's hurting her when she's sick,' or upset.
Often, Darlene says she just has to try changing a situation until Emily, whose behavior has gotten harder to manage, calms down. Even when she does,