By LYNETTE HAALAND, Four Points News
Emmy was smiling a lot during her drive-by 7th birthday celebration in early April in Steiner Ranch. She even clapped some, a major accomplishment for Emmy who has Sanfilippo syndrome.
“We’ve been working on clapping,” said her grandmother Susan Haynie.
The joyful expressions on the faces of birthday parade attendees showed how much Emmy is loved by those who know her.
Emersyn Sue Ochoa, or better known as Emmy, has Sanfilippo syndrome and a heart condition and is not expected to live much longer. She is on hospice, something she has experienced three or four times now in her short life.
“Her life expectancy because of her heart condition is less than 6 months, but she has had that prognosis since she was 3 1/2 years old,” said Maggie Haynie, her mom.
Sanfilippo is a rare genetic metabolism disorder where a change in a single gene makes a child’s body unable to break down certain carbohydrates.
“Children with Sanfilippo will go on to experience progressive dementia, stealing away all their skills and knowledge until it takes their life,” Maggie said.
After what seemed to be normal development and a healthy start to life, Emmy plateaued at age 3.
“By 3-years-old her language started to regress, she was hyperactive and hardly slept,” Maggie said.
Since then she has lost most of her language, has terrible sleep because of sleep apnea. She has lost the ability to walk, to sit up, to eat food or remember to eat or drink.
“She doesn’t remember how to play with toys, she is incontinent, has several seizures per day, arthritis, contractures and partial loss of vision and hearing,” her mom said.
Emmy was born full term on April 3, 2014 and was believed to be a perfect, healthy little girl until she was 18-months-old. Up until then no one had any concerns about her development.
“When she was around 15-months-old, I noticed a slight protrusion on her ribs on her left side,” Maggie said.
Her pediatrician ordered an x-ray. A week after the x-ray, Emmy was diagnosed and admitted to the Rady’s Children’s Hospital in San Diego for a heart condition called Dilated Cardiomyopathy. Although medication can treat symptoms, the only cure for DM is a heart transplant, according to Maggie.
“We were made aware that Emmy’s heart was in severely bad shape and that… she would need a transplant,” said Maggie, who worked full-time as an admissions counselor at that time.
In preparation for a transplant, they had genetic testing done and on September 19, 2016 Emmy was diagnosed with Sanfilippo syndrome.
“I thought the diagnosis of DM was the biggest shock of my life, but I was wrong — Sanfilippo syndrome was,” said Maggie. “My entire life was turned upside down again. This diagnosis came with the tragic news of her being ineligible for a heart transplant.”
Maggie separated with Emmy’s dad and relocated to Steiner Ranch that tumultuous year to move in with her parents Susan and Bill Haynie.
“I knew that I couldn’t do this without them… (they) have helped me tremendously in raising Emmy,” Maggie said.
Emmy is an anomaly and, as far as Maggie knows, one of only two children diagnosed with both diseases.
Not long after her Sanfilippo diagnosis Emmy was placed on hospice because she got very sick and was at a very high risk for a heart attack, Maggie said. They quarantined because they were told by cardiologists that a simple cold could be deadly.
Finding community and support is challenging in normal circumstances but COVID-19 added another layer of isolation.
“We don’t go out or do anything now. It’s too much for her. Socializing is too risky nowadays,” Maggie said.
In Texas there are only about six families who have children with Sanfilippo and all are scattered.
“Our local community has been amazing in their support. It was destiny,” Maggie said.
Kristi Lee-Nordin, who helped organize the birthday parade on April 5th with Christy Howard, said “Emmy is an inspiration and blessing to all lucky enough to cross her path.”
Maggie describes her daughter as a warrior and, despite her circumstances, has remained a sweet, happy, amazing, resilient little girl.
“I am honored to be her momma,” Maggie said.
Photos by Lynette Haaland
Cure Sanfilippo Foundation
In honor of her daughter’s birthday, this week Maggie Haynie is doing a fundraiser for the Cure Sanfilippo Foundation with a goal of $777. As of Wednesday, the amount was surpassed. Find it on Facebook at Maggie Haynie.