Sensing the World: Ethan and Evie born with rare eye condition
Fundraiser to be held for Isanti family with blind children
By Elizabeth Sias
Sitting in the living room, Ethan chatters with his parents while typing away, his little sister nearby reading a book filled not with colorful pictures and letters, but with patterns of raised dots covering the pages.
“Ethan, why don’t you show us your BrailleNote?” his mom Heather says.
Ethan is 4 years old, loves Star Wars and computers, can type very quickly and wants to be an anesthesiologist when he grows up.
He’s also almost completely blind.
Ethan Jones and his 2-year-old sister Evie were born with a rare, irreversible condition called microphthalmia, which means they have small, undeveloped eyes. The siblings also have sclerocornea—cloudiness in the cornea of the eye, which further impairs their vision. Both children wear glasses for protection only.
In May, Heather will be speaking at the Micro and Anophthalmic Children’s Society (MACS) conference in the U.K. The organization will pay for a portion of the travel costs, but the Jones family of Isanti is also looking to the community to help raise money to cover some of the expenses.
From 4 to 8 p.m. on Friday, April 13, the Jones’s invite the community to Captain’s on Long Lake for Ethan and Evie’s Spaghetti Dinner & Silent Auction fundraiser.
During the MACS conference, Ethan, Evie, their 7-year-old brother Jaxon and parents Brian and Heather will find support through meeting other families of children born without eyes and partially developed eyes.
“It will give our children a chance to make friends who are like them and will give us as parents the support and knowledge we need to raise our kids to lead full, productive and independent lives,” Heather wrote in a letter to the community.
Colors and shadows
Ethan has light perception, meaning he can see colors if a colored light is shined at him, and can see the brightness of objects directly in front of him to detect their color, but cannot see much beyond that.
“If you came in and sat down without making a sound, he wouldn’t know you were there,” Brian said. “He can use the lights to navigate a little bit, but depth perception is very limited.”
At age 4, his parents and doctors are just now learning the extent of Ethan’s vision because it’s largely based on what he can tell them.
Placing a bright orange cup on the table as an example, Brian explained, “If this is sitting here, we don’t know if he can see that this is the shape of a cup, or if he just sees an orange shade or just the shadow of something, depending on how close he is.”
According to MACS, the condition is likely to occur because the sequence of early developmental steps to form an eye is disrupted in some way. These signals for development in the embryo come from the genes within the developing cells. A disruption of this process can occur through external factors during pregnancy or an error in the genes themselves.
Anophthalmia occurs in about one in 100,000 births while microphthalmia occurs in about one in 10,000 births. Around two thirds of these cases are believed to be genetic. The remaining are thought to be caused by environmental factors such as drugs, pesticides, radiation, toxins or viral causes.
Brian and Heather’s oldest son, 7-year-old Jaxon, has no health issues, eye-related or otherwise. With no known history of blindness or eye problems on either side of the family, they thought it was a fluke that Ethan was born with microphthalmia until Evie was also born with the condition.
“She lost the eye”
In addition to microphthalmia and sclerocornea, Evie was also born with congenital glaucoma and persistent fetal vasculature syndrome (PFVS).
In a typical developing infant, the main artery that develops the eye disappears. That didn’t happen with Evie. Instead, it turned into scar tissue, pulling on her retina and cornea and threatening to tear the retina off the back of her eye.
At 2 months old, Evie underwent surgery to remove the scar tissue.
However, because of the cloudy cornea, doctors couldn’t see through the cornea to remove the scar tissue, so they also had to perform a cornea transplant.
The cornea transplant worked—Evie had a clear, but smaller, eye.
Within months, the eye hemorrhaged.
“She lost the eye,” Brian said.
The entire interior of her eye was damaged, causing total loss of vision.
In Evie’s other eye, her parents administered eye drops for glaucoma to keep the pressure down, but the eye developed a cyst behind her retina, pushing it off.
“As far as we can tell at this stage, it’s either fully detached or barely there,” Brian said. “She has no light perception.”
For the first year of her life, her parents were trying to save Evie’s sight. They later discovered that, during that time, she had fluid in her ears which caused hearing impairment during that first year.
“She wasn’t doing any of the baby talk, any of the babbling or anything like that,” Brian said. “They put tubes in her ears, and the next day we noticed a huge difference in reaction to sound.”
After getting her hearing checked again, everything came back normal except for the lowest level of sound in one ear, but the doctor said that should develop normally now that Evie is hearing. Because of the initial hearing impairment, Evie is also behind developmentally in other ways.
At nearly 3, Evie is starting to speak more, such as requesting food. She gets services through the school as well as additional speech therapy to accelerate the learning process.
The difference of deliberate learning
As a sighted child, Jaxon learned to read and write with the rest of his classmates in school.
“All the toys he has have all the print on them and he was so overexposed to all that stuff,” Heather said. “He got his letters and numbers right away because things like that were so easy and there and available and ready for him, whereas I spend hours or days adapting material for Ethan and Evie. We have to teach them everything. Nothing they learn is ever incidental—it’s always deliberate.”
Basic concepts sighted children learn through observation must be taught deliberately to visually impaired kids, Brian explained.
“It’s just plain harder,” he said. “If I said to Jaxon, ‘I put my wallet in my pocket,’ he’d see me doing it and would understand. That would mean absolutely nothing to Ethan and Evie.”
Watching them can be difficult, too, because the parents can’t walk away or leave them alone for long. Their own home has a gate at the top of the stairs and other safety measures, but the kids aren’t familiar with the layout of other houses.
Reading by touch
“You start them right away,” Brian said on learning Braille, a form of written language for the blind, in which characters are represented by patterns of raised dots that are felt with the fingertips.
Ethan can recognize Braille letters and numbers—uncontracted Braille—and is learning contracted Braille, which uses symbols for words, while Evie is in the beginning stages.
Heather is teaching herself Braille to help her children, and often reads short stories with them. The family has bought some Braille books, but Heather also translates children’s books herself using transparent Braille overlaying the text.
Organizations like MACS help families learn about laws regarding the rights of their children and responsibilities of public school districts, such as Free Appropriate Public Education (FAPE).
As mandated by the Individuals with Disabilities Education Act (IDEA), Ethan has an Individualized Education Program, or IEP, at Isanti Primary School. He has some one-on-one learning time, but also classroom time with his age group.
At home, a PCA comes in 24 hours a week to help out, and Evie has in-home services, speech therapy, physical therapy and occupational therapy to help her learn Braille, orientation and mobility.
Cornea transplant is a possibility for Ethan, but his ophthalmologist advised against it, saying the risks involved outweigh the potential benefits. If an infection occurred, or the eye rejected the cornea, it could cause loss of any light perception or vision Ethan has now.
“The littlest of light perception can make the world of difference in blind people,” Brian said. “We don’t want to risk that right now.”
Last summer, the Jones’s attended a conference in Boston through ICAN, or the International Children’s Anophthalmia and Microphthalmia Network. That’s where they met MACS Chairman Barry Stickings, who invited the family to attend the conference in May, including the family weekend.
One of the reasons Brian and Heather want to attend is to learn more about what MACS is doing and bring that information back to ICAN, creating a connection and helping the organization grow.
“They’re normal kids”
Ultimately, Heather and Brian want to make more people aware of microphthalmia not only by sharing information, but by debunking myths and stereotypes about the blind.
“They don’t need your help,” Heather says. “When it comes to getting around and opening a door and moving about, everybody thinks, ‘oh, the poor blind kid; he can’t do for himself.’ Well, Ethan and Evie are very capable doing things themselves, they just need to learn how first.”
Brian agrees, explaining his dislike of hearing people say things like ‘Oh, they’re blind? That’s so sad.’
“That’s one of the worst things for me to hear. No, it’s not sad. They’re normal kids, they just can’t see,” he says, before adding with a laugh, “And stop talking loud—they’re blind, they’re not deaf.”
“It is what it is,” Heather adds. “I hope Ethan can be an anesthesiologist, because that’s what he wants to be.”
To help Ethan, Evie and their family raise travel expenses to attend the Micro and Anophthalmia Children’s Society conference in the U.K., head over to Captain’s on Long Lake on Friday, April 13, from 4 to 8 p.m. for “Ethan and Evie’s Spaghetti Dinner & Silent Auction.”
Tickets are $20 for adults, $10 for kids, and children 2 and under are free. For tickets, call 763-200-1603 or e-mail email@example.com.