Paityn and Bryce’s First Day of School (2013)
All Photos Provided by Cassie Johnston
Bryce uses a cane to get around and takes nine different medications twice per day. The 5-year-old who attends pre-kindergarten in the Lubbock-Cooper Independent School District also eats a special diet because her parents anticipate her disease will eventually cause her to have diabetes and heart conditions.
When Bryce breaks the rules, her older sister, Paityn, squeals on her out of love.
“Paityn will be the first one to say, ‘Bryce, you can’t eat that. It has too many calories.’ She’ll come and tell me, ‘Bryce is eating something she’s not supposed to.’ She’s almost like a little mom,” said Cassie Johnston, Bryce and Paityn’s mother.
Even though her parents attempt to keep Paityn’s life as normal as any other 11-year-old, Johnston said her older daughter can speak medical language beyond what most adults can because it’s a natural effect caused from living with a little sister who has Alström Syndrome.
About Alström
Johnston said Alström Syndrome is a rare disease caused by a specific recessive, mutated gene given to a child from both parents, and it eventually affects every organ in the body. There have only been about 900 confirmed cases since the disease was discovered in 1959, Johnston said.
“We know that there are a lot of kids that are lost without ever being diagnosed,” she said.
On average, she said, Alström children do not get diagnosed until between the ages of 12 and 16, and their medical conditions are generally serious by that time. Misdiagnosis is also a common problem.
Paityn kisses Bryce while she uses her nebulizer
Johnston said most Alström patients are lost in their teens or early 20s, and it is extremely rare for them to live past 40 because of the medical complications.
Children are born with the progressive disease, she said. Sometimes, she said, affected newborns will immediately have congestive heart failure, but other babies do not display symptoms until they are around six-and-a-half-months old.
“It’s just their eyes start wiggling and shaking,” Johnston said. “their actual eyeballs, and so that usually starts a journey and the process for most families of trying to figure out what’s going on with the child, and from that point, other medical complications start to present.”
Johnston’s Story
Johnston said when Bryce’s eyes started wiggling at five-and-a-half months, the doctors thought she had a brain tumor.
Bryce wrapped up in a towel
“So much so that they told us to prepare ourselves, that we would probably have to do brain surgery,” Johnston said. “When they did the MRI and there was not a tumor, the doctor actually apologized and said ‘I didn’t mean to scare you guys, but we were so certain we were looking at a brain tumor that I was shocked it wasn’t there.’”
Johnston said that experience started her and her family’s two-and-a-half-year journey to figure out the truth.
During that time, Johnston said Bryce constantly battled pneumonia and rapidly gained weight, even though she did not eat very much, and her vision began to deteriorate.
“We started noticing different times when she flat out couldn’t see anything, as if she was blind,” Johnston said.
These symptoms still were not enough to help the Johnston family put the puzzle together.
The Johnston family
However, she said, even if these symptoms are enough to identify the disease, most doctors have not heard of it because it is so rare.
She said the vision problems gave them one clue — whatever she had was a genetic disease. Over the next two years, the doctors tested Bryce for every potential genetic disease they could think of but to no avail.
She googled and researched everything she could think of, she said, but everything that popped up either did not fit Bryce’s symptoms or had already been ruled out. One night in January 2012, Johnston said she questioned to herself how people on TV shows like Dateline stumble upon the answer on the Internet after being sick for years.
“I thought well maybe if I just reword how I’m searching,” Johnston said,” and I changed my search to something like ‘gene mutations causing blindness and obesity,’ and all these different diseases came up that I had not ever seen before.”
She began to go through the new options until one seemed right.
“I got to Alström Syndrome, and it was Bryce,” Johnston said. “It was completely describing Bryce, all the way down to how she looks.”
Bryce with two of her friends who also have Alstrom Syndrome
The medical complications and their typical manifestation timeline perfectly described her daughter.
“I mean, my heart sank because we just knew this was it,” Johnston said.
Johnston said her and her husband wavered back and forth for two weeks after that, debating if they had really discovered their youngest daughter’s ailment. They attempted to find more information about Alström, but there was not a lot available.
One Saturday night, she stumbled upon an online Alström chat group, and she applied to join. In the application, she described why she thought her daughter potentially had Alström.
6:00 Sunday morning, she received an email from a scientist from Maine, who leads world-wide research for Alström Syndrome. The scientist told Johnston she had come to the right place. Johnston said finally having a possible answer gave her a bittersweet feeling.
“At that moment, it was a relief, but it’s also devastating,” Johnston said. “It’s a relief to finally have an answer but devastating that the answer is Alström Syndrome.”
Johnston said she soon learned that there are only a few laboratories in the world that test for the Alström-causing gene.
In March 2012, about eight weeks after sending a lab kit to be tested in Estonia, Johnston said she received a call from the scientist.
Johnston with Bryce
“She said ‘well, we found something, and as you already suspected, we found Bryce’s mutation, and you were right. She has Alström Syndrome,” Johnston said.
When she finally received confirmation about what disease was ailing her youngest daughter, Cassie Johnston said she was flooded with bittersweet emotions.
“It’s a very emotional roller coaster,” she said. “It’s a conflicting, emotional roller coaster. You’re relieved but devastated. You feel empowered cause you have an answer, but you have no control.”
Alström Angels
She said she knew right away that she wanted to do something to help. During her research, Johnston learned there is barely any money for research – less than $100,000 per year.
“That was like a second devastation for us,” she said.
Her and her husband felt powerless after realizing it was impossible to stop the disease’s irreversible medical complications. So, they decided to start raising money for research to gain back some of that power.
Johnston is now the co-founder and executive director of Alström Angels, a non-profit organization aimed at raising money and spreading awareness.
Over the entire 2013 year, the organization was able to help fund genetic testing for 68 children suspected to have the disease. She said 60 were confirmed.
“In the month of December alone, we were able to test 19 families, and 18 of them have a confirmed diagnosis,” she said.
There are 200 children currently on the testing wait list, she said. It costs more than $4,000 for a family to pay out-of-pocket for the testing, she said, because there are so few diagnosed and documented cases based on the diagnostic criteria.
Johnston and Bryce among others at last year’s benefit dinner
However, the labs have agreed to a $750 fee if the scientists use non-profit raised money to test a child for research.
Tuesday, March 10, Alström Angels members finished calculating funds raised at their Feb. 22 benefit dinner. Alström Angels raised a record net of $50,300 for Alström research. The organization auctioned off trips, designer goods and autographed items from celebrities such as Taylor Swift, Muhammed Ali and Kliff Kingsbury.
Bryce Today
Bryce is now 5 years old. She attends regular pre-kindergarten classes through a disability program in the Lubbock-Cooper schools.
“The really great thing about Alström Syndrome is that these kids are smart,” Johnston said,”and they can talk to you. They can communicate back. They’re free. They have a sense of humor. With all the medical complications and the things that Alström Syndrome takes from our kids, it leaves us with the best part of them, which is their mind, their cognitive abilities.”
Bryce loves school, Johnston said, and she is currently learning braille.
Johnston said being the mom of a daughter with Alström has taught her to savor, appreciate and celebrate every moment and accomplishment, even those that most parents do not notice.
“I will never forget the day that she picked up my pair of keys and walked over to the door and was touching them at the door knob, like the keys go here, and we were so excited,” Johnston said. “It was a huge celebration because she mastered that.”
Alström Angels is hosting a free community-wide Easter beeping-egg hunt for the visually impaired.
“We have eggs that were specially made for us that beep so that the kids can hear the beep and find the eggs,” she said.
Sighted children will be given a blindfold so they can experience how it would be like to hunt for the eggs without their vision. The Beeping Egg Hunt will take place from 1 to 4 p.m. on Sunday, April 13, at Lubbock’s Maxey Park.
Visit their website to learn more about Alström Angels or how you can get involved.
About Alicia Keene
