Most parents look forward to their children’s birthday parties, often spending weeks planning just the right theme. But for Dave and Elise Esposito, their daughter Keira’s eighth birthday party on January 6 brought mixed emotions.
“It was tough. The party was very emotional,” Elise, a psychologist in Fort Mill, South Carolina, tells PEOPLE. “Eight is one of the ages in Sanfilippo that is a turning point, and most kids start to decline, so it’s a tough birthday as a Sanfilippo parent.”
Keira seemed healthy when she was born, but by the time she was 5 ½ years old — and Elise was nine months pregnant with the couple’s second daughter — doctors gave the family devastating news.
“It was traumatic,” Dave, a technology consultant, tells PEOPLE. “They told us our daughter was dying and our unborn child might face the same death sentence. It was awful.”
Keira has Sanfilippo syndrome (often called ‘Childhood Alzheimer’s’), an extremely rare and deadly genetic disorder where the body lacks a specific enzyme needed to break down toxic waste. It builds up, primarily in the brain, taking away everything a child has learned within a couple of years.
Kids with Sanfilippo lose the ability to talk and walk, and typically end up in a vegetative state before dying in their teens. The current life expectancy is 10-20 years.
“If we knew she could have a happy and healthy life, we wouldn’t be as panicked about the future, but we’re looking at five to seven years of our child suffering, followed by a vegetative state, followed by death,” Dave says. “That’s our path and there’s no way out. We can’t do anything but fight.”
Their only hope is to get Keira into one of the few clinical trials that have started in recent years to try to help kids with the rare syndrome. But there is still so much unknown about the disorder — and so little funding.
“We’re doing what any parent would do with this type of future, we’re fighting as hard as we can because Keira fights so hard,” Elise, 43, says.
In the last year, Keira has lost her ability to talk so her parents know this year’s Dora the Explorer-themed birthday party may be one of the last that she is truly able to enjoy, and the photos they took of her and her 2-year old little sister at the party have very special meaning.
“If there’s no treatment or intervention for Keira, Keaton will never remember a time when they could jump and laugh together, so the pictures and videos like the ones we have from the party where Kiera was laughing and jumping and running are so that we can show Keaton one day.”
Also in attendance at the party, which was held at a local trampoline park, were three other kids with the same rare disease.
“It was great to have three other Sanfillipo girls all around the same age — all jumping and holding hands together and to be with other families who know exactly what we’re going through,” Elise says.
The Espositos also used Keira’s birthday as a way to raise awareness and funds to fight the disease, creating a crowdfunding website, kturns8.com.
“We are very quickly running out of time. A clinical trial is her only hope, it’s so rapidly progressive and because it is so rare, there is very little government funding for the few clinical trials that do exist,” Elise says. “I have to remind myself as much as possible to live in the moment because these are good times…and I know what’s coming.”